malabsorption
malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal gi tract impairment can be of single or multiple nutrients depending on the abnormality this may lead to malnutrition and a variety of anaemias
xx male syndrome
xx male syndrome also called de la chapelle syndrome for albert de la chapelle who characterized it in 1972 is a rare sex chromosomal disorder usually it is caused by unequal crossing over between x and y chromosomes during meiosis in the father which results in the x chromosome containing the normally male sry gene when this x combines with a normal x from the mother during fertilization the result is an xx male this syndrome occurs in approximately four or five in 100 000 individuals making it less common than klinefelter syndrome
spondylitis
spondylitis is an inflammation of the vertebra it is a form of spondylopathy in many cases spondylitis involves one or more vertebral joints as well which itself is called spondylarthritis
barraquer – simons syndrome
barraquer – simons syndrome or acquired partial lipodystrophy cephalothoracic lipodystrophy and progressive lipodystrophy is a rare form of lipodystrophy which usually first affects the head and then spreads to the thorax it is named for luis barraquer roviralta 1855 – 1928 a spanish physician and arthur simons 1879 – 1942 a german physician some evidence links it to lmnb 2
lobectomy
lobectomy means surgical excision of a lobe this may refer to a lobe of the lung a lobe of the thyroid hemithyroidectomy or a lobe of the brain as in anterior temporal lobectomy
arachnophobia
cholera
cholera is an infection of the small intestine by some strains of the bacterium vibrio cholerae symptoms may range from none to mild to severe the classic symptom is large amounts of watery diarrhea that lasts a few days vomiting and muscle cramps may also occur diarrhea can be so severe that it leads within hours to severe dehydration and electrolyte imbalance this may result in sunken eyes cold skin decreased skin elasticity and wrinkling of the hands and feet the dehydration may result in the skin turning bluish symptoms start two hours to five days after exposure
cholera is an infection of the small intestine by some strains of the bacterium vibrio cholerae symptoms may range from none to mild to severe the classic symptom is large amounts of watery diarrhea that lasts a few days vomiting and muscle cramps may also occur diarrhea can be so severe that it leads within hours to severe dehydration and electrolyte imbalance this may result in sunken eyes cold skin decreased skin elasticity and wrinkling of the hands and feet the dehydration may result in the skin turning bluish symptoms start two hours to five days after exposure cholera is caused by a number of types of vibrio cholerae with some types producing more severe disease than others it is spread mostly by unsafe water and unsafe food that has been contaminated with human feces containing the bacteria undercooked seafood is a common source humans are the only animal affected risk factors for the disease include poor sanitation not enough clean drinking water and poverty there are concerns that rising sea levels will increase rates of disease cholera can be diagnosed by a stool test a rapid dipstick test is available but is not as accurate prevention involves improved sanitation and access to clean water cholera vaccines that are given by mouth provide reasonable protection for about six months they have the added benefit of protecting against another type of diarrhea caused by e coli the primary treatment is oral rehydration therapy — the replacement of fluids with slightly sweet and salty solutions rice based solutions are preferred zinc supplementation is useful in children in severe cases intravenous fluids such as ringer s lactate may be required and antibiotics may be beneficial testing to see which antibiotic the cholera is susceptible to can help guide the choice cholera affects an estimated 3 – 5 million people worldwide and causes 58 000 – 130 000 deaths a year as of 2010 while it is currently classified as a pandemic it is rare in the developed world children are mostly affected cholera occurs as both outbreaks and chronically in certain areas areas with an ongoing risk of disease include africa and south east asia while the risk of death among those affected is usually less than 5 it may be as high as 50 among some groups who do not have access to treatment historical descriptions of cholera are found as early as the 5 th century bc in sanskrit the study of cholera by john snow between 1849 and 1854 led to significant advances in the field of epidemiology
infection
infection is the invasion of an organism s body tissues by disease causing agents their multiplication and the reaction of host tissues to these organisms and the toxins they produce infectious disease also known as transmissible disease or communicable disease is illness resulting from an infection infections are caused by infectious agents including viruses viroids prions bacteria nematodes such as parasitic roundworms and pinworms arthropods such as ticks mites fleas and lice fungi such as ringworm and other macroparasites such as tapeworms and other helminths
infection is the invasion of an organism s body tissues by disease causing agents their multiplication and the reaction of host tissues to these organisms and the toxins they produce infectious disease also known as transmissible disease or communicable disease is illness resulting from an infection infections are caused by infectious agents including viruses viroids prions bacteria nematodes such as parasitic roundworms and pinworms arthropods such as ticks mites fleas and lice fungi such as ringworm and other macroparasites such as tapeworms and other helminths hosts can fight infections using their immune system mammalian hosts react to infections with an innate response often involving inflammation followed by an adaptive response specific medications used to treat infections include antibiotics antivirals antifungals antiprotozoals and antihelminthics infectious diseases resulted in 9 2 million deaths in 2013 about 17 of all deaths the branch of medicine that focuses on infections is referred to as infectious disease
typhoid fever
typhoid fever also known simply as typhoid is a bacterial infection due to salmonella typhi that causes symptoms which may vary from mild to severe and usually begin six to thirty days after exposure often there is a gradual onset of a high fever over several days weakness abdominal pain constipation and headaches also commonly occur diarrhea is uncommon and vomiting is not usually severe some people develop a skin rash with rose colored spots in severe cases there may be confusion without treatment symptoms may last weeks or months other people may carry the bacterium without being affected however they are still able to spread the disease to others typhoid fever is a type of enteric fever along with paratyphoid fever
typhoid fever also known simply as typhoid is a bacterial infection due to salmonella typhi that causes symptoms which may vary from mild to severe and usually begin six to thirty days after exposure often there is a gradual onset of a high fever over several days weakness abdominal pain constipation and headaches also commonly occur diarrhea is uncommon and vomiting is not usually severe some people develop a skin rash with rose colored spots in severe cases there may be confusion without treatment symptoms may last weeks or months other people may carry the bacterium without being affected however they are still able to spread the disease to others typhoid fever is a type of enteric fever along with paratyphoid fever the cause is the bacterium salmonella typhi also known as salmonella enterica serotype typhi growing in the intestines and blood typhoid is spread by eating or drinking food or water contaminated with the feces of an infected person risk factors include poor sanitation and poor hygiene those who travel to the developing world are also at risk and only humans can be infected diagnosis is by either culturing the bacteria or detecting the bacterium s dna in the blood stool or bone marrow culturing the bacterium can be difficult bone marrow testing is the most accurate symptoms are similar to that of many other infectious diseases typhus is a different disease a typhoid vaccine can prevent about 30 to 70 of cases during the first two years the vaccine may have some effect for up to seven years it is recommended for those at high risk or people traveling to areas where the disease is common other efforts to prevent the disease include providing clean drinking water better sanitation and better handwashing until it has been confirmed that an individual s infection is cleared the individual should not prepare food for others treatment of disease is with antibiotics such as azithromycin fluoroquinolones or third generation cephalosporins resistance to these antibiotics has been developing which has made treatment of the disease more difficult in 2013 there were 11 million new cases reported worldwide the disease is most common in india children are most commonly affected rates of disease decreased in the developed world in the 1940 s as a result of improved sanitation and use of antibiotics to treat the disease each year in the united states about 400 cases are reported and it is estimated that the disease occurs in about 6 000 people in 2013 it resulted in about 161 000 deaths worldwide down from 181 000 in 1990 about 0 3 of the global total the risk of death may be as high as 20 without treatment with treatment it is between 1 and 4 the name typhoid means resembling typhus due to the similarity in symptoms
paratyphoid fever
paratyphoid fever also known simply as paratyphoid is a bacterial infection caused by one of the three types of salmonella enterica symptoms usually begin six to thirty days after exposure and are the same as those of typhoid fever often there is a gradual onset of a high fever over several days weakness loss of appetite and headaches also commonly occur some people develop a skin rash with rose colored spots without treatment symptoms may last weeks or months other people may carry the bacteria without being affected however are still able to spread the disease to others both typhoid and paratyphoid are of similar severity paratyphoid fever is a type of enteric fever along with typhoid fever
salmonellosis
salmonellosis is an infection caused by salmonella bacteria most people infected with salmonella develop diarrhea fever vomiting and abdominal cramps 12 to 72 hours after infection in most cases the illness lasts four to seven days and most people recover without treatment in some cases the diarrhea may be so severe that the patient becomes dangerously dehydrated and must be hospitalized
salmonellosis is an infection caused by salmonella bacteria most people infected with salmonella develop diarrhea fever vomiting and abdominal cramps 12 to 72 hours after infection in most cases the illness lasts four to seven days and most people recover without treatment in some cases the diarrhea may be so severe that the patient becomes dangerously dehydrated and must be hospitalized intravenous fluids may be used to treat dehydration medications may be used to provide symptomatic relief such as fever reduction in severe cases the salmonella infection may spread from the intestines to the blood stream and then to other body sites this is known as typhoid fever and is treated with antibiotics the elderly infants and those with impaired immune systems are more likely to develop severe illness some people afflicted with salmonellosis later experience reactive arthritis which can have long lasting disabling effects the only two species of salmonella are salmonella bongori and salmonella enterica the latter is divided in six subspecies s e enterica s e salamae s e arizonae s e diazonae s e houtenase and s e indica these subspecies are further divided into numerous serovars because the serovars only differ in serotypes and therefore in infection potential the serovars are not italicised and are written with a capital letter as they still belong to the same subspecies the species salmonella enterica subsp enterica contains over 60 of the total number of serovars and 99 of the serovars that are capable of infecting cold and warm blooded animals as well as humans infections are usually contracted from sources such as poultry pork beef and fish seafood if the meat is prepared incorrectly or is infected with the bacteria after preparation infected eggs egg products and milk when not prepared handled or refrigerated properly tainted fruits and vegetables reptiles such as red eared slider turtles and green iguanas may carry salmonella bongori which inhabits cold blooded animals in their intestines which can cause intestinal infections the most severe human salmonella infection is caused by s enterica subsp enterica ser typhi which leads to typhoid fever an infection that often proves fatal if not treated with the appropriate antibiotics this serovar is restricted to humans and is usually contracted through direct contact with the fecal matter of an infected person typhoid fever is endemic in the developing world where unsanitary conditions are more likely to prevail and which can affect as many as 21 5 million people each year recorded cases of typhoid fever in the developed world are mostly related to recent travel in areas where salmonella typhi is endemic
gastroenteritis
gastroenteritis also known as infectious diarrhea is inflammation of the gastrointestinal tract that involves the stomach and small intestine signs and symptoms include some combination of diarrhea vomiting and abdominal pain fever lack of energy and dehydration may also occur this typically lasts less than two weeks it is unrelated to influenza though it has been called the stomach flu
shigellosis
shigellosis also known as bacillary dysentery or marlow syndrome in its most severe manifestation is a foodborne illness caused by infection by bacteria of the genus shigella shigellosis rarely occurs in animals other than humans
enterotoxigenic escherichia coli
enterotoxigenic escherichia coli etec is a type of escherichia coli and one of the leading bacterial causes of diarrhea in the developing world as well as the most common cause of travelers diarrhea insufficient data exist but conservative estimates suggest that each year about 157 000 deaths occur mostly in children from etec a number of pathogenic isolates are termed etec but the main hallmarks of this type of bacteria are expression of one or more enterotoxins and presence of fimbriae used for attachment to host intestinal cells
shigatoxigenic and verotoxigenic escherichia coli
shigatoxigenic escherichia coli stec and verotoxigenic e coli vtec are strains of the bacterium escherichia coli that produce either shiga toxin or shiga like toxin verotoxin only a minority of the strains cause illness in humans the ones that do are collectively known as enterohemorrhagic e coli ehec and are major causes of foodborne illness when infecting humans they often cause gastroenteritis enterocolitis and bloody diarrhea hence the name enterohemorrhagic and sometimes cause the severe complication of hemolytic uremic syndrome hus the group and its subgroups are known by they are distinguished from other pathotypes of intestinal pathogenic e coli including enterotoxigenic e coli etec enteropathogenic e coli epec enteroinvasive e coli eiec entero
campylobacteriosis
campylobacteriosis is an infection by the campylobacter bacterium most commonly c jejuni it is among the most common bacterial infections of humans often a foodborne illness it produces an inflammatory sometimes bloody diarrhea or dysentery syndrome mostly including cramps fever and pain
yersiniosis
yersiniosis is an infectious disease caused by a bacterium of the genus yersinia in the united states most yersiniosis infections among humans are caused by yersinia enterocolitica the infection by y enterocolitica is also known as pseudotuberculosis yersiniosis is mentioned as a specific zoonotic disease to prevent outbreaks in european council directive 92 117 eec another bacterium of the same genus yersinia pestis is the cause of plague
yersiniosis is an infectious disease caused by a bacterium of the genus yersinia in the united states most yersiniosis infections among humans are caused by yersinia enterocolitica the infection by y enterocolitica is also known as pseudotuberculosis yersiniosis is mentioned as a specific zoonotic disease to prevent outbreaks in european council directive 92 117 eec infection with y enterocolitica occurs most often in young children the infection is thought to be contracted through the consumption of undercooked meat products unpasteurized milk or water contaminated by the bacteria it has been also sometimes associated with handling raw chitterlings another bacterium of the same genus yersinia pestis is the cause of plague
clostridium difficile infection
clostridium difficile infection cdi is a symptomatic infection due to the spore forming bacterium clostridium difficile symptoms include watery diarrhea fever nausea and abdominal pain it makes up about 20 of cases of antibiotic associated diarrhea complications may include pseudomembranous colitis toxic megacolon perforation of the colon and sepsis
botulism
botulism is a rare and potentially fatal illness caused by a toxin produced by the bacterium clostridium botulinum the disease begins with weakness trouble seeing feeling tired and trouble speaking this may then be followed by weakness of the arms chest muscles and legs the disease does not usually affect consciousness or cause a fever
botulism is a rare and potentially fatal illness caused by a toxin produced by the bacterium clostridium botulinum the disease begins with weakness trouble seeing feeling tired and trouble speaking this may then be followed by weakness of the arms chest muscles and legs the disease does not usually affect consciousness or cause a fever botulism can be spread several different ways the bacterial spores which cause it are common in both soil and water they produce the botulinum toxin when exposed to low oxygen levels and certain temperatures foodborne botulism happens when food containing the toxin is eaten infant botulism happens when the bacteria develops in the intestines and releases the toxin this typically only occurs in children less than six months old as protective mechanisms develop after that time wound botulism is found most often among those who inject street drugs in this situation spores enter a wound and in the absence of oxygen release the toxin it is not passed directly between people the diagnosis is confirmed by finding the toxin or bacteria in the person in question prevention is primarily by proper food preparation the toxin though not the organism is destroyed by heating it to more than 85 ° c 185 ° f for longer than 5 minutes honey can contain the organism and for this reason honey should not be fed to children under 12 months treatment is with an antitoxin in those who lose their ability to breathe on their own mechanical ventilation may be necessary for months antibiotics may be used for wound botulism death occurs in 5 to 10 of people botulism can affect many other animals the word is from latin botulus meaning sausage
amoebiasis
amoebiasis also known as amebiasis or entamoebiasis is an infection caused by any of the amoebas of the entamoeba group symptoms are most common upon infection by entamoeba histolytica amoebiasis can present with no mild or severe symptoms symptoms may include abdominal pain mild diarrhoea bloody diarrhea or severe colitis with tissue death and perforation this last complication may cause peritonitis people affected may develop anemia due to loss of blood
giardiasis
giardiasis popularly known as beaver fever is a zoonotic parasitic disease caused by the flagellate protozoan giardia lamblia also sometimes called giardia intestinalis and giardia duodenalis the giardia organism inhabits the digestive tract of a wide variety of domestic and wild animal species as well as humans it is one of the most common pathogenic parasitic infections in humans worldwide in 2013 there were about 280 million people worldwide with symptomatic giardiasis
cryptosporidiosis
cryptosporidiosis also known as crypto is a parasitic disease caused by cryptosporidium a genus of protozoan parasites in the phylum apicomplexa it affects the distal small intestine and can affect the respiratory tract in both immunocompetent i e individuals with a normal functioning immune system and immunocompromised e g persons with hiv aids individuals resulting in watery diarrhea with or without an unexplained cough in immunocompromised individuals the symptoms are particularly severe and can be fatal it is primarily spread through the fecal oral route often through contaminated water recent evidence suggests that it can also be transmitted via fomites in respiratory secretions
cryptosporidiosis also known as crypto is a parasitic disease caused by cryptosporidium a genus of protozoan parasites in the phylum apicomplexa it affects the distal small intestine and can affect the respiratory tract in both immunocompetent i e individuals with a normal functioning immune system and immunocompromised e g persons with hiv aids individuals resulting in watery diarrhea with or without an unexplained cough in immunocompromised individuals the symptoms are particularly severe and can be fatal it is primarily spread through the fecal oral route often through contaminated water recent evidence suggests that it can also be transmitted via fomites in respiratory secretions cryptosporidium is the organism most commonly isolated in hiv positive patients presenting with diarrhea despite not being identified until 1976 it is one of the most common waterborne diseases and is found worldwide the parasite is transmitted by environmentally hardy microbial cysts oocysts that once ingested exist in the small intestine and result in an infection of intestinal epithelial tissue
tuberculosis
tuberculosis tb is an infectious disease caused by the bacterium mycobacterium tuberculosis mtb tuberculosis generally affects the lungs but can also affect other parts of the body most infections do not have symptoms known as latent tuberculosis about 10 of latent infections progress to active disease which if left untreated kills about half of those infected the classic symptoms of active tb are a chronic cough with blood containing sputum fever night sweats and weight loss the historical term consumption came about due to the weight loss infection of other organs can cause a wide range of symptoms
tuberculosis tb is an infectious disease caused by the bacterium mycobacterium tuberculosis mtb tuberculosis generally affects the lungs but can also affect other parts of the body most infections do not have symptoms known as latent tuberculosis about 10 of latent infections progress to active disease which if left untreated kills about half of those infected the classic symptoms of active tb are a chronic cough with blood containing sputum fever night sweats and weight loss the historical term consumption came about due to the weight loss infection of other organs can cause a wide range of symptoms tuberculosis is spread through the air when people who have active tb in their lungs cough spit speak or sneeze people with latent tb do not spread the disease active infection occurs more often in people with hiv aids and in those who smoke diagnosis of active tb is based on chest x rays as well as microscopic examination and culture of body fluids diagnosis of latent tb relies on the tuberculin skin test tst or blood tests prevention of tb involves screening those at high risk early detection and treatment of cases and vaccination with the bacillus calmette guérin vaccine those at high risk include household workplace and social contacts of people with active tb treatment requires the use of multiple antibiotics over a long period of time antibiotic resistance is a growing problem with increasing rates of multiple drug resistant tuberculosis mdr tb one third of the world s population is thought to be infected with tb new infections occur in about 1 of the population each year in 2014 there were 9 6 million cases of active tb which resulted in 1 5 million deaths more than 95 of deaths occurred in developing countries the number of new cases each year has decreased since 2000 about 80 of people in many asian and african countries test positive while 5 – 10 of people in the united states population tests positive by the tuberculin test tuberculosis has been present in humans since ancient times
tuberculous cervical lymphadenitis
mycobacterial cervical lymphadenitis also known as scrofula or king s evil refers to a lymphadenitis of the cervical lymph nodes associated with tuberculosis as well as non tuberculous atypical mycobacteria
plague disease
plague is an infectious disease that is caused by the bacterium yersinia pestis depending on lung infection or sanitary conditions plague can be spread in the air by direct contact or very rarely by contaminated undercooked food the symptoms of plague depend on the concentrated areas of infection in each person bubonic plague in lymph nodes septicemic plague in blood vessels pneumonic plague in lungs it is treatable if detected early plague is still relatively common in some remote parts of the world
tularemia
tularemia is a serious infectious disease caused by the intracellular bacterium francisella tularensis it causes fever and sometimes ulceration at the site of entry and or swelling of nearby lymph nodes it can cause severe pneumonia
anthrax
anthrax is an infection caused by the bacterium bacillus anthracis it can occur in four forms skin inhalation intestinal and injection symptoms begin between one day and two months after contracting the infection the skin form presents with a small blister with surrounding swelling that often turns into a painless ulcer with a black center the inhalation form presents with fever chest pain and shortness of breath the intestinal form presents with nausea vomiting diarrhea or abdominal pain the injection form presents with fever and an abscess at the site of drug injection
anthrax is an infection caused by the bacterium bacillus anthracis it can occur in four forms skin inhalation intestinal and injection symptoms begin between one day and two months after contracting the infection the skin form presents with a small blister with surrounding swelling that often turns into a painless ulcer with a black center the inhalation form presents with fever chest pain and shortness of breath the intestinal form presents with nausea vomiting diarrhea or abdominal pain the injection form presents with fever and an abscess at the site of drug injection anthrax is spread by contact with the spores of the bacteria which are often from infectious animal products contact is by breathing eating or through an area of broken skin it does not typically spread directly between people risk factors include people who work with animals or animal products travelers postal workers and military personnel diagnosis can be confirmed based on finding antibodies or the toxin in the blood or by culture of a sample from the infected site anthrax vaccination is recommended for people who are at high risk immunizing animals against anthrax is recommended in areas where previous infections have occurred two months of antibiotics such as doxycycline or ciprofloxacin after exposure can also prevent infection if infection occurs treatment is with antibiotics and possibly antitoxin the type and number of antibiotics used depends on the type of infection antitoxin is recommended for those with widespread infection anthrax among people is most common in africa and central and southern asia it also occurs fairly regularly in southern europe but is uncommon in northern europe and north america globally at least 2 000 cases occur a year with about two cases a year in the united states skin infections represent more than 95 of cases without treatment the risk of death from skin anthrax is 24 for intestinal infection the risk of death is 25 to 75 while in inhaled anthrax despite treatment it is around 50 to 80 until the 20 th century anthrax infections killed hundreds of thousands of people and other animals each year anthrax has been developed as a weapon by a number of countries in plant eating animals infection occurs when they eat or breathe in the spores while grazing carnivores may become infected by eating infected animals
brucellosis
brucellosis is a highly contagious zoonosis caused by ingestion of unpasteurized milk or undercooked meat from infected animals or close contact with their secretions brucella species are small gram negative nonmotile nonspore forming rod shaped coccobacilli bacteria they function as facultative intracellular parasites causing chronic disease which usually persists for life four species infect humans b abortus b canis b melitensis and b suis b abortus is less virulent than b melitensis and is primarily a disease of cattle b canis affects dogs b melitensis is the most virulent and invasive species it usually infects goats and occasionally sheep b suis is of intermediate virulence and chiefly infects pigs symptoms include profuse sweating and joint and muscle p
brucellosis is a highly contagious zoonosis caused by ingestion of unpasteurized milk or undercooked meat from infected animals or close contact with their secretions brucella species are small gram negative nonmotile nonspore forming rod shaped coccobacilli bacteria they function as facultative intracellular parasites causing chronic disease which usually persists for life four species infect humans b abortus b canis b melitensis and b suis b abortus is less virulent than b melitensis and is primarily a disease of cattle b canis affects dogs b melitensis is the most virulent and invasive species it usually infects goats and occasionally sheep b suis is of intermediate virulence and chiefly infects pigs symptoms include profuse sweating and joint and muscle pain brucellosis has been recognized in animals and humans since the 20 th century
glanders
glanders from middle english glaundres or old french glandres both meaning glands latin malleus german rotz also known as equinia farcy and malleus is an infectious disease that occurs primarily in horses mules and donkeys it can be contracted by other animals such as dogs cats goats and humans it is caused by infection with the bacterium burkholderia mallei usually by ingestion of contaminated feed or water signs of glanders include the formation of nodular lesions in the lungs and ulceration of the mucous membranes in the upper respiratory tract the acute form results in coughing fever and the release of an infectious nasal discharge followed by septicaemia and death within days in the chronic form nasal and subcutaneous nodules develop eventually ulcerati
glanders from middle english glaundres or old french glandres both meaning glands latin malleus german rotz also known as equinia farcy and malleus is an infectious disease that occurs primarily in horses mules and donkeys it can be contracted by other animals such as dogs cats goats and humans it is caused by infection with the bacterium burkholderia mallei usually by ingestion of contaminated feed or water signs of glanders include the formation of nodular lesions in the lungs and ulceration of the mucous membranes in the upper respiratory tract the acute form results in coughing fever and the release of an infectious nasal discharge followed by septicaemia and death within days in the chronic form nasal and subcutaneous nodules develop eventually ulcerating death can occur within months while survivors act as carriers glanders is endemic in africa asia the middle east and central and south america it has been eradicated from north america australia and most of europe through surveillance and destruction of affected animals and import restrictions b mallei is able to infect humans so is classed as a zoonotic agent transmission occurs by direct contact with infected animals and entry is through skin abrasions nasal and oral mucosal surfaces or by inhalation the mallein test is a sensitive and specific clinical test for glanders mallein atcvet code qi 05 ar 01 who a protein fraction of the glanders organism b mallei is injected intradermopalpebrally or given by eye drop in infected animals the eyelid swells markedly in 1 to 2 days glanders has not been reported in the united states since 1945 except in 2000 when an american lab researcher suffered from accidental exposure it is a notifiable disease in the uk although it has not been reported there since 1928
melioidosis
melioidosis is an infectious disease caused by a gram negative bacterium burkholderia pseudomallei found in soil and water it is of public health importance in endemic areas particularly in vietnam and northern australia it exists in acute and chronic forms signs and symptoms may include pain in chest bones or joints cough skin infections lung nodules and pneumonia
rat bite fever
rat bite fever is an acute febrile human illness caused by bacteria transmitted by rodents rats or mice in most cases which is passed from rodent to human by the rodent s urine or mucous secretions alternative names for rat bite fever include streptobacillary fever streptobacillosis spirillary fever sodoku and epidemic arthritic erythema it is a rare disease spread by infected rodents and can be caused by two specific types of bacteria most cases occur in japan but specific strains of the disease are present in the united states europe australia and africa some cases are diagnosed after patients were exposed to the urine or bodily secretions of an infected animal these secretions can come from the mouth nose or eyes of the rodent the majority of cases are due to the ani
rat bite fever is an acute febrile human illness caused by bacteria transmitted by rodents rats or mice in most cases which is passed from rodent to human by the rodent s urine or mucous secretions alternative names for rat bite fever include streptobacillary fever streptobacillosis spirillary fever sodoku and epidemic arthritic erythema it is a rare disease spread by infected rodents and can be caused by two specific types of bacteria most cases occur in japan but specific strains of the disease are present in the united states europe australia and africa some cases are diagnosed after patients were exposed to the urine or bodily secretions of an infected animal these secretions can come from the mouth nose or eyes of the rodent the majority of cases are due to the animal s bite it can also be transmitted throughout food or water contaminated with rat feces or urine other animals can be infected with this disease including weasels gerbils and squirrels household pets such as dogs or cats exposed to these animals can also carry the disease and infect humans if a person is bitten by a rodent it is important to quickly wash and cleanse the wound area thoroughly with antiseptic solution to reduce the risk of infection
leptospirosis
leptospirosis is an infection caused by corkscrew shaped bacteria called leptospira signs and symptoms can range from none to mild such as headaches muscle pains and fevers to severe with bleeding from the lungs or meningitis if the infection causes the person to turn yellow have kidney failure and bleeding it is then known as weil s disease if it causes lots of bleeding from the lungs it is known as severe pulmonary hemorrhage syndrome
cat scratch disease
cat scratch disease csd is a common and usually benign infectious disease caused by the bacterium bartonella henselae it is most commonly found in children following a scratch or bite from a cat within about one to two weeks
leprosy
leprosy also known as hansen s disease hd is a long term infection caused by the bacilli mycobacterium leprae and mycobacterium lepromatosis initially infections are without symptoms and typically remain this way for 5 to 20 years symptoms that develop include granulomas of the nerves respiratory tract skin and eyes this may result in a lack of ability to feel pain and thus loss of parts of extremities due to repeated injuries or infection due to unnoticed wounds weakness and poor eyesight may also be present
buruli ulcer
buruli ulcer also known as the bairnsdale ulcer searls ulcer or daintree ulcer is an infectious disease caused by mycobacterium ulcerans the early stage of the infection is characterised by a painless nodule or area of swelling this nodule can turn into an ulcer the ulcer may be larger inside than at the surface of the skin and can be surrounded by swelling as the disease worsens bone can be infected buruli ulcers most commonly affect the arms or legs fever is uncommon
listeriosis
listeriosis is a bacterial infection most commonly caused by listeria monocytogenes although l ivanovii and l grayi have been reported in certain cases listeria primarily causes infections of the central nervous system meningitis meningoencephalitis brain abscess cerebritis and bacteremia in those who are immunocompromised pregnant women and those at the extremes of age newborns and the elderly as well as gastroenteritis in healthy persons who have been severely infected listeria is ubiquitous and is primarily transmitted via the oral route after ingestion of contaminated food products after which the organism penetrates the intestinal tract to cause systemic infections the diagnosis of listeriosis requires the isolation of the organism from the blood and or the cerebrospi
listeriosis is a bacterial infection most commonly caused by listeria monocytogenes although l ivanovii and l grayi have been reported in certain cases listeria primarily causes infections of the central nervous system meningitis meningoencephalitis brain abscess cerebritis and bacteremia in those who are immunocompromised pregnant women and those at the extremes of age newborns and the elderly as well as gastroenteritis in healthy persons who have been severely infected listeria is ubiquitous and is primarily transmitted via the oral route after ingestion of contaminated food products after which the organism penetrates the intestinal tract to cause systemic infections the diagnosis of listeriosis requires the isolation of the organism from the blood and or the cerebrospinal fluid treatment includes prolonged administration of antibiotics primarily ampicillin and gentamicin to which the organism is usually susceptible
tetanus
tetanus also known as lockjaw is an infection characterized by muscle spasms in the most common type the spasms begin in the jaw and then progress to the rest of the body these spasms usually last a few minutes each time and occur frequently for three to four weeks spasms may be so severe that bone fractures may occur other symptoms may include fever sweating headache trouble swallowing high blood pressure and a fast heart rate onset of symptoms is typically three to twenty one days following infection it may take months to recover about 10 of those infected die
diphtheria
diphtheria is an infection caused by the bacterium corynebacterium diphtheriae signs and symptoms may vary from mild to severe they usually start two to five days after exposure symptoms often come on fairly gradually beginning with a sore throat and fever in severe cases a grey or white patch develops in the throat this can block the airway and create a barking cough as in croup the neck may swell in part due to large lymph nodes a form of diphtheria that involves the skin eyes or genitals also exists complications may include myocarditis inflammation of nerves kidney problems and bleeding problems due to low blood platelets myocarditis may result in an abnormal heart rate and inflammation of the nerves may result in paralysis
pertussis
pertussis also known as whooping cough or 100 day cough is a highly contagious bacterial disease initially symptoms are usually similar to those of the common cold with a runny nose fever and mild cough this is then followed by weeks of severe coughing fits following a fit of coughing a high pitched whoop sound or gasp may occur as the person breathes in the coughing may last for 10 or more weeks hence the phrase 100 day cough a person may cough so hard that they vomit break ribs or become very tired from the effort children less than one year old may have little or no cough and instead have periods where they do not breathe the time between infection and the onset of symptoms is usually seven to ten days disease may occur in those who have been vaccinated but symptoms
pertussis also known as whooping cough or 100 day cough is a highly contagious bacterial disease initially symptoms are usually similar to those of the common cold with a runny nose fever and mild cough this is then followed by weeks of severe coughing fits following a fit of coughing a high pitched whoop sound or gasp may occur as the person breathes in the coughing may last for 10 or more weeks hence the phrase 100 day cough a person may cough so hard that they vomit break ribs or become very tired from the effort children less than one year old may have little or no cough and instead have periods where they do not breathe the time between infection and the onset of symptoms is usually seven to ten days disease may occur in those who have been vaccinated but symptoms are typically milder pertussis is caused by the bacterium bordetella pertussis it is an airborne disease which spreads easily through the coughs and sneezes of an infected person people are infectious to others from the start of symptoms until about three weeks into the coughing fits those treated with antibiotics are no longer infectious after five days diagnosis is by collecting a sample from the back of the nose and throat this sample can then be tested by either culture or by polymerase chain reaction prevention is mainly by vaccination with the pertussis vaccine initial immunization is recommended between six and eight weeks of age with four doses to be given in the first two years of life the vaccine becomes less effective over time with additional doses often recommended for older children and adults antibiotics may be used to prevent the disease in those who have been exposed and are at risk of severe disease in those with the disease antibiotics are useful if started within three weeks of the initial symptoms but otherwise have little effect in most people in children less than one year old and among those who are pregnant they are recommended within six weeks of symptom onset antibiotics used include erythromycin azithromycin clarithromycin or trimethoprim sulfamethoxazole evidence to support interventions other than antibiotics for the cough is poor many children less than a year of age require hospitalization an estimated 16 million people worldwide are infected per year most cases occur in the developing world and people of all ages may be affected in 2013 it resulted in 61 000 deaths – down from 138 000 deaths in 1990 nearly 0 5 of infected children less than one year of age die outbreaks of the disease were first described in the 16 th century the bacterium that causes the infection was discovered in 1906 the pertussis vaccine became available in the 1940 s
scarlet fever
scarlet fever can occur as a result of a group a streptococcus group a strep infection the signs and symptoms include a sore throat fever headaches swollen lymph nodes and a characteristic rash the rash is red and feels like sandpaper and the tongue may be red and bumpy it most commonly affects children between five and fifteen years of age
exanthem
an exanthem or exanthema from greek ἐξάνθημα exánthēma a breaking out is a widespread rash usually occurring in children an exanthem can be caused by toxins drugs or microorganisms or can result from autoimmune disease it can be contrasted with an enanthem
waterhouse – friderichsen syndrome
waterhouse – friderichsen syndrome wfs hemorrhagic adrenalitis or fulminant meningococcemia is defined as adrenal gland failure due to bleeding into the adrenal glands commonly caused by severe bacterial infection typically the pathogen is the meningococcus neisseria meningitidis
sepsis
sepsis is a life threatening condition that arises when the body s response to infection injures its own tissues and organs common signs and symptoms include fever increased heart rate increased breathing rate and confusion there may also be symptoms related to a specific infection such as a cough with pneumonia or painful urination with a kidney infection in the very young old and people with a weakened immune system there may be no symptoms of a specific infection and the body temperature may be low or normal rather than high severe sepsis is sepsis causing poor organ function or insufficient blood flow insufficient blood flow may be evident by low blood pressure high blood lactate or low urine output septic shock is low blood pressure due to sepsis that does not improve
sepsis is a life threatening condition that arises when the body s response to infection injures its own tissues and organs common signs and symptoms include fever increased heart rate increased breathing rate and confusion there may also be symptoms related to a specific infection such as a cough with pneumonia or painful urination with a kidney infection in the very young old and people with a weakened immune system there may be no symptoms of a specific infection and the body temperature may be low or normal rather than high severe sepsis is sepsis causing poor organ function or insufficient blood flow insufficient blood flow may be evident by low blood pressure high blood lactate or low urine output septic shock is low blood pressure due to sepsis that does not improve after reasonable amounts of intravenous fluids are given sepsis is caused by an immune response triggered by an infection the infection is most commonly bacterial but it can be from fungi viruses or parasites common locations for the primary infection include lungs brain urinary tract skin and abdominal organs risk factors include young or old age a weakened immune system from conditions such as cancer or diabetes and major trauma or burns diagnosis was based on meeting at least two systemic inflammatory response syndrome sirs criteria due to a presumed infection in 2016 screening by sirs was replaced with qsofa which is two of the following three increased breathing rate change in level of consciousness and low blood pressure blood cultures are recommended preferably before antibiotics are started however infection of the blood is not required for the diagnosis medical imaging should be done to look for the possible location of infection other potential causes of similar signs and symptoms include anaphylaxis adrenal insufficiency low blood volume heart failure and pulmonary embolism among others sepsis is usually treated with intravenous fluids and antibiotics antibiotics are typically given as soon as possible this is often done in an intensive care unit if fluid replacement is not enough to maintain blood pressure medications that raise blood pressure can be used mechanical ventilation and dialysis may be needed to support the function of the lungs and kidneys respectively to guide treatment a central venous catheter and an arterial catheter may be placed for access to the bloodstream other measurements such as cardiac output and superior vena cava oxygen saturation may be used people with sepsis need preventive measures for deep vein thrombosis stress ulcers and pressure ulcers unless other conditions prevent such interventions some might benefit from tight control of blood sugar levels with insulin the use of corticosteroids is controversial activated drotrecogin alfa originally marketed for severe sepsis has not been found to be helpful and was withdrawn from sale in 2011 disease severity partly determines the outcome with the risk of death from sepsis being as high as 30 severe sepsis as high as 50 and septic shock as high as 80 the number of cases worldwide is unknown as there is little data from the developing world estimates suggest sepsis affects millions of people a year in the developed world about 0 2 to 3 per 1000 people get sepsis yearly or about a million cases per year in the united states rates of disease have been increasing sepsis is more common among males than females the condition has been described at least since the time of hippocrates the terms septicemia and blood poisoning referred to the microorganisms or their toxins in the blood and are no longer commonly used
janeway lesion
janeway lesions are non tender small erythematous or haemorrhagic macular or nodular lesions on the palms or soles only a few millimeters in diameter that are indicative of infective endocarditis pathologically the lesion is described to be a microabscess of the dermis with marked necrosis and inflammatory infiltrate not involving the epidermis they are caused by septic emboli which deposit bacteria forming microabscesses janeway lesions are distal flat ecchymotic and painless
janeway lesions are non tender small erythematous or haemorrhagic macular or nodular lesions on the palms or soles only a few millimeters in diameter that are indicative of infective endocarditis pathologically the lesion is described to be a microabscess of the dermis with marked necrosis and inflammatory infiltrate not involving the epidermis they are caused by septic emboli which deposit bacteria forming microabscesses janeway lesions are distal flat ecchymotic and painless osler s nodes and janeway lesions are similar but osler s nodes present with tenderness and are of immunologic origin
actinomycosis
bartonellosis
bartonellosis is an infectious disease produced by bacteria of the genus bartonella bartonella species cause diseases such as carrión ´ s disease trench fever cat scratch disease bacillary angiomatosis peliosis hepatis chronic bacteremia endocarditis chronic lymphadenopathy and neurological disorders
carrion s disease
oroya fever or carrion s disease is an infectious disease produced by bartonella bacilliformis infection it is named after daniel alcides carrión
bacillary angiomatosis
erysipelas
erysipelas ɛrᵻˈsɪpələs greek ἐρυσίπελας red skin also known as ignis sacer holy fire and st anthony s fire in some countries is an acute infection typically with a skin rash usually on any of the legs and toes face arms and fingers it is an infection of the upper dermis and superficial lymphatics usually caused by beta hemolytic group a streptococcus bacteria on scratches or otherwise infected areas erysipelas is more superficial than cellulitis and is typically more raised and demarcated
gas gangrene
gas gangrene also known as clostridial myonecrosis and myonecrosis is a bacterial infection that produces gas in tissues in gangrene this deadly form of gangrene usually is caused by clostridium perfringens bacteria it is a medical emergency about 1000 cases of gas gangrene occur yearly in the united states other causes of myonecrosis include envenomation by snakes of the bothrops genus family viperidae ischemic necrosis caused by vascular blockage e g diabetes type ii tumours that block or hoard blood supply and disseminated intravascular coagulation or other thromboses
legionnaires disease
legionnaires disease is a form of atypical pneumonia caused by any type of legionella bacteria signs and symptoms include cough shortness of breath high fever muscle pains and headaches nausea vomiting and diarrhea may also occur this often begins two to ten days after being exposed there is no vaccine prevention depends on good maintenance of water systems treatment of legionnaires disease is with antibiotics recommended agents include fluoroquinolones azithromycin or doxycycline hospitalization is often required about 10 of those who are infected die
legionnaires disease is a form of atypical pneumonia caused by any type of legionella bacteria signs and symptoms include cough shortness of breath high fever muscle pains and headaches nausea vomiting and diarrhea may also occur this often begins two to ten days after being exposed the bacterium is found naturally in fresh water it can contaminate hot water tanks hot tubs and cooling towers of large air conditioners it is usually spread by breathing in mist that contains the bacteria it can also occur when contaminated water is aspirated it typically does not spread directly between people and most people who are exposed do not become infected risk factors for infection include older age history of smoking chronic lung disease and poor immune function it is recommended that those with severe pneumonia and those with pneumonia and a recent travel history be tested for the disease diagnosis is by a urinary antigen test and sputum culture there is no vaccine prevention depends on good maintenance of water systems treatment of legionnaires disease is with antibiotics recommended agents include fluoroquinolones azithromycin or doxycycline hospitalization is often required about 10 of those who are infected die the number of cases that occur globally is not known it is estimated that legionnaires disease is the cause of between two and nine percent of pneumonia cases that occur in the community there are an estimated 8 000 to 18 000 cases a year in the united states that require hospitalization outbreaks of disease account for a minority of cases while it can occur any time of the year it is more common in the summer and fall the disease is named after the outbreak where it was first identified the 1976 american legion convention in philadelphia
toxic shock syndrome
toxic shock syndrome tss is a potentially fatal illness caused by a bacterial toxin different bacterial toxins may cause toxic shock syndrome depending on the situation the causative bacteria include staphylococcus aureus where tss is caused by enterotoxin type b or tsst 1 and streptococcus pyogenes where it is caused by streptococcal pyrogenic exotoxins streptococcal tss is sometimes referred to as toxic shock like syndrome tsls or streptococcal toxic shock syndrome stss
bacteremia
bacteremia also bacteraemia is the presence of bacteria in the blood blood is normally a sterile environment so the detection of bacteria in the blood most commonly accomplished by blood cultures is always abnormal bacteria can enter the bloodstream as a severe complication of infections like pneumonia or meningitis during surgery especially when involving mucous membranes such as the gastrointestinal tract or due to catheters and other foreign bodies entering the arteries or veins including during intravenous drug abuse
bacteremia also bacteraemia is the presence of bacteria in the blood blood is normally a sterile environment so the detection of bacteria in the blood most commonly accomplished by blood cultures is always abnormal bacteria can enter the bloodstream as a severe complication of infections like pneumonia or meningitis during surgery especially when involving mucous membranes such as the gastrointestinal tract or due to catheters and other foreign bodies entering the arteries or veins including during intravenous drug abuse bacteremia can have several consequences the immune response to the bacteria can cause sepsis and septic shock which has a relatively high mortality rate bacteria can also use the blood to spread to other parts of the body which is called hematogenous spread causing infections away from the original site of infection examples include endocarditis or osteomyelitis treatment is with antibiotics and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected
syphilis
syphilis is a sexually transmitted infection caused by the bacterium treponema pallidum subspecies pallidum the signs and symptoms of syphilis vary depending in which of the four stages it presents primary secondary latent and tertiary the primary stage classically presents with a single chancre a firm painless non itchy skin ulceration but there may be multiple sores in secondary syphilis a diffuse rash occurs which frequently involves the palms of the hands and soles of the feet there may also be sores in the mouth or vagina in latent syphilis which can last for years there are little to no symptoms in tertiary syphilis there are gummas soft non cancerous growths neurological or heart symptoms syphilis has been known as the great imitator as it may cause symptoms
syphilis is a sexually transmitted infection caused by the bacterium treponema pallidum subspecies pallidum the signs and symptoms of syphilis vary depending in which of the four stages it presents primary secondary latent and tertiary the primary stage classically presents with a single chancre a firm painless non itchy skin ulceration but there may be multiple sores in secondary syphilis a diffuse rash occurs which frequently involves the palms of the hands and soles of the feet there may also be sores in the mouth or vagina in latent syphilis which can last for years there are little to no symptoms in tertiary syphilis there are gummas soft non cancerous growths neurological or heart symptoms syphilis has been known as the great imitator as it may cause symptoms similar to many other diseases syphilis is most commonly spread through sexual activity it may also be transmitted from mother to baby during pregnancy or at birth resulting in congenital syphilis other human diseases caused by related treponema pallidum subspecies include yaws subspecies pertenue pinta subspecies carateum and bejel subspecies endemicum diagnosis is usually made by using blood tests the bacteria can also be detected using dark field microscopy the center for disease control recommends all pregnant women be tested the risk of syphilis can be decreased by latex condom use or not having sex syphilis can be effectively treated with antibiotics the preferred antibiotic for most cases is benzathine penicillin g injected into a muscle in those who have a severe penicillin allergy doxycycline or tetracycline may be used in those with neurosyphilis intravenous penicillin g potassium or ceftriaxone is recommended during treatment people may develop fever headache and muscle pains a reaction known as jarisch herxheimer in 2012 about 0 5 of adults were infected with syphilis with 6 million new cases during 2010 it caused about 113 000 deaths down from 202 000 in 1990 after decreasing dramatically with the availability of penicillin in the 1940 s rates of infection have increased since the turn of the millennium in many countries often in combination with human immunodeficiency virus hiv this is believed to be partly due to increased promiscuity prostitution decreasing use of condoms and unsafe sexual practices among men who have sex with men in 2015 cuba became the first country in the world to eliminate mother to child transmission of syphilis
condyloma
general paresis of the insane
general paresis also known as general paralysis of the insane or paralytic dementia is a severe neuropsychiatric disorder classified as an organic mental disorder and caused by the chronic meningoencephalitis that leads to cerebral atrophy in late stage syphilis degenerative changes are associated primarily with the frontal and temporal lobar cortex the disease affects approximately 7 of infected individuals it prevails among men
argyll robertson pupil
argyll robertson pupils ar pupils or colloquially prostitute s pupils are bilateral small pupils that reduce in size on a near object i e they accommodate but do not constrict when exposed to bright light i e they do not react to light they are a highly specific sign of neurosyphilis however argyll robertson pupils may also be a sign of diabetic neuropathy in general pupils that accommodate but do not react are said to show light near dissociation i e it is the absence of a miotic reaction to light both direct and consensual with the preservation of a miotic reaction to near stimulus accommodation convergence
argyll robertson pupils ar pupils or colloquially prostitute s pupils are bilateral small pupils that reduce in size on a near object i e they accommodate but do not constrict when exposed to bright light i e they do not react to light they are a highly specific sign of neurosyphilis however argyll robertson pupils may also be a sign of diabetic neuropathy in general pupils that accommodate but do not react are said to show light near dissociation i e it is the absence of a miotic reaction to light both direct and consensual with the preservation of a miotic reaction to near stimulus accommodation convergence ar pupils are extremely uncommon in the developed world there is continued interest in the underlying pathophysiology but the scarcity of cases makes ongoing research difficult
gonorrhea
gonorrhea also spelled gonorrhoea is a sexually transmitted infection caused by the bacterium neisseria gonorrhoeae many people have no symptoms men may have burning with urination discharge from the penis or testicular pain women may have burning with urination vaginal discharge vaginal bleeding between periods or pelvic pain complications in women include pelvic inflammatory disease and in men include inflammation of the epididymis if untreated gonorrhea can occasionally spread to affect joints or heart valves
neonatal conjunctivitis
neonatal conjunctivitis also known as ophthalmia neonatorum is a form of conjunctivitis and a type of neonatal infection contracted by newborns during delivery the baby s eyes are contaminated during passage through the birth canal from a mother infected with either neisseria gonorrhoeae or chlamydia trachomatis antibiotic ointment is typically applied to the newborn s eyes within 1 hour of birth as prevention against gonococcal ophthalmia if left untreated it can cause blindness
lymphogranuloma venereum
lymphogranuloma venereum lgv also known as climatic bubo durand – nicolas – favre disease poradenitis inguinale and strumous bubo is a sexually transmitted disease caused by the invasive serovars l 1 l 2 l 2 a or l 3 of chlamydia trachomatis in developed nations it was considered rare before 2003 however a recent outbreak in the netherlands among gay men has led to an increase of lgv in europe and the united states a majority of these patients are hiv co infected
chlamydia infection
chlamydia infection often simply known as chlamydia is a sexually transmitted infection caused by the bacterium chlamydia trachomatis most people who are infected have no symptoms when symptoms do develop this can take a few weeks following infection to occur symptoms in women may include vaginal discharge or burning with urination symptoms in men may include discharge from the penis burning with urination or pain and swelling of one or both testicles the infection can spread to the upper genital tract in women causing pelvic inflammatory disease which may result in future infertility or ectopic pregnancy repeated infections of the eyes that go without treatment can result in trachoma a common cause of blindness in the developing world
chlamydia infection often simply known as chlamydia is a sexually transmitted infection caused by the bacterium chlamydia trachomatis most people who are infected have no symptoms when symptoms do develop this can take a few weeks following infection to occur symptoms in women may include vaginal discharge or burning with urination symptoms in men may include discharge from the penis burning with urination or pain and swelling of one or both testicles the infection can spread to the upper genital tract in women causing pelvic inflammatory disease which may result in future infertility or ectopic pregnancy repeated infections of the eyes that go without treatment can result in trachoma a common cause of blindness in the developing world chlamydia can be spread during vaginal anal or oral sex and can be passed from an infected mother to her baby during childbirth the eye infections may also be spread by personal contact flies and contaminated towels in areas with poor sanitation chlamydia trachomatis only occurs in humans diagnosis is often by screening which is recommended yearly in sexually active women under the age of twenty five others at higher risk and at the first prenatal visit testing can be done on the urine or a swab of the cervix vagina or urethra rectal or mouth swabs are required to diagnose infections in those areas prevention is by not having sex using condoms or having sex with only one other person who is not infected chlamydia can be cured by antibiotics with typically either azithromycin or doxycycline being used erythromycin or azithromycin is recommended in babies and during pregnancy sexual partners should also be treated and the infected people advised not to have sex for seven days and until symptom free gonorrhea syphilis and hiv should be tested for in those who have been infected following treatment people should be tested again after three months chlamydia is one of the most common sexually transmitted infections worldwide affecting about 4 2 of women and 2 7 of men in 2013 about 141 million new cases occurred globally in the united states about 1 4 million cases were reported in 2014 infections are most common among those between the ages of 15 and 25 and are more common in women than men in 2013 infections resulted in about 1 100 deaths the word chlamydia is from the greek χλαμύδα meaning cloak
chancroid
chancroid also known as soft chancre and ulcus molle is a bacterial sexually transmitted infection characterized by painful sores on the genitalia chancroid is known to spread from one individual to another solely through sexual contact
granuloma inguinale
granuloma inguinale also known as donovanosis is a bacterial disease caused by klebsiella granulomatis formerly known as calymmatobacterium granulomatis characterized by ulcerative genital lesions it is endemic in many less developed regions it is also known as donovanosis granuloma genitoinguinale granuloma inguinale tropicum granuloma venereum granuloma venereum genitoinguinale lupoid form of groin ulceration serpiginous ulceration of the groin ulcerating granuloma of the pudendum and ulcerating sclerosing granuloma
granuloma inguinale also known as donovanosis is a bacterial disease caused by klebsiella granulomatis formerly known as calymmatobacterium granulomatis characterized by ulcerative genital lesions it is endemic in many less developed regions it is also known as donovanosis granuloma genitoinguinale granuloma inguinale tropicum granuloma venereum granuloma venereum genitoinguinale lupoid form of groin ulceration serpiginous ulceration of the groin ulcerating granuloma of the pudendum and ulcerating sclerosing granuloma the disease often goes untreated because of the scarcity of medical treatment in the countries in which it is found in addition the painless genital ulcers can be mistaken for syphilis the ulcers ultimately progress to destruction of internal and external tissue with extensive leakage of mucus and blood from the highly vascular lesions the destructive nature of donovanosis also increases the risk of superinfection by other pathogenic microbes
trichomoniasis
trichomoniasis is an infectious disease caused by the parasite trichomonas vaginalis about 70 of women and men do not have symptoms when infected when symptoms do occur they typically begin 5 to 28 days after exposure symptoms can include itching in the genital area a bad smelling thin vaginal discharge burning with urination and pain with sex having trichomoniasis increases the risk of getting hiv aids it may also cause complications during pregnancy
herpes simplex
herpes simplex greek ἕρπης herpēs creeping or latent is a viral disease caused by the herpes simplex virus infections are categorized based on the part of the body infected oral herpes involves the face or mouth it may result in small blisters in groups often called cold sores or fever blisters or may just cause a sore throat genital herpes often simply known as herpes may have minimal symptoms or form blisters that break open and result in small ulcers these typically heal over two to four weeks tingling or shooting pains may occur before the blisters appear herpes cycles between periods of active disease followed by periods without symptoms the first episode is often more severe and may be associated with fever muscle pains swollen lymph nodes and headaches over time
herpes simplex greek ἕρπης herpēs creeping or latent is a viral disease caused by the herpes simplex virus infections are categorized based on the part of the body infected oral herpes involves the face or mouth it may result in small blisters in groups often called cold sores or fever blisters or may just cause a sore throat genital herpes often simply known as herpes may have minimal symptoms or form blisters that break open and result in small ulcers these typically heal over two to four weeks tingling or shooting pains may occur before the blisters appear herpes cycles between periods of active disease followed by periods without symptoms the first episode is often more severe and may be associated with fever muscle pains swollen lymph nodes and headaches over time episodes of active disease decrease in frequency and severity other disorders caused by herpes simplex include herpetic whitlow when it involves the fingers herpes of the eye herpes infection of the brain and neonatal herpes when it affects a newborn among others there are two types of herpes simplex virus type 1 hsv 1 and type 2 hsv 2 hsv 1 more commonly causes oral infections while hsv 2 more commonly causes genital infections they are transmitted by direct contact with body fluids or lesions of an infected individual transmission may still occur when symptoms are not present genital herpes is classified as a sexually transmitted infection it may be spread to an infant during childbirth after infection the viruses are transported along sensory nerves to the nerve cell bodies where they reside lifelong causes of recurrence may include decreased immune function stress and sunlight exposure oral and genital herpes is usually diagnosed based on the presenting symptoms the diagnosis may be confirmed by viral culture or detecting herpes dna in fluid from blisters testing the blood for antibodies against the virus can confirm a previous infection but will be negative in new infections the most effective method of avoiding genital infections is by avoiding vaginal oral and anal sex condom use decreases the risk somewhat daily antiviral medication taken by someone who has the infection can also reduce spread there is no available vaccine and once infected there is no cure paracetamol acetaminophen and topical lidocaine may be used to help with the symptoms treatments with antiviral medication such as aciclovir or valaciclovir can lessen the severity of symptomatic episodes worldwide rates of either hsv 1 or hsv 2 are between 60 and 95 in adults hsv 1 is usually acquired during childhood rates of both increase as people age rates of hsv 1 are between 70 and 80 in populations of low socioeconomic status and 40 to 60 in populations of improved socioeconomic status an estimated 536 million people worldwide 16 of the population were infected with hsv 2 as of 2003 with greater rates among women and those in the developing world most people with hsv 2 do not realize that they are infected
genital wart
genital warts are symptoms of a contagious sexually transmitted disease caused by some types of human papillomavirus hpv warts are the most easily recognized symptom of genital hpv infection about 90 of those who contract hpv will not develop genital warts and the remaining 10 who are infected can transmit the virus the some hpv vaccines includes coverage for types 6 and 11 and therefore can prevent genital warts it is also possible to be infected with different types of hpv either at the same or different times
sexually transmitted infection
sexual disease redirects here it is not to be confused with sexual dysfunction sexually transmitted infections sti also referred to as sexually transmitted diseases std and venereal diseases vd are infections that are commonly spread by sex especially vaginal intercourse anal sex and oral sex most stis initially do not cause symptoms this results in a greater risk of passing the disease on to others symptoms and signs of disease may include vaginal discharge penile discharge ulcers on or around the genitals and pelvic pain stis acquired before or during birth may result in poor outcomes for the baby some stis may cause problems with the ability to get pregnant
sexual disease redirects here it is not to be confused with sexual dysfunction sexually transmitted infections sti also referred to as sexually transmitted diseases std and venereal diseases vd are infections that are commonly spread by sex especially vaginal intercourse anal sex and oral sex most stis initially do not cause symptoms this results in a greater risk of passing the disease on to others symptoms and signs of disease may include vaginal discharge penile discharge ulcers on or around the genitals and pelvic pain stis acquired before or during birth may result in poor outcomes for the baby some stis may cause problems with the ability to get pregnant more than 30 different bacteria viruses and parasites can cause stis bacterial stis include chlamydia gonorrhea and syphilis among others viral stis include genital herpes hiv aids and genital warts among others parasitic stis include trichomoniasis among others while usually spread by sex some stis can also be spread by non sexual contact with contaminated blood and tissues breastfeeding or during childbirth sti diagnostic tests are easily available in the developed world but this is often not the case in the developing world the most effective way of preventing stis is by not having sex some vaccinations may also decrease the risk of certain infections including hepatitis b and some types of hpv safer sex practices such as use of condoms having a smaller number of sexual partners and being in a relationship where each person only has sex with the other also decreases the risk circumcision in males may be effective to prevent some infections most stis are treatable or curable of the most common infections syphilis gonorrhea chlamydia trichomoniasis are curable while herpes hepatitis b hiv aids and hpv are treatable but not curable resistance to certain antibiotics is developing among some organisms such as gonorrhea in 2008 it was estimated that 500 million people were infected with either syphilis gonorrhea chlamydia or trichomoniasis at least an additional 530 million people have genital herpes and 290 million women have human papillomavirus stis other than hiv resulted in 142 000 deaths in 2013 in the united states there were 19 million new cases of sexually transmitted infections in 2010 historical documentation of stis date back to at least the ebers papyrus around 1550 bc and the old testament there is often shame and stigma associated with these infections the term sexually transmitted infection is generally preferred over the terms sexually transmitted disease and venereal disease as it includes those who do not have symptomatic disease
nonvenereal endemic syphilis
bejel or endemic syphilis is a chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete treponema pallidum bejel is also known by a variety of other names including belesh dichuchwa endemic syphilis nonvenereal syphilis frenga njovera skerljevo siti or treponematosis bejel type
yaws
yaws is a tropical infection of the skin bones and joints caused by the spirochete bacterium treponema pallidum pertenue the disease begins with a round hard swelling of the skin 2 to 5 centimeters in diameter the center may break open and form an ulcer this initial skin lesion typically heals after three to six months after weeks to years joints and bones may become painful fatigue may develop and new skin lesions may appear the skin of the palms of the hands and the soles of the feet may become thick and break open the bones especially those of the nose may become misshapen after five years or more large areas of skin may die leaving a scar
pinta disease
acute necrotizing ulcerative gingivitis
acute necrotizing ulcerative gingivitis anug colloquially known as trench mouth is a common non contagious infection of the gums with sudden onset the main features are painful bleeding gums and ulceration of inter dental papillae the sections of gum between adjacent teeth this disease along with necrotizing ulcerative periodontitis np or nup is classified as a necrotizing periodontal disease one of the seven general types of periodontitis the often severe gingival pain that characterizes anug distinguishes it from the more common chronic periodontitis which is rarely painful anug is the acute presentation of necrotizing ulcerative gingivitis nug which is the usual course the disease takes if improperly treated or neglected nug may become chronic and or recurrent th
acute necrotizing ulcerative gingivitis anug colloquially known as trench mouth is a common non contagious infection of the gums with sudden onset the main features are painful bleeding gums and ulceration of inter dental papillae the sections of gum between adjacent teeth this disease along with necrotizing ulcerative periodontitis np or nup is classified as a necrotizing periodontal disease one of the seven general types of periodontitis the often severe gingival pain that characterizes anug distinguishes it from the more common chronic periodontitis which is rarely painful anug is the acute presentation of necrotizing ulcerative gingivitis nug which is the usual course the disease takes if improperly treated or neglected nug may become chronic and or recurrent the causative organisms are mostly anaerobic bacteria particularly fusobacteria and spirocaete species predisposing factors include poor oral hygiene smoking malnutrition psychological stress and immunosuppression sub optimal functioning of the immune system when the attachments of the teeth to the bone are involved the term nup is used treatment of anug is by debridement although pain may prevent this and antibiotics usually metronidazole in the acute phase and improving oral hygiene to prevent recurrence although the condition has a rapid onset and is debilitating it usually resolves quickly and does no serious harm the synonym trench mouth arose during world war i as many soldiers developed the disease probably because of the poor conditions and extreme psychological stress
lyme disease
lyme disease also known as lyme borreliosis is an infectious disease caused by bacteria of the borrelia type the most common sign of infection is an expanding area of redness known as erythema migrans that begins at the site of a tick bite about a week after it has occurred the rash is typically neither itchy nor painful approximately 25 – 50 of infected people do not develop a rash other early symptoms may include fever headache and feeling tired if untreated symptoms may include loss of the ability to move one or both sides of the face joint pains severe headaches with neck stiffness or heart palpitations among others months to years later repeated episodes of joint pain and swelling may occur occasionally people develop shooting pains or tingling in their arms and legs
psittacosis
psittacosis — also known as parrot fever and ornithosis — is a zoonotic infectious disease caused by a bacterium called chlamydophila psittaci and contracted from infected parrots such as macaws cockatiels and budgerigars and pigeons sparrows ducks hens gulls and many other species of bird the incidence of infection in canaries and finches is believed to be lower than in psittacine birds
trachoma
trachoma also called granular conjunctivitis egyptian ophthalmia and blinding trachoma is an infectious disease caused by bacterium chlamydia trachomatis the infection causes a roughening of the inner surface of the eyelids this roughening can lead to pain in the eyes breakdown of the outer surface or cornea of the eyes and possibly blindness untreated repeated trachoma infections can result in a form of permanent blindness when the eyelids turn inward
typhus
typhus is any of several similar diseases caused by rickettsia bacteria the name comes from the greek typhus τύφος meaning smoky or hazy describing the state of mind of those affected with typhus the causative organism rickettsia is an obligate intracellular parasitic bacterium that cannot survive for long outside living cells it is transmitted to humans via external parasites such as lice fleas and ticks while typhoid means typhus like typhus and typhoid fever are distinct diseases caused by different genera of bacteria
scrub typhus
rocky mountain spotted fever
rocky mountain spotted fever rmsf also known as blue disease is the most lethal and most frequently reported rickettsial illness in the united states it has been diagnosed throughout the americas some synonyms for rocky mountain spotted fever in other countries include “ tick typhus ” “ tobia fever ” colombia “ são paulo fever ” or “ febre maculosa ” brazil and “ fiebre manchada ” mexico it is distinct from the viral tick borne infection colorado tick fever the disease is caused by rickettsia rickettsii a species of bacterium that is spread to humans by dermacentor ticks initial signs and symptoms of the disease include sudden onset of fever headache and muscle pain followed by development of rash the disease can be difficult to diagnose in the early stages and without promp
boutonneuse fever
boutonneuse fever also called mediterranean spotted fever fièvre boutonneuse kenya tick typhus indian tick typhus marseilles fever or african tick bite fever is a fever as a result of a rickettsial infection caused by the bacterium rickettsia conorii and transmitted by the dog tick rhipicephalus sanguineus boutonneuse fever can be seen in many places around the world although it is endemic in countries surrounding the mediterranean sea this disease was first described in tunisia in 1910 by conor and bruch and was named boutonneuse french for spotty due to its papular skin rash characteristics
african tick bite fever
african tick bite fever is a bacterial infection transmitted by the amblyomma dermacentor or the rhipicephalus family of ticks it is caused by the rickettsia africae bacterium the incubation period of the disease is from 5 to 7 days and symptoms include fever headache and a skin rash the rash is characterized by scant lesions often macular and or vesicular
q fever
trench fever
trench fever also known as five day fever quintan fever febris quintana in latin and urban trench fever is a moderately serious disease transmitted by body lice it infected armies in flanders france poland galicia italy salonika macedonia mesopotamia and egypt in world war i three noted sufferers being the authors j r r tolkien a a milne and c s lewis and the german army in russia during world war i from 1915 to 1918 between one fifth and one third of all british troops reported ill had trench fever while about one fifth of ill german and austrian troops had the disease the disease persists among the homeless outbreaks have been documented for example in seattle and baltimore in the united states among injection drug users and in marseille france and bu
trench fever also known as five day fever quintan fever febris quintana in latin and urban trench fever is a moderately serious disease transmitted by body lice it infected armies in flanders france poland galicia italy salonika macedonia mesopotamia and egypt in world war i three noted sufferers being the authors j r r tolkien a a milne and c s lewis and the german army in russia during world war i from 1915 to 1918 between one fifth and one third of all british troops reported ill had trench fever while about one fifth of ill german and austrian troops had the disease the disease persists among the homeless outbreaks have been documented for example in seattle and baltimore in the united states among injection drug users and in marseille france and burundi trench fever is also called wolhynia fever shin bone fever meuse fever his disease and his – werner disease after wilhelm his jr and heinrich werner the disease is caused by the bacterium bartonella quintana older names rochalimea quintana rickettsia quintana found in the stomach walls of the body louse bartonella quintana is closely related to bartonella henselae the agent of cat scratch fever and bacillary angiomatosis
human granulocytic anaplasmosis
human granulocytic anaplasmosis hga is a tick borne infectious disease caused by anaplasma phagocytophilum an obligate intracellular bacterium that is typically transmitted to humans by ticks of the ixodes ricinus species complex including ixodes scapularis and ixodes pacificus in north america these ticks also transmit lyme disease and other tick borne diseases the bacteria infect white blood cells called neutrophils causing changes in gene expression that prolong the life of these otherwise short lived cells
poliomyelitis
poliomyelitis often called polio or infantile paralysis is an infectious disease caused by the poliovirus in about 0 5 of cases there is muscle weakness resulting in an inability to move this can occur over a few hours to few days the weakness most often involves the legs but may less commonly involve the muscles of the head neck and diaphragm many but not all people fully recover in those with muscle weakness about 2 to 5 of children and 15 to 30 of adults die another 25 of people have minor symptoms such as fever and a sore throat and up to 5 have headache neck stiffness and pains in the arms and legs these people are usually back to normal within one or two weeks in up to 70 of infections there are no symptoms years after recovery post polio syndrome may occur with
poliomyelitis often called polio or infantile paralysis is an infectious disease caused by the poliovirus in about 0 5 of cases there is muscle weakness resulting in an inability to move this can occur over a few hours to few days the weakness most often involves the legs but may less commonly involve the muscles of the head neck and diaphragm many but not all people fully recover in those with muscle weakness about 2 to 5 of children and 15 to 30 of adults die another 25 of people have minor symptoms such as fever and a sore throat and up to 5 have headache neck stiffness and pains in the arms and legs these people are usually back to normal within one or two weeks in up to 70 of infections there are no symptoms years after recovery post polio syndrome may occur with a slow development of muscle weakness similar to that which the person had during the initial infection poliovirus is usually spread from person to person through infected fecal matter entering the mouth it may also be spread by food or water containing human feces and less commonly from infected saliva those who are infected may spread the disease for up to six weeks even if no symptoms are present the disease may be diagnosed by finding the virus in the feces or detecting antibodies against it in the blood the disease only occurs naturally in humans the disease is preventable with the polio vaccine however a number of doses are required for it to be effective the us centers for disease control and prevention recommends polio vaccination boosters for travelers and those who live in countries where the disease is occurring once infected there is no specific treatment in 2015 polio affected less than 100 people down from 350 000 cases in 1988 in 2014 the disease was only spreading between people in afghanistan nigeria and pakistan in 2015 nigeria had stopped the spread of wild poliovirus but it reoccurred in 2016 poliomyelitis has existed for thousands of years with depictions of the disease in ancient art the disease was first recognized as a distinct condition by michael underwood in 1789 and the virus that causes it was first identified in 1908 by karl landsteiner major outbreaks started to occur in the late 19 th century in europe and the united states in the 20 th century it became one of the most worrying childhood diseases in these areas the first polio vaccine was developed in the 1950 s by jonas salk it is hoped that vaccination efforts and early detection of cases will result in global eradication of the disease by 2018
transmissible spongiform encephalopathy
transmissible spongiform encephalopathies tses also known as prion diseases are a group of progressive conditions that affect the brain encephalopathies and nervous system of many animals including humans according to the most widespread hypothesis they are transmitted by prions though some other data suggest an involvement of a spiroplasma infection mental and physical abilities deteriorate and myriad tiny holes appear in the cortex causing it to appear like a sponge hence spongiform when brain tissue obtained at autopsy is examined under a microscope the disorders cause impairment of brain function including memory changes personality changes and problems with movement that worsen over time prion diseases of humans include classic creutzfeldt – jakob disease new variant c
prion
a prion is an infectious agent composed entirely of protein material called prp short for prion protein that can fold in multiple structurally distinct ways at least one of which is transmissible to other prion proteins leading to disease that is similar to viral infection they are suspected to be the cause of transmissible spongiform encephalopathies tses among other diseases
a prion is an infectious agent composed entirely of protein material called prp short for prion protein that can fold in multiple structurally distinct ways at least one of which is transmissible to other prion proteins leading to disease that is similar to viral infection they are suspected to be the cause of transmissible spongiform encephalopathies tses among other diseases prions were initially identified as the causative agent in animal tses such as bovine spongiform encephalopathy bse — known popularly as mad cow disease — and scrapie in sheep human prion diseases include creutzfeldt – jakob disease cjd and its variant vcjd gerstmann – sträussler – scheinker syndrome fatal familial insomnia and kuru a 2015 study concluded that multiple system atrophy msa a rare human neurodegenerative disease is caused by a misfolded version of a protein called alpha synuclein and is therefore also classifiable as a prion disease several yeast proteins have been identified as having prionogenic properties as well a protein as a standalone infectious agent stands in contrast to all other known infectious agents such as viruses bacteria fungi and parasites all of which contain nucleic acids dna rna or both for this reason a minority of researchers still consider the prion tse hypothesis unproven all known prion diseases in mammals affect the structure of the brain or other neural tissue all are currently untreatable and universally fatal prions may propagate by transmitting their misfolded protein state when a prion enters a healthy organism it induces existing properly folded proteins to convert into the misfolded prion form in this way the prion acts as a template to guide the misfolding of more proteins into prion form in yeast this refolding is assisted by chaperone proteins such as hsp 104 p these refolded prions can then go on to convert more proteins themselves leading to a chain reaction resulting in large amounts of the prion form all known prions induce the formation of an amyloid fold in which the protein polymerises into an aggregate consisting of tightly packed beta sheets amyloid aggregates are fibrils growing at their ends and replicate when breakage causes two growing ends to become four growing ends the incubation period of prion diseases is determined by the exponential growth rate associated with prion replication which is a balance between the linear growth and the breakage of aggregates the propagation of the prion depends on the presence of normally folded protein in which the prion can induce misfolding animals that do not express the normal form of the prion protein can neither develop nor transmit the disease prion aggregates are extremely stable and accumulate in infected tissue causing tissue damage and cell death this structural stability means that prions are resistant to denaturation by chemical and physical agents making disposal and containment of these particles difficult prion structure varies slightly between species but nonetheless prion replication is subject to occasional epimutation and natural selection just like other forms of replication
creutzfeldt – jakob disease
creutzfeldt – jakob disease cjd is a degenerative neurological disease that is incurable and invariably fatal cjd is at times called a human form of mad cow disease bovine spongiform encephalopathy or bse however given that bse is believed to be the cause of variant creutzfeldt – jakob disease vcjd in humans the two are often confused
creutzfeldt – jakob disease cjd is a degenerative neurological disease that is incurable and invariably fatal cjd is at times called a human form of mad cow disease bovine spongiform encephalopathy or bse however given that bse is believed to be the cause of variant creutzfeldt – jakob disease vcjd in humans the two are often confused cjd is caused by an infectious agent called a prion prions are misfolded proteins that replicate by converting their properly folded counterparts in their host to the same misfolded structure they possess cjd causes the brain tissue to degenerate rapidly and as the disease destroys the brain the brain develops holes and the texture changes to resemble that of a kitchen sponge
progressive multifocal leukoencephalopathy
progressive multifocal leukoencephalopathy pml is a rare and usually fatal viral disease characterized by progressive damage pathy or inflammation of the white matter leuko of the brain encephalo at multiple locations multifocal it is caused by the jc virus which is normally present and kept under control by the immune system jc virus is harmless except in cases of weakened immune systems in general pml has a mortality rate of 30 – 50 percent in the first few months and those who survive can be left with varying degrees of neurological disabilities
kuru disease
kuru is an incurable degenerative neurological disorder endemic to tribal regions of papua new guinea it is a type of transmissible spongiform encephalopathy caused by a prion found in humans the term kuru derives from the fore word kuria or guria to shake a reference to the body tremors that are a classic symptom of the disease it is also known among the fore as the laughing sickness due to the pathologic bursts of laughter people would display when afflicted with the disease it is now widely accepted that kuru was transmitted among members of the fore tribe of papua new guinea via funerary cannibalism
fatal familial insomnia
fatal familial insomnia ffi is an extremely rare autosomal dominant inherited prion disease of the brain it is almost always caused by a mutation to the protein prpc but can also develop spontaneously in patients with a non inherited mutation variant called sporadic fatal insomnia sfi ffi has no known cure and involves progressively worsening insomnia which leads to hallucinations delirium and confusional states like that of dementia the average survival span for patients diagnosed with ffi after the onset of symptoms is 18 months
gerstmann – sträussler – scheinker syndrome
gerstmann – sträussler – scheinker syndrome gss is a very rare usually familial fatal neurodegenerative disease that affects patients from 20 to 60 years in age though exclusively heritable this extremely rare disease is classified with the transmissible spongiform encephalopathies tse due to the causative role played by prnp the human prion protein the exact incidence of gss is unknown but is estimated to be between 1 and 10 per 100 million
rabies
rabies is a viral disease that causes acute inflammation of the brain in humans and other mammals early symptoms can include fever and tingling at the site of exposure these symptoms are followed by one or more of the following symptoms violent movements uncontrolled excitement fear of water an inability to move parts of the body confusion and loss of consciousness once symptoms appear the result is nearly always death the time period between contracting the disease and the start of symptoms is usually one to three months however this time period can vary from less than one week to more than one year the time is dependent on the distance the virus must travel to reach the central nervous system
rabies is a viral disease that causes acute inflammation of the brain in humans and other mammals early symptoms can include fever and tingling at the site of exposure these symptoms are followed by one or more of the following symptoms violent movements uncontrolled excitement fear of water an inability to move parts of the body confusion and loss of consciousness once symptoms appear the result is nearly always death the time period between contracting the disease and the start of symptoms is usually one to three months however this time period can vary from less than one week to more than one year the time is dependent on the distance the virus must travel to reach the central nervous system rabies is caused by lyssaviruses including rabies virus and australian bat lyssavirus rabies is spread when an infected animal scratches or bites another animal or human saliva from an infected animal can also transmit rabies if the saliva comes into contact with the eyes mouth or nose globally dogs are the most common animal involved more than 99 of rabies cases in countries where dogs commonly have the disease are caused by dog bites in the americas bat bites are the most common source of rabies infections in humans and less than 5 of cases are from dogs rodents are very rarely infected with rabies the rabies virus travels to the brain by following the peripheral nerves the disease can only be diagnosed after the start of symptoms animal control and vaccination programs have decreased the risk of rabies from dogs in a number of regions of the world immunizing people before they are exposed is recommended for those who are at high risk the high risk group includes people who work with bats or who spend prolonged periods in areas of the world where rabies is common in people who have been exposed to rabies the rabies vaccine and sometimes rabies immunoglobulin are effective in preventing the disease if the person receives the treatment before the start of rabies symptoms washing bites and scratches for 15 minutes with soap and water povidone iodine or detergent may reduce the number of viral particles and may be somewhat effective at preventing transmission only five people have survived a rabies infection after showing symptoms and this was with extensive treatment known as the milwaukee protocol rabies causes about 24 000 to 60 000 deaths worldwide per year more than 95 of human deaths caused by rabies occur in africa and asia rabies is present in more than 150 countries and on all continents but antarctica more than 3 billion people live in regions of the world where rabies occurs a number of countries including australia canada japan and the united states and western europe do not have rabies among dogs many small island nations do not have rabies at all
encephalitis
encephalitis is a sudden onset inflammation of the brain encephalitis with meningitis is known as meningoencephalitis symptoms include headache fever confusion drowsiness and fatigue further symptoms include seizures or convulsions tremors hallucinations stroke and memory problems in 2013 encephalitis was estimated to have resulted in 77 000 deaths down from 92 000 in 1990 the word is from ancient greek ἐγκέφαλος enképhalos brain composed of ἐν en in and κεφαλή kephalé head and the medical suffix itis inflammation
japanese encephalitis
japanese encephalitis je formerly known as japanese b encephalitis to distinguish it from economo s a encephalitis — is a disease caused by the mosquito borne japanese encephalitis virus jev the japanese encephalitis virus jev itself is a virus from the family flaviviridae part of the japanese encephalitis serocomplex of 9 genetically and antigenically related viruses some which are particularly severe in horses and four known to infect humans including west nile virus
tick borne encephalitis
tick borne encephalitis tbe is a viral infectious disease involving the central nervous system the disease most often manifests as meningitis encephalitis or meningoencephalitis although tbe is most commonly recognized as a neurological disorder mild fever can also occur long lasting or permanent neuropsychiatric sequelae are observed in 10 to 20 of infected patients the number of reported cases has been increasing in most countries tbe like lyme disease is one of the many tick borne diseases
tick borne encephalitis tbe is a viral infectious disease involving the central nervous system the disease most often manifests as meningitis encephalitis or meningoencephalitis although tbe is most commonly recognized as a neurological disorder mild fever can also occur long lasting or permanent neuropsychiatric sequelae are observed in 10 to 20 of infected patients the number of reported cases has been increasing in most countries the tick borne encephalitis virus is known to infect a range of hosts including ruminants birds rodents carnivores horses and humans the disease can also be zoonotic with ruminants and dogs providing the principal source of infection for humans tbe like lyme disease is one of the many tick borne diseases
encephalitis lethargica
encephalitis lethargica or von economo disease is an atypical form of encephalitis also known as sleepy sickness distinct from tsetse fly transmitted sleeping sickness it was first described in 1917 by the neurologist constantin von economoand the pathologist jean rené cruchet the disease attacks the brain leaving some victims in a statue like condition speechless and motionless between 1915 and 1926 an epidemic of encephalitis lethargica spread around the world nearly five million people were affected a third of whom died in the acute stages many of those who survived never returned to their pre existing aliveness they would be conscious and aware yet not fully awake they would sit motionless and speechless all day in their chairs totally lacking energy impetus init
encephalitis lethargica or von economo disease is an atypical form of encephalitis also known as sleepy sickness distinct from tsetse fly transmitted sleeping sickness it was first described in 1917 by the neurologist constantin von economoand the pathologist jean rené cruchet the disease attacks the brain leaving some victims in a statue like condition speechless and motionless between 1915 and 1926 an epidemic of encephalitis lethargica spread around the world nearly five million people were affected a third of whom died in the acute stages many of those who survived never returned to their pre existing aliveness they would be conscious and aware yet not fully awake they would sit motionless and speechless all day in their chairs totally lacking energy impetus initiative motive appetite affect or desire they registered what went on about them without active attention and with profound indifference they neither conveyed nor felt the feeling of life they were as insubstantial as ghosts and as passive as zombies awakenings oliver sacks p 14 no recurrence of the epidemic has since been reported though isolated cases continue to occur
dengue fever
dengue fever is a mosquito borne tropical disease caused by the dengue virus symptoms typically begin three to fourteen days after infection this may include a high fever headache vomiting muscle and joint pains and a characteristic skin rash recovery generally takes two to seven days in a small proportion of cases the disease develops into the life threatening dengue hemorrhagic fever resulting in bleeding low levels of blood platelets and blood plasma leakage or into dengue shock syndrome where dangerously low blood pressure occurs
dengue fever is a mosquito borne tropical disease caused by the dengue virus symptoms typically begin three to fourteen days after infection this may include a high fever headache vomiting muscle and joint pains and a characteristic skin rash recovery generally takes two to seven days in a small proportion of cases the disease develops into the life threatening dengue hemorrhagic fever resulting in bleeding low levels of blood platelets and blood plasma leakage or into dengue shock syndrome where dangerously low blood pressure occurs dengue is spread by several species of mosquito of the aedes type principally a aegypti the virus has five different types infection with one type usually gives lifelong immunity to that type but only short term immunity to the others subsequent infection with a different type increases the risk of severe complications a number of tests are available to confirm the diagnosis including detecting antibodies to the virus or its rna a novel vaccine for dengue fever has been approved in three countries but it is not yet commercially available prevention is by reducing mosquito habitat and limiting exposure to bites this may be done by getting rid of or covering standing water and wearing clothing that covers much of the body treatment of acute dengue is supportive and includes giving fluid either by mouth or intravenously for mild or moderate disease for more severe cases blood transfusion may be required about half a million people require admission to hospital a year nonsteroidal anti inflammatory drug nsaids such as ibuprofen should not be used dengue has become a global problem since the second world war and is common in more than 110 countries each year between 50 and 528 million people are infected and approximately 10 000 to 20 000 die the earliest descriptions of an outbreak date from 1779 its viral cause and spread were understood by the early 20 th century apart from eliminating the mosquitoes work is ongoing for medication targeted directly at the virus
viral hemorrhagic fever
chikungunya
chikungunya is an infection caused by the chikungunya virus symptoms include the fever and joint pain these typically occur two to twelve days after exposure other symptoms may include headache muscle pain joint swelling and a rash most people are better within a week however occasionally the joint pain may last for months the risk of death is around 1 in 1 000 the very young old and those with other health problems are at risk of more severe disease
chikungunya is an infection caused by the chikungunya virus symptoms include the fever and joint pain these typically occur two to twelve days after exposure other symptoms may include headache muscle pain joint swelling and a rash most people are better within a week however occasionally the joint pain may last for months the risk of death is around 1 in 1 000 the very young old and those with other health problems are at risk of more severe disease the virus is spread between people by two types of mosquitos aedes albopictus and aedes aegypti they mainly bite during the day the virus may circulate within a number of animals including birds and rodents diagnosis is by either testing the blood for the virus s rna or antibodies to the virus the symptoms can be mistaken for those of dengue fever and zika fever after a single infection it is believed most people become immune the best means of prevention is overall mosquito control and the avoidance of bites in areas where the disease is common this may be partly achieved by decreases mosquitoes access to water and with the use of insect repellent and mosquito nets there is no vaccine and no specific treatment as of 2016 recommendations include rest fluids and medications to help with fever and joint pain while the disease typically occurs in africa and asia outbreaks have been reported in europe and the americas since the 2000 s in 2014 more than a million suspected cases occurred in 2014 it was occurring in florida in the continental united states but as of 2016 there was no further locally acquired cases the disease was first identified in 1952 in tanzania the term is from the kimakonde language and means to become contorted
west nile fever
west nile fever is a mosquito borne infection by the west nile virus approximately 80 of west nile virus infections in humans have few or no symptoms in the cases where symptoms do occur — termed west nile fever in cases without neurological disease — the time from infection to the appearance of symptoms is typically between 2 and 15 days symptoms may include fever headaches feeling tired muscle pain or aches nausea loss of appetite vomiting and rash less than 1 of the cases are severe and result in neurological disease when the central nervous system is affected people of advanced age the very young or those with immunosuppression either medically induced such as those taking immunosupressive drugs or due to a pre existing medical condition such as hiv infection are most s
rift valley fever
rift valley fever rvf is a viral disease that can cause mild to severe symptoms the mild symptoms may include fever muscle pains and headaches which often last for up to a week the severe symptoms may include loss of sight beginning three weeks after the infection infections of the brain causing severe headaches and confusion and bleeding together with liver problems which may occur within the first few days those who have bleeding have a chance of death as high as 50
oropouche fever
yellow fever
yellow fever is an acute viral disease in most cases symptoms include fever chills loss of appetite nausea muscle pains particularly in the back and headaches symptoms typically improve within five days in some people within a day of improving the fever comes back abdominal pain occurs and liver damage begins causing yellow skin if this occurs the risk of bleeding and kidney problems is also increased
yellow fever is an acute viral disease in most cases symptoms include fever chills loss of appetite nausea muscle pains particularly in the back and headaches symptoms typically improve within five days in some people within a day of improving the fever comes back abdominal pain occurs and liver damage begins causing yellow skin if this occurs the risk of bleeding and kidney problems is also increased the disease is caused by the yellow fever virus and is spread by the bite of an infected female mosquito it infects only humans other primates and several species of mosquitoes in cities it is spread primarily by mosquitoes of the aedes aegypti type the virus is an rna virus of the genus flavivirus the disease may be difficult to tell apart from other illnesses especially in the early stages to confirm a suspected case blood sample testing with polymerase chain reaction is required a safe and effective vaccine against yellow fever exists and some countries require vaccinations for travelers other efforts to prevent infection include reducing the population of the transmitting mosquito in areas where yellow fever is common and vaccination is uncommon early diagnosis of cases and immunization of large parts of the population is important to prevent outbreaks once infected management is symptomatic with no specific measures effective against the virus the second and more severe phase results in death in up to half of people without treatment yellow fever causes 200 000 infections and 30 000 deaths every year with nearly 90 of these occurring in africa nearly a billion people live in an area of the world where the disease is common it is common in tropical areas of south america and africa but not in asia since the 1980 s the number of cases of yellow fever has been increasing this is believed to be due to fewer people being immune more people living in cities people moving frequently and changing climate the disease originated in africa from where it spread to south america through the slave trade in the 17 th century since the 17 th century several major outbreaks of the disease have occurred in the americas africa and europe in the 18 th and 19 th centuries yellow fever was seen as one of the most dangerous infectious diseases in 1927 yellow fever virus became the first human virus to be isolated
lassa fever
lassa fever or lassa hemorrhagic fever lhf is an acute viral hemorrhagic fever caused by the lassa virus and first described in 1969 in the town of lassa in borno state nigeria lassa virus is a member of the arenaviridae virus family similar to ebola clinical cases of lassa fever had been known for over a decade but had not been connected with a viral pathogen
crimean – congo hemorrhagic fever
crimean – congo hemorrhagic fever cchf is a widespread tick borne viral disease that is endemic in africa the balkans the middle east and asia the virus is a member of the bunyaviridae family of rna viruses it is a zoonotic disease carried by several domestic and wild animals while clinical disease is rare in infected animals it is severe in infected humans with a mortality rate of 10 40 outbreaks of illness are usually attributable to hyalomma tick bites or contact with infected animals or people
omsk hemorrhagic fever
omsk hemorrhagic fever is a viral hemorrhagic fever caused by a flavivirus it is found in siberia it is named for an outbreak in omsk
kyasanur forest disease
kyasanur forest disease kfd is a tick borne viral hemorrhagic fever endemic to south asia the disease is caused by a virus belonging to the family flaviviridae which also includes yellow fever and dengue fever
marburg virus disease
marburg virus disease mvd formerly marburg hemorrhagic fever is a severe illness of humans and non human primates caused by either of the two marburgviruses marburg virus marv and ravn virus ravv mvd is a viral hemorrhagic fever vhf and the clinical symptoms are indistinguishable from ebola virus disease evd
ebola virus disease
ebola virus disease evd also known as ebola hemorrhagic fever ehf or simply ebola is a viral hemorrhagic fever of humans and other primates caused by ebolaviruses signs and symptoms typically start between two days and three weeks after contracting the virus with a fever sore throat muscular pain and headaches then vomiting diarrhea and rash usually follow along with decreased function of the liver and kidneys at this time some people begin to bleed both internally and externally the disease has a high risk of death killing between 25 and 90 percent of those infected with an average of about 50 percent this is often due to low blood pressure from fluid loss and typically follows six to sixteen days after symptoms appear
ebola virus disease evd also known as ebola hemorrhagic fever ehf or simply ebola is a viral hemorrhagic fever of humans and other primates caused by ebolaviruses signs and symptoms typically start between two days and three weeks after contracting the virus with a fever sore throat muscular pain and headaches then vomiting diarrhea and rash usually follow along with decreased function of the liver and kidneys at this time some people begin to bleed both internally and externally the disease has a high risk of death killing between 25 and 90 percent of those infected with an average of about 50 percent this is often due to low blood pressure from fluid loss and typically follows six to sixteen days after symptoms appear the virus spreads by direct contact with body fluids such as blood of an infected human or other animals this may also occur through contact with an item recently contaminated with bodily fluids spread of the disease through the air between primates including humans has not been documented in either laboratory or natural conditions semen or breast milk of a person after recovery from evd may carry the virus for several weeks to months fruit bats are believed to be the normal carrier in nature able to spread the virus without being affected by it other diseases such as malaria cholera typhoid fever meningitis and other viral hemorrhagic fevers may resemble evd blood samples are tested for viral rna viral antibodies or for the virus itself to confirm the diagnosis control of outbreaks requires coordinated medical services alongside a certain level of community engagement the medical services include rapid detection of cases of disease contact tracing of those who have come into contact with infected individuals quick access to laboratory services proper healthcare for those who are infected and proper disposal of the dead through cremation or burial samples of body fluids and tissues from people with the disease should be handled with special caution prevention includes limiting the spread of disease from infected animals to humans this may be done by handling potentially infected bushmeat only while wearing protective clothing and by thoroughly cooking it before eating it it also includes wearing proper protective clothing and washing hands when around a person with the disease no specific treatment or vaccine for the virus is available although a number of potential treatments are being studied supportive efforts however improve outcomes this includes either oral rehydration therapy drinking slightly sweetened and salty water or giving intravenous fluids as well as treating symptoms the disease was first identified in 1976 in two simultaneous outbreaks one in nzara and the other in yambuku a village near the ebola river from which the disease takes its name evd outbreaks occur intermittently in tropical regions of sub saharan africa between 1976 and 2013 the world health organization reports a total of 24 outbreaks involving 1 716 cases the largest outbreak to date was the epidemic in west africa which occurred from december 2013 to january 2016 with section ebola virus epidemic in west africa cases cases and section ebola virus epidemic in west africa deaths deaths section ebola virus epidemic in west africa caserefs it was declared no longer an emergency on 29 march 2016
herpesviral encephalitis
herpesviral encephalitis is encephalitis due to herpes simplex virus herpes simplex encephalitis hse is a viral infection of the human central nervous system it is estimated to affect at least 1 in 500 000 individuals per year and some studies suggest an incidence rate of 5 9 cases per 100 000 live births the majority of cases of herpes encephalitis are caused by herpes simplex virus 1 hsv 1 the same virus that causes cold sores 57 of american adults are infected with hsv 1 which is spread through droplets casual contact and sometimes sexual contact though most infected people never have cold sores about 10 of cases of herpes encephalitis are due to hsv 2 which is typically spread through sexual contact about 1 in 3 cases of hse result from primary hsv 1 infection predom
chickenpox
chickenpox also known as varicella is a highly contagious disease caused by the initial infection with varicella zoster virus vzv the disease results in a characteristic skin rash that forms small itchy blisters which eventually scab over it usually starts on the chest back and face then spreads to the rest of the body other symptoms may include fever feeling tired and headaches symptoms usually last five to ten days complications may occasionally include pneumonia inflammation of the brain or bacterial infections of the skin among others the disease is often more severe in adults than children symptoms begin ten to twenty one days after exposure to the virus
chickenpox also known as varicella is a highly contagious disease caused by the initial infection with varicella zoster virus vzv the disease results in a characteristic skin rash that forms small itchy blisters which eventually scab over it usually starts on the chest back and face then spreads to the rest of the body other symptoms may include fever feeling tired and headaches symptoms usually last five to ten days complications may occasionally include pneumonia inflammation of the brain or bacterial infections of the skin among others the disease is often more severe in adults than children symptoms begin ten to twenty one days after exposure to the virus chickenpox is an airborne disease which spreads easily through the coughs and sneezes of an infected person it may be spread from one to two days before the rash appears until all lesions have crusted over it may also spread through contact with the blisters those with shingles may spread chickenpox to those who are not immune through contact with the blisters the disease can usually be diagnosed based on the presenting symptom however in unusual cases may be confirmed by polymerase chain reaction pcr testing of the blister fluid or scabs testing for antibodies may be done to determine if a person is or is not immune people usually only get the disease once although reinfections by the virus occur these reinfections usually do not cause any symptoms the varicella vaccine has resulted in a decrease in the number of cases and complications from the disease it protects about 70 to 90 percent of people from disease with a greater benefit for severe disease routine immunization of children is recommended in many countries immunization within three days of exposure may improve outcomes in children treatment of those infected may include calamine lotion to help with itching keeping the fingernails short to decrease injury from scratching and the use of paracetamol acetaminophen to help with fevers for those at increased risk of complications antiviral medication such as aciclovir are recommended chickenpox occurs in all parts of the world as of 2013 140 million cases of chickenpox and herpes zoster occurred before routine immunization the number of cases occurring each year was similar to the number of people born since immunization the number of infections in the united states has decreased nearly 90 in 2013 chickenpox resulted in 7 000 deaths globally – down from 8 900 in 1990 death occurs in about 1 per 60 000 cases chickenpox was not separated from smallpox until the late 19 th century in 1888 its connection to shingles was determined the first documented use of the term chicken pox was in 1658 various explanations have been suggested for the use of chicken in the name one being the relative mildness of the disease
shingles
shingles also known as zoster herpes zoster or zona is a viral disease characterized by a painful skin rash with blisters involving a limited area typically the rash occurs on either the left or right of the body or face in a single stripe two to four days before the rash occurs there may be pain or tingling in the area otherwise there are typically few symptoms the rash usually heals within two to four weeks however some people develop ongoing nerve pain which may last for months or years a condition called postherpetic neuralgia in those with poor immune function the rash may occur widely if the rash involves the eye vision loss may occur
shingles also known as zoster herpes zoster or zona is a viral disease characterized by a painful skin rash with blisters involving a limited area typically the rash occurs on either the left or right of the body or face in a single stripe two to four days before the rash occurs there may be pain or tingling in the area otherwise there are typically few symptoms the rash usually heals within two to four weeks however some people develop ongoing nerve pain which may last for months or years a condition called postherpetic neuralgia in those with poor immune function the rash may occur widely if the rash involves the eye vision loss may occur shingles is due to a reactivation of varicella zoster virus vzv within a person s body chickenpox is due to an initial infection with vzv once chickenpox has resolved the virus may remain inactive in nerve cells risk factors for reactivation include older age poor immune function and having had chickenpox before 18 months of age how the virus remains in the body or subsequently re activates is not well understood exposure to the virus in the blisters can cause chickenpox in someone who has not had it before but will not trigger shingles diagnosis is typically based on a person s signs and symptoms varicella zoster virus is not the same as herpes simplex virus however they belong to the same family of viruses the shingles vaccine decreases the chance of shingles by about half in those between the ages of 50 and 80 it also decreases rates of postherpetic neuralgia and if an outbreak occurs its severity after 80 the vaccine is still effective just less so it contains the same material as the varicella vaccine just at a higher dose if shingles develops antiviral medications such as aciclovir can reduce the severity and duration of disease if started within 72 hours of the appearance of the rash evidence does not show a significant effect of antivirals or steroids on rates of postherpetic neuralgia paracetamol nsaids or opioids may be used to help with the acute pain it is estimated that about a third of people develop shingles at some point in their life while more common among older people children may also get the disease the number of new cases per year ranges from 1 2 – 3 4 per 1 000 among healthy individuals to 3 9 – 11 8 per 1 000 among those older than 65 years of age about half of those living to age 85 will have at least one attack and less than 5 will have more than one attack the disease has been recognized since ancient times in arabic its name means belt of fire while in spanish it means small snake and in hindi it means big rash
postherpetic neuralgia
postherpetic neuralgia is a nerve pain due to damage caused by the varicella zoster virus typically the neuralgia is confined to a dermatomic area of the skin and follows an outbreak of herpes zoster commonly known as shingles in that same dermatomic area the neuralgia typically begins when the herpes zoster vesicles have crusted over and begun to heal but can begin in the absence of herpes zoster — a condition called zoster sine herpete see herpes zoster
smallpox
smallpox was an infectious disease caused by either of two virus variants variola major and variola minor the disease is also known by the latin names variola or variola vera derived from varius spotted or varus pimple the disease was originally known in english as the pox or red plague the term smallpox was first used in britain in the 15 th century to distinguish variola from the great pox syphilis the last naturally occurring case of smallpox variola minor was diagnosed on 26 october 1977
smallpox was an infectious disease caused by either of two virus variants variola major and variola minor the disease is also known by the latin names variola or variola vera derived from varius spotted or varus pimple the disease was originally known in english as the pox or red plague the term smallpox was first used in britain in the 15 th century to distinguish variola from the great pox syphilis the last naturally occurring case of smallpox variola minor was diagnosed on 26 october 1977 infection with smallpox is focused in small blood vessels of the skin and in the mouth and throat before disseminating in the skin it results in a characteristic maculopapular rash and later raised fluid filled blisters v major produced a more serious disease and had an overall mortality rate of 30 – 35 percent v minor caused a milder form of disease also known as alastrim cottonpox milkpox whitepox and cuban itch which killed about 1 percent of its victims long term complications of v major infection included characteristic scars commonly on the face which occur in 65 – 85 percent of survivors blindness resulting from corneal ulceration and scarring and limb deformities due to arthritis and osteomyelitis were less common complications seen in about 2 – 5 percent of cases smallpox is believed to have emerged in human populations about 10 000 bc the earliest physical evidence of it is probably the pustular rash on the mummified body of pharaoh ramses v of egypt the disease killed an estimated 400 000 europeans annually during the closing years of the 18 th century including five reigning monarchs and was responsible for a third of all blindness of all those infected 20 – 60 percent — and over 80 percent of infected children — died from the disease smallpox was responsible for an estimated 300 – 500 million deaths during the 20 th century as recently as 1967 the world health organization who estimated that 15 million people contracted the disease and that two million died in that year after vaccination campaigns throughout the 19 th and 20 th centuries the who certified the global eradication of smallpox in 1979 smallpox is one of two infectious diseases to have been eradicated the other being rinderpest which was declared eradicated in 2011
monkeypox
monkeypox is an infectious disease caused by the monkeypox virus the disease was first identified in laboratory monkeys hence its name but in its natural state it seems to infect rodents more often than primates the disease is indigenous to central and west africa an outbreak that occurred in the united states in 2003 was traced to a pet store where imported gambian pouched rats were sold
measles
measles is a highly contagious infection caused by the measles virus initial signs and symptoms typically include fever often greater than 40 ° c 104 0 ° f cough runny nose and inflamed eyes two or three days after the start of symptoms small white spots may form inside the mouth known as koplik s spots a red flat rash which usually starts on the face and then spreads to the rest of the body typically begins three to five days after the start of symptoms symptoms usually develop 10 – 12 days after exposure to an infected person and last 7 – 10 days complications occur in about 30 and may include diarrhea blindness inflammation of the brain and pneumonia among others rubella german measles and roseola are different diseases
measles is a highly contagious infection caused by the measles virus initial signs and symptoms typically include fever often greater than 40 ° c 104 0 ° f cough runny nose and inflamed eyes two or three days after the start of symptoms small white spots may form inside the mouth known as koplik s spots a red flat rash which usually starts on the face and then spreads to the rest of the body typically begins three to five days after the start of symptoms symptoms usually develop 10 – 12 days after exposure to an infected person and last 7 – 10 days complications occur in about 30 and may include diarrhea blindness inflammation of the brain and pneumonia among others rubella german measles and roseola are different diseases measles is an airborne disease which spreads easily through the coughs and sneezes of those infected it may also be spread through contact with saliva or nasal secretions nine out of ten people who are not immune and share living space with an infected person will catch it people are infectious to others from four days before to four days after the start of the rash people usually do not get the disease more than once testing for the virus in suspected cases is important for public health efforts the measles vaccine is effective at preventing the disease vaccination has resulted in a 75 decrease in deaths from measles between 2000 and 2013 with about 85 of children globally being currently vaccinated no specific treatment is available supportive care may improve outcomes this may include giving oral rehydration solution slightly sweet and salty fluids healthy food and medications to control the fever antibiotics may be used if a secondary bacterial infection such as pneumonia occurs vitamin a supplementation is also recommended in the developing world measles affects about 20 million people a year primarily in the developing areas of africa and asia it causes the most vaccine preventable deaths of any disease it resulted in about 96 000 deaths in 2013 down from 545 000 deaths in 1990 in 1980 the disease was estimated to have caused 2 6 million deaths per year most of those who are infected and who die are less than five years old the risk of death among those infected is usually 0 2 but may be up to 10 in those who have malnutrition it is not believed to affect other animals before immunization in the united states between three and four million cases occurred each year as a result of widespread vaccination the disease was eliminated from the americas in 2016
rubella
rubella also known as german measles or three day measles is an infection caused by the rubella virus this disease is often mild with half of people not realizing that they are sick a rash may start around two weeks after exposure and last for three days it usually starts on the face and spreads to the rest of the body the rash is not as bright as that of measles and is sometimes itchy swollen lymph nodes are common and may last a few weeks a fever sore throat and fatigue may also occur in adults joint pain is common complications may include bleeding problems testicular swelling and inflammation of nerves infection during early pregnancy may result in a child born with congenital rubella syndrome crs or miscarriage symptoms of crs include problems with the eyes such as c
rubella also known as german measles or three day measles is an infection caused by the rubella virus this disease is often mild with half of people not realizing that they are sick a rash may start around two weeks after exposure and last for three days it usually starts on the face and spreads to the rest of the body the rash is not as bright as that of measles and is sometimes itchy swollen lymph nodes are common and may last a few weeks a fever sore throat and fatigue may also occur in adults joint pain is common complications may include bleeding problems testicular swelling and inflammation of nerves infection during early pregnancy may result in a child born with congenital rubella syndrome crs or miscarriage symptoms of crs include problems with the eyes such as cataracts ears such as deafness heart and brain problems are rare after the 20 th week of pregnancy rubella is usually spread through the air via coughs of people who are infected people are infectious during the week before and after the appearance of the rash babies with crs may spread the virus for more than a year only humans are infected insects do not spread the disease once recovered people are immune to future infections testing is available that can verify immunity diagnosis is confirmed by finding the virus in the blood throat or urine testing the blood for antibodies may also be useful rubella is preventable with the rubella vaccine with a single dose being more than 95 effective often it is given in combination with the measles vaccine and mumps vaccine known as the mmr vaccine with a population vaccination rate of less than 80 however more women might make it to childbearing age without developing immunity and issues could increase once infected there is no specific treatment rubella is a common infection in many areas of the world each year about 100 000 cases of congenital rubella syndrome occur rates of disease have decreased in many areas as a result of vaccination there are ongoing efforts to eliminate the disease globally in april 2015 the world health organization declared the americas free of rubella transmission the name rubella is from latin and means little red it was first described as a separate disease by german physicians in 1814 resulting in the name german measles
wart
orf disease
orf is an exanthemous disease caused by a parapox virus and occurring primarily in sheep and goats it is also known as contagious pustular dermatitis infectious labial dermatitis ecthyma contagiosum thistle disease and scabby mouth orf virus is zoonotic it can also infect humans
molluscum contagiosum
molluscum contagiosum mc sometimes called water warts is a viral infection of the skin and occasionally of the mucous membranes mc can affect any area of the skin but is most common on the trunk of the body arms groin and legs
roseola
roseola is a disease of children generally under two years old although it has been known to occur in eighteen year olds whose manifestations are usually limited to a transient rash exanthem that occurs following a fever of about three days duration roseola occur in 1 of children in the united states
fifth disease
erythema infectiosum or fifth disease is one of several possible manifestations of infection by parvovirus b 19 the disease is also referred to as slapped cheek syndrome slapcheek slap face or slapped face the name fifth disease comes from its place on the standard list of rash causing childhood diseases which also includes measles 1 st scarlet fever 2 nd rubella 3 rd and dukes disease 4 th though the last is no longer widely accepted as distinct
hand foot and mouth disease
hand foot and mouth disease hfmd is a common infection caused by a group of viruses it typically begins with a fever and feeling generally unwell this is followed a day or two later by flat discolored spots or bumps that may blister on the hands feet and mouth and occasionally buttocks and groin signs and symptoms normally appear 3 – 6 days after exposure to the virus the rash generally goes away on its own in about a week fingernail and toenail loss may occur a few weeks later and these then regrow
herpangina
herpangina also called mouth blisters is the name of a painful mouth infection caused by coxsackieviruses usually herpangina is produced by one particular strain of coxsackie virus a and the term herpangina virus refers to coxsackievirus a but it can also be caused by coxsackievirus b or echoviruses most cases of herpangina occur in the summer affecting mostly children however it occasionally occurs in adolescents and adults it was first characterized in 1920
foot and mouth disease
foot and mouth disease or hoof and mouth disease aphthae epizooticae is an infectious and sometimes fatal viral disease that affects cloven hoofed animals including domestic and wild bovids the virus causes a high fever for approximately two to six days followed by blisters inside the mouth and on the feet that may rupture and cause lameness
enanthem
enanthem or enanthema is a rash small spots on the mucous membranes it is characteristic of patients with smallpox measles chicken pox and roseola infantum it can also indicate hypersensitivity enanthema can present with viral exanthema
hepatitis a
hepatitis a formerly known as infectious hepatitis is an acute infectious disease of the liver caused by the hepatitis a virus hav many cases have few or no symptoms especially in the young the time between infection and symptoms in those who develop them is between two and six weeks when symptoms occur they typically last eight weeks and may include nausea vomiting diarrhea jaundice fever and abdominal pain around 10 – 15 of people experience a recurrence of symptoms during the six months after the initial infection acute liver failure may rarely occur with this being more common in the elderly
hepatitis d
hepatitis d hepatitis delta is a disease caused by the hepatitis d virus hdv a small spherical enveloped rna virus this is one of five known hepatitis viruses a b c d and e hdv is considered to be a subviral satellite because it can propagate only in the presence of the hepatitis b virus hbv transmission of hdv can occur either via simultaneous infection with hbv coinfection or superimposed on chronic hepatitis b or hepatitis b carrier state superinfection
hepatitis c
hepatitis c is an infectious disease caused by the hepatitis c virus hcv that primarily affects the liver during the initial infection people often have mild or no symptoms occasionally a fever dark urine abdominal pain and yellow tinged skin occurs the virus persists in the liver in about 75 to 85 of those initially infected early on chronic infection typically has no symptoms over many years however it often leads to liver disease and occasionally cirrhosis in some cases those with cirrhosis will develop complications such as liver failure liver cancer or esophageal and gastric varices
hepatitis e
hepatitis e is a viral hepatitis liver inflammation caused by infection with a virus called hepatitis e virus it is one of five known human hepatitis viruses a b c d and e hev is a positive sense single stranded non enveloped rna icosahedral virus hev has a fecal oral transmission route infection with this virus was first documented in 1955 during an outbreak in new delhi india a preventative vaccine hev 239 is approved for use in china hepatitis e newly affected about 28 million people in 2013
hiv aids
human immunodeficiency virus infection and acquired immune deficiency syndrome hiv aids is a spectrum of conditions caused by infection with the human immunodeficiency virus hiv following initial infection a person may not notice any symptoms or may experience a brief period of influenza like illness typically this is followed by a prolonged period with no symptoms as the infection progresses it interferes more with the immune system increasing the risk of common infections like tuberculosis as well as other opportunistic infections and tumors that rarely affect people who have working immune systems these late symptoms of infection are referred to as aids this stage is often also associated with weight loss
human immunodeficiency virus infection and acquired immune deficiency syndrome hiv aids is a spectrum of conditions caused by infection with the human immunodeficiency virus hiv following initial infection a person may not notice any symptoms or may experience a brief period of influenza like illness typically this is followed by a prolonged period with no symptoms as the infection progresses it interferes more with the immune system increasing the risk of common infections like tuberculosis as well as other opportunistic infections and tumors that rarely affect people who have working immune systems these late symptoms of infection are referred to as aids this stage is often also associated with weight loss hiv is spread primarily by unprotected sex including anal and oral sex contaminated blood transfusions hypodermic needles and from mother to child during pregnancy delivery or breastfeeding some bodily fluids such as saliva and tears do not transmit hiv methods of prevention include safe sex needle exchange programs treating those who are infected and male circumcision disease in a baby can often be prevented by giving both the mother and child antiretroviral medication there is no cure or vaccine however antiretroviral treatment can slow the course of the disease and may lead to a near normal life expectancy treatment is recommended as soon as the diagnosis is made without treatment the average survival time after infection is 11 years in 2015 about 36 7 million people were living with hiv and it resulted in 1 1 million deaths most of those infected live in sub saharan africa between its discovery and 2014 aids has caused an estimated 39 million deaths worldwide hiv aids is considered a pandemic — a disease outbreak which is present over a large area and is actively spreading hiv is believed to have originated in west central africa during the late 19 th or early 20 th century aids was first recognized by the united states centers for disease control and prevention cdc in 1981 and its cause — hiv infection — was identified in the early part of the decade hiv aids has had a great impact on society both as an illness and as a source of discrimination the disease also has large economic impacts there are many misconceptions about hiv aids such as the belief that it can be transmitted by casual non sexual contact the disease has become subject to many controversies involving religion including the catholic church s decision not to support condom use as prevention it has attracted international medical and political attention as well as large scale funding since it was identified in the 1980 s
cytomegalovirus
cytomegalovirus from the greek cyto cell and megalo large is a genus of viruses in the order herpesvirales in the family herpesviridae in the subfamily betaherpesvirinae humans and monkeys serve as natural hosts there are currently eight species in this genus including the type species human herpesvirus 5 hhv 5 diseases associated with hhv 5 include glandular fever and pneumonia it is typically abbreviated as cmv
human cytomegalovirus
human cytomegalovirus is a species of the cytomegalovirus genus of viruses which in turn is a member of the viral family known as herpesviridae or herpesviruses it is typically abbreviated as hcmv or commonly but more ambiguously as cmv it is also known as human herpesvirus 5 hhv 5 within herpesviridae hcmv belongs to the betaherpesvirinae subfamily which also includes cytomegaloviruses from other mammals
parotitis
parotitis is an inflammation of one or both parotid glands the major salivary glands located on either side of the face in humans the parotid gland is the salivary gland most commonly affected by inflammation
mumps
for other uses of the word mumps see mumps disambiguation mumps also known as epidemic parotitis is a viral disease caused by the mumps virus initial signs and symptoms often include fever muscle pain headache and feeling tired this is then usually followed by painful swelling of one or both parotid salivary glands symptoms typically occur 16 to 18 days after exposure and resolve after seven to ten days symptoms in adults are often more severe than in children about a third of people have mild or no symptoms complications may include infections of the covering of the brain 15 percent pancreatitis four percent permanent deafness and painful testicular swelling which uncommonly results in infertility women may develop ovarian swelling but this does not increase the r
infectious mononucleosis
infectious mononucleosis im also known as mono or glandular fever is an infection commonly caused by the epstein – barr virus ebv most people are infected by the virus as children when the disease produces little or no symptoms in young adults the disease often results in fever sore throat enlarged lymph nodes in the neck and feeling tired most people get better in two to four weeks however feeling tired may last for months the liver or spleen may also become swollen in less than one percent of cases splenic rupture may occur
infectious mononucleosis im also known as mono or glandular fever is an infection commonly caused by the epstein – barr virus ebv most people are infected by the virus as children when the disease produces little or no symptoms in young adults the disease often results in fever sore throat enlarged lymph nodes in the neck and feeling tired most people get better in two to four weeks however feeling tired may last for months the liver or spleen may also become swollen in less than one percent of cases splenic rupture may occur infectious mononucleosis is usually caused by epstein – barr virus ebv also known as human herpesvirus 4 which is a member of the herpes virus family a few other viruses may also cause the disease it is primarily spread through saliva but can rarely be spread through semen or blood spread may occur by objects such as drinking glasses or toothbrushes those who are infected can spread the disease weeks before symptoms develop mono is primarily diagnosed based on the symptoms and can be confirmed with blood tests for specific antibodies another typical finding is increased blood lymphocytes of which more than 10 are atypical the monospot test is not very useful there is no vaccine for ebv prevention is by not sharing personal items or kissing those infected mono generally gets better on its own recommendations include drinking enough fluids getting sufficient rest and taking pain medications such as paracetamol acetaminophen and ibuprofen mono most commonly affects those between the ages of 15 to 24 years in the developed world in the developing world people are more often infected in early childhood when the symptoms are less in those between 16 and 20 it is the cause of about 8 of sore throats about 45 out of 100 000 people develop mono each year in the united states nearly 95 of people have been infected by the time they are adults the disease occurs equally at all times of the year mononucleosis was first described in the 1920 s and is colloquially known as the kissing disease
bornholm disease
bornholm disease or epidemic pleurodynia or epidemic myalgia is a disease caused by the coxsackie b virus or other viruses it is named after the danish island of bornholm where early cases occurred
hantavirus
hantaviruses are single stranded enveloped negative sense rna viruses in the bunyaviridae family which can kill humans they normally infect rodents and do not cause disease in these hosts humans may become infected with hantaviruses through contact with rodent urine saliva or feces some strains of hantaviruses cause potentially fatal diseases in humans such as hantavirus hemorrhagic fever with renal syndrome hfrs and hantavirus pulmonary syndrome hps — also known as hantavirus cardiopulmonary syndrome hcps — while others have not been associated with known human disease hps hcps is a rare respiratory illness associated with the inhalation of aerosolized rodent excreta urine and feces contaminated by hantavirus particles
hantaviruses are single stranded enveloped negative sense rna viruses in the bunyaviridae family which can kill humans they normally infect rodents and do not cause disease in these hosts humans may become infected with hantaviruses through contact with rodent urine saliva or feces some strains of hantaviruses cause potentially fatal diseases in humans such as hantavirus hemorrhagic fever with renal syndrome hfrs and hantavirus pulmonary syndrome hps — also known as hantavirus cardiopulmonary syndrome hcps — while others have not been associated with known human disease hps hcps is a rare respiratory illness associated with the inhalation of aerosolized rodent excreta urine and feces contaminated by hantavirus particles human infections of hantaviruses have almost entirely been linked to human contact with rodent excrement but recent human to human transmission has been reported with the andes virus in south america hantavirus is named for the hantan river area in south korea where an early outbreak was observed the virus was isolated in the late 1970 s by karl m johnson and ho wang lee
mycosis
tinea capitis
tinea capitis also known as herpes tonsurans ringworm of the hair ringworm of the scalp scalp ringworm and tinea tonsurans is a cutaneous fungal infection dermatophytosis of the scalp the disease is primarily caused by dermatophytes in the trichophyton and microsporum genera that invade the hair shaft the clinical presentation is typically single or multiple patches of hair loss sometimes with a black dot pattern often with broken off hairs that may be accompanied by inflammation scaling pustules and itching uncommon in adults tinea capitis is predominantly seen in pre pubertal children more often boys than girls
kerion
kerion is the result of the host s response to a fungal ringworm infection of the hair follicles of the scalp occasionally the beard that can be accompanied by secondary bacterial infection s it usually appears as raised spongy lesions and typically occurs in children this honeycomb is a painful inflammatory reaction with deep suppurative lesions on the scalp follicles may be seen discharging pus there may be sinus formation and rarely mycetoma like grains are produced it is usually caused by dermatophytes fungal infections of the skin affecting humans and animals such as trichophyton verrucosum t mentagrophytes and microsporum canis treatment with oral griseofulvin common
favid
favid of favus latin for honeycomb is a disease usually affecting the scalp but occurring occasionally on any part of the skin and even at times on mucous membranes the word “ favid ” is more used than french word “ favus ” which is close to the latin etymology
tinea barbae
dermatophytosis
dermatophytosis also known as ringworm is a fungal infection of the skin typically it results in a red itchy scaly circular rash hair loss may occur in the area affected symptoms begin four to fourteen days after exposure multiple areas can be affected at a given time prevention is by keeping the skin dry not walking barefoot in public and not sharing personal items treatment is typically with antifungal creams such as clotrimazole or miconazole if the scalp is involved antifungals by mouth such as fluconazole may be needed
dermatophytosis also known as ringworm is a fungal infection of the skin typically it results in a red itchy scaly circular rash hair loss may occur in the area affected symptoms begin four to fourteen days after exposure multiple areas can be affected at a given time about 40 types of fungi can cause ringworm they are typically of the trichophyton microsporum or epidermophyton type risk factors include using public showers contact sports such as wrestling excessive sweating contact with animals obesity and poor immune function ringworm can spread from other animals or between people diagnosis is often based on the appearance and symptoms it may be confirmed by either culturing or looking at a skin scraping under a microscope prevention is by keeping the skin dry not walking barefoot in public and not sharing personal items treatment is typically with antifungal creams such as clotrimazole or miconazole if the scalp is involved antifungals by mouth such as fluconazole may be needed up to 20 of the population may be infected by ringworm at any given time infections of the groin are more common in males while infections of the scalp and body occur equally in both sexes infections of the scalp are most common in children while infections of the groin are most common in the elderly description of ringworm date back to ancient history
onychomycosis
tinea manuum
athlete s foot
athlete s foot known medically as tinea pedis is a common skin infection of the feet caused by fungus signs and symptoms often include itching scaling and redness in severe cases the skin may blister athlete s foot fungus may infect any part of the foot but most often grows between the toes the next most common area is the bottom of the foot the same fungus may also affect the nails or the hands it is a member of the group of diseases known as tinea
tinea corporis
tinea imbricata
tinea cruris
tinea cruris also known as crotch itch crotch rot dhobi itch eczema marginatum gym itch jock itch jock rot scrot rot and ringworm of the groin is a dermatophyte fungal infection of the groin region in any sex though more often seen in males
tinea cruris also known as crotch itch crotch rot dhobi itch eczema marginatum gym itch jock itch jock rot scrot rot and ringworm of the groin is a dermatophyte fungal infection of the groin region in any sex though more often seen in males tinea cruris is similar to but different from candidal intertrigo which is an infection of the skin by candida albicans the latter is more specifically located between intertriginous folds of adjacent skin which can be present in the groin or scrotum and be indistinguishable from fungal infections caused by tinea however candidal infections tend to both appear and with treatment disappear more quickly it may also affect the scrotum
tinea versicolor
tinea versicolor also known as dermatomycosis furfuracea pityriasis versicolor and tinea flava is a condition characterized by a skin eruption on the trunk and proximal extremities recent research has shown that the majority of tinea versicolor is caused by the malassezia globosa fungus although malassezia furfur is responsible for a small number of cases these yeasts are normally found on the human skin and only become troublesome under certain circumstances such as a warm and humid environment although the exact conditions that cause initiation of the disease process are poorly understood
tinea versicolor also known as dermatomycosis furfuracea pityriasis versicolor and tinea flava is a condition characterized by a skin eruption on the trunk and proximal extremities recent research has shown that the majority of tinea versicolor is caused by the malassezia globosa fungus although malassezia furfur is responsible for a small number of cases these yeasts are normally found on the human skin and only become troublesome under certain circumstances such as a warm and humid environment although the exact conditions that cause initiation of the disease process are poorly understood the condition pityriasis versicolor was first identified in 1846 versicolor comes from the latin from versāre to turn color it is also commonly referred to as peter elam s disease in many parts of south asia
candidiasis
candidiasis is a fungal infection due to any type of candida a type of yeast when it affects the mouth it is commonly called thrush signs and symptoms include white patches on the tongue or other areas of the mouth and throat other symptoms may include soreness and problems swallowing when it affects the vagina it is commonly called a yeast infection signs and symptoms include genital itching burning and sometimes a white cottage cheese like discharge from the vagina less commonly the penis may be affected resulting in itchiness very rarely the infection may become invasive spreading throughout the body resulting in fevers along with other symptoms depending on the parts of the body affected
candidiasis is a fungal infection due to any type of candida a type of yeast when it affects the mouth it is commonly called thrush signs and symptoms include white patches on the tongue or other areas of the mouth and throat other symptoms may include soreness and problems swallowing when it affects the vagina it is commonly called a yeast infection signs and symptoms include genital itching burning and sometimes a white cottage cheese like discharge from the vagina less commonly the penis may be affected resulting in itchiness very rarely the infection may become invasive spreading throughout the body resulting in fevers along with other symptoms depending on the parts of the body affected more than 20 types of candida can cause infection with candida albicans being the most common infections of the mouth are most common among children less than one month old the elderly and those with weak immune systems conditions that result in a weak immune system include hiv aids the medications used after organ transplantation diabetes and the use of corticosteroids other risks include dentures and following antibiotic therapy vaginal infections occur more commonly during pregnancy in those with weak immune systems and following antibiotic use risk for widespread infection includes being in an intensive care unit following surgery low birth weight infants and those with weak immune systems efforts to prevent infections of the mouth include the use of chlorhexidine mouth wash in those with poor immune function and washing out the mouth following the use of inhaled steroids little evidence supports probiotics for either prevention or treatment even among those with frequent vaginal infections for infections of the mouth treatment with topical clotrimazole or nystatin is usually effective oral or intravenous fluconazole itraconazole or amphotericin b may be used if these do not work a number of topical antifungal medications may be used for vaginal infections including clotrimazole in those with widespread disease an echinocandin such as caspofungin or micafungin is used a number of weeks of intravenous amphotericin b may be used as an alternative in certain groups at very high risk antifungal medications may be used preventatively infections of the mouth occur in about 6 of babies less than a month old about 20 of those receiving chemotherapy for cancer and 20 of those with aids also develop the disease about three quarters of women have at least one yeast infection at some time during their lives widespread disease is rare except in those who have risk factors
vaginal yeast infection
vaginal yeast infection also known as candidal vulvovaginitis and vaginal thrush is excessive growth of yeast in the vagina that results in irritation the most common symptom is vaginal itching which may be severe other symptoms include burning with urination white and thick vaginal discharge that typically does not smell bad pain with sex and redness around the vagina symptoms often worsen just before a woman s period
coccidioidomycosis
coccidioidomycosis kɒkˌsɪdiɔɪdoʊmaɪˈkoʊsɪs kok sid ee oy doh my koh sis commonly known as cocci valley fever as well as california fever desert rheumatism and san joaquin valley fever is a mammalian fungal disease caused by coccidioides immitis or coccidioides posadasii it is endemic in certain parts of arizona california nevada new mexico texas utah and northern mexico
coccidioidomycosis kɒkˌsɪdiɔɪdoʊmaɪˈkoʊsɪs kok sid ee oy doh my koh sis commonly known as cocci valley fever as well as california fever desert rheumatism and san joaquin valley fever is a mammalian fungal disease caused by coccidioides immitis or coccidioides posadasii it is endemic in certain parts of arizona california nevada new mexico texas utah and northern mexico c immitis is a dimorphic saprophytic fungus that grows as a mycelium in the soil and produces a spherule form in the host organism it resides in the soil in certain parts of the southwestern united states most notably in california and arizona it is also commonly found in northern mexico and parts of central and south america c immitis is dormant during long dry spells then develops as a mold with long filaments that break off into airborne spores when it rains the spores known as arthroconidia are swept into the air by disruption of the soil such as during construction farming or an earthquake windstorms may also cause epidemics far from endemic areas in december 1977 a windstorm in an endemic area around arvin ca led to several hundred cases including deaths in non endemic areas hundreds of miles away coccidioidomycosis is a common cause of community acquired pneumonia in the endemic areas of the united states infections usually occur due to inhalation of the arthroconidial spores after soil disruption the disease is not contagious in some cases the infection may recur or become chronic
histoplasmosis
histoplasmosis also known as cave disease darling s disease ohio valley disease reticuloendotheliosis spelunker ’ s lung and caver s disease is a disease caused by the fungus histoplasma capsulatum symptoms of this infection vary greatly but the disease affects primarily the lungs occasionally other organs are affected this is called disseminated histoplasmosis and it can be fatal if left untreated
blastomycosis
blastomycosis also known as north american blastomycosis blastomycetic dermatitis and gilchrist s disease is a fungal infection of humans and other animals notably dogs and occasionally cats caused by the organism blastomyces dermatitidis endemic to portions of north america blastomycosis causes clinical symptoms similar to histoplasmosis the disease occurs in several endemic areas the most important of which is in eastern north america particularly in the western and northern periphery of the great lakes basin extending eastward along the south shore of the st lawrence river valley and southward in the territory spanned by the central appalachian mountains in the east to the mississippi river valley in the west sporadic cases have been reported in continental africa t
sporotrichosis
sporotrichosis also known as rose gardener s disease is a disease caused by the infection of the fungus sporothrix schenckii this fungal disease usually affects the skin although other rare forms can affect the lungs joints bones and even the brain because roses can spread the disease it is one of a few diseases referred to as rose thorn or rose gardeners disease
sporotrichosis also known as rose gardener s disease is a disease caused by the infection of the fungus sporothrix schenckii this fungal disease usually affects the skin although other rare forms can affect the lungs joints bones and even the brain because roses can spread the disease it is one of a few diseases referred to as rose thorn or rose gardeners disease because s schenckii is naturally found in soil hay sphagnum moss and plants it usually affects farmers gardeners and agricultural workers it enters through small cuts and abrasions in the skin to cause the infection in case of sporotrichosis affecting the lungs the fungal spores enter through the respiratory pathways sporotrichosis can also be acquired from handling cats with the disease it is an occupational hazard for veterinarians sporotrichosis progresses slowly the first symptoms may appear 1 to 12 weeks average 3 weeks after the initial exposure to the fungus serious complications can also develop in patients who have a compromised immune system
aspergillosis
aspergillosis is the name given to a wide variety of diseases caused by infection by fungi of the genus aspergillus the majority of cases occur in people with underlying illnesses such as tuberculosis or chronic obstructive pulmonary disease copd but with otherwise healthy immune systems most commonly aspergillosis occurs in the form of chronic pulmonary aspergillosis cpa aspergilloma or allergic bronchopulmonary aspergillosis abpa some forms are intertwined for example abpa and simple aspergilloma can progress to cpa
cryptococcosis
eumycetoma
malaria
malaria is a mosquito borne infectious disease affecting humans and other animals caused by parasitic protozoans a group of single celled microorganisms belonging to the plasmodium type malaria causes symptoms that typically include fever fatigue vomiting and headaches in severe cases it can cause yellow skin seizures coma or death symptoms usually begin ten to fifteen days after being bitten if not properly treated people may have recurrences of the disease months later in those who have recently survived an infection reinfection usually causes milder symptoms this partial resistance disappears over months to years if the person has no continuing exposure to malaria
malaria is a mosquito borne infectious disease affecting humans and other animals caused by parasitic protozoans a group of single celled microorganisms belonging to the plasmodium type malaria causes symptoms that typically include fever fatigue vomiting and headaches in severe cases it can cause yellow skin seizures coma or death symptoms usually begin ten to fifteen days after being bitten if not properly treated people may have recurrences of the disease months later in those who have recently survived an infection reinfection usually causes milder symptoms this partial resistance disappears over months to years if the person has no continuing exposure to malaria the disease is most commonly transmitted by an infected female anopheles mosquito the mosquito bite introduces the parasites from the mosquito s saliva into a person s blood the parasites travel to the liver where they mature and reproduce five species of plasmodium can infect and be spread by humans most deaths are caused by p falciparum because p vivax p ovale and p malariae generally cause a milder form of malaria the species p knowlesi rarely causes disease in humans malaria is typically diagnosed by the microscopic examination of blood using blood films or with antigen based rapid diagnostic tests methods that use the polymerase chain reaction to detect the parasite s dna have been developed but are not widely used in areas where malaria is common due to their cost and complexity the risk of disease can be reduced by preventing mosquito bites through the use of mosquito nets and insect repellents or with mosquito control measures such as spraying insecticides and draining standing water several medications are available to prevent malaria in travellers to areas where the disease is common occasional doses of the medication sulfadoxine pyrimethamine are recommended in infants and after the first trimester of pregnancy in areas with high rates of malaria despite a need no effective vaccine exists although efforts to develop one are ongoing the recommended treatment for malaria is a combination of antimalarial medications that includes an artemisinin the second medication may be either mefloquine lumefantrine or sulfadoxine pyrimethamine quinine along with doxycycline may be used if an artemisinin is not available it is recommended that in areas where the disease is common malaria is confirmed if possible before treatment is started due to concerns of increasing drug resistance resistance among the parasites has developed to several antimalarial medications for example chloroquine resistant p falciparum has spread to most malarial areas and resistance to artemisinin has become a problem in some parts of southeast asia the disease is widespread in the tropical and subtropical regions that exist in a broad band around the equator this includes much of sub saharan africa asia and latin america in 2015 there were 214 million cases of malaria worldwide resulting in an estimated 438 000 deaths 90 of which occurred in africa rates of disease have decreased from 2000 to 2015 by 37 but increased from 2014 during which there were 198 million cases malaria is commonly associated with poverty and has a major negative effect on economic development in africa it is estimated to result in losses of us 12 billion a year due to increased healthcare costs lost ability to work and negative effects on tourism
leishmaniasis
leishmaniasis also spelled leishmaniosis is a disease caused by protozoan parasites of the genus leishmania and spread by the bite of certain types of sandflies the disease can present in three main ways cutaneous mucocutaneous or visceral leishmaniasis the cutaneous form presents with skin ulcers while the mucocutaneous form presents with ulcers of the skin mouth and nose and the visceral form starts with skin ulcers and then later presents with fever low red blood cells and enlarged spleen and liver
african trypanosomiasis
african trypanosomiasis also known as sleeping sickness is a parasitic disease of humans and other animals it is caused by protozoa of the species trypanosoma brucei there are two types that infect humans trypanosoma brucei gambiense t b g and trypanosoma brucei rhodesiense t b r t b g causes over 98 of reported cases both are usually transmitted by the bite of an infected tsetse fly and are most common in rural areas
african trypanosomiasis also known as sleeping sickness is a parasitic disease of humans and other animals it is caused by protozoa of the species trypanosoma brucei there are two types that infect humans trypanosoma brucei gambiense t b g and trypanosoma brucei rhodesiense t b r t b g causes over 98 of reported cases both are usually transmitted by the bite of an infected tsetse fly and are most common in rural areas initially in the first stage of the disease there are fevers headaches itchiness and joint pains this begins one to three weeks after the bite weeks to months later the second stage begins with confusion poor coordination numbness and trouble sleeping diagnosis is via finding the parasite in a blood smear or in the fluid of a lymph node a lumbar puncture is often needed to tell the difference between first and second stage disease prevention of severe disease involves screening the population at risk with blood tests for t b g treatment is easier when the disease is detected early and before neurological symptoms occur treatment of the first stage is with the medications pentamidine or suramin treatment of the second stage involves eflornithine or a combination of nifurtimox and eflornithine for t b g while melarsoprol works for both stages it is typically only used for t b r due to serious side effects without treatment it typically results in death the disease occurs regularly in some regions of sub saharan africa with the population at risk being about 70 million in 36 countries as of 2010 it caused around 9 000 deaths per year down from 34 000 in 1990 an estimated 30 000 people are currently infected with 7000 new infections in 2012 more than 80 of these cases are in the democratic republic of the congo three major outbreaks have occurred in recent history one from 1896 to 1906 primarily in uganda and the congo basin and two in 1920 and 1970 in several african countries other animals such as cows may carry the disease and become infected in which case it is known as nagana
chagas disease
chagas disease also known as american trypanosomiasis is a tropical parasitic disease caused by the protozoan trypanosoma cruzi it is spread mostly by insects known as triatominae or kissing bugs the symptoms change over the course of the infection in the early stage symptoms are typically either not present or mild and may include fever swollen lymph nodes headaches or local swelling at the site of the bite after 8 – 12 weeks individuals enter the chronic phase of disease and in 60 – 70 it never produces further symptoms the other 30 to 40 of people develop further symptoms 10 to 30 years after the initial infection including enlargement of the ventricles of the heart in 20 to 30 leading to heart failure an enlarged esophagus or an enlarged colon may also occur in 10 of pe
toxoplasmosis
toxoplasmosis is a parasitic disease caused by toxoplasma gondii infections with toxoplasmosis usually cause no symptoms in adult humans occasionally there may be a few weeks or months of mild flu like illness such as muscle aches and tender lymph nodes in a small number of people eye problems may develop in those with a weak immune system severe symptoms such as seizures and poor coordination may occur if infected during pregnancy a condition known as congenital toxoplasmosis may affect the child
toxoplasmosis is a parasitic disease caused by toxoplasma gondii infections with toxoplasmosis usually cause no symptoms in adult humans occasionally there may be a few weeks or months of mild flu like illness such as muscle aches and tender lymph nodes in a small number of people eye problems may develop in those with a weak immune system severe symptoms such as seizures and poor coordination may occur if infected during pregnancy a condition known as congenital toxoplasmosis may affect the child toxoplasmosis is usually spread by eating poorly cooked food that contains cysts exposure to infected cat feces and from a mother to a child during pregnancy if the mother becomes infected rarely the disease may be spread by a blood transfusion it is not otherwise spread between people the parasite is only known to reproduce sexually in the cat family however it can infect most types of warm blooded animals including humans diagnosis is typically by testing the blood for antibodies or by testing the amniotic fluid for the parasite s dna prevention is by properly preparing and cooking food it is also recommended that pregnant women not clean cat litter boxes treatment of otherwise healthy people is usually not needed during pregnancy spiramycin or pyrimethamine sulfadiazine and folinic acid may be used for treatment up to half of the world s population are in the united states about 23 are affected and in some areas of the world this is up to 95 about 200 000 cases of congenital toxoplasmosis occur a year charles nicolle and louis manceaux first described the organism in 1908 in 1941 transmission during pregnancy from a mother to a child was confirmed
babesiosis
babesiosis is a malaria like parasitic disease caused by infection with babesia a genus of apicomplexa human babesiosis is an uncommon but emerging disease in the northeastern and midwestern united states and parts of europe and sporadic throughout the rest of the world it occurs in warm weather ticks transmit the human strain of babesiosis so it often presents with other tick borne illnesses such as lyme disease after trypanosomes babesia is thought to be the second most common blood parasite of mammals and they can have a major impact on health of domestic animals in areas without severe winters in cattle a major host the disease is known as texas cattle fever redwater or piroplasmosis
microsporidiosis
schistosomiasis
schistosomiasis also known as snail fever is a disease caused by parasitic flatworms called schistosomes the urinary tract or the intestines may be infected signs and symptoms may include abdominal pain diarrhea bloody stool or blood in the urine those who have been infected a long time may experience liver damage kidney failure infertility or bladder cancer squamous cell carcinoma in children it may cause poor growth and learning difficulty
infestation
swimmer s itch
swimmer ’ s itch or cercarial dermatitis is a short term immune reaction occurring in the skin of humans that have been infected by water borne schistosomatidae symptoms which include itchy raised papules commonly occur within hours of infection and do not generally last more than a week it is common in freshwater brackish and marine habitats worldwide incidence may be on the rise although this may also be attributed to better monitoring
fasciolosis
fasciolosis also known as fascioliasis fasciolasis distomatosis and liver rot is a parasitic worm infection caused by the common liver fluke fasciola hepatica as well as by fasciola gigantica the disease is a plant borne trematode zoonosis and is classified as a neglected tropical disease ntd it affects humans but its main host is ruminants such as cattle and sheep the disease progresses through four distinct phases an initial incubation phase of between a few days up to three months with little or no symptoms an invasive or acute phase which may manifest with fever malaise abdominal pain gastrointestinal symptoms urticaria anemia jaundice and respiratory symptoms the disease later progresses to a latent phase with less symptoms and ultimately into a chronic or obstru
fasciolosis also known as fascioliasis fasciolasis distomatosis and liver rot is a parasitic worm infection caused by the common liver fluke fasciola hepatica as well as by fasciola gigantica the disease is a plant borne trematode zoonosis and is classified as a neglected tropical disease ntd it affects humans but its main host is ruminants such as cattle and sheep the disease progresses through four distinct phases an initial incubation phase of between a few days up to three months with little or no symptoms an invasive or acute phase which may manifest with fever malaise abdominal pain gastrointestinal symptoms urticaria anemia jaundice and respiratory symptoms the disease later progresses to a latent phase with less symptoms and ultimately into a chronic or obstructive phase months to years later in the chronic state the disease causes inflammation of the bile ducts gall bladder and may cause gall stones as well as fibrosis while chronic inflammation is connected to increased cancer rates it is unclear whether fasciolosis is associated with increased cancer risk up to half of those infected display no symptoms and diagnosis is difficult because the worm eggs are often missed in fecal examination the methods of detection are through fecal examination parasite specific antibody detection or radiological diagnosis as well as laparotomy in case of a suspected outbreak it may be useful to keep track of dietary history which is also useful for exclusion of differential diagnoses fecal examination is generally not helpful because the worm eggs can seldom be detected in the chronic phase of the infection eggs appear in the feces first between 9 – 11 weeks post infection the cause of this is unknown and it is also difficult to distinguish between the different species of fasciola as well distinguishing them from echinostomes and fasciolopsis most immunodiagnostic tests detect infection with very high sensitivity and as concentration drops after treatment it is a very good diagnostic method clinically it is not possible to differentiate from other liver and bile diseases radiological methods can detect lesions in both acute and chronic infection while laparotomy will detect lesions and also occasionally eggs and live worms because of the size of the parasite as adult f hepatica 20 – 30 × 13 mm 0 79 – 1 18 × 0 51 inches or adult f gigantica 25 – 75 × 12 mm fasciolosis is a big concern the amount of symptoms depend on how many worms and what stage the infection is in the death rate is significant in both sheep and cattle but generally low among humans treatment with triclabendazole has been highly effective against the adult worms as well as various developing stages praziquantel is not effective and older drugs such as bithionol are moderately effective but also cause more side effects secondary bacterial infection causing cholangitis has also been a concern and can be treated with antibiotics and toxaemia may be treated with prednisolone humans are infected by eating watergrown plants primarily wild grown watercress in europe or morning glory in asia infection may also occur by drinking contaminated water with floating young fasciola or when using utensils washed with contaminated water cultivated plants do not spread the disease in the same capacity human infection is rare even if the infection rate is high among animals especially high rates of human infection have been found in bolivia peru and egypt and this may be due to consumption of certain foods no vaccine is available to protect people against fasciola infection preventative measures are primarily treating and immunization of the livestock which are required to host the live cycle of the worms veterinary vaccines are in development and their use is being considered by a number of countries on account of the risk to human health and economic losses resulting from livestock infection other methods include using molluscicides to decrease the number of snails that act as vectors but it is not practical educational methods to decrease consumption of wild watercress and other waterplants has been shown to work in areas with a high disease burden in some areas of the world where fascioliasis has been found endemic special control programs are in place or have been planned the types of control measures depend on the setting such as epidemiologic ecologic and cultural factors strict control of the growth and sale of watercress and other edible water plants is important individual people can protect themselves by not eating raw watercress and other water plants especially from endemic grazing areas travelers to areas with poor sanitation should avoid food and water that might be contaminated tainted vegetables grown in fields that might have been irrigated with polluted water should be thoroughly cooked as should viscera from potentially infected animals fascioliasis occurs in europe africa the americas as well as oceania recently worldwide losses in animal productivity due to fasciolosis were conservatively estimated at over us 3 2 billion per annum fasciolosis is now recognized as an emerging human disease the world health organization who has estimated that 2 4 million people are infected with fasciola and a further 180 million are at risk of infection
echinococcosis
echinococcosis also called hydatid disease hydatidosis or echinococcal disease is a parasitic disease of tapeworms of the echinococcus type the two main types of the disease are cystic echinococcosis and alveolar echinococcosis less common forms include polycystic echinococcosis and unicystic echinococcosis the disease often starts without symptoms and this may last for years the symptoms and signs that occur depend on the cyst s location and size alveolar disease usually begins in the liver but can spread to other parts of the body such as the lungs or brain when the liver is affected the person may have abdominal pain weight loss and turn slightly yellow from jaundice lung disease may cause pain in the chest shortness of breath and coughing
echinococcosis also called hydatid disease hydatidosis or echinococcal disease is a parasitic disease of tapeworms of the echinococcus type the two main types of the disease are cystic echinococcosis and alveolar echinococcosis less common forms include polycystic echinococcosis and unicystic echinococcosis the disease often starts without symptoms and this may last for years the symptoms and signs that occur depend on the cyst s location and size alveolar disease usually begins in the liver but can spread to other parts of the body such as the lungs or brain when the liver is affected the person may have abdominal pain weight loss and turn slightly yellow from jaundice lung disease may cause pain in the chest shortness of breath and coughing the disease is spread when food or water that contains the eggs of the parasite is eaten or by close contact with an infected animal the eggs are released in the stool of meat eating animals that are infected by the parasite commonly infected animals include dogs foxes and wolves for these animals to become infected they must eat the organs of an animal that contains the cysts such as sheep or rodents the type of disease that occurs in people depends on the type of echinococcus causing the infection it is a type of worm infection and is a neglected tropical disease diagnosis is usually by ultrasound though computer tomography ct or magnetic resonance imaging mri may also be used blood tests looking for antibodies against the parasite may be helpful as may biopsy prevention of cystic disease is by treating dogs that may carry the disease and vaccination of sheep treatment is often difficult the cystic disease may be drained through the skin followed by medication sometimes this type of disease is just watched the alveolar type often needs surgery followed by medications the medication used is albendazole which may be needed for years the alveolar disease may result in death the disease occurs in most areas of the world and currently affects about one million people in some areas of south america africa and asia up to 10 of the certain populations are affected in 2010 it caused about 1200 deaths down from 2000 in 1990 the economic cost of the disease is estimated to be around 3 billion usd a year it is classified as a neglected tropical disease and belongs to the group of diseases known as helminthiasis it can affect other animals such as pigs cows and horses
tapeworm infection
tapeworm infection is the infestation of the digestive tract by a species of parasitic cestodal flatworm called tapeworms live tapeworm larvae coenuri are sometimes ingested by consuming undercooked food once inside the digestive tract a larva can grow into a very large adult tapeworm additionally many tapeworm larvae cause symptoms in an intermediate host for example cysticercosis is a disease involving larval tapeworms in the human body
alveolar hydatid disease
taeniasis
taeniasis is a parasitic disease due to infection with tapeworms belonging to the genus taenia the two most important human pathogens in the genus are taenia solium the pork tapeworm and taenia saginata the beef tapeworm the third species taenia asiatica is found only in east asia taeniasis is generally asymptomatic but severe infection causes weight loss dizziness abdominal pain diarrhea headaches nausea constipation chronic indigestion and loss of appetite
cysticercosis
cysticercosis is a tissue infection caused by the young form of the pork tapeworm people may have little or no symptoms for years in some cases particularly in asia solid lumps of between one and two centimetres may develop under the skin after months or years these lumps can become painful and swollen and then resolve a specific form called neurocysticercosis which affects the brain can give neurological symptoms in developing countries this is one of the most common causes of seizures
cysticercosis is a tissue infection caused by the young form of the pork tapeworm people may have little or no symptoms for years in some cases particularly in asia solid lumps of between one and two centimetres may develop under the skin after months or years these lumps can become painful and swollen and then resolve a specific form called neurocysticercosis which affects the brain can give neurological symptoms in developing countries this is one of the most common causes of seizures cysticercosis is usually acquired by eating food or drinking water that has tapeworm eggs in it among foods uncooked vegetables are the major source the tapeworm eggs are present in the feces of a person infected with the adult worms a condition known as taeniasis taeniasis in the strict sense is a different disease and is due to eating cysts in poorly cooked pork people who live with someone with the tapeworm have a greater risk of getting cysticercosis the diagnosis can be made by aspiration of a cyst taking pictures of the brain with computer tomography ct or magnetic resonance imaging mri are most useful for the diagnosis of disease in the brain an increased number of a type of white blood cell called eosinophils in the cerebral spinal fluid and blood is also an indicator infection can be effectively prevented by personal hygiene and sanitation this includes cooking pork well proper toilets and sanitary practices and improved access to clean water treating those with taeniasis is important to prevent spread treating the disease when it does not involve the nervous system may not be required treatment of those with neurocysticercosis may be with the medications praziquantel or albendazole these may be required for long periods of time steroids for anti inflammation during treatment and anti seizure medications may also be required surgery is sometimes done to remove the cysts the pork tapeworm is particularly common in asia sub saharan africa and latin america in some areas it is believed that up to 25 of people are affected in the developed world it is very uncommon worldwide as of 2010 it caused about 1 200 deaths up from 700 in 1990 cysticercosis also affects pigs and cows but rarely causes symptoms as most do not live long enough the disease has occurred in humans throughout history it is one of the neglected tropical diseases
diphyllobothriasis
diphyllobothriasis is the infection caused by tapeworms of the diphyllobothrium genus commonly diphyllobothrium latum
sparganosis
sparganosis is a parasitic infection caused by the plerocercoid larvae of diphyllobothroid tapeworms belonging to the genus spirometra it was first described by patrick manson from china in 1882 and the first human case was reported by charles wardell stiles from florida in 1908 the infection is transmitted by ingestion of contaminated water ingestion of a second intermediate host such as a frog or snake or contact between a second intermediate host and an open wound or mucous membrane humans are the accidental hosts in the life cycle while dogs cats and other mammals are definitive hosts copepods freshwater crustaceans are the first intermediate hosts and various amphibians and reptiles are second intermediate hosts
sparganosis is a parasitic infection caused by the plerocercoid larvae of diphyllobothroid tapeworms belonging to the genus spirometra it was first described by patrick manson from china in 1882 and the first human case was reported by charles wardell stiles from florida in 1908 the infection is transmitted by ingestion of contaminated water ingestion of a second intermediate host such as a frog or snake or contact between a second intermediate host and an open wound or mucous membrane humans are the accidental hosts in the life cycle while dogs cats and other mammals are definitive hosts copepods freshwater crustaceans are the first intermediate hosts and various amphibians and reptiles are second intermediate hosts once a human becomes infected the plerocercoid larvae migrate to a subcutaneous location where they typically develop into a painful nodule migration to the brain results in cerebral sparganosis while migration to the eyes results in ocular sparganosis sparganosis is most prevalent in eastern asia although cases have been described in countries throughout the world in total approximately 300 cases have been described in the literature up to 2003 diagnosis is typically not made until the sparganum larva has been surgically removed praziquantel is the drug of choice although its efficacy is unknown and surgical removal of the sparganum is generally the best treatment public health interventions should focus on water and dietary sanitation as well as education about the disease in rural areas and discouragement of the use of poultices
dracunculiasis
dracunculiasis also called guinea worm disease gwd is an infection by the guinea worm a person becomes infected when they drink water that contains water fleas infected with guinea worm larvae initially there are no symptoms about one year later the person develops a painful burning feeling as the female worm forms a blister in the skin usually on the lower limb the worm then comes out of the skin over the course of a few weeks during this time it may be difficult to walk or work it is very uncommon for the disease to cause death
onchocerciasis
onchocerciasis also known as river blindness and robles disease is a disease caused by infection with the parasitic worm onchocerca volvulus symptoms include severe itching bumps under the skin and blindness it is the second most common cause of blindness due to infection after trachoma
filariasis
filariasis or philariasis is a parasitic disease caused by an infection with roundworms of the filarioidea type these are spread by blood feeding black flies and mosquitoes this disease belongs to the group of diseases called helminthiases eight known filarial nematodes use humans as their definitive hosts these are divided into three groups according to the niche within the body they occupy
lymphatic filariasis
lymphatic filariasis also known as elephantiasis is a human disease caused by parasitic worms known as filarial worms most cases of the disease have no symptoms some people however develop a syndrome called elephantiasis which is marked by severe swelling in the arms legs or genitals the skin may also become thicker and pain may occur the changes to the body can cause social and economic problems for the affected person
loa loa filariasis
loa loa filariasis is a skin and eye disease caused by the nematode worm loa loa humans contract this disease through the bite of a deer fly or mango fly chrysops spp the vectors for loa loa the adult loa loa filarial worm migrates throughout the subcutaneous tissues of humans occasionally crossing into subconjunctival tissues of the eye where it can be easily observed loa loa does not normally affect one s vision but can be painful when moving about the eyeball or across the bridge of the nose the disease can cause red itchy swellings below the skin called calabar swellings the disease is treated with the drug diethylcarbamazine dec and when appropriate surgical methods may be employed to remove adult worms from the conjunctiva
trichinosis
trichinosis trichinellosis or trichiniasis is a parasitic disease caused by roundworms of the genus trichinella infection was once very common but is now rare in the developed world the incidence of trichinosis in the u s has decreased dramatically in the past century during 2008 2010 an annual average of 20 cases per year were reported in the united states several subspecies cause human disease but t spiralis is the most known infection may occur without symptoms while intestinal invasion can cause diarrhea abdominal pain or vomiting larval migration into muscle tissue one week after being infected can cause edema of the face or around the eyes conjunctivitis fever muscle pains splinter hemorrhages rashes and peripheral eosinophilia life threatening cases can result
hookworm infection
hookworm infection also known as hookworm disease is an infection by a parasitic bloodsucking roundworm hookworm infections include ancylostomiasis and necatoriasis these worms live in the small intestine of their host which may be a bird or a mammal such as a dog cat or human hookworm infection in pregnancy can cause retarded growth of the fetus premature birth and a low birth weight hookworms in children can cause intellectual cognitive and growth problems
cutaneous larva migrans
cutaneous larva migrans abbreviated clm is a skin disease in humans caused by the larvae of various nematode parasites of the hookworm family ancylostomatidae the most common species causing this disease in the americas is ancylostoma braziliense these parasites live in the intestines of dogs cats and wild animals and should not be confused with other members of the hookworm family for which humans are definitive hosts namely ancylostoma duodenale and necator americanus
toxocariasis
toxocariasis is an illness of humans caused by larvae immature worms of either the dog roundworm toxocara canis the cat roundworm toxocara cati or the fox roundworm toxocara canis toxocariasis is often called visceral larva migrans vlm depending on geographic location degree of eosinophilia eye and or pulmonary signs the terms ocular larva migrans olm weingarten s disease frimodt møller s syndrome and eosinophilic pseudoleukemia are applied to toxocariasis other terms sometimes or rarely used include nematode ophthalmitis toxocaral disease toxocarose and covert toxocariasis this zoonotic helminthic infection is a major cause of blindness and may provoke rheumatic neurologic or asthmatic symptoms humans normally become infected by ingestion of embryonated eggs
helminthiasis
helminthiasis plural helminthiases also known as worm infection is any macroparasitic disease of humans and other animals in which a part of the body is infected with parasitic worms known as helminths there are numerous species of these parasites which are broadly classified into tapeworms flukes and roundworms they often live in the gastrointestinal tract of their hosts but they may also burrow into other organs where they induce physiological damage
helminthiasis plural helminthiases also known as worm infection is any macroparasitic disease of humans and other animals in which a part of the body is infected with parasitic worms known as helminths there are numerous species of these parasites which are broadly classified into tapeworms flukes and roundworms they often live in the gastrointestinal tract of their hosts but they may also burrow into other organs where they induce physiological damage soil transmitted helminthiasis and schistosomiasis are the most important helminthiases and are among the neglected tropical diseases this group of helmianthiases have been targeted under the joint action of the world s leading pharmaceutical companies and non governmental organizations through a project launched in 2012 called the london declaration on neglected tropical diseases which aims to control or eradicate certain neglected tropical diseases by 2020 helminthiasis has been found to result in poor birth outcome poor cognitive development poor school and work performance poor socioeconomic development and poverty chronic illness malnutrition and anemia are further examples of secondary effects soil transmitted helminthiases are responsible for parasitic infections in as much as a quarter of the human population worldwide one well known example of soil transmitted helminthiases is ascariasis
pediculosis
pediculosis is an infestation of lice blood feeding ectoparasitic insects of the order phthiraptera the condition can occur in almost any species of warm blooded animal i e mammals and birds including humans although pediculosis in humans may properly refer to lice infestation of any part of the body the term is sometimes used loosely to refer to pediculosis capitis the infestation of the human head with the specific head louse
scabies
scabies known as the seven year itch is a contagious skin infestation by the mite sarcoptes scabiei the most common symptoms are severe itchiness and a pimple like rash occasionally tiny burrows may be seen in the skin when first infected usually two to six weeks are required before symptoms occur if a person develops a second infection later in life symptoms may begin within a day these symptoms can be present across most of the body or just certain areas such as the wrists between fingers or along the waistline the head may be affected but this is typically only in young children the itch is often worse at night scratching may cause skin breakdown and an additional bacterial infection of the skin
scabies known as the seven year itch is a contagious skin infestation by the mite sarcoptes scabiei the most common symptoms are severe itchiness and a pimple like rash occasionally tiny burrows may be seen in the skin when first infected usually two to six weeks are required before symptoms occur if a person develops a second infection later in life symptoms may begin within a day these symptoms can be present across most of the body or just certain areas such as the wrists between fingers or along the waistline the head may be affected but this is typically only in young children the itch is often worse at night scratching may cause skin breakdown and an additional bacterial infection of the skin scabies is caused by infection with the female mite sarcoptes scabiei the mites burrow into the skin to live and deposit eggs the symptoms of scabies are due to an allergic reaction to the mites often only between ten and fifteen mites are involved in an infection scabies is most often spread during a relatively long period of direct skin contact with an infected person such as that which may occur during sex spread of disease may occur even if the person has not developed symptoms yet crowded living conditions such as those found in child care facilities group homes and prisons increase the risk of spread areas with a lack of access to water also have higher rates of disease crusted scabies is a more severe form of the disease it typically only occurs in those with a poor immune system and people may have millions of mites making them much more contagious in these cases spread of infection may occur during brief contact or via contaminated objects the mite is very small and usually not directly visible diagnosis is based on the signs and symptoms a number of medications are available to treat those infected including permethrin crotamiton and lindane creams and ivermectin pills sexual contacts within the last month and people who live in the same house should also be treated at the same time bedding and clothing used in the last three days should be washed in hot water and dried in a hot dryer as the mite does not live for more than three days away from human skin more washing is not needed symptoms may continue for two to four weeks following treatment if after this time there continue to be symptoms retreatment may be needed scabies is one of the three most common skin disorders in children along with ringworm and bacterial skin infections as of 2010 it affects approximately 100 million people 1 5 of the world population and is equally common in both sexes the young and the old are more commonly affected it also occurs more commonly in the developing world and tropical climates the word scabies is from latin scabere to scratch other animals do not spread human scabies infection in other animals is typically caused by slightly different but related mites and is known as sarcoptic mange
acariasis
myiasis
myiasis ˈmaɪ əsᵻs or maɪˈaɪ əsᵻs is the parasitic infestation of the body of a live mammal by fly larvae maggots that grow inside the host while feeding on its tissue although flies are most commonly attracted to open wounds and urine or feces soaked fur some species including the most common myiatic flies the botfly blowfly and screwfly can create an infestation even on unbroken skin and have been known to use moist soil and non myiatic flies such as the common housefly as vector agents for their parasitic larvae
myiasis ˈmaɪ əsᵻs or maɪˈaɪ əsᵻs is the parasitic infestation of the body of a live mammal by fly larvae maggots that grow inside the host while feeding on its tissue although flies are most commonly attracted to open wounds and urine or feces soaked fur some species including the most common myiatic flies the botfly blowfly and screwfly can create an infestation even on unbroken skin and have been known to use moist soil and non myiatic flies such as the common housefly as vector agents for their parasitic larvae colloquialisms for myiasis include flystrike and blowfly strike and the victim or the tissue may be described as fly blown the name of the condition derives from ancient greek μυῖα myia meaning fly because some animals particularly domestic animals cannot react as effectively as humans to the causes and effects of myiasis such infestations present a severe and continuing problem for livestock industries worldwide causing severe economic losses where they are not mitigated by human action although typically a far greater issue for animals myiasis is also a relatively frequent affliction of humans in rural tropical regions where myiatic flies thrive and often may require medical attention to surgically remove the parasites myiasis varies widely in the forms it takes and its effects on the victims such variations depend largely on the fly species and where the larvae are located some flies lay eggs in open wounds other larvae may invade unbroken skin or enter the body through the nose or ears and still others may be swallowed if the eggs are deposited on the lips or on food
demodicosis
demodicosis also called demodectic mange or red mange is caused by a sensitivity to and overpopulation of demodex canis as the animal s immune system is unable to keep the mites under control demodex is a genus of mite in the family demodicidae demodex canis occurs naturally in the hair follicles of most dogs in low numbers around the face and other areas of the body in most dogs these mites never cause problems however in certain situations such as an underdeveloped or impaired immune system intense stress or malnutrition the mites can reproduce rapidly causing symptoms in sensitive dogs that range from mild irritation and hair loss on a small patch of skin to severe and widespread inflammation secondary infection and in rare cases can be a life threatening condition small
protothecosis
protothecosis is a disease found in dogs cats cattle and humans caused by a type of green alga known as prototheca that lacks chlorophyll it and its close relative helicosporidium are unusual in that they are actually green algae that have become parasites the two most common species are prototheca wickerhamii and prototheca zopfii both are known to cause disease in dogs while most human cases are caused by p wickerhami prototheca is found worldwide in sewage and soil infection is rare despite high exposure and can be related to a defective immune system in dogs females and collies are most commonly affected
protothecosis is a disease found in dogs cats cattle and humans caused by a type of green alga known as prototheca that lacks chlorophyll it and its close relative helicosporidium are unusual in that they are actually green algae that have become parasites the two most common species are prototheca wickerhamii and prototheca zopfii both are known to cause disease in dogs while most human cases are caused by p wickerhami prototheca is found worldwide in sewage and soil infection is rare despite high exposure and can be related to a defective immune system in dogs females and collies are most commonly affected the first human case was identified in 1964 in sierra leone
post polio syndrome
post polio syndrome pps or post poliomyelitis syndrome or post polio sequelae is a condition that affects approximately 25 – 40 of people who have previously survived an acute attack of poliomyelitis — a viral infection of the nervous system — after the initial infection typically the symptoms appear 15 – 30 years after recovery from the original paralytic attack at an age of 35 to 60 symptoms include acute or increased muscular weakness pain in the muscles and fatigue the same symptoms may also occur years after a nonparalytic polio npp infection
group a streptococcal infection
a group a streptococcal infection is an infection with group a streptococcus gas streptococcus pyogenes comprises the vast majority of the lancefield group a streptococci and is often used as a synonym for gas however s dysgalactiae can also be group a s pyogenes is a beta hemolytic species of gram positive bacteria that is responsible for a wide range of both invasive and noninvasive infections
adenovirus infection
adenovirus infections most commonly cause illness of the respiratory system however depending on the infecting serotype they may also cause various other illnesses and presentations
human papillomavirus infection
human papillomavirus infection is an infection by human papillomavirus hpv most hpv infections cause no symptoms and resolve spontaneously in some they persist and result in warts or precancerous lesions the precancerous lesions increase the risk of cancer of the cervix vulva vagina penis anus mouth or throat nearly all cervical cancer is due to hpv with two types hpv 16 and hpv 18 accounting for 70 of cases between 60 and 90 of the other cancers are also linked to hpv hpv 6 and hpv 11 are common causes of genital warts and respiratory papillomatosis
human papillomavirus infection is an infection by human papillomavirus hpv most hpv infections cause no symptoms and resolve spontaneously in some they persist and result in warts or precancerous lesions the precancerous lesions increase the risk of cancer of the cervix vulva vagina penis anus mouth or throat nearly all cervical cancer is due to hpv with two types hpv 16 and hpv 18 accounting for 70 of cases between 60 and 90 of the other cancers are also linked to hpv hpv 6 and hpv 11 are common causes of genital warts and respiratory papillomatosis hpv infection is caused by a human papillomavirus a dna virus from the papillomavirus family of which over 150 types are known more than 40 types are transmitted through sexual contact and infect the anus and genitals risk factors for persistent hpv infections include early age of first sexual intercourse multiple partners smoking and poor immune function hpv is typically spread by sustained direct skin to skin contact with vaginal and anal sex being the most common methods occasionally it can spread from a mother to her baby during pregnancy it does not spread via common items like toilet seats people can become infected with more than one type of hpv hpv only affects humans hpv vaccines can prevent the most common types of infection to be effective they must be used before an infection occurs and are therefore recommended between the ages of nine and 13 cervical cancer screening such as with the papanicolaou test pap or looking at the cervix after using acetic acid can detect early cancer or abnormal cells that may develop into cancer this allows for early treatment which results in better outcomes screening has reduced both the number and deaths from cervical cancer in the developed world warts can be removed by freezing hpv is the most common sexually transmitted infection globally most people are infected at some point in their lives in 2012 about 528 000 new cases and 266 000 deaths occurred from cervical cancer worldwide around 85 of these occurred in the developing world in the united states about 27 000 cases of cancer due to hpv occur each year about 1 of sexually active adults have genital warts while cases of warts have been described since the time of ancient greece their viral nature was discovered in 1907
helicobacter pylori
helicobacter pylori previously campylobacter pylori is a gram negative microaerophilic bacterium found usually in the stomach it was identified in 1982 by australian scientists barry marshall and robin warren who found that it was present in a person with chronic gastritis and gastric ulcers conditions not previously believed to have a microbial cause it is also linked to the development of duodenal ulcers and stomach cancer however over 80 of individuals infected with the bacterium are asymptomatic and it may play an important role in the natural stomach ecology
oral cancer
oral cancer also known as mouth cancer is a type of head and neck cancer and is any cancerous tissue growth located in the oral cavity it may arise as a primary lesion originating in any of the tissues in the mouth by metastasis from a distant site of origin or by extension from a neighboring anatomic structure such as the nasal cavity alternatively the oral cancers may originate in any of the tissues of the mouth and may be of varied histologic types teratoma adenocarcinoma derived from a major or minor salivary gland lymphoma from tonsillar or other lymphoid tissue or melanoma from the pigment producing cells of the oral mucosa there are several types of oral cancers but around 90 are squamous cell carcinomas originating in the tissues that line the mouth and lips oral
cancer
cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body not all tumors are cancerous benign tumors do not spread to other parts of the body possible signs and symptoms include a lump abnormal bleeding prolonged cough unexplained weight loss and a change in bowel movements while these symptoms may indicate cancer they may have other causes over 100 cancers affect humans
cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body not all tumors are cancerous benign tumors do not spread to other parts of the body possible signs and symptoms include a lump abnormal bleeding prolonged cough unexplained weight loss and a change in bowel movements while these symptoms may indicate cancer they may have other causes over 100 cancers affect humans tobacco use is the cause of about 22 of cancer deaths another 10 is due to obesity poor diet lack of physical activity and drinking alcohol other factors include certain infections exposure to ionizing radiation and environmental pollutants in the developing world nearly 20 of cancers are due to infections such as hepatitis b hepatitis c and human papillomavirus hpv these factors act at least partly by changing the genes of a cell typically many genetic changes are required before cancer develops approximately 5 – 10 of cancers are due to inherited genetic defects from a person s parents cancer can be detected by certain signs and symptoms or screening tests it is then typically further investigated by medical imaging and confirmed by biopsy many cancers can be prevented by not smoking maintaining a healthy weight not drinking too much alcohol eating plenty of vegetables fruits and whole grains vaccination against certain infectious diseases not eating too much processed and red meat and avoiding too much sunlight exposure early detection through screening is useful for cervical and colorectal cancer the benefits of screening in breast cancer are controversial cancer is often treated with some combination of radiation therapy surgery chemotherapy and targeted therapy pain and symptom management are an important part of care palliative care is particularly important in people with advanced disease the chance of survival depends on the type of cancer and extent of disease at the start of treatment in children under 15 at diagnosis the five year survival rate in the developed world is on average 80 for cancer in the united states the average five year survival rate is 66 in 2012 about 14 1 million new cases of cancer occurred globally not including skin cancer other than melanoma it caused about 8 2 million deaths or 14 6 of human deaths the most common types of cancer in males are lung cancer prostate cancer colorectal cancer and stomach cancer in females the most common types are breast cancer colorectal cancer lung cancer and cervical cancer if skin cancer other than melanoma were included in total new cancers each year it would account for around 40 of cases in children acute lymphoblastic leukaemia and brain tumors are most common except in africa where non hodgkin lymphoma occurs more often in 2012 about 165 000 children under 15 years of age were diagnosed with cancer the risk of cancer increases significantly with age and many cancers occur more commonly in developed countries rates are increasing as more people live to an old age and as lifestyle changes occur in the developing world the financial costs of cancer were estimated at 1 16 trillion us dollars per year as of 2010
nasopharynx cancer
nasopharynx cancer or nasopharyngeal carcinoma npc is the most common cancer originating in the nasopharynx the uppermost region of the pharynx throat behind the nose where the nasal passages and auditory tubes join the remainder of the upper respiratory tract npc occurs in children and adults npc differs significantly from other cancers of the head and neck in its occurrence causes clinical behavior and treatment it is vastly more common in certain regions of east asia and africa than elsewhere with viral dietary and genetic factors implicated in its causation it is most common in males it is a squamous cell carcinoma or an undifferentiated type squamous epithelial cells are a flat type of cell found in the skin and the membranes that line some body cavities differenti
hypopharyngeal cancer
hypopharyngeal cancer is a disease in which malignant cells grow in the hypopharynx the area where the larynx and esophagus meet it first forms in the outer layer epithelium of the hypopharynx last part of the pharynx which is split into three areas progression of the disease is defined by the spread of cancer into one or more areas and into deeper tissues
esophageal cancer
esophageal cancer or oesophageal cancer is cancer arising from the esophagus — the food pipe that runs between the throat and the stomach symptoms often include difficulty in swallowing and weight loss other symptoms may include pain when swallowing a hoarse voice enlarged lymph nodes glands around the collarbone a dry cough and possibly coughing up or vomiting blood
stomach cancer
stomach cancer also known as gastric cancer is cancer developing from the lining of the stomach early symptoms may include heartburn upper abdominal pain nausea and loss of appetite later signs and symptoms may include weight loss yellowing of the skin and whites of the eyes vomiting difficulty swallowing and blood in the stool among others the cancer may spread from the stomach to other parts of the body particularly the liver lungs bones lining of the abdomen and lymph nodes
stomach cancer also known as gastric cancer is cancer developing from the lining of the stomach early symptoms may include heartburn upper abdominal pain nausea and loss of appetite later signs and symptoms may include weight loss yellowing of the skin and whites of the eyes vomiting difficulty swallowing and blood in the stool among others the cancer may spread from the stomach to other parts of the body particularly the liver lungs bones lining of the abdomen and lymph nodes the most common cause is infection by the bacterium helicobacter pylori which accounts for more than 60 of cases certain types of h pylori have greater risks than others other common causes include eating pickled vegetables and smoking about 10 of cases run in families and between 1 and 3 of cases are due to genetic syndromes inherited from a person s parents such as hereditary diffuse gastric cancer most cases of stomach cancers are gastric carcinomas this type can be divided into a number of subtypes lymphomas and mesenchymal tumors may also develop in the stomach most of the time stomach cancer develops in stages over years diagnosis is usually by biopsy done during endoscopy this is followed by medical imaging to determine if the disease has spread to other parts of the body japan and south korea two countries that have high rates of the disease screen for stomach cancer a mediterranean diet lowers the risk of cancer as does the stopping of smoking there is tentative evidence that treating h pylori decreases the future risk if cancer is treated early many cases can be cured treatments may include some combination of surgery chemotherapy radiation therapy and targeted therapy if treated late palliative care may be advised outcomes are often poor with a less than 10 5 year survival rate globally this is largely because most people with the condition present with advanced disease in the united states 5 year survival is 28 while in south korea it is over 65 partly due to screening efforts globally stomach cancer is the fifth leading cause of cancer and the third leading cause of death from cancer making up 7 of cases and 9 of deaths in 2012 it occurred in 950 000 people and caused 723 000 deaths before the 1930 s in much of the world including most western developed countries it was the most common cause of death from cancer rates of death have been decreasing in many areas of the world since then this is believed to be due to the eating of less salted and pickled foods as a result of the development of refrigeration as a method of keeping food fresh stomach cancer occurs most commonly in east asia and eastern europe it occurs twice as often in males as in females
meckel s diverticulum
a meckel s diverticulum a true congenital diverticulum is a slight bulge in the small intestine present at birth and a vestigial remnant of the omphalomesenteric duct also called the vitelline duct or yolk stalk it is the most common malformation of the gastrointestinal tract and is present in approximately 2 of the population with males more frequently experiencing symptoms meckel s diverticulum was first explained by fabricius hildanus in the sixteenth century and later named after johann friedrich meckel who described the embryological origin of this type of diverticulum in 1809
familial adenomatous polyposis
familial adenomatous polyposis fap is an inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine while these polyps start out benign malignant transformation into colon cancer occurs when they are left untreated three variants are known to exist fap and attenuated fap originally called hereditary flat adenoma syndrome are caused by apc gene defects on chromosome 5 while autosomal recessive fap or myh associated polyposis is caused by defects in the mutyh gene on chromosome 1 of the three fap itself is the most severe and most common although for all three the resulting colonic polyps and cancers are confined to the colon wall and removal can greatly reduce the spread of cancer
hereditary nonpolyposis colorectal cancer
lynch syndrome hnpcc or hereditary nonpolyposis colorectal cancer is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers including endometrial cancer second most common ovary stomach small intestine hepatobiliary tract upper urinary tract brain and skin the increased risk for these cancers is due to inherited mutations that impair dna mismatch repair it is a type of cancer syndrome
colorectal cancer
colorectal cancer crc also known as bowel cancer is the development of cancer from the colon or rectum parts of the large intestine it is due to the abnormal growth of cells that have the ability to invade or spread to other parts of the body signs and symptoms may include blood in the stool a change in bowel movements weight loss and feeling tired all the time
colorectal cancer crc also known as bowel cancer is the development of cancer from the colon or rectum parts of the large intestine it is due to the abnormal growth of cells that have the ability to invade or spread to other parts of the body signs and symptoms may include blood in the stool a change in bowel movements weight loss and feeling tired all the time most colorectal cancers are due to old age and lifestyle factors with only a small number of cases due to underlying genetic disorders some risk factors include diet obesity smoking and lack of physical activity dietary factors that increase the risk include red and processed meat as well as alcohol another risk factor is inflammatory bowel disease which includes crohn s disease and ulcerative colitis some of the inherited genetic disorders that can cause colorectal cancer include familial adenomatous polyposis and hereditary non polyposis colon cancer however these represent less than 5 of cases it typically starts as a benign tumor often in the form of a polyp which over time becomes cancerous bowel cancer may be diagnosed by obtaining a sample of the colon during a sigmoidoscopy or colonoscopy this is then followed by medical imaging to determine if the disease has spread screening is effective for preventing and decreasing deaths from colorectal cancer screening is recommended starting from the age of 50 to 75 during colonoscopy small polyps may be removed if found if a large polyp or tumor is found a biopsy may be performed to check if it is cancerous aspirin and other non steroidal anti inflammatory drugs decrease the risk their general use is not recommended for this purpose however due to side effects treatments used for colorectal cancer may include some combination of surgery radiation therapy chemotherapy and targeted therapy cancers that are confined within the wall of the colon may be curable with surgery while cancer that has spread widely are usually not curable with management focusing on improving quality of life and symptoms five year survival rates in the united states are around 65 this however depends on how advanced the cancer is whether or not all the cancer can be removed with surgery and the person s overall health globally colorectal cancer is the third most common type of cancer making up about 10 of all cases in 2012 there were 1 4 million new cases and 694 000 deaths from the disease it is more common in developed countries where more than 65 of cases are found it is less common in women than men
anal cancer
anal cancer is a cancer malignant tumor which arises from the anus the distal opening of the gastrointestinal tract it is a distinct entity from the more common colorectal cancer anal cancer is typically an anal squamous cell carcinoma that arises near the squamocolumnar junction often linked to human papillomavirus hpv infection it may be keratinizing basaloid or non keratinizing cloacogenic other types of anal cancer are adenocarcinoma lymphoma sarcoma or melanoma from data collected 2004 2010 the relative five year survival rate in the united states is 65 5 though individual rates may vary depending upon the stage of cancer at diagnosis and the response to treatment
liver cancer
liver cancer also known as hepatic cancer and primary hepatic cancer is cancer that starts in the liver cancer which has spread from elsewhere to the liver known as liver metastasis is more common than that which starts in the liver symptoms of liver cancer may include a lump or pain in the right side below the rib cage other symptoms includes swelling of the abdomen yellowish skin easy bruising weight loss and weakness
hepatocellular carcinoma
hepatocellular carcinoma hcc also called malignant hepatoma is the most common type of liver cancer most cases of hcc are as a result of either a viral hepatitis infection hepatitis b or c metabolic toxins such as alcohol or aflatoxin conditions like hemochromatosis and alpha 1 antitrypsin deficiency or nash hcc is relatively uncommon in the united states and many other developed countries it occurs most commonly in countries where hepatitis b infections are common
hepatoblastoma
hepatoblastoma is an uncommon malignant liver cancer occurring in infants and children and composed of tissue resembling fetal liver cells mature liver cells or bile duct cells they usually present with an abdominal mass the disease is most commonly diagnosed during a child s first three years of life alpha fetoprotein afp levels are commonly elevated but when afp is not elevated at diagnosis the prognosis is poor
cholangiocarcinoma
cholangiocarcinoma or bile duct cancer is a form of cancer that is composed of mutated epithelial cells or cells showing characteristics of epithelial differentiation that originate in the bile ducts which drain bile from the liver into the small intestine other biliary tract cancers include gallbladder cancer and cancer of the ampulla of vater
cholangiocarcinoma or bile duct cancer is a form of cancer that is composed of mutated epithelial cells or cells showing characteristics of epithelial differentiation that originate in the bile ducts which drain bile from the liver into the small intestine other biliary tract cancers include gallbladder cancer and cancer of the ampulla of vater cholangiocarcinoma is a relatively rare neoplasm that is classified as an adenocarcinoma a cancer that forms glands or secretes significant amounts of mucins it has an annual incidence rate of 1 – 2 cases per 100 000 in the western world but rates of cholangiocarcinoma have been rising worldwide over the past few decades prominent signs and symptoms of cholangiocarcinoma include abnormal liver function tests abdominal pain jaundice and weight loss other symptoms such as generalized itching fever and changes in color of stool or urine may also occur the disease is diagnosed through a combination of blood tests imaging endoscopy and sometimes surgical exploration with confirmation obtained after a pathologist examines cells from the tumor under a microscope known risk factors for cholangiocarcinoma include primary sclerosing cholangitis an inflammatory disease of the bile ducts infection with the parasitic liver flukes opisthorchis viverrini or clonorchis sinensis some congenital liver malformations and exposure to thorotrast thorium dioxide a chemical formerly used in medical imaging however most people with cholangiocarcinoma have no identifiable risk factors cholangiocarcinoma is considered to be an incurable and rapidly lethal cancer unless both the primary tumor and any metastases can be fully removed by surgery no potentially curative treatment exists except surgery but most people have advanced stage disease at presentation and are inoperable at the time of diagnosis people with cholangiocarcinoma are generally managed though not cured with chemotherapy radiation therapy and other palliative care measures these are also used as additional therapies after surgery in cases where resection has apparently been successful or nearly so
gallbladder cancer
gallbladder cancer is a relatively uncommon cancer it has peculiar geographical distribution being common in central and south america central and eastern europe japan and northern india it is also common in certain ethnic groups e g native american indians and hispanics if it is diagnosed early enough it can be cured by removing the gallbladder part of the liver and associated lymph nodes most often it is found after symptoms such as abdominal pain jaundice and vomiting occur and it has spread to other organs such as the liver
klatskin tumor
a klatskin tumor or hilar cholangiocarcinoma is a cholangiocarcinoma cancer of the biliary tree occurring at the confluence of the right and left hepatic bile ducts it is named after dr gerald klatskin
pancreatic cancer
pancreatic cancer arises when cells in the pancreas a glandular organ behind the stomach begin to multiply out of control and form a mass these cancerous cells have the ability to invade other parts of the body there are a number of types of pancreatic cancer the most common pancreatic adenocarcinoma accounts for about 85 of cases and the term pancreatic cancer is sometimes used to refer only to that type these adenocarcinomas start within the part of the pancreas which makes digestive enzymes several other types of cancer which collectively represent the majority of the non adenocarcinomas can also arise from these cells 1 2 of cases of pancreatic cancer are neuroendocrine tumors which arise from the hormone producing cells of the pancreas these are generally less aggre
pancreatic cancer arises when cells in the pancreas a glandular organ behind the stomach begin to multiply out of control and form a mass these cancerous cells have the ability to invade other parts of the body there are a number of types of pancreatic cancer the most common pancreatic adenocarcinoma accounts for about 85 of cases and the term pancreatic cancer is sometimes used to refer only to that type these adenocarcinomas start within the part of the pancreas which makes digestive enzymes several other types of cancer which collectively represent the majority of the non adenocarcinomas can also arise from these cells 1 2 of cases of pancreatic cancer are neuroendocrine tumors which arise from the hormone producing cells of the pancreas these are generally less aggressive than pancreatic adenocarcinoma signs and symptoms of the most common form of pancreatic cancer may include yellow skin abdominal or back pain unexplained weight loss light colored stools dark urine and loss of appetite there are usually no symptoms in the disease s early stages and symptoms that are specific enough to suggest pancreatic cancer typically do not develop until the disease has reached an advanced stage by the time of diagnosis pancreatic cancer has often spread to other parts of the body pancreatic cancer rarely occurs before the age of 40 and more than half of cases of pancreatic adenocarcinoma occur in those over 70 risk factors for pancreatic cancer include tobacco smoking obesity diabetes and certain rare genetic conditions about 25 of cases are linked to smoking and 5 – 10 are linked to inherited genes pancreatic cancer is usually diagnosed by a combination of medical imaging techniques such as ultrasound or computed tomography blood tests and examination of tissue samples biopsy the disease is divided into stages from early stage i to late stage iv screening the general population has not been found to be effective the risk of developing pancreatic cancer is lower among non smokers and people who maintain a healthy weight and limit their consumption of red or processed meat a smoker s chance of developing the disease decreases if they stop smoking and almost returns to that of the rest of the population after 20 years pancreatic cancer can be treated with surgery radiotherapy chemotherapy palliative care or a combination of these treatment options are partly based on the cancer stage surgery is the only treatment that can cure pancreatic adenocarcinoma and may also be done to improve quality of life without the potential for cure pain management and medications to improve digestion are sometimes needed early palliative care is recommended even for those receiving treatment that aims for a cure in 2012 pancreatic cancers of all types were the seventh most common cause of cancer deaths resulting in 330 000 deaths globally pancreatic cancer is the fifth most common cause of death from cancer in the united kingdom and the fourth most common in the united states the disease occurs most often in the developed world where about 70 of the new cases in 2012 originated pancreatic adenocarcinoma typically has a very poor prognosis after diagnosis 25 of people survive one year and 5 live for five years for cancers diagnosed early the five year survival rate rises to about 20 neuroendocrine cancers have better outcomes at five years from diagnosis 65 of those diagnosed are living though survival varies considerably depending on the type of tumor
glucagonoma
insulinoma
an insulinoma is a tumor of the pancreas that is derived from beta cells and secretes insulin it is a rare form of a neuroendocrine tumor most insulinomas are benign in that they grow exclusively at their origin within the pancreas but a minority metastasize insulinomas are one of the functional pannet group functional because it increases production of insulin pannet as an abbreviation of pancreatic neuroendocrine tumor in the medical subject headings classification insulinoma is the only sub type of islet cell adenoma
vipoma
a vipoma also known as verner – morrison syndrome after the physicians who first described it is a rare 1 per 10 000 000 per year endocrine tumor usually about 90 originating from non β islet cell of the pancreas that produce vasoactive intestinal peptide vip it may be associated with multiple endocrine neoplasia type 1
esthesioneuroblastoma
laryngeal cancer
laryngeal cancer also known as cancer of the larynx or laryngeal carcinoma are mostly squamous cell carcinomas reflecting their origin from the skin of the larynx cancer can develop in any part of the larynx but the cure rate is affected by the location of the tumour for the purposes of tumour staging the larynx is divided into three anatomical regions the glottis true vocal cords anterior and posterior commissures the supraglottis epiglottis arytenoids and aryepiglottic folds and false cords and the subglottis
lung cancer
lung cancer also known as lung carcinoma is a malignant lung tumor characterized by uncontrolled cell growth in tissues of the lung if left untreated this growth can spread beyond the lung by the process of metastasis into nearby tissue or other parts of the body most cancers that start in the lung known as primary lung cancers are carcinomas the two main types are small cell lung carcinoma sclc and non small cell lung carcinoma nsclc the most common symptoms are coughing including coughing up blood weight loss shortness of breath and chest pains
lung cancer also known as lung carcinoma is a malignant lung tumor characterized by uncontrolled cell growth in tissues of the lung if left untreated this growth can spread beyond the lung by the process of metastasis into nearby tissue or other parts of the body most cancers that start in the lung known as primary lung cancers are carcinomas the two main types are small cell lung carcinoma sclc and non small cell lung carcinoma nsclc the most common symptoms are coughing including coughing up blood weight loss shortness of breath and chest pains the vast majority 85 of cases of lung cancer are due to long term tobacco smoking about 10 – 15 of cases occur in people who have never smoked these cases are often caused by a combination of genetic factors and exposure to radon gas asbestos second hand smoke or other forms of air pollution lung cancer may be seen on chest radiographs and computed tomography ct scans the diagnosis is confirmed by biopsy which is usually performed by bronchoscopy or ct guidance prevention is by avoiding risk factors including smoking and air pollution treatment and long term outcomes depend on the type of cancer the stage degree of spread and the person s overall health most cases are not curable common treatments include surgery chemotherapy and radiotherapy nsclc is sometimes treated with surgery whereas sclc usually responds better to chemotherapy and radiotherapy worldwide in 2012 lung cancer occurred in 1 8 million people and resulted in 1 6 million deaths this makes it the most common cause of cancer related death in men and second most common in women after breast cancer the most common age at diagnosis is 70 years overall 17 4 of people in the united states diagnosed with lung cancer survive five years after the diagnosis while outcomes on average are worse in the developing world
adenocarcinoma in situ of the lung
in situ pulmonary adenocarcinoma ais previously called bronchioloalveolar carcinoma bac is a term describing certain variants of lung cancer arising in the distal bronchioles or alveoli that initially exhibit a specific non invasive growth pattern bac is a type of non small cell lung cancer nsclc ais is defined as a small ≤ 3 cm solitary tumour with pure alveolar epithelial appearance lepidic growth lacking any invasion of the interstitium if completely resected the prognosis of surgically treated ais is 100
pancoast tumor
a pancoast tumor also called a pulmonary sulcus tumor or superior sulcus tumor is a tumor of the pulmonary apex it is a type of lung cancer defined primarily by its location situated at the top end of either the right or left lung it typically spreads to nearby tissues such as the ribs and vertebrae most pancoast tumors are non small cell cancers pancoast tumors are named for henry pancoast a us radiologist who described them in 1924 and 1932
thymoma
thymoma is a tumor originating from the epithelial cells of the thymus thymoma is an uncommon tumor best known for its association with the neuromuscular disorder myasthenia gravis thymoma is found in 20 of patients with myasthenia gravis once diagnosed thymomas may be removed surgically in the rare case of a malignant tumor chemotherapy may be used
heart cancer
heart cancer is an extremely rare form of cancer that is divided into primary tumors of the heart and secondary tumors of the heart
giant cell tumor of bone
giant cell tumor of the bone gctob is a relatively uncommon tumor of the bone it is characterized by the presence of multinucleated giant cells osteoclast like cells malignancy in giant cell tumor is uncommon and occurs in about 2 of all cases however if malignant degeneration does occur it is likely to metastasize to the lungs giant cell tumors are normally benign with unpredictable behavior it is a heterogeneous tumor composed of three different cell populations the giant cell tumour stromal cells gctsc constitute the neoplastic cells which are from an osteoblastic origin and are classified based on expression of osteoblast cell markers such as alkaline phosphatase and osteocalcin in contrast the mononuclear histiocytic cells mnhc and multinucleated giant cell mngc
osteosarcoma
chondroblastoma
chondroblastoma is a rare benign locally aggressive bone tumor that typically affects the epiphyses or apophyses of long bones it is thought to arise from an outgrowth of immature cartilage cells chondroblasts from secondary ossification centers originating from the epiphyseal plate or some remnant of it
chondroblastoma is a rare benign locally aggressive bone tumor that typically affects the epiphyses or apophyses of long bones it is thought to arise from an outgrowth of immature cartilage cells chondroblasts from secondary ossification centers originating from the epiphyseal plate or some remnant of it chondroblastoma is very uncommon accounting for only 1 2 of all bone tumors it affects mostly children and young adults with most patients being in the second decade of life or less than 20 years of age chondroblastoma shows a predilection towards the male sex with a ratio of male to female patients of 2 1 the most commonly affected site is the femur followed by the humerus and tibia less commonly affected sites include the talus and calcaneus of the foot and flat bones
bone tumor
a bone tumor also spelled bone tumour is a neoplastic growth of tissue in bone abnormal growths found in the bone can be either benign noncancerous or malignant cancerous average five year survival in the united states after being diagnosed with bone and joint cancer is 67
ewing s sarcoma
ewing s sarcoma or ewing sarcoma ˈjuːɪŋ is a malignant small round blue cell tumor it is a rare disease in which cancer cells are found in the bone or in soft tissue the most common areas in which it occurs are the pelvis the femur the humerus the ribs and clavicle collar bone ewing s sarcoma occurs most frequently in teenagers and young adults with a male female ratio of 1 6 1 although usually classified as a bone tumour ewing s sarcoma can have characteristics of both mesodermal and ectodermal origin making it difficult to classify
ewing s sarcoma or ewing sarcoma ˈjuːɪŋ is a malignant small round blue cell tumor it is a rare disease in which cancer cells are found in the bone or in soft tissue the most common areas in which it occurs are the pelvis the femur the humerus the ribs and clavicle collar bone since a common genetic locus is responsible for a large percentage of ewing s sarcoma and primitive neuroectodermal tumors these are sometimes grouped together in a category known as the ewing family of tumors the diseases are however considered to be different peripheral primitive neuroectodermal tumours are generally not associated with bones while ewing sarcomas are most commonly related to bone ewing s sarcoma occurs most frequently in teenagers and young adults with a male female ratio of 1 6 1 although usually classified as a bone tumour ewing s sarcoma can have characteristics of both mesodermal and ectodermal origin making it difficult to classify james ewing 1866 – 1943 first described the tumour establishing that the disease was separate from lymphoma and other types of cancer known at that time
melanoma
melanoma also known as malignant melanoma is a type of cancer that develops from the pigment containing cells known as melanocytes melanomas typically occur in the skin but may rarely occur in the mouth intestines or eye in women they most commonly occur on the legs while in men they are most common on the back sometimes they develop from a mole with concerning changes including an increase in size irregular edges change in color itchiness or skin breakdown
melanoma also known as malignant melanoma is a type of cancer that develops from the pigment containing cells known as melanocytes melanomas typically occur in the skin but may rarely occur in the mouth intestines or eye in women they most commonly occur on the legs while in men they are most common on the back sometimes they develop from a mole with concerning changes including an increase in size irregular edges change in color itchiness or skin breakdown the primary cause of melanoma is ultraviolet light uv exposure in those with low levels of skin pigment the uv light may be from either the sun or from other sources such as tanning devices about 25 develop from moles those with many moles a history of affected family members and who have poor immune function are at greater risk a number of rare genetic defects such as xeroderma pigmentosum also increase risk diagnosis is by biopsy of any concerning skin lesion avoiding uv light and the use of sunscreen may prevent melanoma treatment is typically removal by surgery in those with slightly larger cancers nearby lymph nodes may be tested for spread most people are cured if spread has not occurred for those in whom melanoma has spread immunotherapy biologic therapy radiation therapy or chemotherapy may improve survival with treatment the five year survival rates in the united states is 98 among those with localized disease and 17 among those in whom spread has occurred the likelihood that it will come back or spread depends how thick the melanoma is how fast the cells are dividing and whether or not the overlying skin has broken down melanoma is the most dangerous type of skin cancer globally in 2012 it occurred in 232 000 people and resulted in 55 000 deaths australia and new zealand have the highest rates of melanoma in the world there are also high rates in europe and north america while it is less common in asia africa and latin america melanoma is more common in men than women melanoma has become more common since the 1960 s in areas that are mostly caucasian
skin cancer
skin cancers are cancers that arise from the skin they are due to the development of abnormal cells that have the ability to invade or spread to other parts of the body there are three main types basal cell skin cancer bcc squamous cell skin cancer scc and melanoma the first two together along with a number of less common skin cancers are known as nonmelanoma skin cancer nmsc basal cell cancer grows slowly and can damage the tissue around it but is unlikely to spread to distant areas or result in death it often appears as a painless raised area of skin that may be shiny with small blood vessel running over it or may present as a raised area with an ulcer squamous cell cancer is more likely to spread it usually presents as a hard lump with a scaly top but may also form an ul
squamous cell carcinoma
squamous cell carcinoma or squamous cell cancer scc or sqcc is a cancer of a kind of epithelial cell the squamous cell these cells are the main part of the epidermis of the skin and this cancer is one of the major forms of skin cancer however squamous cells also occur in the lining of the digestive tract lungs and other areas of the body and scc occurs as a form of cancer in diverse tissues including the lips mouth esophagus urinary bladder prostate lung vagina and cervix among others despite sharing the name squamous cell carcinoma the sccs of different body sites can show tremendous differences in their presenting symptoms natural history prognosis and response to treatment
basal cell carcinoma
malignant pilomatricoma
merkel cell carcinoma
merkel cell carcinoma mcc is a rare and highly aggressive skin cancer which in most cases is caused by the merkel cell polyomavirus mcv discovered by scientists at the university of pittsburgh in 2008 it is also known as cutaneous apudoma primary neuroendocrine carcinoma of the skin primary small cell carcinoma of the skin and trabecular carcinoma of the skin merkel cell carcinoma occurs most often on the sun exposed face head and neck
lentigo maligna
lentigo maligna also known as lentiginous melanoma on sun damaged skin is a melanoma in situ that consists of malignant cells but does not show invasive growth lentigo maligna is not the same as lentigo maligna melanoma and should be discussed separately it typically progresses very slowly and can remain in a non invasive form for years the transition to true melanoma is marked by the appearance of a bumpy surface itself a marker of vertical growth and invasion at which point it is called lentigo maligna melanoma it is normally found in the elderly peak incidence in the 9 th decade on skin areas with high levels of sun exposure like the face and forearms some authors do not consider lentigo maligna to be a melanoma it is commonly thought of as a melanoma precursor incidenc
marjolin s ulcer
marjolin s ulcer refers to an aggressive ulcerating squamous cell carcinoma presenting in an area of previously traumatized chronically inflamed or scarred skin they are commonly present in the context of chronic wounds including burn injuries varicose veins venous ulcers ulcers from osteomyelitis and post radiotherapy scars the term was named after french surgeon jean nicolas marjolin who first described the condition in 1828 the term was later coined by j c de costa
mesothelioma
mesothelioma is a type of cancer that develops from the thin layer of tissue that covers many of the internal organs known as the mesothelium the most common area affected is the lining of the lungs and chest wall less commonly the lining of the abdomen and rarely the sac surrounding the heart or the sac surrounding the testis may be affected signs and symptoms of mesothelioma may include shortness of breath due to fluid around the lung a swollen abdomen chest wall pain cough feeling tired and weight loss these symptoms typically come on slowly
kaposi s sarcoma
kaposi sarcoma ˈkæpəʃi sɑːrˈkoʊmə ks is a tumor caused by infection with human herpesvirus 8 hhv 8 also known as kaposi sarcoma associated herpesvirus kshv or ks agent it was originally described by moritz kaposi a hungarian dermatologist practicing at the university of vienna in 1872 it became more widely known as one of the aids defining illnesses in the 1980 s the viral cause for this cancer was discovered in 1994 although ks is now well established to be caused by a viral infection there is widespread lack of awareness of this even among persons at risk for kshv hhv 8 infection
kaposi sarcoma ˈkæpəʃi sɑːrˈkoʊmə ks is a tumor caused by infection with human herpesvirus 8 hhv 8 also known as kaposi sarcoma associated herpesvirus kshv or ks agent it was originally described by moritz kaposi a hungarian dermatologist practicing at the university of vienna in 1872 it became more widely known as one of the aids defining illnesses in the 1980 s the viral cause for this cancer was discovered in 1994 although ks is now well established to be caused by a viral infection there is widespread lack of awareness of this even among persons at risk for kshv hhv 8 infection kaposi sarcoma ks is a systemic disease that can present with cutaneous lesions with or without internal involvement four subtypes have been described classic ks affecting middle aged men of mediterranean descent african endemic ks ks in iatrogenically immunosuppressed patients and aids related ks the erythematous to violaceous cutaneous lesions seen in ks have several morphologies macular patch plaque nodular and exophytic the cutaneous lesions can be solitary localized or disseminated ks can involve the oral cavity lymph nodes and viscera classic ks tends to be indolent presenting with erythematous or violaceous patches on the lower extremities african endemic ks and aids related ks tend to be more aggressive the aids related ks lesions often rapidly progress to plaques and nodules affecting the upper trunk face and oral mucosa the diagnosis can be made with a tissue biopsy and if clinically indicated internal imaging should be done once the diagnosis of ks has been made treatment is based on the subtype and the presence of localized versus systemic disease localized cutaneous disease can be treated with cryotherapy intralesional injections of vinblastine alitretinoin gel radiotherapy topical immunotherapy imiquimod or surgical excision extensive cutaneous disease and or internal disease may require intravenous chemotherapy and immunotherapy discontinuation or reduction of immunosuppressive therapy is recommended when ks arises in the setting of iatrogenic immunosuppression however with aids related ks highly active antiretroviral therapy haart has been shown to prevent or induce regression of ks some aids patients have complete resolution of the lesions and prolonged remission while continuing the therapy therefore haart should be considered first line treatment for these patients though they may require other treatments at the same time
pleomorphic undifferentiated sarcoma
dermatofibrosarcoma protuberans
dermatofibrosarcoma protuberans dfsp is a very rare tumor it is a rare neoplasm of the dermis layer of the skin and is classified as a sarcoma there is only about one case per million per year dfsp is a fibrosarcoma more precisely a cutaneous soft tissue sarcoma in many respects the disease behaves as a benign tumor but in 2 – 5 of cases it can metastasize so it should be considered to have malignant potential it occurs most often in adults in their thirties it has been described congenitally in children and the elderly it accounts for approximately 2 – 6 of soft tissue sarcoma cancers
fibrosarcoma
leiomyosarcoma
leiomyosarcoma gr smooth muscle connective tissue tumor also referred to as lms is a malignant cancerous smooth muscle tumor it must not be confused with leiomyoma which is a benign tumor originating from the same tissue it is also important to note that leiomyosarcomas do not arise from leiomyomas
rhabdomyosarcoma
rhabdomyosarcoma or rms is an aggressive and highly malignant form of cancer that develops from skeletal striated muscle cells that have failed to fully differentiate it is generally considered to be a disease of childhood as the vast majority of cases occur in those below the age of 18 it is commonly described as one of the small round blue cell tumours of childhood due to its appearance on an h e stain despite being a relatively rare cancer it accounts for approximately 40 of all recorded soft tissue sarcomas rms can occur in any site on the body but is primarily found in the head neck orbit genitourinary tract genitals and extremities there are no clear risk factors for rms but the disease has been associated with some congenital abnormalities signs and symptoms
rhabdomyosarcoma or rms is an aggressive and highly malignant form of cancer that develops from skeletal striated muscle cells that have failed to fully differentiate it is generally considered to be a disease of childhood as the vast majority of cases occur in those below the age of 18 it is commonly described as one of the small round blue cell tumours of childhood due to its appearance on an h e stain despite being a relatively rare cancer it accounts for approximately 40 of all recorded soft tissue sarcomas rms can occur in any site on the body but is primarily found in the head neck orbit genitourinary tract genitals and extremities there are no clear risk factors for rms but the disease has been associated with some congenital abnormalities signs and symptoms vary according to tumor site and prognosis is closely tied to the location of the primary tumor common site of metastasis include the lungs bone marrow and bones there are many classification systems for rms and a variety of defined histological types embryonal rhabdomyosarcoma is the most common type and comprises about 60 of cases patient outcomes vary considerably with 5 years survival rates between 35 and 95 depending on the type of rms involved so clear diagnosis is critical for effective treatment and management unfortunately accurate and quick diagnosis is often difficult due to the heterogeneity of rms tumors and a lack of strong genetic markers of the disease treatment usually involves a combination of surgery chemotherapy and radiation sixty percent to 70 of newly diagnosed patients with nonmetastatic disease can be cured using this combined approach to therapy despite aggressive multimodality treatment less than 20 of patients with metastatic rms are able to be cured of their disease
paget s disease of the breast
breast cancer
breast cancer is cancer that develops from breast tissue signs of breast cancer may include a lump in the breast a change in breast shape dimpling of the skin fluid coming from the nipple or a red scaly patch of skin in those with distant spread of the disease there may be bone pain swollen lymph nodes shortness of breath or yellow skin
breast cancer is cancer that develops from breast tissue signs of breast cancer may include a lump in the breast a change in breast shape dimpling of the skin fluid coming from the nipple or a red scaly patch of skin in those with distant spread of the disease there may be bone pain swollen lymph nodes shortness of breath or yellow skin risk factors for developing breast cancer include being female obesity lack of physical exercise drinking alcohol hormone replacement therapy during menopause ionizing radiation early age at first menstruation having children late or not at all older age and family history about 5 – 10 of cases are due to genes inherited from a person s parents including brca 1 and brca 2 among others breast cancer most commonly develops in cells from the lining of milk ducts and the lobules that supply the ducts with milk cancers developing from the ducts are known as ductal carcinomas while those developing from lobules are known as lobular carcinomas in addition there are more than 18 other sub types of breast cancer some cancers such as ductal carcinoma in situ develop from pre invasive lesions the diagnosis of breast cancer is confirmed by taking a biopsy of the concerning lump once the diagnosis is made further tests are done to determine if the cancer has spread beyond the breast and which treatments it may respond to the balance of benefits versus harms of breast cancer screening is controversial a 2013 cochrane review stated that it is unclear if mammographic screening does more good or harm a 2009 review for the us preventive services task force found evidence of benefit in those 40 to 70 years of age and the organization recommends screening every two years in women 50 to 74 years old the medications tamoxifen or raloxifene may be used in an effort to prevent breast cancer in those who are at high risk of developing it surgical removal of both breasts is another preventative measure in some high risk women in those who have been diagnosed with cancer a number of treatments may be used including surgery radiation therapy chemotherapy hormonal therapy and targeted therapy types of surgery vary from breast conserving surgery to mastectomy breast reconstruction may take place at the time of surgery or at a later date in those in whom the cancer has spread to other parts of the body treatments are mostly aimed at improving quality of life and comfort outcomes for breast cancer vary depending on the cancer type extent of disease and person s age survival rates in the developed world are high with between 80 and 90 of those in england and the united states alive for at least 5 years in developing countries survival rates are poorer worldwide breast cancer is the leading type of cancer in women accounting for 25 of all cases in 2012 it resulted in 1 68 million cases and 522 000 deaths it is more common in developed countries and is more than 100 times more common in women than in men
phyllodes tumor
vaginal cancer
cervical cancer
cervical cancer is a cancer arising from the cervix it is due to the abnormal growth of cells that have the ability to invade or spread to other parts of the body early on typically no symptoms are seen later symptoms may include abnormal vaginal bleeding pelvic pain or pain during sexual intercourse while bleeding after sex may not be serious it may also indicate the presence of cervical cancer
cervical cancer is a cancer arising from the cervix it is due to the abnormal growth of cells that have the ability to invade or spread to other parts of the body early on typically no symptoms are seen later symptoms may include abnormal vaginal bleeding pelvic pain or pain during sexual intercourse while bleeding after sex may not be serious it may also indicate the presence of cervical cancer human papillomavirus hpv infection appears to be involved in the development of more than 90 of cases most people who have had hpv infections however do not develop cervical cancer other risk factors include smoking a weak immune system birth control pills starting sex at a young age and having many sexual partners but these are less important cervical cancer typically develops from precancerous changes over 10 to 20 years about 90 of cervical cancer cases are squamous cell carcinomas 10 are adenocarcinoma and a small number are other types diagnosis is typically by cervical screening followed by a biopsy medical imaging is then done to determine whether or not the cancer has spread hpv vaccines protect against between two and seven high risk strains of this family of viruses and may prevent up to 90 of cervical cancers as a risk of cancer still exists guidelines recommend continuing regular pap smears other methods of prevention include having few or no sexual partners and the use of condoms cervical cancer screening using the pap smear or acetic acid can identify precancerous changes which when treated can prevent the development of cancer treatment of cervical cancer may consist of some combination of surgery chemotherapy and radiotherapy five year survival rates in the united states are 68 outcomes however depend very much on how early the cancer is detected worldwide cervical cancer is both the fourth most common cause of cancer and the fourth most common cause of death from cancer in women in 2012 an estimated 528 000 cases of cervical cancer occurred with 266 000 deaths this is about 8 of the total cases and total deaths from cancer about 70 of cervical cancers occur in developing countries in low income countries it is the most common cause of cancer death in developed countries the widespread use of cervical screening programs has dramatically reduced rates of cervical cancer in medical research the most famous cell line known as hela was developed from cervical cancer cells of a woman named henrietta lacks
endometrial cancer
endometrial cancer is a cancer that arises from the endometrium the lining of the uterus or womb it is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body the first sign is most often vaginal bleeding not associated with a menstrual period other symptoms include pain with urination or sexual intercourse or pelvic pain endometrial cancer occurs most commonly after menopause
ovarian cancer
ovarian cancer is a cancer that forms in an ovary it results in abnormal cells that have the ability to invade or spread to other parts of the body when this process begins there may be no or only vague symptoms symptoms become more noticeable as the cancer progresses these symptoms may include bloating pelvic pain abdominal swelling and loss of appetite among others common areas to which the cancer may spread include the lining of the abdomen lining of the bowel and bladder lymph nodes lungs and liver
krukenberg tumor
granulosa cell tumour
granulosa cell tumours or granulosa theca cell tumours are tumours that arise from granulosa cells these tumours are part of the sex cord gonadal stromal tumour or non epithelial group of tumours although granulosa cells normally occur only in the ovary granulosa cell tumours occur in both ovaries and testicles see ovarian cancer and testicular cancer these tumours should be considered malignant and treated in the same way as other malignant tumours of ovary the ovarian disease has two forms juvenile and adult both characterized by indolent growth and therefore has high recovery rates the staging system for these tumours is the same as for epithelial tumours and most present as stage i the peak age at which they occur is 50 – 55 years but they may occur at any age
germ cell tumor
a germ cell tumor gct is a neoplasm derived from germ cells germ cell tumors can be cancerous or non cancerous tumors germ cells normally occur inside the gonads ovary and testis germ cell tumors that originate outside the gonads may be birth defects resulting from errors during development of the embryo
choriocarcinoma
choriocarcinoma is a malignant trophoblastic cancer usually of the placenta it is characterized by early hematogenous spread to the lungs it belongs to the malignant end of the spectrum in gestational trophoblastic disease gtd it is also classified as a germ cell tumor and may arise in the testis or ovary
penile cancer
penile cancer is a malignant growth found on the skin or in the tissues of the penis around 95 of penile cancers are squamous cell carcinomas other types of penile cancer such as merkel cell carcinoma small cell carcinoma melanoma and other are generally rare
prostate cancer
prostate cancer also known as carcinoma of the prostate is the development of cancer in the prostate a gland in the male reproductive system most prostate cancers are slow growing however some grow relatively quickly the cancer cells may spread from the prostate to other parts of the body particularly the bones and lymph nodes it may initially cause no symptoms in later stages it can lead to difficulty urinating blood in the urine or pain in the pelvis back or when urinating a disease known as benign prostatic hyperplasia may produce similar symptoms other late symptoms may include feeling tired due to low levels of red blood cells
prostate cancer also known as carcinoma of the prostate is the development of cancer in the prostate a gland in the male reproductive system most prostate cancers are slow growing however some grow relatively quickly the cancer cells may spread from the prostate to other parts of the body particularly the bones and lymph nodes it may initially cause no symptoms in later stages it can lead to difficulty urinating blood in the urine or pain in the pelvis back or when urinating a disease known as benign prostatic hyperplasia may produce similar symptoms other late symptoms may include feeling tired due to low levels of red blood cells factors that increase the risk of prostate cancer include older age a family history of the disease and race about 99 of cases occur in those over the age of 50 having a first degree relative with the disease increases the risk two to threefold in the united states it is more common in the african american population than the white american population other factors that may be involved include a diet high in processed meat red meat or milk products or low in certain vegetables an association with gonorrhea has been found but a reason for this relationship has not been identified prostate cancer is diagnosed by biopsy medical imaging may then be done to determine if the cancer has spread to other parts of the body prostate cancer screening is controversial prostate specific antigen psa testing increases cancer detection but does not decrease mortality the united states preventive services task force recommends against screening using the psa test due to the risk of overdiagnosis and overtreatment as most cancer diagnosed would remain asymptomatic the uspstf concludes that the potential benefits of testing do not outweigh the expected harms while 5 α reductase inhibitors appear to decrease low grade cancer risk they do not affect high grade cancer risk and thus are not recommended for prevention supplementation with vitamins or minerals does not appear to affect the risk many cases can be safely followed with active surveillance or watchful waiting other treatments may include a combination of surgery radiation therapy hormone therapy or chemotherapy when it only occurs inside the prostate it may be curable in those in whom the disease has spread to the bones pain medications bisphosphonates and targeted therapy among others may be useful outcomes depend on a person s age and other health problems as well as how aggressive and extensive the cancer is most people with prostate cancer do not end up dying from the disease the 5 year survival rate in the united states is 99 globally it is the second most common type of cancer and the fifth leading cause of cancer related death in men in 2012 it occurred in 1 1 million men and caused 307 000 deaths it was the most common cancer in males in 84 countries occurring more commonly in the developed world rates have been increasing in the developing world detection increased significantly in the 1980 s and 1990 s in many areas due to increased psa testing studies of males who died from unrelated causes have found prostate cancer in 30 to 70 of those over age 60
testicular cancer
testicular cancer is cancer that develops in the testicles a part of the male reproductive system not all lumps on the testicles are tumors and not all tumors are cancer there are many other conditions such as testicular microlithiasis epididymal cysts and appendix testis hydatid of morgagni which may be painful but are non cancerous testicular cancer cryptorchidism hypospadias and poor semen quality make up the syndrome known as testicular dysgenesis syndrome
seminoma
seminoma also known as pure seminoma or classical seminoma is a germ cell tumor of the testicle or more rarely the mediastinum or other extra gonadal locations it is a malignant neoplasm and is one of the most treatable and curable cancers with a survival rate above 95 if discovered in early stages testicular seminoma originates in the germinal epithelium of the seminiferous tubules about half of germ cell tumors of the testicles are seminomas treatment usually requires removal of one testicle however fertility usually isn t affected all other sexual functions will remain intact
teratoma
a teratoma is a tumor with tissue or organ components resembling normal derivatives of more than one germ layer although the teratoma may be monodermal or polydermal originating from one or more germ layers its cells may differentiate in ways suggesting other germ layers the tissues of a teratoma although normal in themselves may be quite different from surrounding tissues and may be highly disparate teratomas have been reported to contain hair teeth bone and very rarely more complex organs or processes such as eyes torso and hands feet or other limbs
a teratoma is a tumor with tissue or organ components resembling normal derivatives of more than one germ layer although the teratoma may be monodermal or polydermal originating from one or more germ layers its cells may differentiate in ways suggesting other germ layers the tissues of a teratoma although normal in themselves may be quite different from surrounding tissues and may be highly disparate teratomas have been reported to contain hair teeth bone and very rarely more complex organs or processes such as eyes torso and hands feet or other limbs usually a teratoma will contain no organs but rather one or more tissues normally found in organs such as the brain thyroid liver and lung sometimes the teratoma has within its capsule one or more fluid filled cysts when a large cyst occurs there is a potential for the teratoma to produce a structure within the cyst that resembles a fetus because they are encapsulated teratomas are usually benign although several forms of malignant teratoma are known and some of these are common forms of teratoma a mature teratoma is typically benign and found more commonly in women while an immature teratoma is typically malignant and is more often found in men teratomas are thought to be present at birth congenital but small ones often remain undiscovered until much later in life definitive medical diagnosis of a teratoma is based on its histology
wilms tumor
wilms tumor also known as nephroblastoma is a cancer of the kidneys that typically occurs in children rarely in adults it is named after dr max wilms the german surgeon 1867 – 1918 who first described it approximately 500 cases are diagnosed in the u s annually the majority 75 occur in otherwise normal children a minority 25 are associated with other developmental abnormalities it is highly responsive to treatment with about 90 of patients surviving at least five years
renal cell carcinoma
renal cell carcinoma rcc is a kidney cancer that originates in the lining of the proximal convoluted tubule a part of the very small tubes in the kidney that transport waste molecules from the blood to the urine rcc is the most common type of kidney cancer in adults responsible for approximately 90 – 95 of cases
renal cell carcinoma rcc is a kidney cancer that originates in the lining of the proximal convoluted tubule a part of the very small tubes in the kidney that transport waste molecules from the blood to the urine rcc is the most common type of kidney cancer in adults responsible for approximately 90 – 95 of cases initial treatment is most commonly either partial or complete removal of the affected kidney s where the cancer has not metastasised spread to other organs or burrowed deeper into the tissues of the kidney the 5 year survival rate is 65 – 90 but this is lowered considerably when the cancer has spread the body is remarkably good at hiding the symptoms and as a result people with rcc often have advanced disease by the time it is discovered the initial symptoms of rcc often include blood in the urine occurring in 40 of affected persons at the time they first seek medical attention flank pain 40 a mass in the abdomen or flank 25 weight loss 33 fever 20 high blood pressure 20 night sweats and generally feeling unwell when rcc metastasises it most commonly spreads to the lymph nodes lungs liver adrenal glands brain or bones immunotherapy and targeted therapy have improved the outlook for metastatic rcc rcc is also associated with a number of paraneoplastic syndromes pns which are conditions caused by either the hormones produced by the tumour or by the body s attack on the tumour and are present in about 20 of those with rcc these syndromes most commonly affect tissues which have not been invaded by the cancer the most common pnss seen in people with rcc are high blood calcium levels polycythaemia the opposite of anaemia due to an overproduction of erythropoietin thrombocytosis too many platelets in the blood leading to an increased tendency for blood clotting and bleeds and secondary amyloidosis
bladder cancer
bladder cancer is any of several types of cancer arising from the epithelial lining i e the urothelium of the urinary bladder rarely the bladder is involved by non epithelial cancers such as lymphoma or sarcoma but these are not ordinarily included in the colloquial term bladder cancer it is a disease in which abnormal cells multiply without control in the bladder bladder cancer is the 9 th leading cause of cancer with 430 000 new cases and 165 000 deaths occurring in 2012
uveal melanoma
retinoblastoma
meningioma
meningiomas are a diverse set of tumors arising from the meninges the membranous layers surrounding the central nervous system many meningiomas produce no symptoms throughout a person s life and if discovered require no treatment other than periodic observation typically symptomatic meningiomas are treated with either radiosurgery or conventional surgery
atypical teratoid rhabdoid tumor
atypical teratoid rhabdoid tumor at rt is a rare tumor usually diagnosed in childhood although usually a brain tumor at rt can occur anywhere in the central nervous system cns including the spinal cord about 60 will be in the posterior cranial fossa particularly the cerebellum one review estimated 52 posterior fossa 39 spnet supratentorial primitive neuroectodermal tumors 5 pineal 2 spinal and 2 multi focal current research is focusing on using chemotherapy protocols that are effective against rhabdomyosarcoma in combination with surgery and radiation therapy
glioma
a glioma is a type of tumor that starts in the brain or spine it is called a glioma because it arises from glial cells the most common site of gliomas is the brain gliomas make up about 30 of all brain and central nervous system tumors and 80 of all malignant brain tumors
pilocytic astrocytoma
pilocytic astrocytoma or juvenile pilocytic astrocytoma or cystic cerebellar astrocytoma and its variant juvenile pilomyxoid astrocytoma is a brain tumor that occurs more often in children and young adults in the first 20 years of life they usually arise in the cerebellum near the brainstem in the hypothalamic region or the optic chiasm but they may occur in any area where astrocytes are present including the cerebral hemispheres and the spinal cord these tumors are usually slow growing and benign the neoplasms are associated with the formation of a single or multiple cyst s and can become very large
astrocytoma
astrocytomas are a type of cancer of the brain they originate in a particular kind of glial cells star shaped brain cells in the cerebrum called astrocytes this type of tumor does not usually spread outside the brain and spinal cord and it does not usually affect other organs astrocytomas are the most common glioma and can occur in most parts of the brain and occasionally in the spinal cord within the astrocytomas there are two broad classes recognized in literature those with
ependymoma
ependymoma is a tumor that arises from the ependyma a tissue of the central nervous system usually in pediatric cases the location is intracranial while in adults it is spinal the common location of intracranial ependymoma is the fourth ventricle rarely ependymoma can occur in the pelvic cavity syringomyelia can be caused by an ependymoma ependymomas are also seen with neurofibromatosis type ii
glioblastoma multiforme
glioblastoma multiforme gbm also known as glioblastoma and grade iv astrocytoma is the most common and most aggressive cancer that begins within the brain signs and symptoms are initially non specific they may include headaches personality changes nausea and symptoms similar to those of a stroke worsening of symptoms is often rapid this can progress to unconsciousness
glioblastoma multiforme gbm also known as glioblastoma and grade iv astrocytoma is the most common and most aggressive cancer that begins within the brain signs and symptoms are initially non specific they may include headaches personality changes nausea and symptoms similar to those of a stroke worsening of symptoms is often rapid this can progress to unconsciousness the cause of most cases is unclear uncommon risk factors include genetic disorders such as neurofibromatosis and li fraumeni syndrome and previous radiation therapy glioblastomas represent 15 of brain tumors they can either start from normal brain cells or develop from an already existing low grade astrocytoma the diagnosis is typically made by a combination of ct scan mri scan and tissue biopsy there is no clear way to prevent the disease typically treatment involves surgery after which chemotherapy and radiation therapy are used the medication temozolomide is frequently used as part of chemotherapy high dose steroids may be used to help reduce swelling and decrease symptoms it is unclear whether trying to remove all or simply most of the cancer is better despite maximum treatment the cancer usually recurs the most common length of survival following diagnosis is 12 to 15 months with less than 3 to 5 of people surviving longer than five years without treatment survival is typically 3 months about 3 per 100 000 people develop the disease a year it most often begins around 64 years of age and occurs more commonly in males than females immunotherapy is being studied in glioblastoma with promising results
oligodendroglioma
oligodendrogliomas are a type of glioma that are believed to originate from the oligodendrocytes of the brain or from a glial precursor cell they occur primarily in adults 9 4 of all primary brain and central nervous system tumors but are also found in children 4 of all primary brain tumors the average age at diagnosis is 35 years
choroid plexus papilloma
choroid plexus papilloma also known as papilloma of choroid plexus is a rare benign neuroepithelial intraventricular who grade i lesion found in the choroid plexus it leads to increased cerebrospinal fluid production thus causing increased intracranial pressure and hydrocephalus
choroid plexus papilloma also known as papilloma of choroid plexus is a rare benign neuroepithelial intraventricular who grade i lesion found in the choroid plexus it leads to increased cerebrospinal fluid production thus causing increased intracranial pressure and hydrocephalus choroid plexus papilloma occurs in the lateral ventricles of children and in the fourth ventricle of adults this is unlike most other pediatric tumors and adult tumors in which the locations of the tumors is reversed in children brain tumors are usually found in the infratentorial region and in adults brain tumors are usually found in the supratentorial space the relationship is reversed for choroid plexus papillomas
schwannoma
a schwannoma also known as an neurilemoma neuroma neurolemoma and schwann cell tumor is a benign nerve sheath tumor composed of schwann cells which normally produce the insulating myelin sheath covering peripheral nerves schwannomas can be associated with neurofibromatosis type ii which may be due to a loss of function mutation in the protein merlin they are universally s 100 positive which is a marker for cells of neural crest cell origin verocay bodies are seen histologically in schwannomas
a schwannoma also known as an neurilemoma neuroma neurolemoma and schwann cell tumor is a benign nerve sheath tumor composed of schwann cells which normally produce the insulating myelin sheath covering peripheral nerves schwannomas are homogeneous tumors consisting only of schwann cells the tumor cells always stay on the outside of the nerve but the tumor itself may either push the nerve aside and or up against a bony structure thereby possibly causing damage schwannomas are relatively slow growing for reasons not yet understood schwannomas are mostly benign and less than 1 become malignant degenerating into a form of cancer known as neurofibrosarcoma these masses are generally contained within a capsule and so surgical removal is often successful schwannomas can be associated with neurofibromatosis type ii which may be due to a loss of function mutation in the protein merlin they are universally s 100 positive which is a marker for cells of neural crest cell origin schwannomas of the head and neck are a fairly common occurrence and can be found incidentally in 3 4 of patients at autopsy most common of these is a vestibular schwannoma a tumor of the vestibulocochlear nerve that may lead to tinnitus and hearing loss on the affected side outside the cranial nerves schwannomas may present on the flexor surfaces of the limbs rare occurrences of these tumors in the penis have been documented in the literature verocay bodies are seen histologically in schwannomas
thyroid cancer
thyroid cancer is a cancer originating from follicular or parafollicular thyroid cells these cells give rise to both well differentiated cancers — papillary thyroid cancer ptc and follicular thyroid cancer ftc — and anaplastic thyroid cancer atc whose anaplastic cells are poorly differentiated the second cell type the c or parafollicular cell produces the hormone calcitonin and is the cell of origin for medullary thyroid cancer mtc
adrenocortical carcinoma
adrenocortical carcinoma also adrenal cortical carcinoma acc and adrenal cortex cancer is an aggressive cancer originating in the cortex steroid hormone producing tissue of the adrenal gland adrenocortical carcinoma is a rare tumor with incidence of 1 – 2 per million population annually adrenocortical carcinoma has a bimodal distribution by age with cases clustering in children under 5 and in adults 30 – 40 years old adrenocortical carcinoma is remarkable for the many hormonal syndromes which can occur in patients with steroid hormone producing functional tumors including cushing s syndrome conn syndrome virilization and feminization adrenocortical carcinoma has often invaded nearby tissues or metastasized to distant organs at the time of diagnosis and the overall 5 year
neuroblastoma
neuroblastoma nb is the most common extracranial solid cancer in childhood and the most common cancer in infancy with an incidence of about 650 cases per year in the u s and 100 cases per year in the uk nearly half of neuroblastoma cases occur in children younger than two years it is a neuroendocrine tumor arising from any neural crest element of the sympathetic nervous system sns it most frequently originates in one of the adrenal glands but can also develop in nerve tissues in the neck chest abdomen or pelvis
carcinoid
carcinoid also carcinoid tumor is a slow growing type of neuroendocrine tumor originating in the cells of the neuroendocrine system in some cases metastasis may occur carcinoid tumors of the midgut jejunum ileum appendix and cecum are associated with carcinoid syndrome
pinealoblastoma
pineoblastoma also pinealoblastoma is a malignant tumor of the pineal gland a pineoblastoma is a supratentorial midline primitive neuroectodermal tumor pineoblastoma may occur in patients with hereditary uni or bilateral retinoblastoma when retinoblastoma patients present with pineoblastoma this is characterized as trilateral retinoblastoma up to 5 of patients with hereditary retinoblastoma are at risk of developing trilateral retinoblastoma prognosis of patients with trilateral retinoblastoma is dismal only a few patients have survived more than 5 years after diagnosis all survivors were diagnosed with small tumors in a subclinical stage recent advances in high dose chemotherapy treatment regimens and early detection have improved survival of patients with trilateral retin
pineoblastoma also pinealoblastoma is a malignant tumor of the pineal gland a pineoblastoma is a supratentorial midline primitive neuroectodermal tumor pineoblastoma may occur in patients with hereditary uni or bilateral retinoblastoma when retinoblastoma patients present with pineoblastoma this is characterized as trilateral retinoblastoma up to 5 of patients with hereditary retinoblastoma are at risk of developing trilateral retinoblastoma prognosis of patients with trilateral retinoblastoma is dismal only a few patients have survived more than 5 years after diagnosis all survivors were diagnosed with small tumors in a subclinical stage recent advances in high dose chemotherapy treatment regimens and early detection have improved survival of patients with trilateral retinoblastoma to up to 50
paraganglioma
a paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites including the head neck thorax and abdomen about 97 are benign and cured by surgical removal the remaining 3 are malignant because they are able to produce distant metastases paraganglioma is now the most widely accepted term for these lesions that have been also described as glomus tumor chemodectoma perithelioma fibroangioma and sympathetic nevi
pseudomyxoma peritonei
pseudomyxoma peritonei pmp is a clinical condition caused by cancerous cells mucinous adenocarcinoma that produce abundant mucin or gelatinous ascites the tumors cause fibrosis of tissues and impede digestion or organ function and if left untreated the tumors and mucin they produce will fill the abdominal cavity this will result in compression of organs and will destroy the function of colon small intestine stomach or other organs prognosis with treatment in many cases is optimistic but the disease is lethal if untreated with death by cachexia bowel obstruction or other types of complications
pseudomyxoma peritonei pmp is a clinical condition caused by cancerous cells mucinous adenocarcinoma that produce abundant mucin or gelatinous ascites the tumors cause fibrosis of tissues and impede digestion or organ function and if left untreated the tumors and mucin they produce will fill the abdominal cavity this will result in compression of organs and will destroy the function of colon small intestine stomach or other organs prognosis with treatment in many cases is optimistic but the disease is lethal if untreated with death by cachexia bowel obstruction or other types of complications this disease is most commonly caused by an appendiceal primary cancer cancer of the appendix mucinous tumors of the ovary have also been implicated although in most cases ovarian involvement is favored to be a metastasis from an appendiceal or other gastrointestinal source disease is typically classified as low or high grade with signet ring cells when disease presents with low grade histologic features the cancer rarely spreads through the lymphatic system or through the bloodstream
cancer of unknown primary origin
cancer of unknown primary origin cup occult cancer is a term used to describe a cancer that is determined to be at the metastatic stage at the time of diagnosis but a primary tumor cannot be identified a diagnosis of cup requires a clinical picture consistent with metastatic disease and one or more biopsy results inconsistent with a primary tumor
hodgkin s lymphoma
hodgkin s lymphoma hl is a type of lymphoma which is generally believed to result from white blood cells of the lymphocyte kind symptoms may include fever night sweats and weight loss often there will be non painful enlarged lymph nodes in the neck under the arm or in the groin those affected may feel tired or be itchy
hodgkin s lymphoma hl is a type of lymphoma which is generally believed to result from white blood cells of the lymphocyte kind symptoms may include fever night sweats and weight loss often there will be non painful enlarged lymph nodes in the neck under the arm or in the groin those affected may feel tired or be itchy about half of cases of hodgkin s lymphoma are due to epstein – barr virus ebv other risk factors include a family history of the condition and having hiv aids there are two major types of hodgkin lymphoma classical hodgkin lymphoma and nodular lymphocyte predominant hodgkin lymphoma diagnosis is by finding hodgkin s cells such as multinucleated reed – sternberg cells rs cells in lymph nodes hodgkin lymphoma may be treated with chemotherapy radiation therapy and stem cell transplant the choice of treatment often depends on how advanced the cancer is and whether or not it has favorable features in early disease a cure is often possible the percentage of people who survive five years in the united states is 86 for those under the age of 20 rates of survival are 97 radiation and some chemotherapy drugs however increase the risk of other cancers heart disease or lung disease over the subsequent decades in 2013 about 725 000 people had hodgkin s lymphoma and 24 000 died in the united states 0 2 of people are affected at some point in their life the most common age of diagnosis is between 20 and 40 years old it was named after the english physician thomas hodgkin who first described the condition in 1832
lymphoma
lymphoma is a group of blood cell tumors that develop from lymphocytes a type of white blood cell the name often refers to just the cancerous ones rather than all such tumors signs and symptoms may include enlarged lymph nodes fever drenching sweats unintended weight loss itching and feeling tired the enlarged lymph nodes are usually painless the sweats are most common at night
follicular lymphoma
follicular lymphoma is a type of blood cancer it is the most common of the indolent slow growing non hodgkin s lymphomas and the second most common form of non hodgkin s lymphomas overall it is defined as a lymphoma of follicle center b cells centrocytes and centroblasts which has at least a partially follicular pattern it is positive for the b cell markers cd 10 cd 19 cd 22 and usually cd 20 but almost always negative for cd 5
non hodgkin lymphoma
non hodgkin lymphoma nhl is a group of blood cancers that includes all types of lymphoma except hodgkin s lymphomas symptoms include enlarged lymph nodes fever night sweats weight loss and feeling tired other symptoms may include bone pain chest pain or itchiness some forms are slow growing while others are fast growing
non hodgkin lymphoma nhl is a group of blood cancers that includes all types of lymphoma except hodgkin s lymphomas symptoms include enlarged lymph nodes fever night sweats weight loss and feeling tired other symptoms may include bone pain chest pain or itchiness some forms are slow growing while others are fast growing lymphomas are types of cancer that develops from lymphocytes a type of white blood cell risk factors include poor immune function autoimmune diseases helicobacter pylori infection hepatitis c obesity and epstein barr virus infection the world health organization who classifies lymphomas into five major groups including one for hodgkin s lymphoma within the four groups for nhl there are over 60 specific types of lymphoma diagnosis is by examination of a bone marrow or lymph node biopsy medical imaging is done to help with cancer staging treatment depends on if the lymphoma is slow or fast growing and if it is in one area or many areas treatments may include chemotherapy radiation immunotherapy targeted therapy stem cell transplantation surgery or watchful waiting if the blood becomes overly thick due to antibodies plasmapheresis may be used radiation and some chemotherapy however increase the risk of other cancers heart disease or nerve problems over the subsequent decades in 2013 about 2 96 million people had non hodgkin lymphoma and 226 000 died in the united states 2 1 of people are affected at some point in their life the most common age of diagnosis is between 65 to 75 years old the percentage of people who survive five years in the united states is 71
adult t cell leukemia lymphoma
adult t cell leukemia lymphoma atl or atll is a rare cancer of the immune system s own t cells human t cell leukemia lymphotropic virus type 1 htlv 1 is believed to be the cause of it in addition to several other diseases
diffuse large b cell lymphoma
diffuse large b cell lymphoma dlbcl or dlbl is a cancer of b cells a type of white blood cell responsible for producing antibodies it is the most common type of non hodgkin lymphoma among adults with an annual incidence of 7 – 8 cases per 100 000 people per year this cancer occurs primarily in older individuals with a median age of diagnosis at approximately 70 years of age though it can also occur in children and young adults in rare cases dlbcl is an aggressive tumor which can arise in virtually any part of the body and the first sign of this illness is typically the observation of a rapidly growing mass sometimes associated with fever weight loss and night sweats
burkitt s lymphoma
mycosis fungoides
sézary disease
anaplastic large cell lymphoma
anaplastic large cell lymphoma alcl is a type of non hodgkin lymphoma involving aberrant t cells it is described in detail in the classification of tumors of the hematopoietic and lymphoid tissues edited by experts of the world health organisation who the term anaplastic large cell lymphoma alcl encompasses at least 4 different clinical entities all sharing the same name and histologically have also in common the presence of large pleomorphic cells that express cd 30 and t cell markers two types of alcl present as systemic disease and are considered as aggressive lymphomas while two types present as localized disease and may progress locally
mantle cell lymphoma
waldenström s macroglobulinemia
waldenström s macroglobulinemia wm also known as lymphoplasmacytic lymphoma is a type of cancer affecting b cells a type of white blood cell the main attributing antibody is immunoglobulin m igm wm is an indolent lymphoma i e one that tends to grow and spread slowly it is a type of lymphoproliferative disease which shares clinical characteristics with the indolent non hodgkin lymphomas
waldenström s macroglobulinemia wm also known as lymphoplasmacytic lymphoma is a type of cancer affecting b cells a type of white blood cell the main attributing antibody is immunoglobulin m igm wm is an indolent lymphoma i e one that tends to grow and spread slowly it is a type of lymphoproliferative disease which shares clinical characteristics with the indolent non hodgkin lymphomas the disease named after the swedish oncologist jan g waldenström was first identified in 1944 as with other lymphomas it is characterized by an uncontrolled increase of b cells white blood cells formed in the bone marrow and lymph nodes the proliferation of b cells interferes with the production of red blood cells resulting in anemia a unique characteristic of the disease is that the b cells produce excess amounts of immunoglobulin thickening the blood and requiring additional treatment wm is a rare disease with only about 1 500 cases per year in the united states while the disease is incurable it is treatable because of its indolent nature many patients are able to lead active lives and when treatment is required may experience years of symptom free remission
malt lymphoma
malt lymphoma maltoma is a form of lymphoma involving the mucosa associated lymphoid tissue malt frequently of the stomach but virtually any mucosal site can be afflicted it is a cancer originating from b cells in the marginal zone of the malt and is also called extranodal marginal zone b cell lymphoma
multiple myeloma
multiple myeloma also known as plasma cell myeloma is a cancer of plasma cells a type of white blood cell normally responsible for producing antibodies initially there are often no symptoms when advanced bone pain bleeding frequent infections and anemia may occur complications may include amyloidosis multiple myeloma is considered treatable but generally incurable remissions may be brought about with steroids chemotherapy thalidomide or lenalidomide and stem cell transplant bisphosphonates and radiation therapy are sometimes used to reduce pain from bone lesions
multiple myeloma also known as plasma cell myeloma is a cancer of plasma cells a type of white blood cell normally responsible for producing antibodies initially there are often no symptoms when advanced bone pain bleeding frequent infections and anemia may occur complications may include amyloidosis the cause is generally unknown risk factors include drinking alcohol and obesity the underlying mechanism involves abnormal plasma cells producing abnormal antibodies which can cause kidney problems and overly thick blood the plasma cells can also form a mass in the bone marrow or soft tissue when there is only one mass it is known as a plasmacytoma and when there is more than one it is known as multiple myeloma multiple myeloma is diagnosed based on blood or urine tests finding abnormal antibodies bone marrow biopsy finding cancerous plasma cells and medical imaging finding bone lesions another common finding is high blood calcium levels multiple myeloma is considered treatable but generally incurable remissions may be brought about with steroids chemotherapy thalidomide or lenalidomide and stem cell transplant bisphosphonates and radiation therapy are sometimes used to reduce pain from bone lesions multiple myeloma affected about 427 000 people in 2013 and resulted in 79 000 deaths in the united states it develops in 6 5 per 100 000 people per year and 0 7 of people are affected at some point in their life it usually occurs around the age of 61 and is more common in men than women without treatment typical survival is seven months with current treatments survival is usually 4 – 5 years this gives a five year survival rate of about 49 the word myeloma is from the greek myelo meaning marrow and oma meaning tumor
leukemia
leukemia also spelled leukaemia is a group of cancers that usually begin in the bone marrow and result in high numbers of abnormal white blood cells these white blood cells are not fully developed and are called blasts or leukemia cells symptoms may include bleeding and bruising problems feeling tired fever and an increased risk of infections these symptoms occur due to a lack of normal blood cells diagnosis is typically made by blood tests or bone marrow biopsy
leukemia also spelled leukaemia is a group of cancers that usually begin in the bone marrow and result in high numbers of abnormal white blood cells these white blood cells are not fully developed and are called blasts or leukemia cells symptoms may include bleeding and bruising problems feeling tired fever and an increased risk of infections these symptoms occur due to a lack of normal blood cells diagnosis is typically made by blood tests or bone marrow biopsy the exact cause of leukemia is unknown different kinds of leukemia are believed to have different causes both inherited and environmental non inherited factors are believed to be involved risk factors include smoking ionizing radiation some chemicals such as benzene prior chemotherapy and down syndrome people with a family history of leukemia are also at higher risk there are four main types of leukemia — acute lymphoblastic leukemia all acute myeloid leukemia aml chronic lymphocytic leukemia cll and chronic myeloid leukemia cml — as well as a number of less common types leukemias and lymphomas both belong to a broader group of tumors that affect the blood bone marrow and lymphoid system known as tumors of the hematopoietic and lymphoid tissues treatment may involve some combination of chemotherapy radiation therapy targeted therapy and bone marrow transplant in addition to supportive care and palliative care as needed certain types of leukemia may be managed with watchful waiting the success of treatment depends on the type of leukemia and the age of the person outcomes have improved in the developed world the average five year survival rate is 57 in the united states in children under 15 the five year survival rate is greater than 60 to 85 depending on the type of leukemia in children with acute leukemia who are cancer free after five years the cancer is unlikely to return in 2012 leukemia developed in 352 000 people globally and caused 265 000 deaths it is the most common type of cancer in children with three quarters of leukemia cases in children being the acute lymphoblastic type however about 90 of all leukemias are diagnosed in adults with aml and cll being most common in adults it occurs more commonly in the developed world
acute lymphoblastic leukemia
acute lymphoblastic leukemia also known as acute lymphocytic leukemia or acute lymphoid leukemia all is an acute form of leukemia or cancer of the white blood cells characterized by the overproduction and accumulation of cancerous immature white blood cells known as lymphoblasts in persons with all lymphoblasts are overproduced in the bone marrow and continuously multiply causing damage and death by inhibiting the production of normal cells such as red and white blood cells and platelets in the bone marrow and by spreading infiltrating to other organs all is most common in childhood with a peak incidence at 2 – 5 years of age and another peak in old age
acute lymphoblastic leukemia also known as acute lymphocytic leukemia or acute lymphoid leukemia all is an acute form of leukemia or cancer of the white blood cells characterized by the overproduction and accumulation of cancerous immature white blood cells known as lymphoblasts in persons with all lymphoblasts are overproduced in the bone marrow and continuously multiply causing damage and death by inhibiting the production of normal cells such as red and white blood cells and platelets in the bone marrow and by spreading infiltrating to other organs all is most common in childhood with a peak incidence at 2 – 5 years of age and another peak in old age the symptoms of all are indicative of a reduced production of functional blood cells because leukemia wastes the resources of the bone marrow that are normally used to produce new functioning blood cells these symptoms can include fever increased risk of infection especially bacterial infections like pneumonia due to neutropenia symptoms of such an infection include shortness of breath chest pain cough vomiting changes in bowel or bladder habits increased tendency to bleed due to thrombocytopenia and signs indicative of anemia including pallor tachycardia high heart rate fatigue and headache about 6 000 cases are reported in the united states every year internationally all is more common in caucasians than in africans it is more common in hispanics and in latin america cure is a realistic goal and is achieved in more than 80 of affected children although only 20 40 of adults are cured acute refers to the relatively short time course of the disease distinguishing it from chronic lymphocytic leukemia which has a potential time course of many years all was one of the first cancers for which an effective chemotherapeutic treatment was developed antifolates like aminopterin and methotrexate were developed in the late 1940 s by sidney farber and yellapragada subbarow at that time a doctor did not need a patient s or parent s consent to try an experimental treatment as the nuremberg code had not yet been signed desperate to save his patients farber initially tried folic acid supplementation as a treatment for all this had disastrous consequences and he likely accelerated the children s deaths
b cell chronic lymphocytic leukemia
b cell chronic lymphocytic leukemia b cll also known as chronic lymphoid leukemia cll is the most common type of leukemia a type of cancer of the white blood cells in adults cll affects b cell lymphocytes which originate in the bone marrow develop in the lymph nodes and normally fight infection by producing antibodies cll is a disease of adults most 75 people newly diagnosed with cll are over the age of 50 and the majority are men however in rare cases it can occur in teenagers and occasionally in children some of these may relate to an inherited predisposition
b cell chronic lymphocytic leukemia b cll also known as chronic lymphoid leukemia cll is the most common type of leukemia a type of cancer of the white blood cells in adults cll affects b cell lymphocytes which originate in the bone marrow develop in the lymph nodes and normally fight infection by producing antibodies in cll b cells grow in an uncontrolled manner and accumulate in the bone marrow and blood where they crowd out healthy blood cells cll is a stage of small lymphocytic lymphoma sll a type of b cell lymphoma which presents primarily in the lymph nodes cll and sll are considered the same underlying disease just with different appearances cll is a disease of adults most 75 people newly diagnosed with cll are over the age of 50 and the majority are men however in rare cases it can occur in teenagers and occasionally in children some of these may relate to an inherited predisposition most people are diagnosed without symptoms as the result of a routine blood test that returns a high white blood cell count but as it advances cll results in swollen lymph nodes spleen and liver and eventually anemia and infections early cll is not treated and late cll is treated with chemotherapy and monoclonal antibodies dna analysis has distinguished two major types of cll with different survival times cll that is positive for the marker zap 70 has an average survival of 8 years while cll negative for zap 70 has an average survival of more than 25 years many patients especially older ones with slowly progressing disease can be reassured and may not need any treatment in their lifetimes
hairy cell leukemia
hairy cell leukemia is an uncommon hematological malignancy characterized by an accumulation of abnormal b lymphocytes it is usually classified as a sub type of chronic lymphoid leukemia hairy cell leukemia makes up approximately 2 of all leukemias with fewer than 2 000 new cases diagnosed annually in north america and western europe combined
acute myeloid leukemia
acute myeloid leukemia aml also known as acute myelogenous leukemia or acute nonlymphocytic leukemia anll is a cancer of the myeloid line of blood cells characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells aml is the most common acute leukemia affecting adults and its incidence increases with age although aml is a relatively rare disease accounting for roughly 1 2 of cancer deaths in the united states its incidence is expected to increase as the population ages
chronic myelogenous leukemia
chronic myelogenous or myeloid or myelocytic leukemia cml also known as chronic granulocytic leukemia cgl is a cancer of the white blood cells it is a form of leukemia characterized by the increased and unregulated growth of predominantly myeloid cells in the bone marrow and the accumulation of these cells in the blood cml is a clonal bone marrow stem cell disorder in which a proliferation of mature granulocytes neutrophils eosinophils and basophils and their precursors is found it is a type of myeloproliferative disease associated with a characteristic chromosomal translocation called the philadelphia chromosome cml is now largely treated with targeted drugs called tyrosine kinase inhibitors tkis which have led to dramatically improved long term survival rates since the i
chronic myelogenous or myeloid or myelocytic leukemia cml also known as chronic granulocytic leukemia cgl is a cancer of the white blood cells it is a form of leukemia characterized by the increased and unregulated growth of predominantly myeloid cells in the bone marrow and the accumulation of these cells in the blood cml is a clonal bone marrow stem cell disorder in which a proliferation of mature granulocytes neutrophils eosinophils and basophils and their precursors is found it is a type of myeloproliferative disease associated with a characteristic chromosomal translocation called the philadelphia chromosome cml is now largely treated with targeted drugs called tyrosine kinase inhibitors tkis which have led to dramatically improved long term survival rates since the introduction of the first such agent in 2001 these drugs have revolutionized treatment of this disease and allow most patients to have a good quality of life when compared to the former chemotherapy drugs in western countries cml accounts for 15 20 of all adult leukemias and 14 of leukemias overall including the pediatric population
philadelphia chromosome
the philadelphia chromosome or philadelphia translocation is a specific genetic abnormality in chromosome 22 of leukemia cancer cells particularly chronic myelogenous leukemia cml cells this chromosome is defective and unusually short because of reciprocal translocation of genetic material between chromosome 9 and chromosome 22 and contains a fusion gene called bcr abl 1 this gene is the abl 1 gene of chromosome 9 juxtaposed onto the bcr gene of chromosome 22 coding for a hybrid protein a tyrosine kinase signalling protein that is always on causing the cell to divide uncontrollably
the philadelphia chromosome or philadelphia translocation is a specific genetic abnormality in chromosome 22 of leukemia cancer cells particularly chronic myelogenous leukemia cml cells this chromosome is defective and unusually short because of reciprocal translocation of genetic material between chromosome 9 and chromosome 22 and contains a fusion gene called bcr abl 1 this gene is the abl 1 gene of chromosome 9 juxtaposed onto the bcr gene of chromosome 22 coding for a hybrid protein a tyrosine kinase signalling protein that is always on causing the cell to divide uncontrollably the presence of this translocation is a highly sensitive test for cml since 95 of people with cml have this abnormality the remainder have either a cryptic translocation that is invisible on g banded chromosome preparations or a variant translocation involving another chromosome or chromosomes as well as the long arm of chromosomes 9 and 22 however the presence of the philadelphia ph chromosome is not sufficiently specific to diagnose cml since it is also found in acute lymphoblastic leukemia all 25 – 30 in adult and 2 – 10 in pediatric cases and occasionally in acute myelogenous leukemia aml
acute promyelocytic leukemia
acute promyelocytic leukemia apml apl is the m 3 subtype of acute myelogenous leukemia aml a cancer of the white blood cells in apl there is an abnormal accumulation of immature granulocytes called promyelocytes the disease is characterized by a chromosomal translocation involving the retinoic acid receptor alpha rarα or rara gene and is distinguished from other forms of aml by its responsiveness to all trans retinoic acid atra also known as tretinoin therapy acute promyelocytic leukemia was first characterized in 1957 by french and norwegian physicians as a hyperacute fatal illness with a median survival time of less than a week today prognoses have drastically improved 10 year survival rates are estimated to be approximately 77 according to one study
juvenile myelomonocytic leukemia
juvenile myelomonocytic leukemia jmml is a serious chronic leukemia cancer of the blood that affects children mostly aged 4 and younger the name jmml now encompasses all diagnoses formerly referred to as juvenile chronic myeloid leukemia jcml chronic myelomonocytic leukemia of infancy and infantile monosomy 7 syndrome the average age of patients at diagnosis is 2 years old the world health organization has included jmml in the category of myelodysplastic and myeloproliferative disorders
myelofibrosis
myelofibrosis also known as osteomyelofibrosis is a relatively rare bone marrow cancer it is currently classified as a myeloproliferative neoplasm in which the proliferation of an abnormal clone of hematopoietic stem cells in the bone marrow and other sites results in fibrosis or the replacement of the marrow with scar tissue
malignant histiocytosis
malignant histiocytosis also known as histiocytic medullary reticulosis is a rare hereditary disease found in the bernese mountain dog and humans characterized by histiocytic infiltration of the lungs and lymph nodes the liver spleen and central nervous system can also be affected histiocytes are a component of the immune system that proliferate abnormally in this disease in addition to its importance in veterinary medicine the condition is also important in human pathology
erdheim – chester disease
erdheim – chester disease also known as erdheim – chester syndrome or polyostotic sclerosing histiocytosis is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes or tissue macrophages technically this disease is termed a non langerhans cell histiocytosis usually onset is in middle age the disease involves an infiltration of lipid laden macrophages multinucleated giant cells an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow and a generalized sclerosis of the long bones
histiocytosis
in medicine histiocytosis refers to an excessive number of histiocytes tissue macrophages and is typically used to refer to a group of rare diseases which share this as a characteristic occasionally and confusingly the term histiocytosis is sometimes used to refer to individual diseases histiocytosis and malignant histiocytosis are both important in veterinary as well as human pathology
langerhans cell histiocytosis
langerhans cell histiocytosis lch is a rare disease involving clonal proliferation of langerhans cells abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes clinically its manifestations range from isolated bone lesions to multisystem disease lch is part of a group of clinical syndromes called histiocytoses which are characterized by an abnormal proliferation of histiocytes an archaic term for activated dendritic cells and macrophages these diseases are related to other forms of abnormal proliferation of white blood cells such as leukemias and lymphomas
bowen s disease
bowen s disease bd also known as squamous cell carcinoma in situ is a neoplastic skin disease it can be considered as an early stage or intraepidermal form of squamous cell carcinoma it was named after john t bowen erythroplasia of queyrat is a particular type of squamous cell carcinoma in situ which can arise on the glans or prepuce in males and vulva in females and may be induced by human papilloma virus it is reported to occur in corneoscleral limbus
lobular carcinoma in situ
ductal carcinoma in situ
ductal carcinoma in situ dcis also known as intraductal carcinoma is a pre cancerous or non invasive cancerous lesion of the breast dcis is classified as stage 0 it rarely produces symptoms or a breast lump one can feel and is usually detected through screening mammography about 20 – 30 of those who do not receive treatment develop breast cancer it is the most common type of pre cancer in women there is some disagreement as to whether for statistical purposes it should be counted as a cancer some include dcis when calculating breast cancer statistics while others do not
ductal carcinoma in situ dcis also known as intraductal carcinoma is a pre cancerous or non invasive cancerous lesion of the breast dcis is classified as stage 0 it rarely produces symptoms or a breast lump one can feel and is usually detected through screening mammography in dcis abnormal cells are found in the lining of one or more milk ducts in the breast in situ means in place and refers to the fact that the abnormal cells have not moved out of the mammary duct and into any of the surrounding tissues in the breast pre cancerous refers to the fact that it has not yet become an invasive cancer in some cases dcis may become invasive and spread to other tissues but there is no way of determining which lesions will remain stable without treatment and which will go on to become invasive dcis encompasses a wide spectrum of diseases ranging from low grade lesions that are not life threatening to high grade i e potentially highly aggressive lesions dcis has been classified according to the architectural pattern of the cells solid cribriform papillary and micropapillary tumor grade high intermediate and low grade and the presence or absence of comedo histology dcis can be detected on mammograms by examining tiny specks of calcium known as microcalcifications since suspicious groups of microcalcifications can appear even in the absence of dcis a biopsy may be necessary for diagnosis about 20 – 30 of those who do not receive treatment develop breast cancer it is the most common type of pre cancer in women there is some disagreement as to whether for statistical purposes it should be counted as a cancer some include dcis when calculating breast cancer statistics while others do not
cervical intraepithelial neoplasia
cervical intraepithelial neoplasia cin also known as cervical dysplasia and cervical interstitial neoplasia is the potentially premalignant transformation and abnormal growth dysplasia of squamous cells on the surface of the cervix cin is not cancer and is usually curable most cases of cin remain stable or are eliminated by the host s immune system without intervention however a small percentage of cases progress to become cervical cancer usually cervical squamous cell carcinoma scc if left untreated the major cause of cin is chronic infection of the cervix with the sexually transmitted human papillomavirus hpv especially the high risk hpv types 16 or 18 over 100 types of hpv have been identified about a dozen of these types appear to cause cervical dysplasia and may l
vulvar intraepithelial neoplasia
erythroplasia of queyrat
erythroplasia of queyrat is a squamous cell carcinoma in situ of the glans penis head of the penis or inner prepuce foreskin in males and the vulvae in females it mainly occurs in uncircumcised males over the age of 40 erythroplasia of queyrat may also occur on the anal mucosa or the oral mucosa it is named for french dermatologist louis queyrat 1856 1933 who was head of the dermatology service of l hôpital ricord a venereal hospital in paris now hôpital cochin
pleomorphic adenoma
warthin s tumor
warthin s tumor or warthin tumour also known as papillary cystadenoma lymphomatosum monomorphic adenoma or adenolymphoma is a benign cystic tumor of the salivary glands containing abundant lymphocytes and germinal centers lymph node like stroma it is named for pathologist aldred scott warthin who described two cases in 1929
adenoma
an adenoma from greek αδένας adeno gland ώμα oma tumor ˌædᵻˈnoʊmə plural adenomas or adenomata ˌædᵻˈnoʊmᵻtə is a benign tumor of epithelial tissue with glandular origin glandular characteristics or both adenomas can grow from many glandular organs including the adrenal glands pituitary gland thyroid prostate and others some adenomas grow from epithelial tissue in nonglandular areas but express glandular tissue structure as can happen in familial polyposis coli although adenomas are benign over time they may transform to become malignant at which point they are called adenocarcinomas most adenomas do not transform but even while benign they have the potential to cause serious health complications by compressing other structures mass effect and by pro
osteochondroma
osteochondromas or osteocartilaginous exostoses are the most common benign tumors of the bones the tumors take the form of cartilage capped bony projections or outgrowth on the surface of bones exostoses it is characterized as a type of overgrowth that can occur in any bone where cartilage forms bone tumors most commonly affect long bones in the leg pelvis or scapula shoulder blade development of osteochondromas take place during skeletal growth between the ages of 13 and 15 and ceases when the growth plate fuses at puberty they arise within the first three decades of life affecting children and adolescents osteochondromas occur in 3 of the general population and represent 35 of all benign tumors and 8 of all bone tumors majority of these tumors are solitary non hereditary le
osteochondromas or osteocartilaginous exostoses are the most common benign tumors of the bones the tumors take the form of cartilage capped bony projections or outgrowth on the surface of bones exostoses it is characterized as a type of overgrowth that can occur in any bone where cartilage forms bone tumors most commonly affect long bones in the leg pelvis or scapula shoulder blade development of osteochondromas take place during skeletal growth between the ages of 13 and 15 and ceases when the growth plate fuses at puberty they arise within the first three decades of life affecting children and adolescents osteochondromas occur in 3 of the general population and represent 35 of all benign tumors and 8 of all bone tumors majority of these tumors are solitary non hereditary lesions and approximately 15 of osteochondromas occur as hereditary multiple osteochondromas hmos they can occur as a solitary lesion solitary osteochondroma or multiple lesions within the context of the same bone multiple osteochondroma osteochondromas do not result from injury and the exact cause remains unknown recent research has indicated that multiple osteochondromas is an autosomal dominant inherited disease germ line mutations in ext 1 and ext 2 genes located on chromosomes 8 and 11 have been associated with the cause of the disease the treatment choice for osteochondroma is surgical removal of solitary lesion or partial excision of the outgrowth when symptoms cause motion limitations or nerve and blood vessel impingements
osteoma
an osteoma plural osteomata is a new piece of bone usually growing on another piece of bone typically the skull it is a benign tumor when the bone tumor grows on other bone it is known as homoplastic osteoma when it grows on other tissue it is called heteroplastic osteoma
chondroma
a chondroma is a benign cartilaginous tumor which is encapsulated with a lobular growing pattern tumor cells chondrocytes cartilaginous cells resemble normal cells and produce the cartilaginous matrix amorphous basophilic material characteristic features of this tumor include the vascular axes within the tumor which make the distinction with normal hyaline cartilage based upon location a chondroma can be described as an enchondroma or ecchondroma enchondroma tumor grows within the bone and expands it ecchondroma grows outward from the bone and this is rare
a chondroma is a benign cartilaginous tumor which is encapsulated with a lobular growing pattern tumor cells chondrocytes cartilaginous cells resemble normal cells and produce the cartilaginous matrix amorphous basophilic material characteristic features of this tumor include the vascular axes within the tumor which make the distinction with normal hyaline cartilage based upon location a chondroma can be described as an enchondroma or ecchondroma enchondroma tumor grows within the bone and expands it ecchondroma grows outward from the bone and this is rare treatment best left alone if it causes fractures enchondroma or is unsightly it should be removed by curettage and the defect filled with bone graft
keratocystic odontogenic tumour
ameloblastoma
ameloblastoma from the early english word amel meaning enamel the greek word blastos meaning germ is a rare benign tumor of odontogenic epithelium ameloblasts or outside portion of the teeth during development much more commonly appearing in the lower jaw than the upper jaw it was recognized in 1827 by cusack this type of odontogenic neoplasm was designated as an adamantinoma in 1885 by the french physician louis charles malassez it was finally renamed to the modern name ameloblastoma in 1930 by ivey and churchill
cementoblastoma
osteoid osteoma
an osteoid osteoma is a benign bone tumor that arises from osteoblasts and was originally thought to be a smaller version of an osteoblastoma osteoid osteomas tend to be less than 1 5 cm in size the tumor can be in any bone in the body but are most common in long bones such as the femur and tibia they account for 10 to 12 percent of all benign bone tumors osteoid osteomas may occur at any age and are most common in patients between the ages of 4 and 25 years old males are affected approximately three times more commonly than females
myelolipoma
myelolipoma myelo from the ancient greek μυελός marrow lipo meaning of or pertaining to fat oma meaning tumor or mass is a benign tumor like lesion composed of mature adipose fat tissue and haematopoietic blood forming elements in various proportions myelolipomas can present in the adrenal gland or outside of the gland
hibernoma
a hibernoma is a benign neoplasm of vestigial brown fat the term was originally used by gery in 1914
lipoma
a lipoma is a benign tumor composed of adipose tissue body fat it is the most common benign form of soft tissue tumor lipomas are soft to the touch usually movable and are generally painless many lipomas are small under one centimeter diameter but can enlarge to sizes greater than six centimeters lipomas are commonly found in adults from 40 to 60 years of age but can also be found in younger adults and children some sources claim that malignant transformation can occur while others say this has yet to be convincingly documented
blue rubber bleb nevus syndrome
blue rubber bleb nevus syndrome or brbns or blue rubber bleb syndrome or blue rubber bleb nevus or bean syndrome is a rare disorder that consists mainly of abnormal blood vessels affecting the gastrointestinal tract it was characterized by william bean in 1958 brbns is caused by somatic mutations in the tek tie 2 gene
angioma
angiomas are benign tumors derived from cells of the vascular or lymphatic vessel walls endothelium or derived from cells of the tissues surrounding these vessels angiomas are a frequent occurrence as patients age but they might be an indicator of systemic problems such as liver disease they are not commonly associated with malignancy
lymphangioma
lymphangiomas are malformations of the lymphatic system characterized by lesions that are thin walled cysts these cysts can be macroscopic as in a cystic hygroma or microscopic the lymphatic system is the network of vessels responsible for returning to the venous system excess fluid from tissues as well as the lymph nodes that filter this fluid for signs of pathogens these malformations can occur at any age and may involve any part of the body but 90 occur in children less than 2 years of age and involve the head and neck these malformations are either congenital or acquired congenital lymphangiomas are often associated with chromosomal abnormalities such as turner syndrome although they can also exist in isolation lymphangiomas are commonly diagnosed before birth using fetal ul
hemangioma
an infantile hemangioma ih is one of the most common benign tumors of infancy and occurs in approximately 5 – 10 of infants the word hemangioma comes from the greek haema αίμα blood angeio αγγείο vessel oma ωμα tumor infantile hemangiomas are benign vascular tumors composed of an increased number of unique endothelial cells that line blood vessels they occur more frequently in female premature and low birth weight infants infantile hemangiomas usually appear within the first weeks of life and grow most rapidly during the first three to six months of life for most hemangiomas 80 of infantile hemangioma size is generally reached by 3 months of age usually growth and proliferation is complete and involution commences by twelve months of age however involutio
cystic hygroma
a cystic hygroma also known as cystic lymphangioma and macrocystic lymphatic malformation is an often congenital multiloculated lymphatic lesion that can arise anywhere but is classically found in the left posterior triangle of the neck and armpits this is the most common form of lymphangioma it contains large cyst like cavities containing lymph a watery fluid that circulates throughout the lymphatic system microscopically cystic hygroma consists of multiple locules filled with lymph in the depth the locules are quite big but they decrease in size towards the surface
myoma
rhabdomyoma
a rhabdomyoma is a benign tumor of striated muscle rhabdomyomas may be either cardiac or extra cardiac occurring outside the heart extracardiac forms of rhabdomyoma are sub classified into three distinct types adult type fetal type and genital type cardiac rhabdomyomas are the most common primary tumor of the heart in infants and children it has an association with tuberous sclerosis in those with tuberous sclerosis the tumor may regress and disappear completely or remain consistent in size
a rhabdomyoma is a benign tumor of striated muscle rhabdomyomas may be either cardiac or extra cardiac occurring outside the heart extracardiac forms of rhabdomyoma are sub classified into three distinct types adult type fetal type and genital type cardiac rhabdomyomas are the most common primary tumor of the heart in infants and children it has an association with tuberous sclerosis in those with tuberous sclerosis the tumor may regress and disappear completely or remain consistent in size it is most commonly associated with the tongue and heart but can also occur in other locations such as the vagina malignant skeletal muscle tumors are referred to as rhabdomyosarcoma only rare cases of possible malignant change have been reported in fetal rhabdomyoma the differential diagnosis in the tongue includes ectomesenchymal chondromyxoid tumor
leiomyoma
myxoma
melanocytic nevus
a melanocytic nevus also known as nevocytic nevus is a type of lesion that contains nevus cells a type of melanocyte some sources equate the term mole with melanocytic nevus other sources reserve the term mole for other purposes
spitz nevus
a spitz nevus also known as an epithelioid and spindle cell nevus benign juvenile melanoma and spitz s juvenile melanoma is a benign melanocytic nevus a type of skin lesion affecting the epidermis and dermis the name juvenile melanoma is generally no longer used as it is misleading it is not a melanoma it is a benign lesion and it can also occur in adults not only in children
congenital melanocytic nevus
the congenital melanocytic nevus is a type of melanocytic nevus or mole found in infants at birth this type of birthmark occurs in an estimated 1 of infants worldwide it is located in the area of the head and neck 15 of the time
nevus of ota
nevus of ota also known as congenital melanosis bulbi nevus fuscoceruleus ophthalmomaxillaris oculodermal melanocytosis and oculomucodermal melanocytosis is a blue hyperpigmentation that occurs on the face it was first reported by dr m t ota of japan in 1939
mongolian spot
becker s nevus
becker s nevus also known as becker s melanosis becker s pigmentary hamartoma nevoid melanosis and pigmented hairy epidermal nevus is a skin disorder predominantly affecting males the nevus generally first appears as an irregular pigmentation melanosis or hyperpigmentation on the torso or upper arm though other areas of the body can be affected and gradually enlarges irregularly becoming thickened and often hairy hypertrichosis the nevus is due to an overgrowth of the epidermis pigment cells melanocytes and hair follicles this form of nevus was first documented in 1948 by american dermatologist samuel william becker 1894 – 1964
pilomatricoma
trichoepithelioma
trichoepithelioma is a neoplasm of the adnexa of the skin its appearance is similar to basal cell carcinoma one form has been mapped to chromosome 9 p 21
trichofolliculoma
trichofolliculoma is a cutaneous condition characterized by a benign highly structured tumor of the pilosebaceous unit
keratoacanthoma
keratoacanthoma ka is a common low grade unlikely to metastasize or invade skin tumour that is believed to originate from the neck of the hair follicle the defining characteristic of ka is that it is dome shaped symmetrical surrounded by a smooth wall of inflamed skin and capped with keratin scales and debris it grows rapidly reaching a large size within days or weeks and if untreated for months will almost always starve itself of nourishment necrose die slough and heal with scarring ka is commonly found on sun exposed skin often face forearms and hands
angiokeratoma
benign fibrous histiocytoma
benign fibrous histiocytomas also known as dermal dendrocytoma dermatofibroma fibrous dermatofibroma fibrous histiocytoma fibroma simplex nodular subepidermal fibrosis and sclerosing hemangioma are benign skin growths
hidrocystoma
hidrocystoma also known as cystadenoma a moll s gland cyst and a sudoriferous cyst is an adenoma of the sweat glands hidrocystomas are cysts of sweat ducts usually on the eyelids they are not tumours a similar sounding lesion called hidroadenoma is a benign tumour there are three types of sweat glands true sweat glands or eccrine glands sebaceous glands which have an oily secretion around hair follicles and apocrine glands which have more oily product than eccrine glands and are found on the face armpit and groin
hidrocystoma also known as cystadenoma a moll s gland cyst and a sudoriferous cyst is an adenoma of the sweat glands hidrocystomas are cysts of sweat ducts usually on the eyelids they are not tumours a similar sounding lesion called hidroadenoma is a benign tumour there are three types of sweat glands true sweat glands or eccrine glands sebaceous glands which have an oily secretion around hair follicles and apocrine glands which have more oily product than eccrine glands and are found on the face armpit and groin hidrocystomas usually arise from apocrine glands they are also called cysts of moll or sudoriferous cysts there may be a type of hidroadenoma that arises from eccrine glands but these are uncommon other related conditions on the eyelids include chalazion a granulomatous reaction to sebaceous glands on the eyelid lacrimal duct cysts cysts related to tear ducts and nasolacrimal duct cysts the nasolacrimal duct drains tears into the nose via a punctum on the lower eyelid
syringoma
syringomas are harmless eccrine sweat duct tumors typically found clustered on eyelids although they may also be found in the armpits abdomen chest neck scalp or groin area including genitals in a symmetric pattern they are skin colored or yellowish firm rounded bumps 1 – 3 mm in diameter and may be confused with xanthoma milia hidrocystoma trichoepithelioma and xanthelasma they are more common in women and are most commonly found in middle aged asian women while they can present at any time in life they typically present during adolescence they are usually not associated with any other symptoms although can sometimes cause itchiness or irritation
fibroadenoma
uterine fibroid
uterine fibroids also known as uterine leiomyomas or fibroids are benign smooth muscle tumors of the uterus most women have no symptoms while others may have painful or heavy periods if large enough they may push on the bladder causing a frequent need to urinate they may also cause pain during sex or lower back pain a woman can have one uterine fibroid or many of them occasionally fibroids may make it difficult to get pregnant although this is uncommon
meigs syndrome
dermoid cyst
a dermoid cyst is a teratoma of a cystic nature that contains an array of developmentally mature solid tissues it frequently consists of skin hair follicles and sweat glands while other commonly found components include clumps of long hair pockets of sebum blood fat bone nails teeth eyes cartilage and thyroid tissue
angiomyolipoma
angiomyolipomas are the most common benign tumour of the kidney and are composed of blood vessels smooth muscle cells and fat cells angiomyolipomas are strongly associated with the genetic disease tuberous sclerosis in which most individuals will have several angiomyolipomas affecting both kidneys they are also commonly found in women with the rare lung disease lymphangioleiomyomatosis angiomyolipomas are less commonly found in the liver and rarely in other organs whether associated with these diseases or sporadic angiomyolipomas are caused by mutations in either the tsc 1 or tsc 2 genes which govern cell growth and proliferation
neurofibromatosis type ii
neurofibromatosis type ii or misme syndrome for multiple inherited schwannomas meningiomas and ependymomas is a genetic condition which may be inherited or may arise spontaneously the main manifestation of the condition is the development of symmetric non malignant brain tumors in the region of the cranial nerve viii which is the auditory vestibular nerve that transmits sensory information from the inner ear to the brain many people with this condition also experience visual problems nf ii is caused by mutations of the merlin gene which seems to influence the form and movement of cells the principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions historically the underlying disorder has not had any therapy due to the
neurofibromatosis type ii or misme syndrome for multiple inherited schwannomas meningiomas and ependymomas is a genetic condition which may be inherited or may arise spontaneously the main manifestation of the condition is the development of symmetric non malignant brain tumors in the region of the cranial nerve viii which is the auditory vestibular nerve that transmits sensory information from the inner ear to the brain many people with this condition also experience visual problems nf ii is caused by mutations of the merlin gene which seems to influence the form and movement of cells the principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation however new drug research and some clinical trials have shown some promise in having beneficial effects collaborative research to find better treatments is ongoing such as the work of the synodos nf 2 consortium of scientists
pallister – hall syndrome
vestibular schwannoma
a vestibular schwannoma is a benign primary intracranial tumor of the myelin forming cells of the vestibulocochlear nerve 8 th cranial nerve a type of schwannoma this tumor arises from the schwann cells responsible for the myelin sheath that helps keep peripheral nerves insulated although it is commonly called an acoustic neuroma this a misnomer for two reasons first the tumor usually arises from the vestibular division of the vestibulocochlear nerve rather than the cochlear division second it is derived from the schwann cells of the associated nerve rather than the actual neurons neuromas
thyroid adenoma
pheochromocytoma
pituitary adenoma
pituitary adenomas are tumors that occur in the pituitary gland pituitary adenomas are generally divided into three categories dependent upon their biological functioning benign adenoma invasive adenoma and carcinomas with carcinomas accounting for 0 1 to 0 2 approximately 35 being invasive adenomas and most being benign adenomas pituitary adenomas represent from 10 to 25 of all intracranial neoplasms and the estimated prevalence rate in the general population is approximately 17
prolactinoma
a prolactinoma is a benign tumor adenoma of the pituitary gland that produces a hormone called prolactin it is the most common type of pituitary tumor symptoms of prolactinoma are too much prolactin in the blood hyperprolactinemia or those caused by pressure of the tumor on surrounding tissues based on size a prolactinoma can be classified as a microprolactinoma 10 mm diameter or macroprolactinoma 10 mm diameter
neurofibroma
a neurofibroma is a benign nerve sheath tumor in the peripheral nervous system in 90 of cases they re found as stand alone tumors while the remainder are found in persons with neurofibromatosis type i nf 1 an autosomal dominant genetically inherited disease they can result in a range of symptoms from physical disfiguration and pain to cognitive disability neurofibromas arise from nonmyelinating type schwann cells that exhibit biallelic inactivation of the nf 1 gene that codes for the protein neurofibromin this protein is responsible for regulating the ras mediated cell growth signaling pathway in contrast to schwannomas another type of tumor arising from schwann cells neurofibromas incorporate many additional types of cells and structural elements in addition to schwann cells ma
a neurofibroma is a benign nerve sheath tumor in the peripheral nervous system in 90 of cases they re found as stand alone tumors while the remainder are found in persons with neurofibromatosis type i nf 1 an autosomal dominant genetically inherited disease they can result in a range of symptoms from physical disfiguration and pain to cognitive disability neurofibromas arise from nonmyelinating type schwann cells that exhibit biallelic inactivation of the nf 1 gene that codes for the protein neurofibromin this protein is responsible for regulating the ras mediated cell growth signaling pathway in contrast to schwannomas another type of tumor arising from schwann cells neurofibromas incorporate many additional types of cells and structural elements in addition to schwann cells making it difficult to identify and understand all the mechanisms through which they originate and develop
granular cell tumor
granular cell tumor is a tumor that can develop on any skin or mucosal surface but occurs on the tongue 40 of the time it is also known as abrikossoff s tumor granular cell myoblastoma granular cell nerve sheath tumor and granular cell schwannoma
ganglioneuroma
craniopharyngioma
pinealoma
pinealoma is a tumor of the pineal gland
polycythemia vera
polycythemia or polycythaemia see spelling differences vera pv also known as erythremia primary polycythemia vaquez disease osler vaquez disease and polycythemia rubra vera is a neoplasm in which the bone marrow makes too many red blood cells it may also result in the overproduction of white blood cells and platelets
myelodysplastic syndrome
the myelodysplastic syndromes also known as mds or myelodysplasia are hematological i e blood related medical conditions that cause ineffective production or dysplasia of all blood cells patients with mds can develop severe anemia and require blood transfusions in some cases the disease worsens and the patient develops cytopenias low blood counts caused by progressive bone marrow failure the outlook in mds depends on the type and severity many people live normal lifespans with mds
the myelodysplastic syndromes also known as mds or myelodysplasia are hematological i e blood related medical conditions that cause ineffective production or dysplasia of all blood cells patients with mds can develop severe anemia and require blood transfusions in some cases the disease worsens and the patient develops cytopenias low blood counts caused by progressive bone marrow failure the outlook in mds depends on the type and severity many people live normal lifespans with mds the myelodysplastic syndromes are all disorders of the hematopoietic stem cells in the bone marrow only related to myeloid lineage in mds hematopoiesis i e blood production is disorderly and ineffective the number and quality of blood forming cells decline irreversibly further impairing blood production the mean age of onset of mds is 68 years
myeloproliferative neoplasm
the myeloproliferative neoplasms mpns previously myeloproliferative diseases mpds are a group of diseases of the bone marrow in which excess cells are produced they are related to and may evolve into myelodysplastic syndrome and acute myeloid leukemia although the myeloproliferative diseases on the whole have a much better prognosis than these conditions the concept of myeloproliferative disease was first proposed in 1951 by the hematologist william dameshek in the most recent world health organization classification of hematologic malignancies this group of diseases was renamed from myeloproliferative diseases to myeloproliferative neoplasms this reflects the underlying clonal genetic changes that are a salient feature of this group of disease
paraproteinemia
paraproteinemia also known as monoclonal gammopathy is the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood it is usually due to an underlying immunoproliferative disorder or hematologic neoplasms especially multiple myeloma it is sometimes considered equivalent to plasma cell dyscrasia
monoclonal gammopathy of undetermined significance
monoclonal gammopathy of undetermined significance mgus unknown or uncertain may be substituted for undetermined formerly benign monoclonal gammopathy is a condition in which a paraprotein is found in the blood during standard laboratory blood tests it resembles multiple myeloma and similar diseases but the levels of antibody are lower the number of plasma cells white blood cells that secrete antibodies in the bone marrow is lower it has no symptoms or major problems although patients with mgus have sometimes been reported to suffer from peripheral neuropathy and no treatment is indicated however multiple myeloma develops at the rate of about 1 5 a year so doctors recommend monitoring it yearly the progression from mgus to multiple myeloma usually involves several steps
monoclonal gammopathy of undetermined significance mgus unknown or uncertain may be substituted for undetermined formerly benign monoclonal gammopathy is a condition in which a paraprotein is found in the blood during standard laboratory blood tests it resembles multiple myeloma and similar diseases but the levels of antibody are lower the number of plasma cells white blood cells that secrete antibodies in the bone marrow is lower it has no symptoms or major problems although patients with mgus have sometimes been reported to suffer from peripheral neuropathy and no treatment is indicated however multiple myeloma develops at the rate of about 1 5 a year so doctors recommend monitoring it yearly the progression from mgus to multiple myeloma usually involves several steps in rare cases it may also be related with a slowly progressive symmetric distal sensorimotor neuropathy
thrombocytosis
thrombocytosis or thrombocythemia is the presence of high platelet counts in the blood and can be either primary also termed essential and caused by a myeloproliferative disease or reactive also termed secondary although often symptomless particularly when it is a secondary reaction it can predispose to thrombosis in some patients thrombocytosis can be contrasted with thrombocytopenia a loss of platelets in the blood
thrombocytosis or thrombocythemia is the presence of high platelet counts in the blood and can be either primary also termed essential and caused by a myeloproliferative disease or reactive also termed secondary although often symptomless particularly when it is a secondary reaction it can predispose to thrombosis in some patients thrombocytosis can be contrasted with thrombocytopenia a loss of platelets in the blood in a healthy individual a normal platelet count ranges from 150 000 and 450 000 per mm ³ or microlitre 150 – 450 x 109 l these limits however are determined by the 2 5 th lower and upper percentile and a deviation does not necessary imply any form of disease nevertheless counts over 750 000 and especially over a million are considered serious enough to warrant investigation and intervention
castleman s disease
castleman disease also known as giant or angiofollicular lymph node hyperplasia lymphoid hamartoma angiofollicular lymph node hyperplasia is a group of uncommon lymphoproliferative disorders that share common lymph node histological features that may be localized to a single lymph node unicentric or occur systemically multicentric it is named after benjamin castleman
castleman disease also known as giant or angiofollicular lymph node hyperplasia lymphoid hamartoma angiofollicular lymph node hyperplasia is a group of uncommon lymphoproliferative disorders that share common lymph node histological features that may be localized to a single lymph node unicentric or occur systemically multicentric it is named after benjamin castleman multicentric castleman disease mcd involves hyperactivation of the immune system excessive release of proinflammatory chemicals cytokines proliferation of immune cells b cells and t cells and multiple organ system dysfunction castleman disease must be distinguished from other disorders that can demonstrate castleman like lymph node features including reactive lymph node hyperplasia autoimmune disorders and malignancies while not officially considered a cancer the overgrowth of lymphocytes with this disease is similar to lymphoma and more research is needed to search for small populations of neoplastic cells castleman disease is a focus of intense ongoing research
lymphoproliferative disorders
lymphoproliferative disorders lpds refer to several conditions in which lymphocytes are produced in excessive quantities they typically occur in people who have a compromised immune system they are sometimes equated with immunoproliferative disorders but technically lymphoproliferative disorders are a subset of immunoproliferative disorders along with hypergammaglobulinemia and paraproteinemias
aggressive fibromatosis
aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors desmoid tumors can arise in virtually any part of the body and are tumors that arise from cells called fibroblasts which are found throughout the body and provide structural support protection to the vital organs and play a critical role in wound healing these tumors tend to occur in women in their thirties but can occur in anyone at any age they can be either relatively slow growing or malignant however aggressive fibromatosis is locally aggressive when they are aggressive they can cause life threatening problems or even death when they compress vital organs such as intestines kidney lungs blood vessels nerves etc most cases are sporadic but some are associated with familial adenomatous p
aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors desmoid tumors can arise in virtually any part of the body and are tumors that arise from cells called fibroblasts which are found throughout the body and provide structural support protection to the vital organs and play a critical role in wound healing these tumors tend to occur in women in their thirties but can occur in anyone at any age they can be either relatively slow growing or malignant however aggressive fibromatosis is locally aggressive when they are aggressive they can cause life threatening problems or even death when they compress vital organs such as intestines kidney lungs blood vessels nerves etc most cases are sporadic but some are associated with familial adenomatous polyposis fap approximately 10 of individuals with gardner s syndrome a type of fap with extracolonic features have desmoid tumors histologically they resemble very low grade fibrosarcomas but they are very locally aggressive and tend to recur even after complete resection there is a tendency for recurrence in the setting of prior surgery in one study two thirds of patients with desmoid tumors had a history of prior abdominal surgery risk factors for desmoid disease amongst fap patients include female sex a 3 apc mutation a positive family history and a history of previous abdominal surgery
hemangioblastoma
hemangioblastomas or haemangioblastomas see spelling differences capilliary hemangioblastomas are tumors of the central nervous system that originate from the vascular system usually during middle age sometimes these tumors occur in other sites such as the spinal cord and retina they may be associated with other diseases such as polycythemia increased blood cell count pancreatic cysts and von hippel lindau syndrome vhl syndrome hemangioblastomas are most commonly composed of stromal cells in small blood vessels and usually occur in the cerebellum brain stem or spinal cord they are classed as grade one tumors under the world health organization s classification system
dysplastic nevus
a dysplastic nevus or atypical mole is a nevus mole whose appearance is different from that of common moles in 1992 the nih recommended that the term dysplastic nevus be avoided in favor of the term atypical mole an atypical mole may also be referred to as an atypical melanocytic nevus atypical nevus b k mole clark s nevus dysplastic melanocytic nevus or nevus with architectural disorder dysplastic nevi can be found anywhere but are most common on the trunk in men and on the calves in women
a dysplastic nevus or atypical mole is a nevus mole whose appearance is different from that of common moles in 1992 the nih recommended that the term dysplastic nevus be avoided in favor of the term atypical mole an atypical mole may also be referred to as an atypical melanocytic nevus atypical nevus b k mole clark s nevus dysplastic melanocytic nevus or nevus with architectural disorder dysplastic nevi often grow to larger than ordinary moles and may have irregular and indistinct borders their color may not be uniform and may range from light pink to very dark brown they usually begin as flat but parts may raise above the skin surface see abcde and ugly duckling characteristics below dysplastic nevi can be found anywhere but are most common on the trunk in men and on the calves in women
iron deficiency anemia
iron deficiency anemia also spelled iron deficiency anaemia is anemia caused by a lack of iron anemia is defined as a decrease in the amount of red blood cells rbcs or hemoglobin in the blood when anemia comes on slowly the symptoms are often vague and may include feeling tired weakness shortness of breath or poor ability to exercise anemia that comes on quickly often has greater symptoms which may include confusion feeling like one is going to pass out and increased thirst there needs to be significant anemia before a person becomes noticeably pale there may be additional symptoms depending on the underlying cause
anemia
anemia also spelled anaemia is usually defined as a decrease in the amount of red blood cells rbcs or hemoglobin in the blood it can also be defined as a lowered ability of the blood to carry oxygen when anemia comes on slowly the symptoms are often vague and may include feeling tired weakness shortness of breath or a poor ability to exercise anemia that comes on quickly often has greater symptoms which may include confusion feeling like one is going to pass out loss of consciousness or increased thirst anemia must be significant before a person becomes noticeably pale additional symptoms may occur depending on the underlying cause
anemia also spelled anaemia is usually defined as a decrease in the amount of red blood cells rbcs or hemoglobin in the blood it can also be defined as a lowered ability of the blood to carry oxygen when anemia comes on slowly the symptoms are often vague and may include feeling tired weakness shortness of breath or a poor ability to exercise anemia that comes on quickly often has greater symptoms which may include confusion feeling like one is going to pass out loss of consciousness or increased thirst anemia must be significant before a person becomes noticeably pale additional symptoms may occur depending on the underlying cause there are three main types of anemia that due to blood loss that due to decreased red blood cell production and that due to increased red blood cell breakdown causes of blood loss include trauma and gastrointestinal bleeding among others causes of decreased production include iron deficiency a lack of vitamin b 12 thalassemia and a number of neoplasms of the bone marrow causes of increased breakdown include a number of genetic conditions such as sickle cell anemia infections like malaria and certain autoimmune diseases it can also be classified based on the size of red blood cells and amount of hemoglobin in each cell if the cells are small it is microcytic anemia if they are large it is macrocytic anemia while if they are normal sized it is normocytic anemia diagnosis in men is based on a hemoglobin of less than 130 to 140 g l 13 to 14 g dl while in women it must be less than 120 to 130 g l 12 to 13 g dl further testing is then required to determine the cause certain groups of individuals such as pregnant women benefit from the use of iron pills for prevention dietary supplementation without determining the specific cause is not recommended the use of blood transfusions is typically based on a person s signs and symptoms in those without symptoms they are not recommended unless hemoglobin levels are less than 60 to 80 g l 6 to 8 g dl these recommendations may also apply to some people with acute bleeding erythropoiesis stimulating medications are only recommended in those with severe anemia anemia is the most common disorder of the blood affecting about a quarter of the people globally iron deficiency anemia affects nearly 1 billion in 2013 anemia due to iron deficiency resulted in about 183 000 deaths – down from 213 000 deaths in 1990 it is more common in females than males among children during pregnancy and in the elderly anemia increases costs of medical care and lowers a person s productivity through a decreased ability to work the name is derived from ancient greek ἀναιμία anaimia meaning lack of blood from ἀν an not αἷμα haima blood
plummer – vinson syndrome
plummer – vinson syndrome pvs also called paterson – brown – kelly syndrome or sideropenic dysphagia is a rare disease characterized by difficulty in swallowing iron deficiency anemia glossitis cheilosis and esophageal webs treatment with iron supplementation and mechanical widening of the esophagus generally provides an excellent outcome
plummer – vinson syndrome pvs also called paterson – brown – kelly syndrome or sideropenic dysphagia is a rare disease characterized by difficulty in swallowing iron deficiency anemia glossitis cheilosis and esophageal webs treatment with iron supplementation and mechanical widening of the esophagus generally provides an excellent outcome while exact data about the epidemiology is unknown this syndrome has become extremely rare the reduction in the prevalence of pvs has been hypothesized to be the result of improvements in nutritional status and availability in countries where the syndrome was previously described it generally occurs in postmenopausal women its identification and follow up is considered relevant due to increased risk of squamous cell carcinomas of the esophagus and pharynx
microcytic anemia
microcytic anaemia is any of several types of anemia characterized by small red blood cells called microcytes the normal mean corpuscular volume abbreviated to mcv on full blood count results is 80 100 fl with smaller cells 80 fl described as microcytic and larger cells 100 fl as macrocytic the latter occur in macrocytic anemia the mcv is the average red blood cell size
microcytic anaemia is any of several types of anemia characterized by small red blood cells called microcytes the normal mean corpuscular volume abbreviated to mcv on full blood count results is 80 100 fl with smaller cells 80 fl described as microcytic and larger cells 100 fl as macrocytic the latter occur in macrocytic anemia the mcv is the average red blood cell size in microcytic anemia the red blood cells erythrocytes are usually also hypochromic meaning that the red blood cells appear paler than usual this is reflected by a lower than normal mean corpuscular hemoglobin concentration mchc a measure representing the amount of hemoglobin per unit volume of fluid inside the cell normally about 320 360 g l or 32 36 g dl typically therefore anemia of this category is described as microcytic hypochromic anaemia
pernicious anemia
pernicious anemia also known as vitamin b 12 deficiency anemia is a disease in which there are not enough red blood cells due to a lack of vitamin b 12 the most common initial symptom is feeling tired other symptoms may include shortness of breath pale skin chest pain numbness in the hands and feet poor balance a smooth red tongue poor reflexes and confusion if treatment is not provided some of these problems may become permanent
pernicious anemia also known as vitamin b 12 deficiency anemia is a disease in which there are not enough red blood cells due to a lack of vitamin b 12 the most common initial symptom is feeling tired other symptoms may include shortness of breath pale skin chest pain numbness in the hands and feet poor balance a smooth red tongue poor reflexes and confusion if treatment is not provided some of these problems may become permanent although pernicious anemia technically refers to cases resulting from not enough intrinsic factor it is often used to describe all cases of anemia due to not enough vitamin b 12 lack of intrinsic factor is most commonly due to an autoimmune attack on the cells that make it in the stomach it can also occur following the surgical removal of part of the stomach or from an inherited disorder other causes of low vitamin b 12 include a poor diet celiac disease and a tapeworm infection when suspected diagnosis is made by blood and occasionally bone marrow tests blood tests may show fewer but larger red blood cells low numbers of young red blood cells low levels of vitamin b 12 and antibodies to intrinsic factor pernicious anemia due to lack of intrinsic factor is not preventable vitamin b 12 deficiency due to other causes may be prevented with a balanced diet or with supplements pernicious anemia can be easily treated with either injections or pills of vitamin b 12 if the symptoms are severe injections are typically recommended initially for those who have trouble swallowing pills a nasal spray is available often treatment is lifelong pernicious anemia due to autoimmune problems occurs in about 1 per 1000 people among those over the age of 60 about 2 have the condition it more commonly affects people of northern european descent women are more commonly affected than men with proper treatment most people live normal lives due to a higher risk of stomach cancer those with pernicious anemia should be checked regularly for this the first clear description was by thomas addison in 1849 the term pernicious means deadly and was used as before the availability of treatment the disease was often fatal
hemolytic anemia
hemolytic anemia or haemolytic anaemia is a form of anemia due to hemolysis the abnormal breakdown of red blood cells rbcs either in the blood vessels intravascular hemolysis or elsewhere in the human body extravascular it has numerous possible consequences ranging from relatively harmless to life threatening the general classification of hemolytic anemia is either inherited or acquired treatment depends on the cause and nature of the breakdown
glucose 6 phosphate dehydrogenase deficiency
glucose 6 phosphate dehydrogenase deficiency g 6 pd deficiency also known as favism after the fava bean is an x linked recessive inborn error of metabolism that predisposes to hemolysis spontaneous destruction of red blood cells and resultant jaundice in response to a number of triggers such as certain foods illness or medication it is particularly common in people of mediterranean and african origin the condition is characterized by abnormally low levels of glucose 6 phosphate dehydrogenase an enzyme involved in the pentose phosphate pathway that is especially important in the red blood cell g 6 pd deficiency is the most common human enzyme defect there is no specific treatment other than avoiding known triggers in the united states no genetic screening of prospective paren
glucose 6 phosphate dehydrogenase deficiency g 6 pd deficiency also known as favism after the fava bean is an x linked recessive inborn error of metabolism that predisposes to hemolysis spontaneous destruction of red blood cells and resultant jaundice in response to a number of triggers such as certain foods illness or medication it is particularly common in people of mediterranean and african origin the condition is characterized by abnormally low levels of glucose 6 phosphate dehydrogenase an enzyme involved in the pentose phosphate pathway that is especially important in the red blood cell g 6 pd deficiency is the most common human enzyme defect there is no specific treatment other than avoiding known triggers in the united states no genetic screening of prospective parents is recommended as the symptoms only show in part of the carriers and when that is the case they can be prevented or controlled and as a result the disease generally has no impact on the lifespan of those affected however globally g 6 pd deficiency has resulted in 4 100 deaths in 2013 and 3 400 deaths in 1990 carriers of the g 6 pd allele appear to be protected to some extent against malaria and in some cases affected males have shown complete immunity to the disease this accounts for the persistence of the allele in certain populations in that it confers a selective advantage
triosephosphate isomerase deficiency
triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965 it is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia cardiomyopathy susceptibility to infections severe neurological dysfunction and in most cases death in early childhood the disease is exceptionally rare with fewer than 100 patients diagnosed worldwide
thalassemia
thalassemias are inherited blood disorders that can result in the abnormal formation of hemoglobin symptoms depend on the type and can vary from none to severe often there is mild to severe anemia low red blood cells anemia can result in feeling tired and pale skin there may also be bone problems an enlarged spleen yellowish skin dark urine and among children slow growth
thalassemias are inherited blood disorders that can result in the abnormal formation of hemoglobin symptoms depend on the type and can vary from none to severe often there is mild to severe anemia low red blood cells anemia can result in feeling tired and pale skin there may also be bone problems an enlarged spleen yellowish skin dark urine and among children slow growth thalassemias are genetic disorders inherited from a person s parents there are two main types alpha thalassemia and beta thalassemia the severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing diagnosis is typically by blood tests including a complete blood count special hemoglobin tests and genetic tests diagnosis may occur before birth through prenatal testing treatment depends on the type and severity treatment for those with more severe disease often includes regular blood transfusions iron chelation and folic acid iron chelation may be done with deferoxamine or deferasirox occasionally a bone marrow transplant may be an option complications may include iron overload from the transfusions with resulting heart or liver disease infections and osteoporosis if the spleen becomes overly enlarged surgical removal may be required as of 2013 thalassemia occurs in about 208 million people with about 4 7 million having severe disease it is most common among people of italian greek middle eastern south asian and african descent males and females have similar rates of disease it resulted in 25 000 deaths in 2013 down from 36 000 deaths in 1990 those who have minor degrees of thalassemia similar to those with sickle cell trait have some protection against malaria explaining why they are more common in regions of the world where malaria exists
alpha thalassemia
alpha thalassemia α thalassemia α thalassaemia is a form of thalassemia involving the genes hba 1 and hba 2 alpha thalassemia is due to impaired production of alpha chains from 1 2 3 or all 4 of the alpha globin genes leading to a relative excess of beta globin chains the degree of impairment is based on which clinical phenotype is present how many genes are affected
sickle cell disease
sickle cell disease scd is a group of blood disorders typically inherited from a person s parents the most common type is known as sickle cell anaemia sca it results in an abnormality in the oxygen carrying protein haemoglobin found in red blood cells this leads to a rigid sickle like shape under certain circumstances problems in sickle cell disease typically begin around 5 to 6 months of age a number of health problems may develop such as attacks of pain sickle cell crisis anemia bacterial infections and stroke long term pain may develop as people get older the average life expectancy in the developed world is 40 to 60 years
hereditary spherocytosis
hereditary spherocytosis also known as minkowski – chauffard syndrome is an autosomal dominant abnormality of erythrocytes the disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape the abnormal erythrocytes are sphere shaped spherocytosis rather than the normal biconcave disk shaped dysfunctional membrane proteins interfere with the cell s ability to be flexible to travel from the arteries to the smaller capillaries this difference in shape also makes the red blood cells more prone to rupture cells with these dysfunctional proteins are taken for degradation at the spleen this shortage of erythrocytes results in hemolytic anemia
hemoglobin c
hemoglobin c abbreviated as hb c or hbc is an abnormal hemoglobin in which substitution of a glutamic acid residue with a lysine residue at the 6 th position of the β globin chain has occurred e 6 k substitution
autoimmune hemolytic anemia
autoimmune hemolytic anemia or autoimmune haemolytic anaemia aiha occurs when antibodies directed against the person s own red blood cells rbcs cause them to burst lyse leading to insufficient plasma concentration the lifetime of the rbcs is reduced from the normal 100 – 120 days to just a few days in serious cases the intracellular components of the rbcs are released into the circulating blood and into tissues leading to some of the characteristic symptoms of this condition the antibodies are usually directed against high incidence antigens therefore they also commonly act on allogenic rbcs rbcs originating from outside the person themselves e g in the case of a blood transfusion aiha is a relatively rare condition affecting one to three people per 100 000 per year
hemolytic uremic syndrome
hemolytic uremic syndrome or haemolytic uraemic syndrome abbreviated hus is a disease characterized by hemolytic anemia anemia caused by destruction of red blood cells acute kidney failure uremia and a low platelet count thrombocytopenia it predominantly but not exclusively affects children most cases are preceded by an episode of infectious sometimes bloody diarrhea acquired as a foodborne illness or from a contaminated water supply caused by e coli o 157 h 7 other non o 157 h 7 e coli serotypes shigella and campylobacter a variety of viruses have also been implicated as a causative agent it is now the most common cause of acquired acute renal failure in childhood it is a medical emergency and carries a 5 – 10 mortality rate of the remainder the majority recover wit
paroxysmal nocturnal hemoglobinuria
paroxysmal nocturnal hemoglobinuria pnh is a rare acquired life threatening disease of the blood characterized by destruction of red blood cells by the complement system a part of the body s intrinsic immune system this destructive process is a result of a defect in the formation of surface proteins on the red blood cell which normally function to inhibit such immune reactions since the complement cascade attacks the red blood cells throughout the circulatory system the hemolysis is considered an intravascular hemolytic anemia other key features of the disease notably the high incidence of thrombosis are not totally understood
paroxysmal nocturnal hemoglobinuria pnh is a rare acquired life threatening disease of the blood characterized by destruction of red blood cells by the complement system a part of the body s intrinsic immune system this destructive process is a result of a defect in the formation of surface proteins on the red blood cell which normally function to inhibit such immune reactions since the complement cascade attacks the red blood cells throughout the circulatory system the hemolysis is considered an intravascular hemolytic anemia other key features of the disease notably the high incidence of thrombosis are not totally understood pnh is the only hemolytic anemia caused by an acquired rather than inherited intrinsic defect in the cell membrane deficiency of glycophosphatidylinositol leading to absence of protective proteins on the membrane it may develop on its own primary pnh or in the context of other bone marrow disorders such as aplastic anemia secondary pnh only a minority 26 have the telltale red urine in the morning that originally gave the condition its name allogeneic bone marrow transplantation is the only curative therapy but has significant rates of both mortality and ongoing morbidity the monoclonal antibody eculizumab is effective at reducing the need for blood transfusions and improving quality of life it however does not appear to change the risk of death or blood clots and has an extremely high price with a single year of treatment costing at least 440 000
pure red cell aplasia
pure red cell aplasia prca or erythroblastopenia refers to a type of anemia affecting the precursors to red blood cells but not to white blood cells in prca the bone marrow ceases to produce red blood cells the condition has been first described by paul kaznelson in 1922
aplastic anemia
aplastic anemia is a rare disease in which the bone marrow and the hematopoietic stem cells that reside there are damaged this causes a deficiency of all three blood cell types pancytopenia red blood cells anemia white blood cells leukopenia and platelets thrombocytopenia aplastic refers to inability of the stem cells to generate mature blood cells the definitive diagnosis is by bone marrow biopsy normal bone marrow has 30 – 70 blood stem cells but in aplastic anemia these cells are mostly gone and replaced by fat
fanconi anemia
fanconi anaemia fa is a rare genetic disease among those affected the majority develop cancer most often acute myelogenous leukemia and 90 develop bone marrow failure the inability to produce blood cells by age 40 about 60 – 75 of people have congenital defects commonly short stature abnormalities of the skin arms head eyes kidneys and ears and developmental disabilities around 75 of people have some form of endocrine problem with varying degrees of severity fa is the result of a genetic defect in a cluster of proteins responsible for dna repair
diamond – blackfan anemia
diamond – blackfan anemia dba also known as blackfan diamond anemia inherited pure red cell aplasia and as inherited erythroblastopenia is a congenital erythroid aplasia that usually presents in infancy dba causes low red blood cell counts anemia without substantially affecting the other blood components the platelets and the white blood cells which are usually normal this is in contrast to shwachman – bodian – diamond syndrome in which the bone marrow defect results primarily in neutropenia and fanconi anemia where all cell lines are affected resulting in pancytopenia
pancytopenia
congenital dyserythropoietic anemia
congenital dyserythropoietic anemia cda is a rare blood disorder similar to the thalassemias cda is one of many types of anemia characterized by ineffective erythropoiesis and resulting from a decrease in the number of red blood cells rbcs in the body and a less than normal quantity of hemoglobin in the blood
disseminated intravascular coagulation
disseminated intravascular coagulation dic also known as disseminated intravascular coagulopathy or less commonly as consumptive coagulopathy is a pathological process characterized by the widespread activation of the clotting cascade that results in the formation of blood clots in the small blood vessels throughout the body this leads to compromise of tissue blood flow and can ultimately lead to multiple organ damage in addition as the coagulation process consumes clotting factors and platelets normal clotting is disrupted and severe bleeding can occur from various sites
disseminated intravascular coagulation dic also known as disseminated intravascular coagulopathy or less commonly as consumptive coagulopathy is a pathological process characterized by the widespread activation of the clotting cascade that results in the formation of blood clots in the small blood vessels throughout the body this leads to compromise of tissue blood flow and can ultimately lead to multiple organ damage in addition as the coagulation process consumes clotting factors and platelets normal clotting is disrupted and severe bleeding can occur from various sites dic does not occur by itself but only as a complicating factor from another underlying condition usually in those with a critical illness the combination of widespread loss of tissue blood flow and simultaneous bleeding leads to an increased risk of death in addition to that posed by the underlying disease dic can be overt and severe in some cases but milder and insidious in others the diagnosis of dic depends on the findings of characteristic laboratory tests and clinical background treatment is mainly geared towards the underlying condition
coagulopathy
haemophilia
haemophilia also spelled hemophilia is a mostly inherited genetic disorder that impairs the body s ability to make blood clots a process needed to stop bleeding this results in people bleeding longer after an injury easy bruising and an increased risk of bleeding inside joints or the brain those with mild disease may only have symptoms after an accident or during surgery bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches seizures or a decreased level of consciousness
von willebrand disease
von willebrand disease vwd ˌfʌnˈvɪlᵻbrɑːnt is the most common hereditary blood clotting disorder in humans an acquired form can sometimes result from other medical conditions it arises from a deficiency in the quality or quantity of von willebrand factor vwf a multimeric protein that is required for platelet adhesion it is known to affect humans and several breeds of dogs the three forms of vwd are hereditary acquired and pseudo or platelet type the three types of hereditary vwd are vwd type 1 vwd type 2 and vwd type 3 type 2 contains various subtypes platelet type vwd is also an inherited condition
haemophilia c
haemophilia c also known as plasma thromboplastin antecedent pta deficiency or rosenthal syndrome is a mild form of haemophilia affecting both sexes due to factor xi deficiency however it predominantly occurs in jewish people of ashkenazi descent it is the fourth most common coagulation disorder after von willebrand s disease and haemophilia a and b in the united states it is thought to affect 1 in 100 000 of the adult population making it 10 as common as haemophilia a
factor xiii deficiency
factor xiii deficiency occurs exceedingly rarely causing a severe bleeding tendency the incidence is one in a million to one in five million people with higher incidence in areas with consanguineous marriage such as iran that has the highest global incidence of the disorder most are due to mutations in the a subunit gene located on chromosome 6 p 25 p 24 this mutation is inherited in an autosomal recessive fashion
protein c deficiency
protein c deficiency is a rare genetic trait that predisposes to thrombotic disease it was first described in 1981 the disease belongs to a group of genetic disorders known as thrombophilias protein c deficiency is associated with an increased incidence of venous thromboembolism relative risk 8 – 10 whereas no association with arterial thrombotic disease has been found
protein s deficiency
protein s deficiency is a disorder associated with increased risk of venous thrombosis protein s a vitamin k dependent physiological anticoagulant acts as a nonenzymatic cofactor to activate protein c in the degradation of factor va and factor viiia decreased antigen levels or impaired function of protein s leads to decreased degradation of factor va and factor viiia and an increased propensity to venous thrombosis protein s circulates in human plasma in two forms approximately 60 percent is bound to complement component c 4 b β chain while the remaining 40 percent is free only free protein s has activated protein c cofactor activity
factor v leiden
thrombophilia
thrombophilia sometimes hypercoagulability or a prothrombotic state is an abnormality of blood coagulation that increases the risk of thrombosis blood clots in blood vessels such abnormalities can be identified in 50 of people who have an episode of thrombosis such as deep vein thrombosis in the leg that was not provoked by other causes a significant proportion of the population has a detectable abnormality but most of these only develop thrombosis in the presence of an additional risk factor
thrombophilia sometimes hypercoagulability or a prothrombotic state is an abnormality of blood coagulation that increases the risk of thrombosis blood clots in blood vessels such abnormalities can be identified in 50 of people who have an episode of thrombosis such as deep vein thrombosis in the leg that was not provoked by other causes a significant proportion of the population has a detectable abnormality but most of these only develop thrombosis in the presence of an additional risk factor there is no specific treatment for most thrombophilias but recurrent episodes of thrombosis may be an indication for long term preventative anticoagulation the first major form of thrombophilia antithrombin deficiency was identified in 1965 while the most common abnormalities including factor v leiden were described in the 1990 s
antiphospholipid syndrome
antiphospholipid syndrome or antiphospholipid antibody syndrome aps or apls or often also hughes syndrome is an autoimmune hypercoagulable state caused by antiphospholipid antibodies aps provokes blood clots thrombosis in both arteries and veins as well as pregnancy related complications such as miscarriage stillbirth preterm delivery and severe preeclampsia
antiphospholipid syndrome or antiphospholipid antibody syndrome aps or apls or often also hughes syndrome is an autoimmune hypercoagulable state caused by antiphospholipid antibodies aps provokes blood clots thrombosis in both arteries and veins as well as pregnancy related complications such as miscarriage stillbirth preterm delivery and severe preeclampsia the diagnostic criteria require one clinical event i e thrombosis or pregnancy complication and two antibody blood tests spaced at least three months apart that confirm the presence of either lupus anticoagulant or anti β 2 glycoprotein i since β 2 glycoprotein i antibodies are a subset of anti cardiolipin antibodies an anti cardiolipin assay can be performed as a less specific proxy antiphospholipid syndrome can be primary or secondary primary antiphospholipid syndrome occurs in the absence of any other related disease secondary antiphospholipid syndrome occurs with other autoimmune diseases such as systemic lupus erythematosus sle in rare cases aps leads to rapid organ failure due to generalised thrombosis this is termed catastrophic antiphospholipid syndrome caps and is associated with a high risk of death antiphospholipid syndrome often requires treatment with anticoagulant medication such as heparin to reduce the risk of further episodes of thrombosis and improve the prognosis of pregnancy warfarin coumadin is not used during pregnancy because it can cross the placenta unlike heparin and is teratogenic
purpura
purpura is a condition of red or purple discolored spots on the skin that do not blanch on applying pressure the spots are caused by bleeding underneath the skin usually secondary to vasculitis or dietary deficiency of vitamin c scurvy they measure 0 3 – 1 cm 3 – 10 mm whereas petechiae measure less than 3 mm and ecchymoses greater than 1 cm
purpura is a condition of red or purple discolored spots on the skin that do not blanch on applying pressure the spots are caused by bleeding underneath the skin usually secondary to vasculitis or dietary deficiency of vitamin c scurvy they measure 0 3 – 1 cm 3 – 10 mm whereas petechiae measure less than 3 mm and ecchymoses greater than 1 cm purpura is common with typhus and can be present with meningitis caused by meningococci or septicaemia in particular meningococcus neisseria meningitidis a gram negative diplococcus organism releases endotoxin when it lyses endotoxin activates the hageman factor clotting factor xii which causes disseminated intravascular coagulation dic the dic is what appears as a rash on the affected individual
glanzmann s thrombasthenia
bernard – soulier syndrome
bernard – soulier syndrome bss also called hemorrhagiparous thrombocytic dystrophy is a rare autosomal recessive coagulopathy bleeding disorder that causes a deficiency of glycoprotein ib gpib the receptor for von willebrand factorthe incidence of bss is estimated to be less than 1 case per million persons based on cases reported from europe north america and japan bss is a giant platelet disorder meaning that it is characterized by abnormally large platelets
evans syndrome
evans syndrome is an autoimmune disease in which an individual s antibodies attack their own red blood cells and platelets both of these events may occur simultaneously or one may follow on from the other the syndrome was first described in 1951 by r s evans and colleagues
immune thrombocytopenic purpura
immune thrombocytopenia itp is a type of thrombocytopenic purpura defined as isolated low platelet count thrombocytopenia with normal bone marrow and the absence of other causes of thrombocytopenia it causes a characteristic purpuric rash and an increased tendency to bleed two distinct clinical syndromes manifest as an acute condition in children and a chronic condition in adults the acute form often follows an infection and has a spontaneous resolution within two months chronic immune thrombocytopenia persists longer than six months with a specific cause being unknown
immune thrombocytopenia itp is a type of thrombocytopenic purpura defined as isolated low platelet count thrombocytopenia with normal bone marrow and the absence of other causes of thrombocytopenia it causes a characteristic purpuric rash and an increased tendency to bleed two distinct clinical syndromes manifest as an acute condition in children and a chronic condition in adults the acute form often follows an infection and has a spontaneous resolution within two months chronic immune thrombocytopenia persists longer than six months with a specific cause being unknown itp is an autoimmune disease with antibodies detectable against several platelet surface antigens itp is diagnosed by a low platelet count in a complete blood count a common blood test however since the diagnosis depends on the exclusion of other causes of a low platelet count additional investigations such as a bone marrow biopsy may be necessary in some cases in mild cases only careful observation may be required but very low counts or significant bleeding may prompt treatment with corticosteroids intravenous immunoglobulin anti d immunoglobulin or immunosuppressive drugs refractory itp not responsive to conventional treatment may require splenectomy the surgical removal of the spleen platelet transfusions may be used in severe bleeding together with a very low count sometimes the body may compensate by making abnormally large platelets
heparin induced thrombocytopenia
heparin induced thrombocytopenia hit is the development of thrombocytopenia a low platelet count due to the administration of various forms of heparin an anticoagulant hit predisposes to thrombosis the abnormal formation of blood clots inside a blood vessel and when thrombosis is identified the condition is called heparin induced thrombocytopenia and thrombosis hitt hit is caused by the formation of abnormal antibodies that activate platelets if someone receiving heparin develops new or worsening thrombosis or if the platelet count falls hit can be confirmed with specific blood tests
kasabach – merritt syndrome
kasabach – merritt syndrome kms also known as hemangioma with thrombocytopenia is a rare disease usually of infants in which a vascular tumor leads to decreased platelet counts and sometimes other bleeding problems which can be life threatening it is also known as hemangioma thrombocytopenia syndrome it is named after haig haigouni kasabach and katharine krom merritt the two pediatricians who first described the condition in 1940
thrombocytopenia
bleeding diathesis
agranulocytosis
agranulocytosis also known as agranulosis or granulopenia is an acute condition involving a severe and dangerous leukopenia lowered white blood cell count most commonly of neutrophils causing a neutropenia in the circulating blood it is a severe lack of one major class of infection fighting white blood cells people with this condition are at very high risk of serious infections due to their suppressed immune system
leukopenia
neutropenia
neutropenia or neutropaenia is an abnormally low concentration of neutrophils a type of white blood cell in the blood neutrophils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria bacterial fragments and immunoglobulin bound viruses in the blood patients with neutropenia are more susceptible to bacterial infections and without prompt medical attention the condition may become life threatening neutropenic sepsis
neutropenia or neutropaenia is an abnormally low concentration of neutrophils a type of white blood cell in the blood neutrophils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria bacterial fragments and immunoglobulin bound viruses in the blood patients with neutropenia are more susceptible to bacterial infections and without prompt medical attention the condition may become life threatening neutropenic sepsis neutropenia can be acute temporary or chronic long lasting the term is sometimes used interchangeably with leukopenia deficit in the number of white blood cells
kostmann syndrome
kostmann syndrome is a group of diseases that affect myelopoiesis causing a congenital form of neutropenia severe congenital neutropenia scn usually without other physical malformations scn manifests in infancy with life threatening bacterial infections kostmann disease scn 3 the initial subtype recognized was clinically described in 1956 this type has an autosomal recessive inheritance pattern whereas the most common subtype of kostmann syndrome scn 1 shows autosomal dominant inheritance
kostmann syndrome is a group of diseases that affect myelopoiesis causing a congenital form of neutropenia severe congenital neutropenia scn usually without other physical malformations scn manifests in infancy with life threatening bacterial infections most cases of scn responds to treatment with granulocyte colony stimulating factor filgrastim which increases the neutrophil count and decreases the severity and frequency of infections although this treatment has significantly improved survival people with scn are at risk of long term complications such as hematopoietic clonal disorders myelodysplastic syndrome acute myeloid leukemia kostmann disease scn 3 the initial subtype recognized was clinically described in 1956 this type has an autosomal recessive inheritance pattern whereas the most common subtype of kostmann syndrome scn 1 shows autosomal dominant inheritance
chronic granulomatous disease
chronic granulomatous disease cgd also known as bridges – good syndrome chronic granulomatous disorder and quie syndrome is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds most importantly the superoxide radical due to defective phagocyte nadph oxidase used to kill certain ingested pathogens this leads to the formation of granulomata in many organs cgd affects about 1 in 200 000 people in the united states with about 20 new cases diagnosed each year
chronic granulomatous disease cgd also known as bridges – good syndrome chronic granulomatous disorder and quie syndrome is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds most importantly the superoxide radical due to defective phagocyte nadph oxidase used to kill certain ingested pathogens this leads to the formation of granulomata in many organs cgd affects about 1 in 200 000 people in the united states with about 20 new cases diagnosed each year this condition was first discovered in 1950 in a series of 4 boys from minnesota and in 1957 was named a fatal granulomatosus of childhood in a publication describing their disease the underlying cellular mechanism that causes chronic granulomatous disease was discovered in 1967 and research since that time has further elucidated the molecular mechanisms underlying the disease bernard babior made key contributions in linking the defect of superoxide production of white blood cells to the etiology of the disease in 1986 the x linked form of cgd was the first disease for which positional cloning was used to identify the underlying genetic mutation
brain tumor
a brain tumor or intracranial neoplasm occurs when abnormal cells form within the brain there are two main types of tumors malignant or cancerous tumors and benign tumors cancerous tumors can be divided into primary tumors that start within the brain and secondary tumors that have spread from somewhere else known as brain metastasis tumors all types of brain tumors may produce symptoms that vary depending on the part of the brain involved these symptoms may include headaches seizures problem with vision vomiting and mental changes the headache is classically worse in the morning and goes away with vomiting more specific problems may include difficulty in walking speaking and with sensation as the disease progresses unconsciousness may occur
a brain tumor or intracranial neoplasm occurs when abnormal cells form within the brain there are two main types of tumors malignant or cancerous tumors and benign tumors cancerous tumors can be divided into primary tumors that start within the brain and secondary tumors that have spread from somewhere else known as brain metastasis tumors all types of brain tumors may produce symptoms that vary depending on the part of the brain involved these symptoms may include headaches seizures problem with vision vomiting and mental changes the headache is classically worse in the morning and goes away with vomiting more specific problems may include difficulty in walking speaking and with sensation as the disease progresses unconsciousness may occur the cause of most brain tumors is unknown uncommon risk factors include inherited neurofibromatosis exposure to vinyl chloride epstein – barr virus and ionizing radiation the evidence for mobile phones is not clear the most common types of primary tumors in adults are meningiomas usually benign and astrocytomas such as glioblastomas in children the most common type is a malignant medulloblastoma diagnosis is usually by medical examination along with computed tomography or magnetic resonance imaging this is then often confirmed by a biopsy based on the findings the tumors are divided into different grades of severity treatment may include some combination of surgery radiation therapy and chemotherapy anticonvulsant medication may be needed if seizures occur dexamethasone and furosemide may be used to decrease swelling around the tumor some tumors grow gradually requiring only monitoring and possibly needing no further intervention treatments that use a person s immune system are being studied outcome varies considerably depending on the type of tumor and how far it has spread at diagnosis glioblastomas usually have poor outcomes while meningiomas usually have good outcomes the average five year survival rate for brain cancer in the united states is 33 secondary or metastatic brain tumors are more common than primary brain tumors with about half of metastases coming from lung cancer primary brain tumors occur in around 250 000 people a year globally making up less than 2 of cancers in children younger than 15 brain tumors are second only to acute lymphoblastic leukemia as a cause of cancer in australia the average economic cost of a case of brain cancer is 1 9 million the greatest of any type of cancer
pelger – huet anomaly
may – hegglin anomaly
may – hegglin anomaly mha also known as dohle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions is a rare genetic disorder of the blood platelets that causes them to be abnormally large
eosinophilia
eosinophilia is a condition in which the eosinophil count in the peripheral blood exceeds 4 5 × 108 l 450 µl eosinophils usually account for less than 7 of the circulating leukocytes a marked increase in non blood tissue eosinophil count noticed upon histopathologic examination is diagnostic for tissue eosinophilia several causes are known with the most common being some form of allergic reaction or parasitic infection diagnosis of eosinophilia is via a complete blood count cbc but diagnostic procedures directed at the underlying cause vary depending on the suspected condition s an absolute eosinophil count is not generally needed if the cbc shows marked eosinophilia the location of the causal factor can be used to classify eosinophilia into two general types extrinsic in whi
hypereosinophilic syndrome
the hypereosinophilic syndrome hes is a disease characterized by a persistently elevated eosinophil count ≥ 1500 eosinophils mm ³ in the blood for at least six months without any recognizable cause with involvement of either the heart nervous system or bone marrow hes is a diagnosis of exclusion after clonal eosinophilia such as leukemia and reactive eosinophilia in response to infection autoimmune disease atopy hypoadrenalism tropical eosinophilia or cancer have been ruled out
leukocytosis
leukocytosis is white cells the leukocyte count above the normal range in the blood it is frequently a sign of an inflammatory response most commonly the result of infection but may also occur following certain parasitic infections or bone tumors it may also occur after strenuous exercise convulsions such as epilepsy emotional stress pregnancy and labour anesthesia and epinephrine administration there are five principal types of leukocytosis 1 neutrophilia the most common form 2 lymphocytosis 3 monocytosis 4 eosinophilia 5 basophilia
leukocytosis is white cells the leukocyte count above the normal range in the blood it is frequently a sign of an inflammatory response most commonly the result of infection but may also occur following certain parasitic infections or bone tumors it may also occur after strenuous exercise convulsions such as epilepsy emotional stress pregnancy and labour anesthesia and epinephrine administration there are five principal types of leukocytosis 1 neutrophilia the most common form 2 lymphocytosis 3 monocytosis 4 eosinophilia 5 basophilia this increase in leukocyte primarily neutrophils is usually accompanied by a left shift in the ratio of immature to mature neutrophils the proportion of immature leukocytes increases due to proliferation and release of granulocyte and monocyte precursors in the bone marrow which is stimulated by several products of inflammation including c 3 a and g csf although it may indicate illness leukocytosis is considered a laboratory finding instead of a separate disease this classification is similar to that of fever which is also a test result instead of a disease right shift in the ratio of immature to mature neutrophils is considered with reduced count or lack of young neutrophils metamyelocytes and band neutrophils in blood smear associated with the presence of giant neutrophils this fact shows suppression of bone marrow activity as a hematological sign specific for pernicious anemia and radiation sickness a leukocyte count above 25 to 30 x 109 l is termed a leukemoid reaction which is the reaction of a healthy bone marrow to extreme stress trauma or infection it is different from leukemia and from leukoerythroblastosis in which either immature white blood cells acute leukemia or mature yet non functional white blood cells chronic leukemia are present in peripheral blood
lymphocytosis
lymphocytosis is an increase in the number of lymphocytes in the blood in adults lymphocytosis is present when the lymphocyte count is greater than 4000 per microliter 4 0 x 10 9 l in older children greater than 7000 per microliter and in infants greater than 9000 per microliter lymphocytes normally represent 20 to 40 of circulating white blood cells
lymphocytosis is an increase in the number of lymphocytes in the blood in adults lymphocytosis is present when the lymphocyte count is greater than 4000 per microliter 4 0 x 10 9 l in older children greater than 7000 per microliter and in infants greater than 9000 per microliter lymphocytes normally represent 20 to 40 of circulating white blood cells lymphocytosis is usually detected when a complete blood count is obtained if not provided the lymphocyte count can be calculated by multiplying the total white blood cell wbc count by the percentage of lymphocytes found in the differential count the lymphocyte count can also be directly measured by flow cytometry
monocytosis
asplenia
asplenia refers to the absence of normal spleen function and is associated with some serious infection risks hyposplenism is used to describe reduced hypo splenic functioning but not as severely affected as with asplenism
splenic infarction
splenic infarction is a condition in which oxygen supply to the spleen is interrupted leading to partial or complete infarction tissue death due to oxygen shortage in the organ splenic infarction occurs when the splenic artery or one of its branches are occluded for example by a blood clot although it can occur asymptomatically the typical symptom is severe pain in the left upper quadrant of the abdomen sometimes radiating to the left shoulder fever and chills develop in some cases it has to be differentiated from other causes of acute abdomen
methemoglobinemia
methemoglobinemia or methaemoglobinaemia is a disorder characterized by the presence of a higher than normal level of methemoglobin methb i e ferric fe 3 rather than ferrous fe 2 haemoglobin in the blood methemoglobin is a form of hemoglobin that contains ferric fe 3 iron and has a decreased ability to bind oxygen however the ferrous iron has an increased affinity for bound oxygen the binding of oxygen to methemoglobin results in an increased affinity of oxygen to the three other heme sites that are still ferrous within the same tetrameric hemoglobin unit this leads to an overall reduced ability of the red blood cell to release oxygen to tissues with the associated oxygen – hemoglobin dissociation curve therefore shifted to the left when methemoglobin concentration is e
sulfhemoglobinemia
sulfhemoglobinemia or sulfhaemoglobinaemia is a rare condition in which there is excess sulfhemoglobin sulfhb in the blood the pigment is a greenish derivative of hemoglobin which cannot be converted back to normal functional hemoglobin it causes cyanosis even at low blood levels it is a rare blood condition that occurs when a sulfur atom is incorporated into the hemoglobin molecule when hydrogen sulfide h 2 s or sulfide ions and ferric ions combine in the blood the blood is incapable of carrying oxygen
polycythemia
polycythemia also known as polycythaemia or polyglobulia is a disease state in which the proportion of blood volume that is occupied by red blood cells increases blood volume proportions can be measured as hematocrit level a hematocrit of 55 is seen in polycythemia
essential thrombocytosis
essential thrombocytosis et also known as essential thrombocythemia essential thrombocythaemia primary thrombocytosis is a rare chronic blood disorder characterised by the overproduction of platelets by megakaryocytes in the bone marrow it may albeit rarely develop into acute myeloid leukaemia or myelofibrosis it is one of four myeloproliferative disorders disorders characterised by increased production of a particular line of blood cell
basophilia
macrocytosis
hemophagocytic lymphohistiocytosis
hemophagocytic lymphohistiocytosis hlh also known as haemophagocytic lymphohistiocytosis british spelling and hemophagocytic or haemophagocytic syndrome is an uncommon hematologic disorder it is a life threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages characterised by proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines it is classified as one of the cytokine storm syndromes
rosai – dorfman disease
rosai – dorfman disease also known as sinus histiocytosis with massive lymphadenopathy is a rare disorder of unknown etiology that is characterized by abundant histiocytes in the lymph nodes throughout the body
x linked agammaglobulinemia
x linked agammaglobulinemia also called x linked hypogammaglobulinemia xla bruton type agammaglobulinemia bruton syndrome or sex linked agammaglobulinemia is a rare x linked genetic disorder discovered in 1952 that affects the body s ability to fight infection xla is an x linked disorder and therefore is much more common in males xla patients do not generate mature b cells which manifests as a complete lack of antibodies in their bloodstream b cells are part of the immune system and normally manufacture antibodies called immunoglobulins which defend the body from infections by sustaining an immunological humoral antibody response patients with untreated xla are prone to develop serious and even fatal infections a mutation occurs at the bruton s tyrosine kinase btk gene th
selective immunoglobulin a deficiency
selective immunoglobulin a iga deficiency sigad is a genetic immunodeficiency people with this deficiency lack immunoglobulin a iga a type of antibody that protects against infections of the mucous membranes lining the mouth airways and digestive tract it is defined as an undetectable serum iga level in the presence of normal serum levels of igg and igm it is the most common of the primary antibody deficiencies
hyper igm syndrome type 1
hyper igm syndrome type 1 higm 1 is the x linked variant of the hyper igm syndrome the affected individuals are virtually always male because males only have one x chromosome received from their mothers their mothers are not symptomatic even though they are carriers of the allele because the trait is recessive male offspring of these women have a 50 chance of inheriting their mother s mutant allele
hyper igm syndrome
hyper igm syndromes is a group of primary immune deficiency disorders characterized by defective cd 40 signaling by b cells affecting class switch recombination and somatic hypermutation immunoglobulin ig class switch recombination deficiencies csr ds which were previously named dysgammaglobulinemia and then hyper igm syndromes are characterized by elevated or sometimes normal serum immunoglobulin m igm levels and a considerable decrease in or the absence of immunoglobulin g igg immunoglobulin a iga and immunoglobulin e ige – suggesting defective csr as a consequence patients with higm have decreased concentrations of serum igg and iga and normal or elevated igm leading to increased susceptibility to infections the most common higm syndrome is x linked and due to
hyper igm syndrome type 3
hyper igm syndrome type 3 is a form of hyper igm syndrome characterized by mutations of the cd 40 gene in this type immature b cells cannot receive signal 2 from helper t cells which is necessary to mature into mature b cells
hyper igm syndrome type 4
hyper igm syndrome type 4 is a form of hyper igm syndrome which is a defect in class switch recombination downstream of the aicda gene that does not impair somatic hypermutation
severe combined immunodeficiency
severe combined immunodeficiency scid also known as alymphocytosis glanzmann – riniker syndrome severe mixed immunodeficiency syndrome and thymic alymphoplasia is an extremely rare genetic disorder characterized by the disturbed development of functional t cells and b cells caused by numerous genetic mutations that result in heterogeneous clinical presentations scid involves defective antibody response due to either direct involvement with b lymphocytes or through improper b lymphocyte activation due to non functional t helper cells consequently both arms b cells and t cells of the adaptive immune system are impaired due to a defect in one of several possible genes scid is the most severe form of primary immunodeficiencies and there are now at least nine different known genes
severe combined immunodeficiency scid also known as alymphocytosis glanzmann – riniker syndrome severe mixed immunodeficiency syndrome and thymic alymphoplasia is an extremely rare genetic disorder characterized by the disturbed development of functional t cells and b cells caused by numerous genetic mutations that result in heterogeneous clinical presentations scid involves defective antibody response due to either direct involvement with b lymphocytes or through improper b lymphocyte activation due to non functional t helper cells consequently both arms b cells and t cells of the adaptive immune system are impaired due to a defect in one of several possible genes scid is the most severe form of primary immunodeficiencies and there are now at least nine different known genes in which mutations lead to a form of scid it is also known as the bubble baby disease and bubble boy disease because its victims are extremely vulnerable to infectious diseases and some of them such as david vetter have become famous for living in a sterile environment scid is the result of an immune system so highly compromised that it is considered almost absent scid patients are usually affected by severe bacterial viral or fungal infections early in life and often present with interstitial lung disease chronic diarrhea and failure to thrive ear infections recurrent pneumocystis jirovecii previously carinii pneumonia and profuse oral candidiasis commonly occur these babies if untreated usually die within 1 year due to severe recurrent infections unless they have undergone successful hematopoietic stem cell transplantation
x linked severe combined immunodeficiency
wiskott – aldrich syndrome
wiskott – aldrich syndrome was is a rare x linked recessive disease characterized by eczema thrombocytopenia low platelet count immune deficiency and bloody diarrhea secondary to the thrombocytopenia it is also sometimes called the eczema thrombocytopenia immunodeficiency syndrome in keeping with aldrich s original description in 1954 the was related disorders of x linked thrombocytopenia xlt and x linked congenital neutropenia xln may present similar but less severe symptoms and are caused by mutations of the same gene
digeorge syndrome
digeorge syndrome also known as 22 q 11 2 deletion syndrome is a syndrome caused by the deletion of a small segment of chromosome 22 digeorge syndrome is the most common microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22 q 11 2 — signifying its location on the long arm of one of the pair of chromosomes 22 on region 1 band 1 sub band 2 the inheritance pattern is autosomal dominant and it has a prevalence estimated at 1 4000 the syndrome was described in 1968 by the pediatric endocrinologist angelo digeorge 22 q 11 deletion is also associated with truncus arteriosus and tetralogy of fallot
x linked lymphoproliferative disease
x linked lymphoproliferative disease also known as duncan s disease or purtilo syndrome is a lymphoproliferative disorder
hyperimmunoglobulin e syndrome
hyperimmunoglobulinemia e syndrome hies of which the autosomal dominant form is called job s syndrome or buckley syndrome is a heterogeneous group of immune disorders
common variable immunodeficiency
common variable immunodeficiency cvid is an immune disorder characterized by recurrent infections and low antibody levels specifically in immunoglobulin ig types igg igm and iga generally symptoms include high susceptibility to foreign invaders chronic lung disease and inflammation and infection of the gastrointestinal tract however symptoms vary greatly between people cvid is a lifelong disease
common variable immunodeficiency cvid is an immune disorder characterized by recurrent infections and low antibody levels specifically in immunoglobulin ig types igg igm and iga generally symptoms include high susceptibility to foreign invaders chronic lung disease and inflammation and infection of the gastrointestinal tract however symptoms vary greatly between people cvid is a lifelong disease the origins of cvid is poorly understood current research points to deletions in particular genetic markers encoding cell surface proteins and cytokine receptors such as cd 19 cd 20 cd 21 and cd 80 as a likely cause a deletion is a mutation in which part of the chromosome is lost during dna replication additionally the disease is defined by t cell defects namely reduced proliferative capacity the disease is hard to diagnose taking on average 6 – 7 years after onset cvid is a primary immunodeficiency treatment options are limited and usually include lifelong immunoglobulin replacement therapy this therapy is thought to help reduce bacterial infections this treatment alone is not wholly effective and many people still experience other symptoms like lung disease and noninfectious inflammatory symptoms cvid was first diagnosed over 60 years ago and since has emerged as the predominant class of primary antibody deficiencies cvid is formally diagnosed by levels of igg and iga more than two standard deviations from the norm and no other cause for hypogammaglobulinemia an abnormally low level of immunoglobulins in the blood it is thought to affect between 1 in 25 000 to 1 in 50 000 people worldwide
hereditary angioedema
hereditary angioedema hae is a rare autosomal dominantly inherited blood disorder that causes episodic attacks of swelling that may affect the face extremities genitals gastrointestinal tract and upper airways in this form of angioedema swellings of the intestinal mucous membrane may lead to vomiting and painful colic like intestinal spasms that may mimic intestinal obstruction airway edema may be life threatening episodes may be triggered by trauma surgery dental work menstruation some medications viral illness and stress however this is not always readily determined this disorder affects approximately one in 10 000 – 50 000 people
angioedema
immunodeficiency
immunodeficiency or immune deficiency is a state in which the immune system s ability to fight infectious disease is compromised or entirely absent most cases of immunodeficiency are acquired secondary due to extrinsic factors that affect the patient s immune system examples of these extrinsic factors include infections such as by human immunodeficiency virus hiv extremes of age and environmental factors such as nutrition in the clinical setting the immuno suppression quality of some drugs such as steroids can be utilised examples of such use is in transplant surgery as an anti rejection measure and in patients suffering from an over active immune system some people are born with defects in their immune system or primary immunodeficiency a person who has an immunodefic
autoimmune disease
an autoimmune disease is a condition arising from an abnormal immune response to a normal body part there are at least 80 types of autoimmune diseases nearly any body part can be involved commons symptoms include low grade fever and feeling tired often symptoms come and go treatment depends on the type and severity of the condition nonsteroidal anti inflammatory drugs nsaids and immunosuppressants are often used intravenous immunoglobulin may also occasionally be used while treatment usually improves symptoms they do not typically cure the disease
sarcoidosis
sarcoidosis is a disease involving abnormal collections of inflammatory cells that form lumps known as granulomas the disease usually begins in the lungs skin or lymph nodes less commonly affected are the eyes liver heart and brain any organ however can be affected the signs and symptoms depend on the organ involved often there are no or only mild symptoms when it affects the lungs there may be wheezing cough shortness of breath or chest pain some may have lofgren s syndrome in which there is fever large lymph nodes arthritis and a rash known as erythema nodosum
sarcoidosis is a disease involving abnormal collections of inflammatory cells that form lumps known as granulomas the disease usually begins in the lungs skin or lymph nodes less commonly affected are the eyes liver heart and brain any organ however can be affected the signs and symptoms depend on the organ involved often there are no or only mild symptoms when it affects the lungs there may be wheezing cough shortness of breath or chest pain some may have lofgren s syndrome in which there is fever large lymph nodes arthritis and a rash known as erythema nodosum the cause of sarcoidosis is unknown some believe it may be due to an immune reaction to a trigger such as an infection or chemicals in those who are genetically predisposed those with affected family members are at greater risk diagnosis is partly based on signs and symptoms which may be supported by biopsy findings that make it likely include large lymph nodes at the root of the lung on both sides high blood calcium with a normal parathyroid hormone level or elevated levels of angiotensin converting enzyme ace in the blood the diagnosis should only be made after excluding other possible causes of similar symptoms such as tuberculosis many people clear up without any treatment within a few years however some may have long term or severe disease some symptoms may be improved with the use of anti inflammatory drugs such as ibuprofen in cases where the condition causes significant health problems steroids such as prednisone are indicated alternatively medications such as methotrexate chloroquine or azathioprine may occasionally be used in an effort to decrease the side effects of steroids the risk of death is between one and seven percent there is a less than five percent chance of the disease returning in someone who has had it previously in 2013 pulmonary sarcoidosis and interstitial lung disease affected 595 000 people globally these two diseases resulted in 471 000 deaths it is most common in scandinavians but occurs in all parts of the world in the united states risk is greater among black as opposed to white people it usually begins between the ages of 20 – 50 it occurs more often in women than men sarcoidosis was first described in 1877 by the english doctor jonathan hutchinson as a non painful skin disease
lupus pernio
cryoglobulinemia
cryoglobulinemia or cryoglobulinaemia is a medical condition in which the blood contains large amounts of cryoglobulins – proteins mostly immunoglobulins themselves that become insoluble at reduced temperatures this should be contrasted with cold agglutinins which cause agglutination of red blood cells cryoglobulins typically precipitate at temperatures below normal body temperature 37 ° c and will dissolve again if the blood is heated the precipitated clump can block blood vessels and cause toes and fingers to become gangrenous cryoglobulinemia can be associated with various diseases such as multiple myeloma and hepatitis c infection cryoglobulins usually consist of igm directed against the fc region of igg
cretinism
cretinism is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormone congenital hypothyroidism usually due to maternal hypothyroidism
congenital hypothyroidism
congenital hypothyroidism ch is a condition of thyroid hormone deficiency present at birth approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function while even more have mild or partial degrees if untreated for several months after birth severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability treatment consists of a daily dose of thyroid hormone thyroxine by mouth because the treatment is simple effective and inexpensive nearly all of the developed world practices newborn screening to detect and treat congenital hypothyroidism in the first weeks of life
iodine deficiency
iodine deficiency is a lack of the trace element iodine an essential nutrient in the diet it may result in a goiter sometimes as an endemic goiter as well as cretinism due to untreated congenital hypothyroidism which results in developmental delays and other health problems iodine deficiency is an important public health issue as it is a preventable cause of intellectual disability iodine deficiency resulting in goiter occurs in 187 million people globally as of 2010 2 7 of the population it resulted in 2700 deaths in 2013 up from 2100 deaths in 1990
goitre
endemic goitre
myxedema coma
myxedema coma is a state of decompensated hypothyroidism a person may have lab values identical to a normal hypothyroid state but a stressful event such as an infection myocardial infarction or stroke precipitates the myxedema coma state usually in the elderly primary symptoms of myxedema coma are altered mental status and low body temperature low blood sugar low blood pressure hyponatremia hypercapnia hypoxia slowed heart rate and hypoventilation may also occur myxedema although included in the name is not necessarily seen in myxedema coma
myxedema
myxedema or myxoedema is a term used synonymously with severe hypothyroidism however the term is also used to describe a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism in this context myxedema refers to deposition of mucopolysaccharides in the dermis which results in swelling of the affected area one manifestation of myxedema occurring in the lower limb is pretibial myxedema a hallmark of graves disease an autoimmune form of hyperthyroidism myxedema can also occur in hashimoto s thyroiditis and other long standing forms of hypothyroidism
myxedema or myxoedema is a term used synonymously with severe hypothyroidism however the term is also used to describe a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism in this context myxedema refers to deposition of mucopolysaccharides in the dermis which results in swelling of the affected area one manifestation of myxedema occurring in the lower limb is pretibial myxedema a hallmark of graves disease an autoimmune form of hyperthyroidism myxedema can also occur in hashimoto s thyroiditis and other long standing forms of hypothyroidism the word myxedema originates from μύξα taken from ancient greek to convey mucus or slimy substance and ὁοίδημα for swelling it can also be thought as nonpitting edema in contrast to pitting edema
hypothyroidism
hypothyroidism also called underactive thyroid or low thyroid is a common disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone it can cause a number of symptoms such as poor ability to tolerate cold a feeling of tiredness constipation depression and weight gain occasionally there may be swelling of the front part of the neck due to goitre untreated hypothyroidism during pregnancy can lead to delays in growth and intellectual development in the baby which is called cretinism
hypothyroidism also called underactive thyroid or low thyroid is a common disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone it can cause a number of symptoms such as poor ability to tolerate cold a feeling of tiredness constipation depression and weight gain occasionally there may be swelling of the front part of the neck due to goitre untreated hypothyroidism during pregnancy can lead to delays in growth and intellectual development in the baby which is called cretinism worldwide too little iodine in the diet is the most common cause of hypothyroidism in countries with enough iodine in the diet the most common cause of hypothyroidism is the autoimmune condition hashimoto s thyroiditis less common causes include previous treatment with radioactive iodine injury to the hypothalamus or the anterior pituitary gland certain medications a lack of a functioning thyroid at birth or previous thyroid surgery the diagnosis of hypothyroidism when suspected can be confirmed with blood tests measuring thyroid stimulating hormone tsh and thyroxine levels prevention at the population level has been with the universal salt iodization hypothyroidism can be treated with levothyroxine the dose is adjusted according to symptoms and normalization of the thyroxine and tsh levels thyroid medication is safe in pregnancy while a certain amount of dietary iodine is important excessive amounts can worsen certain types of hypothyroidism worldwide about one billion people are estimated to be iodine deficient however it is unknown how often this results in hypothyroidism in the united states hypothyroidism occurs in 0 3 – 0 4 of people subclinical hypothyroidism a milder form of hypothyroidism characterized by normal thyroxine levels and an elevated tsh level is thought to occur in 4 3 – 8 5 of people in the united states hypothyroidism is more common in women than men people over the age of 60 are more commonly affected dogs are also known to develop hypothyroidism and in rare cases cats and horses can also have the disorder the word hypothyroidism is from greek hypo meaning reduced thyreos for shield and eidos for form
thyroid nodule
thyroid nodules are lumps which commonly arise within an otherwise normal thyroid gland they indicate a thyroid neoplasm but only a small percentage of these are thyroid cancers
hyperthyroidism
hyperthyroidism is the condition that occurs due to excessive production of thyroid hormone by the thyroid gland thyrotoxicosis is the condition that occurs due to excessive thyroid hormone of any cause and therefore includes hyperthyroidism some however use the terms interchangeably signs and symptoms vary between people and may include irritability muscle weakness sleeping problems a fast heartbeat heat intolerance diarrhea enlargement of the thyroid and weight loss symptoms are typically less in the old and during pregnancy an uncommon complication is thyroid storm in which an event such as an infection results in worsening symptoms such as confusion and a high temperature and often results in death the opposite is hypothyroidism when the thyroid gland does not make enou
hyperthyroidism is the condition that occurs due to excessive production of thyroid hormone by the thyroid gland thyrotoxicosis is the condition that occurs due to excessive thyroid hormone of any cause and therefore includes hyperthyroidism some however use the terms interchangeably signs and symptoms vary between people and may include irritability muscle weakness sleeping problems a fast heartbeat heat intolerance diarrhea enlargement of the thyroid and weight loss symptoms are typically less in the old and during pregnancy an uncommon complication is thyroid storm in which an event such as an infection results in worsening symptoms such as confusion and a high temperature and often results in death the opposite is hypothyroidism when the thyroid gland does not make enough thyroid hormone graves disease is the cause of about 50 to 80 of the cases of hyperthyroidism in the united states other causes include multinodular goiter toxic adenoma inflammation of the thyroid eating too much iodine and too much synthetic thyroid hormone a less common cause is a pituitary adenoma the diagnosis may be suspected based on signs and symptoms and then confirmed with blood tests typically blood tests show a low thyroid stimulating hormone tsh and raised t 3 or t 4 radioiodine uptake by the thyroid thyroid scan and tsi antibodies may help determine the cause treatment depends partly on the cause and severity of disease there are three main treatment options radioiodine therapy medications and thyroid surgery radioiodine therapy involves taking iodine 131 by mouth which is then concentrated in and destroys the thyroid over weeks to months the resulting hypothyroidism is treated with synthetic thyroid hormone medications such as beta blockers may control the symptoms and anti thyroid medications such as methimazole may temporarily help people while other treatments are having effect surgery to remove the thyroid is another option this may be used in those with very large thyroids or when cancer is a concern in the united states hyperthyroidism affects about 1 2 of the population it occurs between two and ten times more often in women onset is commonly between 20 and 50 years of age overall the disease is more common in those over the age of 60 years
graves disease
graves disease also known as toxic diffuse goiter is an autoimmune disease that affects the thyroid it frequently results in and is the most common cause of hyperthyroidism it also often results in an enlarged thyroid signs and symptoms of hyperthyroidism may include irritability muscle weakness sleeping problems a fast heartbeat poor tolerance of heat diarrhea and weight loss other symptoms may include thickening of the skin on the shins known as pretibial myxedema and eye bulging a condition caused by graves ophthalmopathy about 25 to 80 of people with the condition develop eye problems
graves disease also known as toxic diffuse goiter is an autoimmune disease that affects the thyroid it frequently results in and is the most common cause of hyperthyroidism it also often results in an enlarged thyroid signs and symptoms of hyperthyroidism may include irritability muscle weakness sleeping problems a fast heartbeat poor tolerance of heat diarrhea and weight loss other symptoms may include thickening of the skin on the shins known as pretibial myxedema and eye bulging a condition caused by graves ophthalmopathy about 25 to 80 of people with the condition develop eye problems the exact cause is unclear however it is believed to involve a combination of genetic and environmental factors a person is more likely to be affected if they have a family member with the disease if one twin is affected there is a 30 chance the other twin will also have the disease the onset of disease may be triggered by stress infection or giving birth those with other autoimmune diseases such as type 1 diabetes and rheumatoid arthritis are more likely to be affected smoking increases the risk of disease and may worsen eye problems the disorder results from an antibody called thyroid stimulating immunoglobulin tsi that has a similar effect to thyroid stimulating hormone tsh these tsi antibodies cause the thyroid gland to produce excess thyroid hormone the diagnosis may be suspected based on symptoms and confirmed with blood tests and radioiodine uptake typically blood tests show a raised t 3 and t 4 low tsh increased radioiodine uptake in all areas of the thyroid and tsi antibodies there are three treatment options radioiodine therapy medications and thyroid surgery radioiodine therapy involves taking iodine 131 by mouth which is then concentrated in and destroys the thyroid over weeks to months the resulting hypothyroidism is treated with synthetic thyroid hormone medications such as beta blockers may control some of the symptoms and anti thyroid medications such as methimazole may temporarily help people while other treatments are having effect surgery to remove the thyroid is another option eye problems may require additional treatments graves disease will develop in about 0 5 of males and 3 of females it occurs about 7 5 times more often in women than men often it starts between the ages of 40 and 60 but can begin at any age it is the most common cause of hyperthyroidism in the united states about 50 to 80 of cases the condition is named after robert graves who described it in 1835 a number of prior descriptions also exist
thyroiditis
thyroiditis is the inflammation of the thyroid gland the thyroid gland is located on the front of the neck below the laryngeal prominence and makes hormones that control metabolism
de quervain s thyroiditis
autoimmune thyroiditis
autoimmune thyroiditis or chronic autoimmune thyroiditis is a disease in which the body interprets the thyroid glands and its hormone products t 3 t 4 and tsh as threats therefore producing special antibodies that target the thyroid ’ s cells thereby destroying it it presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters
riedel s thyroiditis
thyroid hormone resistance
pendred syndrome
euthyroid sick syndrome
euthyroid sick syndrome ess sick euthyroid syndrome ses thyroid allostasis in critical illness tumours uremia and starvation tacitus non thyroidal illness syndrome ntis or low t 3 low t 4 syndrome is a state of adaptation or dysregulation of thyrotropic feedback control where the levels of t 3 and or t 4 are at unusual levels but the thyroid gland does not appear to be dysfunctional
euthyroid sick syndrome ess sick euthyroid syndrome ses thyroid allostasis in critical illness tumours uremia and starvation tacitus non thyroidal illness syndrome ntis or low t 3 low t 4 syndrome is a state of adaptation or dysregulation of thyrotropic feedback control where the levels of t 3 and or t 4 are at unusual levels but the thyroid gland does not appear to be dysfunctional this condition is often seen in starvation critical illness or patients in intensive care unit the most common hormone pattern in sick euthyroid syndrome is a low total and unbound t 3 levels with normal t 4 and tsh levels
diabetic coma
diabetic coma is a reversible form of coma found in people with diabetes mellitus it is a medical emergency three different types of diabetic coma are identified 1 severe low blood sugar in a diabetic person 2 diabetic ketoacidosis usually type 1 advanced enough to result in unconsciousness from a combination of a severely increased blood sugar level dehydration and shock and exhaustion 3 hyperosmolar nonketotic coma usually type 2 in which an extremely high blood sugar level and dehydration alone are sufficient to cause unconsciousness
diabetic nephropathy
diabetic nephropathy or diabetic kidney disease is a progressive kidney disease caused by damage to the capillaries in the kidneys glomeruli it is characterized by nephrotic syndrome and diffuse scarring of the glomeruli it is due to longstanding diabetes mellitus and is a prime reason for dialysis in many developed countries it is classified as a small blood vessel complication of diabetes
diabetic angiopathy
diabetes mellitus
diabetes mellitus dm commonly referred to as diabetes is a group of metabolic diseases in which there are high blood sugar levels over a prolonged period symptoms of high blood sugar include frequent urination increased thirst and increased hunger if left untreated diabetes can cause many complications acute complications can include diabetic ketoacidosis nonketotic hyperosmolar coma or death serious long term complications include heart disease stroke chronic kidney failure foot ulcers and damage to the eyes
diabetes mellitus dm commonly referred to as diabetes is a group of metabolic diseases in which there are high blood sugar levels over a prolonged period symptoms of high blood sugar include frequent urination increased thirst and increased hunger if left untreated diabetes can cause many complications acute complications can include diabetic ketoacidosis nonketotic hyperosmolar coma or death serious long term complications include heart disease stroke chronic kidney failure foot ulcers and damage to the eyes diabetes is due to either the pancreas not producing enough insulin or the cells of the body not responding properly to the insulin produced there are three main types of diabetes mellitus type 1 dm results from the pancreas s failure to produce enough insulin this form was previously referred to as insulin dependent diabetes mellitus iddm or juvenile diabetes the cause is unknown type 2 dm begins with insulin resistance a condition in which cells fail to respond to insulin properly as the disease progresses a lack of insulin may also develop this form was previously referred to as non insulin dependent diabetes mellitus niddm or adult onset diabetes the primary cause is excessive body weight and not enough exercise gestational diabetes is the third main form and occurs when pregnant women without a previous history of diabetes develop high blood sugar levels prevention and treatment involve maintaining a healthy diet regular physical exercise a normal body weight and avoiding use of tobacco control of blood pressure and maintaining proper foot care are important for people with the disease type 1 dm must be managed with insulin injections type 2 dm may be treated with medications with or without insulin insulin and some oral medications can cause low blood sugar weight loss surgery in those with obesity is sometimes an effective measure in those with type 2 dm gestational diabetes usually resolves after the birth of the baby as of 2015 an estimated 415 million people had diabetes worldwide with type 2 dm making up about 90 of the cases this represents 8 3 of the adult population with equal rates in both women and men as of 2014 trends suggested the rate would continue to rise diabetes at least doubles a person s risk of early death from 2012 to 2015 approximately 1 5 to 5 0 million deaths each year resulted from diabetes the global economic cost of diabetes in 2014 was estimated to be us 612 billion in the united states diabetes cost 245 billion in 2012
hyperinsulinism
hyperinsulinism refers to an above normal level of insulin in the blood of a person or animal normal insulin secretion and blood levels are closely related to the level of glucose in the blood so that a given level of insulin can be normal for one blood glucose level but low or high for another hyperinsulinism can be associated with several types of medical problems which can be roughly divided into two broad and largely non overlapping categories those tending toward reduced sensitivity to insulin and high blood glucose levels hyperglycemia and those tending toward excessive insulin secretion and low glucose levels hypoglycemia
hypoglycemia
hypoglycemia also known as low blood sugar is when blood sugar decreases to below normal levels this may result in a variety of symptoms including clumsiness trouble talking confusion loss of consciousness seizures or death a feeling of hunger sweating shakiness and weakness may also be present symptoms typically come on quickly
hypoglycemia also known as low blood sugar is when blood sugar decreases to below normal levels this may result in a variety of symptoms including clumsiness trouble talking confusion loss of consciousness seizures or death a feeling of hunger sweating shakiness and weakness may also be present symptoms typically come on quickly the most common cause of hypoglycemia is medications used to treat diabetes mellitus such as insulin and sulfonylureas risk is greater in diabetics who have eaten less than usual exercised more than usual or have drunk alcohol other causes of hypoglycemia include kidney failure certain tumors such as insulinoma liver disease hypothyroidism starvation inborn error of metabolism severe infections reactive hypoglycemia and a number of drugs including alcohol low blood sugar may occur in babies who are otherwise healthy who have not eaten for a few hours the glucose level that defines hypoglycemia is variable in people with diabetes levels below 3 9 mmol l 70 mg dl is diagnostic in adults without diabetes symptoms related to low blood sugar low blood sugar at the time of symptoms and improvement when blood sugar is restored to normal confirm the diagnosis otherwise a level below 2 8 mmol l 50 mg dl after not eating or following exercise may be used in newborns a level below 2 2 mmol l 40 mg dl or less than 3 3 mmol l 60 mg dl if symptoms are present indicates hypoglycemia other tests that may be useful in determining the cause include insulin and c peptide levels in the blood hyperglycemia high blood sugar is the opposite condition among people with diabetes prevention is by matching the foods eaten with the amount of exercise and the medications used when people feel their blood sugar is low testing with a glucose monitor is recommended some people have few initial symptoms of low blood sugar and frequent routine testing in this group is recommended treatment of hypoglycemia is by eating foods high in simple sugars or taking dextrose if a person is not able to take food by mouth an injection of glucagon may help the treatment of hypoglycemia unrelated to diabetes include treating the underlying problem as well and a healthy diet the term hypoglycemia is sometimes incorrectly used to refer to idiopathic postprandial syndrome a controversial condition with similar symptoms that occur following eating but with normal blood sugar levels
reactive hypoglycemia
reactive hypoglycemia or postprandial hypoglycemia is a medical term describing recurrent episodes of symptomatic hypoglycemia occurring within 4 hours after a high carbohydrate meal in people who do not have diabetes it is thought to represent a consequence of excessive insulin release triggered by the carbohydrate meal but continuing past the digestion and disposal of the glucose derived from the meal
reactive hypoglycemia or postprandial hypoglycemia is a medical term describing recurrent episodes of symptomatic hypoglycemia occurring within 4 hours after a high carbohydrate meal in people who do not have diabetes it is thought to represent a consequence of excessive insulin release triggered by the carbohydrate meal but continuing past the digestion and disposal of the glucose derived from the meal the prevalence of this condition is difficult to ascertain because a number of stricter or looser definitions have been used it is recommended that the term reactive hypoglycemia be reserved for the pattern of postprandial hypoglycemia which meets the whipple criteria symptoms correspond to measurably low glucose and are relieved by raising the glucose and that the term idiopathic postprandial syndrome be used for similar patterns of symptoms where abnormally low glucose levels at the time of symptoms cannot be documented to assist diagnosis a doctor can order an hba 1 c test which measures the blood sugar average over the two or three months before the test the more specific 6 hour glucose tolerance test can be used to chart changes in the patient s blood sugar levels before ingestion of a special glucose drink and at regular intervals during the six hours following to see if an unusual rise or drop in blood glucose levels occurs according to the u s national institute of health nih a blood glucose level below 70 mg dl 3 9 mmol l at the time of symptoms followed by relief after eating confirms a diagnosis for reactive hypoglycemia
zollinger – ellison syndrome
zollinger – ellison syndrome zes is caused by a non – beta islet cell islet of langerhans gastrin secreting tumor of the pancreas that stimulates the acid secreting cells of the stomach parietal cells to maximal activity with consequent gastrointestinal mucosal ulceration zes may occur sporadically or as part of an autosomal dominant familial syndrome called multiple endocrine neoplasia type 1 men 1 the primary tumor is usually located in the pancreas duodenum or abdominal lymph nodes but ectopic locations have also been described e g heart ovary gallbladder liver kidney
hypoparathyroidism
hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone this can lead to low levels of calcium in the blood often causing cramping and twitching of muscles or tetany involuntary muscle contraction and several other symptoms the condition can be inherited but it is also encountered after thyroid or parathyroid gland surgery and it can be caused by immune system related damage as well as a number of rarer causes the diagnosis is made with blood tests and other investigations such as genetic testing depending on the results the treatment of hypoparathyroidism is limited by the fact that there is no artificial form of the hormone that can be administered as replacement calcium replacement or vitamin d can ameliorate the symptom
pseudohypoparathyroidism
hyperparathyroidism
hyperparathyroidism is an increased parathyroid hormone pth levels in the blood this occurs either from the parathyroid glands inappropriately making too much pth primarily hyperparathyroidism or other events triggering increased production by the parathyroid glands secondary hyperparathyroidism most people with primary disease have no symptoms at the time of diagnosis in those with symptoms the most common is kidney stones with other potential symptoms including weakness depression bone pains confusion and increased urination both types increase the risk of weak bones
hyperparathyroidism is an increased parathyroid hormone pth levels in the blood this occurs either from the parathyroid glands inappropriately making too much pth primarily hyperparathyroidism or other events triggering increased production by the parathyroid glands secondary hyperparathyroidism most people with primary disease have no symptoms at the time of diagnosis in those with symptoms the most common is kidney stones with other potential symptoms including weakness depression bone pains confusion and increased urination both types increase the risk of weak bones primary hyperparathyroidism in 80 of cases is due to a single benign tumor known as a parathyroid adenoma with most of the rest of the cases due to a multiple benign tumors rarely it may be due to parathyroid cancer secondary hyperparathyroidism typically occurs due to vitamin d deficiency chronic kidney disease or other causes of low blood calcium diagnosis of primary disease is by finding a high blood calcium and high pth levels primary hyperparathyroidism may be cured by removing the adenoma or overactive parathyroid glands in those without symptoms mildly increased blood calcium levels normal kidneys and normal bone density monitoring may be all that is required the medication cinacalcet may also be used to decrease pth levels in those with very high blood calcium levels treatment may include large amounts of intravenous normal saline low vitamin d levels should be corrected primary hyperparathyroidism is the most common form in the developed world between one and four per thousand people are affected it occurs three times more often in women than men and is typically diagnosed between the ages of 50 and 60 the disease was first described in the 1700 s and in the late 1800 s was determined to be related to the parathyroid surgery as a treatment was first carried out in 1925
osteitis fibrosa cystica
osteitis fibrosa cystica ˌɒstiːˈaɪtᵻs faɪˈbroʊsə ˈsɪstᵻkə abbreviated ofc also known as osteitis fibrosa osteodystrophia fibrosa and von recklinghausen s disease of bone not to be confused with von recklinghausen s disease neurofibromatosis type i is a skeletal disorder caused by hyperparathyroidism which is a surplus of parathyroid hormone from over active parathyroid glands this surplus stimulates the activity of osteoclasts cells that break down bone in a process known as osteoclastic bone resorption the hyperparathyroidism can be triggered by a parathyroid adenoma hereditary factors parathyroid carcinoma or renal osteodystrophy osteoclastic bone resorption releases minerals including calcium from the bone into the bloodstream in addition to elevated blood calcium l
osteitis fibrosa cystica ˌɒstiːˈaɪtᵻs faɪˈbroʊsə ˈsɪstᵻkə abbreviated ofc also known as osteitis fibrosa osteodystrophia fibrosa and von recklinghausen s disease of bone not to be confused with von recklinghausen s disease neurofibromatosis type i is a skeletal disorder caused by hyperparathyroidism which is a surplus of parathyroid hormone from over active parathyroid glands this surplus stimulates the activity of osteoclasts cells that break down bone in a process known as osteoclastic bone resorption the hyperparathyroidism can be triggered by a parathyroid adenoma hereditary factors parathyroid carcinoma or renal osteodystrophy osteoclastic bone resorption releases minerals including calcium from the bone into the bloodstream in addition to elevated blood calcium levels over activity of this process results in a loss of bone mass a weakening of the bones as their calcified supporting structures are replaced with fibrous tissue peritrabecular fibrosis and the formation of cyst like brown tumors in and around the bone the symptoms of the disease are the consequences of both the general softening of the bones and the excess calcium in the blood and include bone fractures kidney stones nausea moth eaten appearance in the bones appetite loss and weight loss first described in the nineteenth century ofc is currently detected through a combination of blood testing x rays and tissue sampling before 1950 around half of those diagnosed with hyperparathyroidism in the united states saw it progress to ofc but with early identification techniques and improved treatment methods instances of ofc in developed countries are increasingly rare where treatment is required it normally involves addressing the underlying hyperparathyroidism before commencing long term treatment for ofc — depending on its cause and severity this can range from hydration and exercise to surgical intervention
gigantism
acromegaly
acromegaly is a condition that results from excess growth hormone gh after the growth plates have closed the initial symptom is typically enlargement of the hands and feet there may also be enlargement of the forehead jaw and nose other symptoms may include joint pain thicker skin deepening of the voice headaches and problems with vision complications of the disease may include type 2 diabetes sleep apnea and high blood pressure
acromegaly is a condition that results from excess growth hormone gh after the growth plates have closed the initial symptom is typically enlargement of the hands and feet there may also be enlargement of the forehead jaw and nose other symptoms may include joint pain thicker skin deepening of the voice headaches and problems with vision complications of the disease may include type 2 diabetes sleep apnea and high blood pressure acromegaly is typically due to the pituitary gland producing too much growth hormone in more than 95 of people the excess production is due to a benign tumor known as a pituitary adenoma the condition is not inherited from a person s parents rarely acromegally is due to tumors in other parts of the body diagnosis is by measuring growth hormone after a person has drunk glucose or measuring insulin like growth factor i in the blood after diagnosis medical imaging of the pituitary is carried out to look for an adenoma if excess growth hormone is produced during childhood the result is gigantism treatment option include surgery to remove the tumor medications and radiation therapy surgery is usually the preferred treatment and is most effective when the tumor is smaller in those in whom surgery is not effective medications of the somatostatin analogue or gh receptor antagonist type may be used the effects of radiation therapy are more gradual than that of surgery or medication without treatment those affected live on average 10 years less however with treatment life expectancy is typically normal acromegaly affects about 6 per 100 000 people it is most commonly diagnosed in middle age males and females are affected equally frequently the first medical description of the disorder occurred in 1772 by nicolas saucerotte the term is from greek ἄκρον akron meaning extremity and μέγα mega meaning large
hyperprolactinaemia
hyperprolactinaemia or hyperprolactinemia is the presence of abnormally high levels of prolactin in the blood normal levels are less than 500 miu l 20 ng ml or µg l for women and less than 450 miu l for men
hyperprolactinaemia or hyperprolactinemia is the presence of abnormally high levels of prolactin in the blood normal levels are less than 500 miu l 20 ng ml or µg l for women and less than 450 miu l for men prolactin is a peptide hormone produced by the anterior pituitary gland that is primarily associated with lactation and plays a vital role in breast development during pregnancy hyperprolactinaemia may cause galactorrhea production and spontaneous flow of breast milk and disruptions in the normal menstrual period in women and hypogonadism infertility and erectile dysfunction in men hyperprolactinaemia can be a part of normal body changes during pregnancy and breastfeeding it can also be caused by diseases affecting the hypothalamus and pituitary gland it can also be caused by disruption of the normal regulation of prolactin levels by drugs medicinal herbs and heavy metals hyperprolactinaemia may also be the result of disease of other organs such as the liver kidneys ovaries and thyroid
syndrome of inappropriate antidiuretic hormone secretion
syndrome of inappropriate antidiuretic hormone secretion siadh is characterized by excessive release of antidiuretic hormone from the posterior pituitary gland or another source the increase in blood volume hypervolemia often results in dilutional hyponatremia in which the plasma sodium levels are lowered and total body fluid is increased although the sodium level is low siadh is brought about by an excess of water rather than a deficit of sodium
syndrome of inappropriate antidiuretic hormone secretion siadh is characterized by excessive release of antidiuretic hormone from the posterior pituitary gland or another source the increase in blood volume hypervolemia often results in dilutional hyponatremia in which the plasma sodium levels are lowered and total body fluid is increased although the sodium level is low siadh is brought about by an excess of water rather than a deficit of sodium it was originally described in people with small cell carcinoma of the lung but it can be caused by a number of underlying medical conditions the treatment may consist of fluid intake restriction various medicines and management of the underlying cause salt administration may help prevent brain swelling by increasing attractive force to keep water in the bloodstream preventing fluid buildup in tissue siadh was first described in 1957
pickardt syndrome
growth hormone deficiency
growth hormone deficiency ghd is a medical condition caused by problems arising in the pituitary gland in which the body does not produce enough growth hormone gh growth hormone also called somatropin is a polypeptide hormone which stimulates growth and cell reproduction gh deficiency can be treated through growth hormone replacement injections of growth hormone or radiation or surgical treatment of tumors
sheehan s syndrome
kallmann syndrome
kallmann syndrome is a rare genetic condition that is characterized by a failure to start or a failure to complete puberty it is also accompanied by a lack of sense of smell anosmia or a highly reduced sense of smell hyposmia the condition can occur in both males and females but is more commonly diagnosed in males left untreated patients with kallmann syndrome will almost invariably be infertile hh can occur as an isolated condition with just the lh and fsh production being affected or it can occur in combined pituitary deficiency conditions such as charge syndrome
dwarfism
dwarfism occurs when an organism is short in stature from a medical condition that caused slow growth in humans dwarfism is sometimes defined as an adult height of less than 4 feet 10 inches 58 in 147 cm dwarfism can be caused by more than 300 medical conditions such that the symptoms of individuals with dwarfism vary greatly disproportionate dwarfism is characterized by one or more body parts being relatively large or small in comparison to those of an average sized adult with growth variations in specific areas in cases of proportionate dwarfism the body appears normally proportioned but is unusually small low muscle tone is common but intelligence and lifespan are usually normal
dwarfism occurs when an organism is short in stature from a medical condition that caused slow growth in humans dwarfism is sometimes defined as an adult height of less than 4 feet 10 inches 58 in 147 cm dwarfism can be caused by more than 300 medical conditions such that the symptoms of individuals with dwarfism vary greatly disproportionate dwarfism is characterized by one or more body parts being relatively large or small in comparison to those of an average sized adult with growth variations in specific areas in cases of proportionate dwarfism the body appears normally proportioned but is unusually small low muscle tone is common but intelligence and lifespan are usually normal treatment depends on the underlying cause those with bone growth disorders can sometimes be treated with surgery some hormone disorders can be treated with hormone replacement therapy before the child s growth plates fuse individual accommodations such as specialized furniture are often used by people with dwarfism many support groups provide services to aid individuals and the discrimination they may face in addition to the medical aspect of the condition there are also social aspects for a person with dwarfism height discrimination can lead to ridicule in childhood and discrimination in adulthood in the united kingdom united states canada australia and other english speaking countries some people with dwarfism prefer to be called little people historically the term midget was used to describe proportionate dwarfs however this term is now regarded as offensive by some
hypopituitarism
hypopituitarism is the decreased hypo secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain if there is decreased secretion of most pituitary hormones the term panhypopituitarism pan meaning all is used
diabetes insipidus
diabetes insipidus di is a condition characterized by excessive thirst and excretion of large amounts of severely dilute urine with reduction of fluid intake having no effect on the concentration of the urine there are different types of di each with a different set of causes the most common type in humans is the neurological form called central di cdi which involves a deficiency of arginine vasopressin avp also known as antidiuretic hormone adh the second common type of di is nephrogenic diabetes insipidus ndi which is due to kidney or nephron dysfunction caused by an insensitivity of the kidneys or nephrons to adh di can also be gestational or caused by alcohol or some types of drug abuse di should not be confused with nocturia
adiposogenital dystrophy
adiposogenital dystrophy is a condition which may be caused by tertiary hypogonadism originating from decreased levels in gnrh low levels of gnrh has been associated with defects of the feeding centers of the hypothalamus leading to an increased consumption of food and thus caloric intake
cushing s syndrome
cushing s syndrome is a collection of signs and symptoms due to prolonged exposure to cortisol signs and symptoms may include high blood pressure abdominal obesity but with thin arms and legs reddish stretch marks a round red face a fat lump between the shoulders weak muscles weak bones acne and fragile skin that heals poorly women may have more hair and irregular menstruation occasionally there may be changes in mood headaches and a chronic feeling of tiredness
cushing s disease
cushing s disease is a cause of cushing s syndrome characterised by increased secretion of adrenocorticotropic hormone acth from the anterior pituitary secondary hypercortisolism this is most often as a result of a pituitary adenoma specifically pituitary basophilism or due to excess production of hypothalamus crh corticotropin releasing hormone tertiary hypercortisolism hypercorticism that stimulates the synthesis of cortisol by the adrenal glands pituitary adenomas are responsible for 80 of endogenous cushing s syndrome when excluding cushing s syndrome from exogenously administered corticosteroids
hyperandrogenism
hyperandrogenism or androgen excess is a medical condition characterized by excessive levels of androgens in the body and the associated effects of these excessive levels of androgens hyperandrogenism is one of the primary symptoms of polycystic ovary syndrome pcos in such cases it presents with symptoms such as acne and seborrhea is frequent in adolescent girls and is often associated with irregular menstrual cycles in most instances these symptoms are transient and reflect only the immaturity of the hypothalamic pituitary ovarian axis during the first years following menarche approximately three quarters of patients with pcos by the diagnostic criteria of nih nichd 1990 have evidence of hyperandrogenism with free testosterone being the single most predictive marker with 60
congenital adrenal hyperplasia
achard – thiers syndrome
achard – thiers syndrome combines the features of adrenogenital syndrome and cushing syndrome it is also known as diabetic bearded woman syndrome diabète des femmes à barbe the disease is named for emile achard and joseph thiers
hyperaldosteronism
primary aldosteronism
primary aldosteronism also known as primary hyperaldosteronism or conn s syndrome is excess production of the hormone aldosterone by the adrenal glands resulting in low renin levels often it produces few symptoms most people have high blood pressure which may cause poor vision or headaches occasionally there may be muscular weakness muscle spasms tingling sensations or excessive urination complications include cardiovascular disease such as stroke myocardial infarction kidney failure and abnormal heart rhythms
bartter syndrome
bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of henle it is characterized by low potassium levels hypokalemia increased blood ph alkalosis and normal to low blood pressure there are two types of bartter syndrome neonatal and classic a closely associated disorder gitelman syndrome is milder than both subtypes of bartter syndrome
addison s disease
addison ’ s disease also known as primary adrenal insufficiency is a long term endocrine disorder in which the adrenal glands do not produce enough steroid hormones symptoms generally come on slowly and may include abdominal pain weakness and weight loss darkening of the skin in certain areas may also occur under certain circumstances an adrenal crisis may occur with low blood pressure vomiting lower back pain and loss of consciousness an adrenal crisis can be triggered by stress such as from an injury surgery or infection
polycystic ovary syndrome
polycystic ovary syndrome pcos is a set of symptoms due to elevated androgens male hormones in women signs and symptoms of pcos include irregular or no menstrual periods heavy periods excess body and facial hair acne pelvic pain difficulty getting pregnant and patches of thick darker velvety skin associated conditions include type 2 diabetes obesity obstructive sleep apnea heart disease mood disorders and endometrial cancer
premature ovarian failure
hypogonadism
hypogonadism means diminished functional activity of the gonads — the testes in males or the ovaries in females — that may result in diminished sex hormone biosynthesis in layman s terms it is sometimes called interrupted stage 1 puberty low androgen e g testosterone levels are referred to as hypoandrogenism and low estrogen e g estradiol as hypoestrogenism and may occur as symptoms of hypogonadism in both sexes but are generally only diagnosed in males and females respectively other hormones produced by the gonads that hypogonadism can decrease include progesterone dhea anti müllerian hormone activin and inhibin spermatogenesis in males and ovulation in females may be impaired by hypogonadism which depending on the degree of severity may result in partial or complete i
5 alpha reductase deficiency
5 α reductase deficiency 5 ard is an autosomal recessive intersex condition caused by a mutation of the 5 α reductase type ii gene
delayed puberty
puberty is described as delayed puberty with exceptions when an organism has passed the usual age of onset of puberty with no physical or hormonal signs that it is beginning puberty may be delayed for several years and still occur normally in which case it is considered constitutional delay of growth and puberty a variation of healthy physical development delay of puberty may also occur due to malnutrition many forms of systemic disease or to defects of the reproductive system hypogonadism or the body s responsiveness to sex hormones
precocious puberty
in medicine precocious puberty is puberty occurring at an unusually early age in most cases the process is normal in every aspect except the unusually early age and simply represents a variation of normal development in a minority of children the early development is triggered by a disease such as a tumor or injury of the brain even when there is no disease unusually early puberty can have adverse effects on social behavior and psychological development can reduce adult height potential and may shift some lifelong health risks central precocious puberty can be treated by suppressing the pituitary hormones that induce sex steroid production
autoimmune polyendocrine syndrome
in medicine autoimmune polyendocrine syndromes apss also called autoimmune polyglandular syndromes apss polyglandular autoimmune syndromes pgass or polyendocrine autoimmune syndromes are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ although non endocrine organs can be affected there are three types of aps or in terms that mean the same thing three apss and there are a number of other diseases which have endocrine autoimmunity as one of their features
multiple endocrine neoplasia
the term multiple endocrine neoplasia men encompasses several distinct syndromes featuring tumors of endocrine glands each with its own characteristic pattern in some cases the tumors are malignant in others benign benign or malignant tumors of nonendocrine tissues occur as components of some of these tumor syndromes men syndromes are inherited as autosomal dominant disorders
psychosocial short stature
psychosocial short stature pss or psychosocial dwarfism sometimes called psychogenic or stress dwarfism or kaspar hauser syndrome is a growth disorder that is observed between the ages of 2 and 15 caused by extreme emotional deprivation or stress
laron syndrome
laron s syndrome or laron type dwarfism is an autosomal recessive disorder characterized by an insensitivity to growth hormone gh usually caused by a mutant growth hormone receptor it causes short stature and an increased sensitivity to insulin which means that they are less likely to develop diabetes mellitus type 2 and possibly cancer as well it can be treated with injections of recombinant igf 1
androgen insensitivity syndrome
androgen insensitivity syndrome ais is a condition that results in the partial or complete inability of the cell to respond to androgens the unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus as well as the development of male secondary sexual characteristics at puberty but does not significantly impair female genital or sexual development as such the insensitivity to androgens is clinically significant only when it occurs in genetic males i e individuals with a y chromosome or more specifically an sry gene clinical phenotypes in these individuals range from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair to a full female habitus despit
androgen insensitivity syndrome ais is a condition that results in the partial or complete inability of the cell to respond to androgens the unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus as well as the development of male secondary sexual characteristics at puberty but does not significantly impair female genital or sexual development as such the insensitivity to androgens is clinically significant only when it occurs in genetic males i e individuals with a y chromosome or more specifically an sry gene clinical phenotypes in these individuals range from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair to a full female habitus despite the presence of a y chromosome ais is divided into three categories that are differentiated by the degree of genital masculinization complete androgen insensitivity syndrome cais is indicated when the external genitalia are that of a normal female mild androgen insensitivity syndrome mais is indicated when the external genitalia are that of a normal male and partial androgen insensitivity syndrome pais is indicated when the external genitalia are partially but not fully masculinized androgen insensitivity syndrome is the largest single entity that leads to 46 xy undermasculinized genitalia
complete androgen insensitivity syndrome
complete androgen insensitivity syndrome cais is a condition that results in the complete inability of the cell to respond to androgens the unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus as well as the development of male secondary sexual characteristics at puberty but does not significantly impair female genital or sexual development as such the insensitivity to androgens is only clinically significant when it occurs in genetic males i e individuals with a y chromosome or more specifically an sry gene all affected individuals are phenotypically female they develop a normal female habitus despite the presence of a y chromosome
complete androgen insensitivity syndrome cais is a condition that results in the complete inability of the cell to respond to androgens the unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus as well as the development of male secondary sexual characteristics at puberty but does not significantly impair female genital or sexual development as such the insensitivity to androgens is only clinically significant when it occurs in genetic males i e individuals with a y chromosome or more specifically an sry gene all affected individuals are phenotypically female they develop a normal female habitus despite the presence of a y chromosome cais is one of the three categories of androgen insensitivity syndrome ais since ais is differentiated according to the degree of genital masculinization complete androgen insensitivity syndrome cais when the external genitalia is that of a normal female mild androgen insensitivity syndrome mais when the external genitalia is that of a normal male and partial androgen insensitivity syndrome pais when the external genitalia is partially but not fully masculinized androgen insensitivity syndrome is the largest single entity that leads to 46 xy undermasculinization
werner syndrome
werner syndrome ws also known as adult progeria is a rare autosomal recessive progeroid syndrome ps which is characterized by the appearance of premature aging werner syndrome is named after the german scientist otto werner he identified the syndrome in four siblings observed with premature aging which he explored as the subject of his dissertation of 1904
progeria
progeria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age progeria is one of several progeroid syndromes the word progeria comes from the greek words pro πρό meaning before or premature and gēras γῆρας meaning old age the disorder has a very low incidence rate occurring in an estimated 1 per 8 million live births those born with progeria typically live to their mid teens to early twenties it is a genetic condition that occurs as a new mutation and is rarely inherited as carriers usually do not live to reproduce although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms and is often used as such it is often applied specifically in reference to
progeria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age progeria is one of several progeroid syndromes the word progeria comes from the greek words pro πρό meaning before or premature and gēras γῆρας meaning old age the disorder has a very low incidence rate occurring in an estimated 1 per 8 million live births those born with progeria typically live to their mid teens to early twenties it is a genetic condition that occurs as a new mutation and is rarely inherited as carriers usually do not live to reproduce although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms and is often used as such it is often applied specifically in reference to hutchinson – gilford progeria syndrome hgps scientists are particularly interested in progeria because it might reveal clues about the normal process of aging progeria was first described in 1886 by jonathan hutchinson it was also described independently in 1897 by hastings gilford the condition was later named hutchinson – gilford progeria syndrome
kwashiorkor
kwashiorkor kwɑːʃiˈɔːrkər is a form of severe protein – energy malnutrition characterized by edema irritability ulcerating dermatoses and an enlarged liver with fatty infiltrates sufficient calorie intake but with insufficient protein consumption distinguishes it from marasmus kwashiorkor cases occur in areas of famine or poor food supply cases in the developed world are rare
malnutrition
malnutrition or malnourishment is a condition that results from eating a diet in which nutrients are either not enough or are too much such that the diet causes health problems it may involve calories protein carbohydrates vitamins or minerals not enough nutrients is called undernutrition or undernourishment while too much is called overnutrition malnutrition is often used specifically to refer to undernutrition where there is not enough calories protein or micronutrients if undernutrition occurs during pregnancy or before two years of age it may result in permanent problems with physical and mental development extreme undernourishment known as starvation may have symptoms that include a short height thin body very poor energy levels and swollen legs and abdomen people a
marasmus
marasmus is a form of severe malnutrition characterized by energy deficiency a child with marasmus looks emaciated body weight is reduced to less than 60 of the normal expected body weight for the age marasmus occurrence increases prior to age 1 whereas kwashiorkor occurrence increases after 18 months it can be distinguished from kwashiorkor in that kwashiorkor is protein deficiency with adequate energy intake whereas marasmus is inadequate energy intake in all forms including protein protein wasting in kwashiorkor may lead to edema
vitamin deficiency
a vitamin deficiency can cause a disease or syndrome known as an avitaminosis or hypovitaminosis this usually refers to a long term deficiency of a vitamin when caused by inadequate nutrition it can be classed as a primary deficiency and when due to an underlying disorder such as malabsorption it can be classed as a secondary deficiency an underlying disorder may be metabolic as in a defect converting tryptophan to niacin it can also be the result of lifestyle choices including smoking and alcohol consumption
a vitamin deficiency can cause a disease or syndrome known as an avitaminosis or hypovitaminosis this usually refers to a long term deficiency of a vitamin when caused by inadequate nutrition it can be classed as a primary deficiency and when due to an underlying disorder such as malabsorption it can be classed as a secondary deficiency an underlying disorder may be metabolic as in a defect converting tryptophan to niacin it can also be the result of lifestyle choices including smoking and alcohol consumption examples are vitamin a deficiency folate deficiency scurvy vitamin d deficiency vitamin e deficiency and vitamin k deficiency in the medical literature any of these may also be called by names on the pattern of hypovitaminosis or avitaminosis letter of vitamin for example hypovitaminosis a hypovitaminosis c hypovitaminosis d conversely hypervitaminosis is the syndrome of symptoms caused by over retention of fat soluble vitamins in the body
beriberi
beriberi refers to a cluster of symptoms caused primarily by thiamine vitamin b 1 deficiency beriberi has conventionally been divided into three separate entities relating to the body system mainly involved peripheral nervous system or cardiovascular or age of person like infantile beriberi is one of several thiamine deficiency related conditions which may occur concurrently including wernicke s encephalopathy mainly affecting the central nervous system korsakoff s syndrome amnesia with additional psychiatric manifestations and wernicke korsakoff syndrome with both neurologic and psychiatric symptoms
beriberi refers to a cluster of symptoms caused primarily by thiamine vitamin b 1 deficiency beriberi has conventionally been divided into three separate entities relating to the body system mainly involved peripheral nervous system or cardiovascular or age of person like infantile beriberi is one of several thiamine deficiency related conditions which may occur concurrently including wernicke s encephalopathy mainly affecting the central nervous system korsakoff s syndrome amnesia with additional psychiatric manifestations and wernicke korsakoff syndrome with both neurologic and psychiatric symptoms historically beriberi has been common in regions where what is variously referred to as polished or white rice forms a major part of the diet which has its husk removed to extend its shelf life and palatability but has the side effect of removing the primary source of thiamine it was not known until the end of the 19 th century that polishing rice was associated with beriberi
wernicke s encephalopathy
wernicke s encephalopathy or wernicke s disease refers to the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of b vitamin reserves in particular thiamine vitamin b 1 the condition is part of a larger group of diseases related to thiamine insufficiency including beriberi in all its forms and korsakoff syndrome when wernicke s encephalopathy occurs simultaneously with korsakoff syndrome it is known as wernicke – korsakoff syndrome
wernicke – korsakoff syndrome
wernicke – korsakoff syndrome wks is the combined presence of wernicke s encephalopathy we and korsakoff s syndrome due to the close relationship between these two disorders people with both are usually diagnosed with wks as a single syndrome it is due to thiamine vitamin b 1 deficiency which can cause a range of disorders including beriberi wernicke s encephalopathy and korsakoff s psychosis these disorders may manifest together or separately wks is usually secondary to alcohol abuse it mainly causes vision changes ataxia and impaired memory
wernicke – korsakoff syndrome wks is the combined presence of wernicke s encephalopathy we and korsakoff s syndrome due to the close relationship between these two disorders people with both are usually diagnosed with wks as a single syndrome it is due to thiamine vitamin b 1 deficiency which can cause a range of disorders including beriberi wernicke s encephalopathy and korsakoff s psychosis these disorders may manifest together or separately wks is usually secondary to alcohol abuse it mainly causes vision changes ataxia and impaired memory wernicke s encephalopathy and wks is most commonly seen in people who are alcoholic and only 20 of cases are identified before death this failure in diagnosis of we and thus treatment of the disease leads to death in approximately 20 of cases while 75 are left with permanent brain damage associated with wks of those affected 25 require long term institutionalization in order to receive effective care
pellagra
pellagra is a vitamin deficiency disease most frequently caused by a chronic lack of niacin vitamin b 3 or vitamin pp from pellagra preventing factor in the diet it can be caused by decreased intake of niacin or tryptophan and possibly by excessive intake of leucine it may also result from alterations in protein metabolism in disorders such as carcinoid syndrome or hartnup disease a deficiency of the amino acid lysine can lead to a deficiency of niacin as well
vitamin b 12 deficiency
vitamin b 12 deficiency also known as hypocobalaminemia refers to low blood levels of vitamin b 12 a wide variety of signs and symptoms may occur including a decreased ability to think and behavioural and emotional changes such as depression irritability and psychosis abnormal sensations changes in reflexes and poor muscle function can also occur as may inflammation of the tongue decreased taste low red blood cells reduced heart function and decreased fertility in young children symptoms include poor growth poor development and difficulties with movement without early treatment some of the changes may be permanent
vitamin b 12 deficiency also known as hypocobalaminemia refers to low blood levels of vitamin b 12 a wide variety of signs and symptoms may occur including a decreased ability to think and behavioural and emotional changes such as depression irritability and psychosis abnormal sensations changes in reflexes and poor muscle function can also occur as may inflammation of the tongue decreased taste low red blood cells reduced heart function and decreased fertility in young children symptoms include poor growth poor development and difficulties with movement without early treatment some of the changes may be permanent common causes include poor absorption from the stomach or intestines decreased intake and increased requirements decreased absorption may be due to pernicious anemia surgical removal of the stomach chronic inflammation of the pancreas intestinal parasites certain medications and some genetic disorders decreased intake may occur in those who eat a vegan diet or have malnutrition increased requirements occur in hiv aids and in those with rapid red blood cell breakdown diagnosis is typically based on vitamin b 12 blood levels below 120 – 180 picomol l 170 – 250 pg ml in adults elevated methylmalonic acid levels values 0 4 micromol l may also indicate a deficiency a type of low red blood cells known as megaloblastic anemia is often but not always present supplementation is recommended to prevent deficiency in vegetarians who are pregnant once identified it is easily treated with supplementation by mouth or injection there are no concerns from excess vitamin b 12 among those who are otherwise healthy some cases may also be helped by treating the underlying cause other cases may require ongoing supplementation as the underlying cause is not curable vitamin b 12 deficiency is common it is estimated to occur in about 6 of those under the age of 60 and 20 of those over the age of 60 rates may be as high as 80 in parts of africa and asia
biotinidase deficiency
scurvy
scurvy is a disease resulting from a lack of vitamin c early symptoms include weakness feeling tired curly hair and sore arms and legs without treatment low red blood cells gum disease and bleeding from the skin may occur as scurvy worsens there can be poor wound healing personality changes and finally death from infection or bleeding
rickets
rickets is defective mineralization or calcification of bones before epiphyseal closure in immature mammals due to deficiency or impaired metabolism of vitamin d phosphorus or calcium potentially leading to fractures and deformity rickets is among the most frequent childhood diseases in many developing countries the predominant cause is a vitamin d deficiency but lack of adequate calcium in the diet may also lead to rickets cases of severe diarrhea and vomiting may be the cause of the deficiency although it can occur in adults the majority of cases occur in children suffering from severe malnutrition usually resulting from famine or starvation during the early stages of childhood
rickets is defective mineralization or calcification of bones before epiphyseal closure in immature mammals due to deficiency or impaired metabolism of vitamin d phosphorus or calcium potentially leading to fractures and deformity rickets is among the most frequent childhood diseases in many developing countries the predominant cause is a vitamin d deficiency but lack of adequate calcium in the diet may also lead to rickets cases of severe diarrhea and vomiting may be the cause of the deficiency although it can occur in adults the majority of cases occur in children suffering from severe malnutrition usually resulting from famine or starvation during the early stages of childhood osteomalacia is a similar condition occurring in adults generally due to a deficiency of vitamin d but occurs after epiphyseal closure
selenium deficiency
iron deficiency
iron deficiency is the most common nutritional deficiency in the world iron is present in all cells in the human body and has several vital functions such as carrying oxygen to the tissues from the lungs as a key component of the hemoglobin protein acting as a transport medium for electrons within the cells in the form of cytochromes facilitating oxygen use and storage in the muscles as a component of myoglobin and as an integral part of enzyme reactions in various tissues too little iron can interfere with these vital functions and lead to morbidity and death
magnesium deficiency medicine
magnesium deficiency or hypomagnesia not to be confused with hypomagnesemia refers to inadequate intake of dietary magnesium or impaired absorption of magnesium which can result in numerous symptoms and diseases it is generally corrected by an increase of magnesium in diet oral supplements and in severe cases intravenous supplementation
abdominal obesity
abdominal obesity also known as central obesity is when excessive abdominal fat around the stomach and abdomen has built up to the extent that it is likely to have a negative impact on health there is a strong correlation between central obesity and cardiovascular disease abdominal obesity is not confined only to the elderly and obese subjects abdominal obesity has been linked to alzheimer s disease as well as other metabolic and vascular diseases visceral and central abdominal fat and waist circumference show a strong association with type 2 diabetes
abdominal obesity also known as central obesity is when excessive abdominal fat around the stomach and abdomen has built up to the extent that it is likely to have a negative impact on health there is a strong correlation between central obesity and cardiovascular disease abdominal obesity is not confined only to the elderly and obese subjects abdominal obesity has been linked to alzheimer s disease as well as other metabolic and vascular diseases visceral and central abdominal fat and waist circumference show a strong association with type 2 diabetes visceral fat also known as organ fat or intra abdominal fat is located inside the peritoneal cavity packed in between internal organs and torso as opposed to subcutaneous fat ‚ which is found underneath the skin and intramuscular fat ‚ which is found interspersed in skeletal muscle visceral fat is composed of several adipose depots including mesenteric epididymal white adipose tissue ewat and perirenal fat an excess of visceral fat is known as central obesity the pot belly or beer belly effect in which the abdomen protrudes excessively this body type is also known as apple shaped ‚ as opposed to pear shaped ‚ in which fat is deposited on the hips and buttocks researchers first started to focus on abdominal obesity in the 1980 s when they realized that it had an important connection to cardiovascular disease diabetes and dyslipidemia abdominal obesity was more closely related with metabolic dysfunctions connected with cardiovascular disease than was general obesity in the late 1980 s and early 1990 s insightful and powerful imaging techniques were discovered that would further help advance the understanding of the health risks associated with body fat accumulation techniques such as computed tomography and magnetic resonance imaging made it possible to categorize mass of adipose tissue located at the abdominal level into intra abdominal fat and subcutaneous fat
obesity
obesity is a medical condition in which excess body fat has accumulated to the extent that it may have a negative effect on health people are generally considered obese when their body mass index bmi a measurement obtained by dividing a person s weight by the square of the person s height is over 30 kg m 2 with the range 25 – 30 kg m 2 defined as overweight some east asian countries use lower values obesity increases the likelihood of various diseases particularly heart disease type 2 diabetes obstructive sleep apnea certain types of cancer and osteoarthritis
overweight
overweight is having more body fat than is optimally healthy being overweight is common especially where food supplies are plentiful and lifestyles are sedentary excess weight has reached epidemic proportions globally with more than 1 billion adults being either overweight or obese in 2003 in 2013 this increased to more than 2 billion increases have been observed across all age groups
obesity hypoventilation syndrome
obesity hypoventilation syndrome also known as pickwickian syndrome is a condition in which severely overweight people fail to breathe rapidly enough or deeply enough resulting in low blood oxygen levels and high blood carbon dioxide co 2 levels many people with this condition also frequently stop breathing altogether for short periods of time during sleep obstructive sleep apnea resulting in many partial awakenings during the night which leads to continual sleepiness during the day the disease puts strain on the heart which eventually may lead to the symptoms such as heart failure leg swelling and various other related symptoms the most effective treatment is weight loss but it is often possible to relieve the symptoms by nocturnal ventilation with positive airway pressure
hypervitaminosis
hypervitaminosis refers to a condition of abnormally high storage levels of vitamins which can lead to toxic symptoms the medical names of the different conditions are derived from the vitamin involved an excess of vitamin a for example is called hypervitaminosis a hypervitaminosis primarily affects the fat soluble vitamins as these are stored by the body for longer period than the water soluble vitamins however avoiding excesses of both classes of vitamins can make the condition hard to get
hypervitaminosis refers to a condition of abnormally high storage levels of vitamins which can lead to toxic symptoms the medical names of the different conditions are derived from the vitamin involved an excess of vitamin a for example is called hypervitaminosis a hypervitaminosis primarily affects the fat soluble vitamins as these are stored by the body for longer period than the water soluble vitamins however avoiding excesses of both classes of vitamins can make the condition hard to get generally toxic levels of vitamins stem from high supplement intake and not from dietary sources toxicities of fat soluble vitamins can also be caused by a large intake of highly fortified foods but foods rarely deliver dangerous levels of fat soluble vitamins the dietary reference intake recommendations from the united states department of agriculture define a tolerable upper intake level for most vitamins high dosage vitamin a high dosage slow release vitamin b 3 and very high dosage vitamin b 6 alone i e without vitamin b complex are sometimes associated with vitamin side effects that usually rapidly cease with supplement reduction or cessation
hypervitaminosis d
hypervitaminosis d is a state of vitamin d toxicity the normal range for blood concentration is 30 0 to 74 0 nanograms per milliliter ng ml
metabolic disorder
phenylketonuria
phenylketonuria pku is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine untreated pku can lead to intellectual disability seizures behavioral problems and mental disorder it may also result in a musty smell and lighter skin babies born to mothers who have poorly treated pku may have heart problems a small head and low birth weight
phenylketonuria pku is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine untreated pku can lead to intellectual disability seizures behavioral problems and mental disorder it may also result in a musty smell and lighter skin babies born to mothers who have poorly treated pku may have heart problems a small head and low birth weight phenylketonuria is a genetic disorder inherited from a person s parents it is due to mutations in the pah gene which results in low levels of the enzyme phenylalanine hydroxylase this results in the build up of dietary phenylalanine to potentially toxic levels it is autosomal recessive meaning that both copies of the gene must be mutated for the condition to develop there are two main types classic pku and variant pku depending on if any enzyme function remains those with one copy of a mutated gene typically do not have symptoms many countries have newborn screening programs for the disease treatment is with a diet low in foods that contain phenylalanine and special supplements babies should use a special formula the diet should begin as soon as possible after birth and be lifelong people who are diagnosed early and maintain a strict diet can have normal health and a normal life span effectiveness is monitored through periodic blood tests the medication sapropterin dihydrochloride may be useful in some phenylketonuria affects about one in 10 000 to 25 000 babies males and females are affected equally the disease was discovered in 1934 by ivar asbjørn følling with the importance of diet determined in 1953 gene therapy while promising requires a great deal more study as of 2014
tyrosinemia
tyrosinemia or tyrosinaemia is an error of metabolism usually inborn in which the body cannot effectively break down the amino acid tyrosine symptoms include liver and kidney disturbances and intellectual disability untreated tyrosinemia can be fatal most inborn forms of tyrosinemia produce hypertyrosinemia high levels of tyrosine
type i tyrosinemia
type 1 tyrosinemia also known as hepatorenal tyrosinemia or tyrosinosis is the most severe form of tyrosinemia a buildup of too much of the amino acid tyrosine in the blood and tissues due to an inability to metabolize it it is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase
alkaptonuria
alkaptonuria black urine disease black bone disease or alcaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine which occur in protein it is caused by a mutation in the hgd gene for the enzyme homogentisate 1 2 dioxygenase ec 1 13 11 5 if a person inherits abnormal copies from each parent it is a recessive condition the body accumulates an intermediate substance called homogentisic acid in the blood and tissues homogentisic acid and its oxidated form alkapton are excreted in the urine giving it an unusually dark color the accumulating homogentisic acid causes damage to cartilage ochronosis leading to osteoarthritis and heart valves as well as precipitating as kidney stones and stones in other organs symp
ochronosis
ocular albinism type 1
ocular albinism type 1 oa 1 also called nettleship – falls syndrome is the most common type of ocular albinism with a prevalence rate of 1 50 000 it is an inheritable classical mendelian type x linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal since it is an x linked disorder it occurs mostly in males while females are carriers unless they are homozygous about 60 missense and nonsense mutations insertions and deletions have been identified in oa 1 mutations in oa 1 have been linked to defective glycosylation and thus improper intracellular transportation
albinism
albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin hair and eyes albinism is associated with a number of vision defects such as photophobia nystagmus and amblyopia lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers in rare cases such as chédiak – higashi syndrome albinism may be associated with deficiencies in the transportation of melanin granules this also affects essential granules present in immune cells leading to increased susceptibility to infection
albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin hair and eyes albinism is associated with a number of vision defects such as photophobia nystagmus and amblyopia lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers in rare cases such as chédiak – higashi syndrome albinism may be associated with deficiencies in the transportation of melanin granules this also affects essential granules present in immune cells leading to increased susceptibility to infection albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates including humans it is due to absence or defect of tyrosinase a copper containing enzyme involved in the production of melanin it is the opposite of melanism unlike humans other animals have multiple pigments and for these albinism is considered to be a hereditary condition characterised by the absence of melanin in particular in the eyes skin hair scales feathers or cuticle while an organism with complete absence of melanin is called an albino an organism with only a diminished amount of melanin is described as leucistic or albinoid the term is from the latin albus white
oculocutaneous albinism
cross syndrome
cross – mckusick – breen syndrome also known as cross syndrome hypopigmentation and microphthalmia and oculocerebral hypopigmentation syndrome is an extremely rare disorder characterized by white skin blond hair with yellow gray metallic sheen small eyes with cloudy corneas jerky nystagmus gingival fibromatosis and severe mental and physical retardation it was characterized in 1967
chédiak – higashi syndrome
chédiak – higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein which leads to a decrease in phagocytosis the decrease in phagocytosis results in recurrent pyogenic infections partial albinism and peripheral neuropathy it occurs in humans cattle blue persian cats australian blue rats mice mink foxes and the only known captive albino orca
waardenburg syndrome
waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness minor defects in structures arising from the neural crest and pigmentation changes it was first described in 1951
piebaldism
piebaldism is a rare autosomal dominant disorder of melanocyte development common characteristics include a congenital white forelock scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead there is nevertheless great variation in the degree and pattern of presentation even within affected families in some cases piebaldism occurs together with severe developmental problems as in waardenburg syndrome and hirschsprung s disease it has been documented to occur in all races early photographers captured many images of african piebalds used as a form of amusement and george catlin is believed to have painted several portraits of native americans of the mandan tribe who were affected by piebaldism piebaldism is found in nearly ever
piebaldism is a rare autosomal dominant disorder of melanocyte development common characteristics include a congenital white forelock scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead there is nevertheless great variation in the degree and pattern of presentation even within affected families in some cases piebaldism occurs together with severe developmental problems as in waardenburg syndrome and hirschsprung s disease it has been documented to occur in all races early photographers captured many images of african piebalds used as a form of amusement and george catlin is believed to have painted several portraits of native americans of the mandan tribe who were affected by piebaldism piebaldism is found in nearly every species of mammal it is very common in mice rabbits dogs sheep deer cattle and horses — where selective breeding has increased the incidence of the mutation but occurs among chimpanzees and other primates only as rarely as among humans piebaldism is completely unrelated to acquired or infectious conditions such as vitiligo or poliosis pie is a word for multi colored and bald is related to a root word for skin although piebaldism may visually appear to be partial albinism it is a fundamentally different condition the vision problems associated with albinism are not usually present as eye pigmentation is normal piebaldism differs from albinism in that the affected cells maintain the ability to produce pigment but have that specific function turned off in albinism the cells lack the ability to produce pigment altogether human piebaldism has been observed to be associated with a very wide range and varying degrees of endocrine disorders and is occasionally found together with heterochromia of the irises congenital deafness or incomplete gastrointestinal tract development possibly all with the common cause of premature cutting off of human fetal growth hormone during gestation piebaldism is a kind of neurocristopathy involving defects of various neural crest cell lineages that include melanocytes but also involving many other tissues derived from the neural crest oncogenic factors including mistranscription are hypothesized to be related to the degree of phenotypic variation among affected individuals this is an autosomal dominant hereditary condition which tends to produce high rates of inheritance and long chains of generational transmission all who inherit the gene have at some time in life evidence of piebald hypopigmentation of the hair or skin most likely both historically persons with extensive piebaldism have experienced abuse of the sort still suffered in the present by albinos especially in africa this has ranged from display of unclothed african piebalds in freak shows and post cards of the early twentieth century to the forcing of piebalds as in the case of albinos to work long hours exposed to the sun producing high rates of lethal skin cancers to the use of piebald humans including children in risky medical experiments the national organization of albinism and hypopigmentation as well as organizations such as under the same sun work to promote awareness of all forms of cutaneous variation and their medical implications and to highlight human rights issues especially the plight of albinos subject to extreme persecution in parts of africa piebaldism may be associated with the genes kit or snai 2
hermansky – pudlak syndrome
hermansky – pudlak syndrome hps is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism decreased pigmentation bleeding problems due to a platelet abnormality platelet storage pool defect and storage of an abnormal fat protein compound lysosomal accumulation of ceroid lipofuscin it is considered to affect around 1 in 500 000 people worldwide with a significantly higher occurrence in puerto ricans with a prevalence of 1 in 1800 many of the clinical research studies on the disease have been conducted in puerto rico
maple syrup urine disease
maple syrup urine disease msud also called branched chain ketoaciduria is an autosomal recessive metabolic disorder affecting branched chain amino acids it is one type of organic acidemia the condition gets its name from the distinctive sweet odor of affected infants urine particularly prior to diagnosis and during times of acute illness
methylmalonic acidemia
methylmalonic acidemia mma also called methylmalonic aciduria is an autosomal recessive metabolic disorder it is a classical type of organic acidemia the result of this condition is the inability to properly digest specific fats and proteins which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood
methylmalonic acidemia mma also called methylmalonic aciduria is an autosomal recessive metabolic disorder it is a classical type of organic acidemia the result of this condition is the inability to properly digest specific fats and proteins which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood methylmalonic acidemia stems from several genotypes all forms of the disorder usually diagnosed in the early neonatal period presenting progressive encephalopathy and secondary hyperammonemia the disorder can result in death if undiagnosed or left untreated it is estimated that this disorder has a frequency of 1 in 48 000 births though the high mortality rate in diagnosed cases make exact determination difficult methylmalonic acidemias are found with an equal frequency across ethnic boundaries
adrenoleukodystrophy
adrenoleukodystrophy ˌlu koʊ ˈdis trə fiː also known as x linked adrenoleukodystrophy ald x ald siemerling – creutzfeldt disease or bronze schilder disease is a disease that is linked on the x chromosome it is a result of fatty acid digestive enzymes not breaking up the fats these fats build up in the brain they damage the myelin that surrounds nerves this can cause seizures and hyperactivity it can also cause problems with speaking listening and understanding verbal instructions
medium chain acyl coenzyme a dehydrogenase deficiency
medium chain acyl coa dehydrogenase deficiency often known as mcad deficiency or mcadd is a disorder of fatty acid oxidation that impairs the body s ability to break down medium chain fatty acids into acetyl coa the disorder is characterized by hypoglycemia and sudden death without timely intervention most often brought on by periods of fasting or vomiting prior to expanded newborn screening mcadd was an underdiagnosed cause of sudden death in infants individuals who have been identified prior to the onset of symptoms have an excellent prognosis
oculocerebrorenal syndrome
oculocerebrorenal syndrome also called lowe syndrome is a rare x linked recessive disorder characterized by congenital cataracts hypotonia and areflexia intellectual disability proximal tubular acidosis aminoaciduria phosphaturia and low molecular weight proteinuria glaucoma is present in about 50 of cases lowe syndrome can be considered a cause of fanconi syndrome bicarbonaturia renal tubular acidosis aminoaciduria phosphaturia tubular proteinuria and impaired urine concentrating ability
fanconi syndrome
fanconi syndrome or fanconi s syndrome english fɑːnˈkoʊni fæn is a syndrome of inadequate reabsorption in the proximal renal tubules of the kidney the syndrome can be caused by various underlying congenital or acquired diseases by toxicity for example from toxic heavy metals or by adverse drug reactions it results in various small molecules of metabolism being passed into the urine instead of being reabsorbed from the tubular fluid for example glucose amino acids uric acid phosphate and bicarbonate fanconi syndrome affects the proximal tubules namely the proximal convoluted tubule pct which is the first part of the tubule to process fluid after it is filtered through the glomerulus and the proximal straight tubule pars recta which leads to the descending lim
fanconi syndrome or fanconi s syndrome english fɑːnˈkoʊni fæn is a syndrome of inadequate reabsorption in the proximal renal tubules of the kidney the syndrome can be caused by various underlying congenital or acquired diseases by toxicity for example from toxic heavy metals or by adverse drug reactions it results in various small molecules of metabolism being passed into the urine instead of being reabsorbed from the tubular fluid for example glucose amino acids uric acid phosphate and bicarbonate fanconi syndrome affects the proximal tubules namely the proximal convoluted tubule pct which is the first part of the tubule to process fluid after it is filtered through the glomerulus and the proximal straight tubule pars recta which leads to the descending limb of the loop of henle different forms of fanconi syndrome can affect different functions of the proximal tubule and result in different complications the loss of bicarbonate results in type 2 or proximal renal tubular acidosis the loss of phosphate results in the bone diseases rickets and osteomalacia even with adequate vitamin d and calcium levels because phosphate is necessary for bone development in children and even for ongoing bone metabolism in adults
cystinuria
cystinosis
cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine it is a genetic disorder that typically follows an autosomal recessive inheritance pattern cystinosis is the most common cause of fanconi syndrome in the pediatric age group fanconi syndrome occurs when the function of cells in renal tubules are impaired leading to abnormal amounts of carbohydrates and amino acids in the urine excessive urination and low blood levels of potassium and phosphates
cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine it is a genetic disorder that typically follows an autosomal recessive inheritance pattern cystinosis is the most common cause of fanconi syndrome in the pediatric age group fanconi syndrome occurs when the function of cells in renal tubules are impaired leading to abnormal amounts of carbohydrates and amino acids in the urine excessive urination and low blood levels of potassium and phosphates cystinosis was the first documented genetic disease belonging to the group of lysosomal transport defect disorders it is a rare autosomal recessive disorder resulting from accumulation of free cystine in lysosomes eventually leading to intracellular crystal formation throughout the body cystinosis is caused by mutations in the ctns gene that codes for cystinosin the lysosomal membrane specific transporter for cystine intracellular metabolism of cystine as it happens with all amino acids requires its transport across the cell membrane after degradation of endocytosed protein to cystine within lysosomes it is normally transported to the cytosol but if there is a defect in the carrier protein cystine is accumulated in lysosomes as cystine is highly insoluble when its concentration in tissue lysosomes increase its solubility is immediately exceeded and crystalline precipitates are formed in almost all organs and tissues however the progression of the disease is not related to the presence of crystals in target tissues although tissue damage might depend on cystine accumulation the mechanisms of tissue damage are not fully understood increased intracellular cystine profoundly disturbs cellular oxidative metabolism and glutathione status leading to altered mitochondrial energy metabolism autophagy and apoptosis cystinosis is usually treated with cysteamine which is prescribed to decrease intralysosomal cystine accumulation however the recent discovery of new pathogenic mechanisms and the development of an animal model of the disease may open possibilities for the development of new treatment modalities to improve long term prognosis
hartnup disease
hartnup disease also known as pellagra like dermatosis and hartnup disorder is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids particularly tryptophan that can be in turn converted into serotonin melatonin and niacin niacin is a precursor to nicotinamide a necessary component of nad the causative gene slc 6 a 19 is located on chromosome 5
homocystinuria
classical homocystinuria also known as cystathionine beta synthase deficiency or cbs deficiency is an inherited disorder of the metabolism of the amino acid methionine often involving cystathionine beta synthase it is an inherited autosomal recessive trait which means a child needs to inherit a copy of the defective gene from both parents to be affected
hyperammonemia
hyperammonemia or hyperammonaemia is a metabolic disturbance characterised by an excess of ammonia in the blood it is a dangerous condition that may lead to encephalopathy and death it may be primary or secondary
lactose intolerance
lactose intolerance is the inability of adults and children to digest lactose a sugar found in milk and to a lesser extent dairy products causing side effects it is due to a lactase deficiency or hypolactasia in extremely rare cases mainly limited to finland individuals have congenital alactasia a total absence of lactase caused by a genetic defect which prevents them from being able to digest lactose from infancy including breast milk
glycogen storage disease
glycogen storage disease type ii
glycogen storage disease type ii also called pompe disease ˈpɒmpə or acid maltase deficiency is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body it is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha glucosidase enzyme it is the only glycogen storage disease with a defect in lysosomal metabolism and the first glycogen storage disease to be identified in 1932 by the dutch pathologist j c pompe
glycogen storage disease type v
glycogen storage disease type v gsd v is a metabolic disorder more specifically a glycogen storage disease caused by a deficiency of myophosphorylase its incidence is reported as 1 in 100 000 approximately the same as glycogen storage disease type i gsd type v is also known as mcardle disease or muscle phosphorylase myophosphorylase deficiency the disease was first reported in 1951 by dr brian mcardle of guy s hospital london
glycogen storage disease type iii
glycogen storage disease type iii is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes it is also known as cori s disease in honor of the 1947 nobel laureates carl cori and gerty cori other names include forbes disease in honor of clinician gilbert burnett forbes 1915 2003 an american physician who further described the features of the disorder or limit dextrinosis due to the limit dextrin like structures in cytosol limit dextrin is the remaining polymer produced after hydrolysis of glycogen without glycogen debranching enzymes to further convert these branched glycogen polymers to glucose limit dextrinosis abnormally accumulates in the cytoplasm
glycogen storage disease type iii is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes it is also known as cori s disease in honor of the 1947 nobel laureates carl cori and gerty cori other names include forbes disease in honor of clinician gilbert burnett forbes 1915 2003 an american physician who further described the features of the disorder or limit dextrinosis due to the limit dextrin like structures in cytosol limit dextrin is the remaining polymer produced after hydrolysis of glycogen without glycogen debranching enzymes to further convert these branched glycogen polymers to glucose limit dextrinosis abnormally accumulates in the cytoplasm glycogen is a molecule the body uses to store carbohydrate energy symptoms of gsd iii are caused by a deficiency of the enzyme amylo 1 6 glucosidase or debrancher enzyme this causes excess amounts of an abnormal glycogen to be deposited in the liver muscles and in some cases the heart
glycogen storage disease type iv
glycogen storage disease type vi
glycogen storage disease type vi gsd vi is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system it is also known as hers disease after henri g hers who characterized it in 1959 the scope of gsd vi now also includes glycogen storage disease type viii ix caused by phosphorylase b kinase deficiency and x deficiency protein kinase a
glycogen storage disease type vi gsd vi is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system it is also known as hers disease after henri g hers who characterized it in 1959 the scope of gsd vi now also includes glycogen storage disease type viii ix caused by phosphorylase b kinase deficiency and x deficiency protein kinase a the incidence of gsd vi is approximately 1 case per 65 000 – 85 000 births representing approximately 30 all cases of glycogen storage disease approximately 75 of these gsd vi cases result from the x linked recessive forms of phosphorylase kinase deficiency all other forms are autosomal recessive
phosphofructokinase deficiency
phosphofructokinase deficiency also known as glycogen storage disease type vii or tarui s disease is a muscular metabolic disorder with an autosomal recessive inheritance pattern it may affect humans as well as other mammals especially dogs in humans it is the least common type of glycogen storage disease it was named after the japanese physician seiichiro tarui 1927 – who first observed the condition in 1965
glycogen storage disease type i
glycogen storage disease type i gsd i or von gierke s disease is the most common of the glycogen storage diseases this genetic disease results from deficiency of the enzyme glucose 6 phosphatase and has an incidence in the american population of approximately 1 in 50 000 to 100 000 births the disease was named after german doctor edgar von gierke
glycogen storage disease type i gsd i or von gierke s disease is the most common of the glycogen storage diseases this genetic disease results from deficiency of the enzyme glucose 6 phosphatase and has an incidence in the american population of approximately 1 in 50 000 to 100 000 births the deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis since these are the two principal metabolic mechanisms by which the liver supplies glucose to the rest of the body during periods of fasting it causes severe hypoglycemia and results in increased glycogen storage in liver and kidneys both organs function normally in childhood but are susceptible to a variety of problems in adult years other metabolic derangements include lactic acidosis and hyperlipidemia frequent or continuous feedings of cornstarch or other carbohydrates are the principal treatment other therapeutic measures may be needed for associated problems the disease was named after german doctor edgar von gierke
hereditary fructose intolerance
hereditary fructose intolerance hfi is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase b individuals affected with hfi are asymptomatic until they ingest fructose sucrose or sorbitol if fructose is ingested the enzymatic block at aldolase b causes an accumulation of fructose 1 phosphate this accumulation has downstream effects on gluconeogenesis and regeneration of adenosine triphosphate atp symptoms of hfi include vomiting hypoglycemia jaundice hemorrhage hepatomegaly hyperuricemia and potentially kidney failure while hfi is not clinically a devastating condition there are reported deaths in infants and children as a result of the metabolic consequences of hfi death in hfi is always associated with problems in diagnosis
hereditary fructose intolerance hfi is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase b individuals affected with hfi are asymptomatic until they ingest fructose sucrose or sorbitol if fructose is ingested the enzymatic block at aldolase b causes an accumulation of fructose 1 phosphate this accumulation has downstream effects on gluconeogenesis and regeneration of adenosine triphosphate atp symptoms of hfi include vomiting hypoglycemia jaundice hemorrhage hepatomegaly hyperuricemia and potentially kidney failure while hfi is not clinically a devastating condition there are reported deaths in infants and children as a result of the metabolic consequences of hfi death in hfi is always associated with problems in diagnosis hfi is an autosomal recessive condition caused by mutations in the aldob gene located at 9 q 22 3 hfi is typically suspected based on dietary history especially in infants who become symptomatic after breast feeding this suspicion is typically confirmed by molecular analysis treatment of hfi involves strict avoidance of fructose in the diet older patients with hfi typically self select a diet low in fructose even before being diagnosed
galactosemia
galactosemia british galactosaemia is a rare genetic metabolic disorder that affects an individual s ability to metabolize the sugar galactose properly galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation friedrich goppert 1870 – 1927 a german physician first described the disease in 1917 with its cause as a defect in galactose metabolism being identified by a group led by herman kalckar in 1956
galactosemia british galactosaemia is a rare genetic metabolic disorder that affects an individual s ability to metabolize the sugar galactose properly galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation friedrich goppert 1870 – 1927 a german physician first described the disease in 1917 with its cause as a defect in galactose metabolism being identified by a group led by herman kalckar in 1956 its incidence is about 1 per 60 000 births for people of european ancestry in other populations the incidence rate differs galactosaemia is about one hundred times more common 1 480 births within the irish traveller population
fructose malabsorption
fructose malabsorption formerly named dietary fructose intolerance dfi is a digestive disorder in which absorption of fructose is impaired by deficient fructose carriers in the small intestine s enterocytes this results in an increased concentration of fructose in the entire intestine fructose malabsorption is not to be confused with hereditary fructose intolerance a potentially fatal condition in which the liver enzymes that break up fructose are deficient
fructose malabsorption formerly named dietary fructose intolerance dfi is a digestive disorder in which absorption of fructose is impaired by deficient fructose carriers in the small intestine s enterocytes this results in an increased concentration of fructose in the entire intestine occurrence in patients identified to be suffering symptoms of irritable bowel syndrome is not higher than occurrence in the normal population however due to the similarity in symptoms patients with fructose malabsorption often fit the profile of those with irritable bowel syndrome in some cases fructose malabsorption may be caused by several diseases which cause an intestinal damage such as celiac disease fructose malabsorption is not to be confused with hereditary fructose intolerance a potentially fatal condition in which the liver enzymes that break up fructose are deficient
sucrose intolerance
sucrose intolerance also called congenital sucrase isomaltase deficiency csid or sucrase isomaltase deficiency is the condition in which sucrase an enzyme needed for proper metabolism of sucrose sugar is not produced in the small intestine it is common among the inupiat people
renal glycosuria
lysosomal storage disease
lysosomal storage diseases lsds ˌlaɪsəˈsoʊməl are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling this process requires several critical enzymes if one of these enzymes is defective because of a mutation the large molecules accumulate within the cell eventually killing it
tay – sachs disease
tay – sachs disease also known as gm 2 gangliosidosis or hexosaminidase a deficiency is a rare autosomal recessive genetic disorder in its most common variant known as infantile tay – sachs disease it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around 7 months of age and usually results in death by the age of four the disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain s nerve cells eventually leading to the premature death of the cells a ganglioside is a form of sphingolipid which makes tay – sachs disease a member of the sphingolipidoses there is no known cure or treatment
tay – sachs disease also known as gm 2 gangliosidosis or hexosaminidase a deficiency is a rare autosomal recessive genetic disorder in its most common variant known as infantile tay – sachs disease it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around 7 months of age and usually results in death by the age of four the disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain s nerve cells eventually leading to the premature death of the cells a ganglioside is a form of sphingolipid which makes tay – sachs disease a member of the sphingolipidoses there is no known cure or treatment the disease is named after the british ophthalmologist waren tay who in 1881 first described a symptomatic red spot on the retina of the eye and after the american neurologist bernard sachs of mount sinai hospital who described in 1887 the cellular changes of tay – sachs disease and noted an increased disease prevalence in ashkenazi jews research in the late 20 th century demonstrated that tay – sachs disease is caused by a genetic mutation in the hexa gene on chromosome 15 a large number of hexa mutations have been discovered and new ones are still being reported these mutations reach significant frequencies in specific populations french canadians of southeastern quebec have a carrier frequency similar to that seen in ashkenazi jews but carry a different mutation cajuns of southern louisiana carry the same mutation that is seen most commonly in ashkenazi jews hexa mutations are rare and are most seen in genetically isolated populations tay – sachs can occur from the inheritance of either two similar or two unrelated causative mutations in the hexa gene as an autosomal recessive disorder two tay – sachs alleles are required for an individual to exhibit symptoms of the disease carriers of a single tay – sachs allele do not exhibit symptoms of the disease but appear to be protected to some extent against tuberculosis this accounts for the persistence of the allele in certain populations in that it confers a selective advantage — in other words being a heterozygote is advantageous
sandhoff disease
sandhoff disease also known as sandhoff jatzkewitz disease variant 0 of gm 2 gangliosidosis or hexosaminidase a and b deficiency is a lysosomal genetic lipid storage disorder caused by the inherited deficiency to create functional beta hexosaminidases a and b these catabolic enzymes are needed to degrade the neuronal membrane components ganglioside gm 2 its derivative ga 2 the glycolipid globoside in visceral tissues and some oligosaccharides accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death the rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from tay sachs disease another genetic disorder that disrupts beta hexosaminidases a and s there are three subsets of sandhof
gangliosidosis
gangliosidosis is a sub category of sphingolipidosis that contains two different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides there are two distinct genetic causes of the disease both are autosomal recessive and affect males and females equally
canavan disease
canavan disease also called canavan van bogaert bertrand disease is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain and is one of the most common degenerative cerebral diseases of infancy it is caused by a deficiency of the enzyme aminoacylase 2 and is one of a group of genetic diseases referred to as a leukodystrophies it is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17
pelizaeus – merzbacher disease
pelizaeus – merzbacher disease pmd is a rare central nervous system disorder in which coordination motor abilities and intellectual function are delayed to variable extents
alexander disease
krabbe disease
leukodystrophy
leukodystrophy is one of a group of disorders characterized by degeneration of the white matter in the brain the word leukodystrophy comes from the greek roots leuko white dys lack of and troph growth the leukodystrophies are caused by imperfect growth or development of the myelin sheath the fatty covering that acts as an insulator around nerve fibers
gaucher s disease
gaucher s disease or gaucher disease ɡoʊˈʃeɪ gd is a genetic disorder in which glucocerebroside a sphingolipid also known as glucosylceramide accumulates in cells and certain organs the disorder is characterized by bruising fatigue anemia low blood platelet count and enlargement of the liver and spleen and is caused by a hereditary deficiency of the enzyme glucocerebrosidase also known as glucosylceramidase which acts on glucocerebroside when the enzyme is defective glucocerebroside accumulates particularly in white blood cells and especially in macrophages mononuclear leukocytes glucocerebroside can collect in the spleen liver kidneys lungs brain and bone marrow
gaucher s disease or gaucher disease ɡoʊˈʃeɪ gd is a genetic disorder in which glucocerebroside a sphingolipid also known as glucosylceramide accumulates in cells and certain organs the disorder is characterized by bruising fatigue anemia low blood platelet count and enlargement of the liver and spleen and is caused by a hereditary deficiency of the enzyme glucocerebrosidase also known as glucosylceramidase which acts on glucocerebroside when the enzyme is defective glucocerebroside accumulates particularly in white blood cells and especially in macrophages mononuclear leukocytes glucocerebroside can collect in the spleen liver kidneys lungs brain and bone marrow manifestations may include enlarged spleen and liver liver malfunction skeletal disorders or bone lesions that may be painful severe neurological complications swelling of lymph nodes and occasionally adjacent joints distended abdomen a brownish tint to the skin anemia low blood platelet count and yellow fatty deposits on the white of the eye sclera persons seriously affected may also be more susceptible to infection some forms of gaucher s disease may be treated with enzyme replacement therapy the disease is caused by a recessive mutation in the gba gene located on chromosome 1 and affects both males and females about one in 100 people in the united states are carriers of the most common type of gaucher disease the carrier rate among ashkenazi jews is 8 9 while the birth incidence is one in 450 gaucher s disease is the most common of the lysosomal storage diseases it is a form of sphingolipidosis a subgroup of lysosomal storage diseases as it involves dysfunctional metabolism of sphingolipids the disease is named after the french physician philippe gaucher who originally described it in 1882
niemann – pick disease
niemann – pick disease niːmənˈpɪk nee mən pik is a group of inherited severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells the lysosomes normally transport material through and out of the cell the prognosis is individual but the severe form is fatal in toddlerhood and in some cases patients with the milder forms may have normal lifespans
farber disease
farber disease also known as farber s lipogranulomatosis ceramidase deficiency fibrocytic dysmucopolysaccharidosis and lipogranulomatosis is an extremely rare 80 cases reported worldwide to this day autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids leading to abnormalities in the joints liver throat tissues and central nervous system normally the enzyme ceramidase breaks down fatty material in the body ’ s cells in farber disease the gene responsible for making this enzyme is mutated hence the fatty material is never broken down and instead accumulates in various parts of the body leading to the signs and symptoms of this disorder
fabry disease
metachromatic leukodystrophy
metachromatic leukodystrophy mld also called arylsulfatase a deficiency is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids leukodystrophies affect the growth and or development of myelin the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems mld involves cerebroside sulfate accumulation metachromatic leukodystrophy like most enzyme deficiencies has an autosomal recessive inheritance pattern
sphingolipidoses
sphingolipidoses singular sphingolipidosis are a class of lipid storage disorders relating to sphingolipid metabolism the main members of this group are niemann – pick disease fabry disease krabbe disease gaucher disease tay – sachs disease and metachromatic leukodystrophy they are generally inherited in an autosomal recessive fashion but notably fabry disease is x linked recessive taken together sphingolipidoses have an incidence of approximately 1 in 10 000 but substantially more in certain populations such as ashkenazi jews enzyme replacement therapy is available to treat mainly fabry disease and gaucher disease and people with these types of sphingolipidoses may live well into adulthood the other types are generally fatal by age 1 to 5 years for infantile forms but progre
sphingolipidoses singular sphingolipidosis are a class of lipid storage disorders relating to sphingolipid metabolism the main members of this group are niemann – pick disease fabry disease krabbe disease gaucher disease tay – sachs disease and metachromatic leukodystrophy they are generally inherited in an autosomal recessive fashion but notably fabry disease is x linked recessive taken together sphingolipidoses have an incidence of approximately 1 in 10 000 but substantially more in certain populations such as ashkenazi jews enzyme replacement therapy is available to treat mainly fabry disease and gaucher disease and people with these types of sphingolipidoses may live well into adulthood the other types are generally fatal by age 1 to 5 years for infantile forms but progression may be mild for juvenile or adult onset forms
neuronal ceroid lipofuscinosis
cerebrotendineous xanthomatosis
cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis ctx also called cerebral cholesterosis is an autosomal recessive form of xanthomatosis it falls within a group of genetic disorders called the leukodystrophies
lysosomal acid lipase deficiency
lysosomal acid lipase deficiency or lal deficiency or lal d happens when the body does not produce enough active lysosomal acid lipase lal enzyme this enzyme plays an important role in breaking down fatty material cholesteryl esters and triglycerides in the body infants children and adults that suffer from lal deficiency experience a range of serious health problems the lack of the lal enzyme can lead to a build up of fatty material in a number of body organs including the liver spleen gut in the wall of blood vessels and other important organs
mucopolysaccharidosis
mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans these long chains of sugar carbohydrates occur within the cells that help build bone cartilage tendons corneas skin and connective tissue glycosaminoglycans formerly called mucopolysaccharides are also found in the fluids that lubricate joints
mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans these long chains of sugar carbohydrates occur within the cells that help build bone cartilage tendons corneas skin and connective tissue glycosaminoglycans formerly called mucopolysaccharides are also found in the fluids that lubricate joints subjects with a mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules or they produce enzymes that do not work properly over time these glycosaminoglycans collect in the cells blood and connective tissues the result is permanent progressive cellular damage which affects appearance physical abilities organ and system functioning and in most cases mental development the mucopolysaccharidoses are part of the lysosomal storage disease family a group of more than 40 genetic disorders that result when the lysosome organelle in animal cells malfunctions the lysosome can be thought of as the cell s recycling center because it processes unwanted material into other substances that the cell can utilize lysosomes break down this unwanted matter via enzymes highly specialized proteins essential for survival lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether
hunter syndrome
hunter syndrome or mucopolysaccharidosis ii mps ii is a lysosomal storage disease caused by a deficient or absent enzyme iduronate 2 sulfatase i 2 s the accumulated substrates in hunter syndrome are heparan sulfate and dermatan sulfate the syndrome has x linked recessive inheritance
sanfilippo syndrome
maroteaux – lamy syndrome
maroteaux – lamy syndrome also known as mucopolysaccharidosis type vi mps vi or polydystrophic dwarfism is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase b arsb it is named after pierre maroteaux 1926 and his mentor maurice emil joseph lamy 1895 1975 both french physicians
morquio syndrome
morquio syndrome referred to as mucopolysaccharidosis iv mps iv morquio brailsford syndrome or morquio is an autosomal recessive mucopolysaccharide storage disease see also lysosomal storage disorder usually inherited it is a rare type of birth defect with serious consequences in the us the incidence rate for morquio is estimated at between 1 in 200 000 and 1 in 300 000 live births when the body cannot process certain types of mucopolysaccharides they build up or are eliminated causing various symptoms these involve accumulation of keratan sulfate
glycoproteinosis
glycoproteinosis are lysosomal storage diseases affecting glycoproteins resulting from defects in lysosomal function the term is sometimes reserved for conditions involving degradation of glycoproteins
i cell disease
inclusion cell i cell disease also referred to as mucolipidosis ii ml ii is part of the lysosomal storage disease family and results from a defective phosphotransferase an enzyme of the golgi apparatus this enzyme transfers phosphate to mannose residues on specific proteins and serves as a marker for them to be targeted to lysosomes within the cell without this marker the proteins are instead excreted outside the cell — the default pathway for proteins moving through the golgi apparatus lysosomes cannot function without these proteins which function as catabolic enzymes for the normal breakdown of substances e g oligosaccharides lipids and glycosaminoglycans in various tissues throughout the body i e fibroblasts as a result a buildup of these substances occurs within
mucolipidosis
mucolipidosis ml is a group of inherited metabolic disorders that affect the body s ability to carry out the normal turnover of various materials within cells when originally named the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses a biochemical understanding of these conditions has changed how they are classified although four conditions i ii iii and iv have been labeled as mucolipidoses type i sialidosis is now classified as a glycoproteinosis and type iv mucolipidosis type iv is now classified as a gangliosidosis
schindler disease
schindler disease also known as kanzaki disease and alpha n acetylgalactosaminidase deficiency is a rare disease found in humans this lysosomal storage disorder is caused by a deficiency in the enzyme alpha naga alpha n acetylgalactosaminidase attributable to mutations in the naga gene on chromosome 22 which leads to excessive lysosomal accumulation of glycoproteins a deficiency of the alpha naga enzyme leads to an accumulation of glycosphingolipids throughout the body this accumulation of sugars gives rise to the clinical features associated with this disorder schindler disease is an autosomal recessive disorder meaning that one must inherit an abnormal allele from both parents in order to have the disease
fucosidosis
fucosidosis is a rare lysosomal storage disorder in which the fuca 1 gene experiences mutations that severely reduce or stop the activity of the alpha l fucosidase enzyme the result is a buildup of complex sugars in parts of the body which leads to death fucosidosis is one of nine identified glycoprotein storage diseases the gene encoding the alpha fucosidase fuca 1 was found to be located to the short arm of chromosome 1 p 36 p 34 by carrit and co workers in 1982
alpha mannosidosis
alpha mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha d mannosidase in humans it is known to be caused by an autosomal recessive genetic mutation in livestock it is caused by chronic poisoning with swainsonine from locoweed
galactosialidosis
galactosialidosis is a lysosomal storage disease this condition is rare and most cases have been in the juvenile adult group of patients an infantile form has been described
congenital disorder of glycosylation
hyperlipidemia
hyperlipidemia is abnormally elevated levels of any or all lipids and or lipoproteins in the blood it is the most common form of dyslipidemia which includes any abnormal lipid levels lipids water insoluble molecules are transported in a protein capsule the size of that capsule or lipoprotein determines its density the lipoprotein density and type of apolipoproteins it contains determines the fate of the particle and its influence on metabolism
hyperlipidemia is abnormally elevated levels of any or all lipids and or lipoproteins in the blood it is the most common form of dyslipidemia which includes any abnormal lipid levels lipids water insoluble molecules are transported in a protein capsule the size of that capsule or lipoprotein determines its density the lipoprotein density and type of apolipoproteins it contains determines the fate of the particle and its influence on metabolism hyperlipidemias are divided into primary and secondary subtypes primary hyperlipidemia is usually due to genetic causes such as a mutation in a receptor protein while secondary hyperlipidemia arises due to other underlying causes such as diabetes lipid and lipoprotein abnormalities are common in the general population and are regarded as a modifiable risk factor for cardiovascular disease due to their influence on atherosclerosis in addition some forms may predispose to acute pancreatitis
dyslipidemia
dyslipidemia is an abnormal amount of lipids e g triglycerides cholesterol and or fat phospholipids in the blood in developed countries most dyslipidemias are hyperlipidemias that is an elevation of lipids in the blood this is often due to diet and lifestyle prolonged elevation of insulin levels can also lead to dyslipidemia likewise increased levels of o glcnac transferase ogt may cause dyslipidemia
sitosterolemia
sitosterolemia also known as phytosterolemia is a rare autosomal recessively inherited lipid metabolic disorder it is characterized by hyperabsorption and decreased biliary excretion of dietary sterols leading to hypercholesterolemia tendon and tuberous xanthomas premature development of atherosclerosis and abnormal hematologic and liver function test results
hypercholesterolemia
hypercholesterolemia also called dyslipidemia is the presence of high levels of cholesterol in the blood it is a form of high blood lipids and hyperlipoproteinemia elevated levels of lipoproteins in the blood elevated levels of non hdl cholesterol and ldl in the blood may be a consequence of diet obesity inherited genetic diseases such as ldl receptor mutations in familial hypercholesterolemia or the presence of other diseases such as diabetes and an underactive thyroid
hypercholesterolemia also called dyslipidemia is the presence of high levels of cholesterol in the blood it is a form of high blood lipids and hyperlipoproteinemia elevated levels of lipoproteins in the blood elevated levels of non hdl cholesterol and ldl in the blood may be a consequence of diet obesity inherited genetic diseases such as ldl receptor mutations in familial hypercholesterolemia or the presence of other diseases such as diabetes and an underactive thyroid cholesterol is one of three major classes of lipids which all animal cells use to construct their membranes and is thus manufactured by all animal cells plant cells do not manufacture cholesterol it is also the precursor of the steroid hormones and bile acids since cholesterol is insoluble in water it is transported in the blood plasma within protein particles lipoproteins lipoproteins are classified by their density very low density lipoprotein vldl low density lipoprotein ldl intermediate density lipoprotein idl and high density lipoprotein hdl all the lipoproteins carry cholesterol but elevated levels of the lipoproteins other than hdl termed non hdl cholesterol particularly ldl cholesterol are associated with an increased risk of atherosclerosis and coronary heart disease in contrast higher levels of hdl cholesterol are protective avoiding trans fats and replacing saturated fats in adult diets with polyunsaturated fats are recommended dietary measures to reduce total blood cholesterol and ldl in adults in people with very high cholesterol e g familial hypercholesterolemia diet is often not sufficient to achieve the desired lowering of ldl and lipid lowering medications are usually required if necessary other treatments such as ldl apheresis or even surgery for particularly severe subtypes of familial hypercholesterolemia are performed about 34 million adults in the united states have high blood cholesterol
hypertriglyceridemia
hypertriglyceridemia denotes high hyper blood levels emia of triglycerides the most abundant fatty molecule in most organisms elevated levels of triglycerides are associated with atherosclerosis even in the absence of hypercholesterolemia high cholesterol levels and predispose to cardiovascular disease very high triglyceride levels also increase the risk of acute pancreatitis hypertriglyceridemia itself is usually symptomless although high levels may be associated with skin lesions known as xanthomas
hypertriglyceridemia denotes high hyper blood levels emia of triglycerides the most abundant fatty molecule in most organisms elevated levels of triglycerides are associated with atherosclerosis even in the absence of hypercholesterolemia high cholesterol levels and predispose to cardiovascular disease very high triglyceride levels also increase the risk of acute pancreatitis hypertriglyceridemia itself is usually symptomless although high levels may be associated with skin lesions known as xanthomas the diagnosis is made on blood tests often performed as part of screening once diagnosed other blood tests are usually required to determine whether the raised triglyceride level is caused by other underlying disorders secondary hypertriglyceridemia or whether no such underlying cause exists primary hypertriglyceridaemia there is a hereditary predisposition to both primary and secondary hypertriglyceridemia weight loss and dietary modification may improve hypertriglyceridemia the decision to treat hypertriglyceridemia with medication depends on the levels and on the presence of other risk factors for cardiovascular disease very high levels that would increase the risk of pancreatitis is treated with a drug from the fibrate class niacin and omega 3 fatty acids as well as drugs from the statin class may be used in conjunction with statins being the main drug treatment for moderate hypertriglyceridemia where reduction of cardiovascular risk is required
xanthoma
a xanthoma pl xanthomas or xanthomata condition xanthomatosis from greek xanthos ξανθος yellow is a deposition of yellowish cholesterol rich material that can appear anywhere in the body in various disease states they are cutaneous manifestations of lipidosis in which lipids accumulate in large foam cells within the skin they are associated with hyperlipidemias both primary and secondary types
abetalipoproteinemia
tangier disease
urbach – wiethe disease
urbach – wiethe disease also known as lipoid proteinosis and hyalinosis cutis et mucosae is a rare recessive genetic disorder with approximately 400 reported cases since its discovery it was first officially reported in 1929 by erich urbach and camillo wiethe although cases may be recognized dating back as early as 1908
hyperuricemia
hyperuricemia is an abnormally high level of uric acid in the blood in the ph conditions of body fluid uric acid exists largely as urate the ion form the amount of urate in the body depends on the balance between the amount of purines eaten in food the amount of urate synthesised within the body e g through cell turnover and the amount of urate that is excreted in urine or through the gastrointestinal tract in humans the upper end of the normal range is 360 µmol l 6 mg dl for women and 400 µmol l 6 8 mg dl for men
lesch – nyhan syndrome
lesch – nyhan syndrome lns also known as nyhan s syndrome and juvenile gout is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine guanine phosphoribosyltransferase hgprt produced by mutations in the hprt gene located on the x chromosome lns affects about one in 380 000 live births the disorder was first recognized and clinically characterized by medical student michael lesch and his mentor pediatrician william nyhan who published their findings in 1964
xanthinuria
xanthinuria also known as xanthine oxidase deficiency is a rare genetic disorder causing the accumulation of xanthine it is caused by a deficiency of the enzyme xanthine oxidase it was first formally characterized in 1954
gunther disease
gunther disease also known as congenital erythropoietic porphyria cep uroporphyrinogen iii synthase deficiency and uros deficiency is a congenital form of erythropoietic porphyria the word porphyria originated from the greek word porphura porphura actually means “ purple pigment ” which in suggestion the color that the body fluid changes when a person has gunther ’ s disease it is a rare autosomal recessive metabolic disorder affecting heme caused by deficiency of the enzyme uroporphyrinogen cosynthetase it is extremely rare with a prevalence estimated at 1 in 1 000 000 or less there have been times that prior to birth of a fetus gunther s disease has been shown to lead to anemia in milder cases patients have not presented any symptoms until they have reached adulthood in gu
gunther disease also known as congenital erythropoietic porphyria cep uroporphyrinogen iii synthase deficiency and uros deficiency is a congenital form of erythropoietic porphyria the word porphyria originated from the greek word porphura porphura actually means “ purple pigment ” which in suggestion the color that the body fluid changes when a person has gunther ’ s disease it is a rare autosomal recessive metabolic disorder affecting heme caused by deficiency of the enzyme uroporphyrinogen cosynthetase it is extremely rare with a prevalence estimated at 1 in 1 000 000 or less there have been times that prior to birth of a fetus gunther s disease has been shown to lead to anemia in milder cases patients have not presented any symptoms until they have reached adulthood in gunther s disease porphyrins are accumulated in the teeth and bones and an increased amount are seen in the plasma bone marrow feces red blood cells and urine
erythropoietic protoporphyria
porphyria
porphyria is a group of rare diseases in which chemical substances called porphyrins accumulate leading to either skin changes or neurological symptoms or sometimes both the body requires porphyrins to produce heme which carries oxygen in the blood but in the porphyrias there is a deficiency inherited or acquired of the enzymes that transform the various porphyrins into others leading to abnormally high levels of one or more of these substances
porphyria cutanea tarda
porphyria cutanea tarda pct is the most common subtype of porphyria the disease is named because it is a porphyria that often presents with skin manifestations later in life the disorder results from low levels of the enzyme responsible for the fifth step in heme production heme is a vital molecule for all of the body s organs it is a component of hemoglobin the molecule that carries oxygen in the blood hepatoerythropoietic porphyria has been described as a homozygous form of porphyria cutanea tarda although it can also be caused if two different mutations occur at the same locus
acute intermittent porphyria
acute intermittent porphyria aip is a rare autosomal dominant metabolic disorder affecting the production of heme the oxygen binding prosthetic group of hemoglobin it is characterized by a deficiency of the enzyme porphobilinogen deaminase acute intermittent porphyria is the second most common form of porphyria porphyria cutanea tarda being the most common its incidence is estimated to be between 5 and 10 in 100 000 but this is likely underestimated because of positive cases not being induced and long periods of latency with an estimation that it is latent in 90 of cases
hereditary coproporphyria
hereditary coproporphyria hcp is a disorder of heme biosynthesis classified as an acute hepatic porphyria hcp is caused by a deficiency of the enzyme coproporphyrinogen oxidase coded for by the cpox gene and is inherited in an autosomal dominant fashion although homozygous individuals have been identified unlike acute intermittent porphyria individuals with hcp can present with cutaneous findings similar to those found in porphyria cutanea tarda in addition to the acute attacks of abdominal pain vomiting and neurological dysfunction characteristic of acute porphyrias like other porphyrias attacks of hcp can be induced by certain drugs environmental stressors or diet changes biochemical and molecular testing can be used to narrow down the diagnosis of a porphyria and identify
hereditary coproporphyria hcp is a disorder of heme biosynthesis classified as an acute hepatic porphyria hcp is caused by a deficiency of the enzyme coproporphyrinogen oxidase coded for by the cpox gene and is inherited in an autosomal dominant fashion although homozygous individuals have been identified unlike acute intermittent porphyria individuals with hcp can present with cutaneous findings similar to those found in porphyria cutanea tarda in addition to the acute attacks of abdominal pain vomiting and neurological dysfunction characteristic of acute porphyrias like other porphyrias attacks of hcp can be induced by certain drugs environmental stressors or diet changes biochemical and molecular testing can be used to narrow down the diagnosis of a porphyria and identify the specific genetic defect overall porphyrias are rare diseases the combined incidence for all forms of the disease has been estimated at 1 20 000 the exact incidence of hcp is difficult to determine due to its reduced penetrance
variegate porphyria
acatalasia
acatalasia also called acatalasemia or takahara s disease is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase
gilbert s syndrome
gilbert s syndrome gs is a common genetic liver disorder found in 3 12 of the population it produces elevated levels of unconjugated bilirubin in the bloodstream hyperbilirubinemia but this normally has no serious consequences although mild jaundice may appear under conditions of exertion or stress
crigler – najjar syndrome
crigler – najjar syndrome or cns is a rare inherited disorder affecting the metabolism of bilirubin a chemical formed from the breakdown of the heme in red blood cells the disorder results in a form of nonhemolytic jaundice which results in high levels of unconjugated bilirubin and often leads to brain damage in infants the disorder is inherited in an autosomal recessive manner
rotor syndrome
rotor syndrome also called rotor type hyperbilirubinemia is a rare relatively benign autosomal recessive bilirubin disorder it is a distinct yet similar disorder to dubin – johnson syndrome — both diseases cause an increase in conjugated bilirubin
dubin – johnson syndrome
dubin – johnson syndrome djs is a rare autosomal recessive benign disorder that causes an isolated increase of conjugated bilirubin in the serum classically the condition causes a black liver due to the deposition of a pigment similar to melanin this condition is associated with a defect in the ability of hepatocytes to secrete conjugated bilirubin into the bile and is similar to rotor syndrome it is usually asymptomatic but may be diagnosed in early infancy based on laboratory tests no treatment is usually needed
menkes disease
menkes disease mnk also known as menkes syndrome is an x linked recessive disorder that affects copper levels in the body leading to copper deficiency the onset of menkes disease typically begins during infancy affecting about 1 in 100 000 to 250 000 newborns infants with mnk syndrome often do not live past the age of 3 it is more common in males than females because it only takes one copy of the x linked recessive gene to be expressed for a male to develop the disease in order for females to develop the disorder they would need to express two copies of the gene one on each x chromosome to develop the disorder mnk is characterized by kinky hair growth failure and deterioration of the nervous system it is caused by mutations in the copper transport gene atp 7 a which is resp
wilson s disease
wilson s disease is an autosomal recessive genetic disorder in which copper accumulates in tissues this manifests as neurological or psychiatric symptoms and liver disease it is treated with medication that reduces copper absorption or removes the excess copper from the body but occasionally a liver transplant is required
wilson s disease is an autosomal recessive genetic disorder in which copper accumulates in tissues this manifests as neurological or psychiatric symptoms and liver disease it is treated with medication that reduces copper absorption or removes the excess copper from the body but occasionally a liver transplant is required the condition is due to mutations in the wilson disease protein atp 7 b gene a single abnormal copy of the gene is present in 1 in 100 people who do not develop any symptoms they are carriers if a child inherits the gene from both parents the child may develop wilson s disease symptoms usually appear between the ages of 6 and 20 years but cases in much older people have been described wilson s disease occurs in 1 to 4 per 100 000 people it is named after samuel alexander kinnier wilson 1878 – 1937 the british neurologist who first described the condition in 1912
aceruloplasminemia
acrodermatitis enteropathica
hypophosphatasia
hypophosphatasia is a rare and sometimes fatal metabolic bone disease clinical symptoms are heterogeneous ranging from the rapidly fatal perinatal variant with profound skeletal hypomineralization and respiratory compromise to a milder progressive osteomalacia later in life tissue non specific alkaline phosphatase tnsalp deficiency in osteoblasts and chondrocytes impairs bone mineralization leading to rickets or osteomalacia the pathognomonic finding is subnormal serum activity of the tnsalp enzyme which is caused by one of 200 genetic mutations identified to date in the gene encoding tnsalp genetic inheritance is autosomal recessive for the perinatal and infantile forms but either autosomal recessive or autosomal dominant in the milder forms the prevalence of hypophosphat
hypophosphatemia
hypophosphatemia is an electrolyte disturbance in which there is an abnormally low level of phosphate in the blood the condition has many causes but is most commonly seen when malnourished patients especially chronic alcoholics are given large amounts of carbohydrates which creates a high phosphorus demand by cells removing phosphate from the blood refeeding syndrome
hypermagnesemia
hypermagnesemia is an electrolyte disturbance in which there is a high level of magnesium in the blood it is defined as a level greater than 1 1 mmol l symptoms include weakness confusion decreased breathing rate and cardiac arrest hypermagnesemia can occur in kidney failure and those who are given magnesium salts or who take drugs that contain magnesium e g some antacids and laxatives it is usually concurrent with other electrolyte disturbances such as a low blood calcium and or high blood potassium level specific electrocardiogram ecg changes may be present
hypercalcaemia
hypercalcaemia also spelled hypercalcemia is a high calcium ca 2 level in the blood serum the normal range is 2 1 – 2 6 mmol l 8 8 – 10 7 mg dl 4 3 – 5 2 meq l with levels greater than 2 6 mmol l defined as hypercalcemia those with a mild increase that has developed slowly typically have no symptoms in those with greater levels or rapid onset symptoms may include abdominal pain bone pain confusion depression weakness kidney stones or an abnormal heart rhythm including cardiac arrest
hypocalcaemia
hypocalcaemia also spelled hypocalcemia is low calcium levels in the blood serum the normal range is 2 1 – 2 6 mmol l 8 8 – 10 7 mg dl 4 3 – 5 2 meq l with levels less than 2 1 mmol l defined as hypocalcemia mildly low levels that develop slowly often have no symptoms otherwise symptoms may include numbness muscle spasms seizures confusion or cardiac arrest
nephrocalcinosis
nephrocalcinosis once known as albright s calcinosis after fuller albright or anderson carr kidneys is a term originally used to describe deposition of calcium salts in the renal parenchyma due to hyperparathyroidism it is now more commonly used to describe diffuse fine renal parenchymal calcification on radiology during its early stages nephrocalcinosis is visible on x ray and appears as a fine granular mottling over the renal outlines these outlines eventually come together to form a dense mass it is most commonly seen as an incidental finding with medullary sponge kidney on an abdominal x ray however it may be severe enough to cause as well as be caused by renal tubular acidosis or even end stage renal failure due to disruption of the renal tissue by the deposited calcium
cystic fibrosis
cystic fibrosis cf is a genetic disorder that affects mostly the lungs but also the pancreas liver kidneys and intestine long term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections other signs and symptoms include sinus infections poor growth fatty stool clubbing of the fingers and toes and infertility in males among others different people may have different degrees of symptoms
cystic fibrosis cf is a genetic disorder that affects mostly the lungs but also the pancreas liver kidneys and intestine long term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections other signs and symptoms include sinus infections poor growth fatty stool clubbing of the fingers and toes and infertility in males among others different people may have different degrees of symptoms cf is inherited in an autosomal recessive manner it is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator cftr protein those with a single working copy are carriers and otherwise mostly normal cftr is involved in production of sweat digestive fluids and mucus when cftr is not functional secretions which are usually thin instead become thick the condition is diagnosed by a sweat test and genetic testing screening of infants at birth takes place in some areas of the world no cure for cystic fibrosis is known lung infections are treated with antibiotics which may be given intravenously inhaled or by mouth sometimes the antibiotic azithromycin is used long term inhaled hypertonic saline and salbutamol may also be useful lung transplantation may be an option if lung function continues to worsen pancreatic enzyme replacement and fat soluble vitamin supplementation are important especially in the young airway clearance techniques such as chest physiotherapy have some short term benefit but long term effects are unclear the average life expectancy is between 42 and 50 years in the developed world lung problems are responsible for death in 80 of people with cystic fibrosis cf is most common among people of northern european ancestry and affects about one out of every 3 000 newborns about one in 25 people is a carrier it is least common in africans and asians it was first recognized as a specific disease by dorothy andersen in 1938 with descriptions that fit the condition occurring at least as far back as 1595 the name cystic fibrosis refers to the characteristic fibrosis and cysts that form within the pancreas
amyloidosis
amyloidosis is a rare and serious disease caused by accumulation of proteins in the form of abnormal insoluble fibres known as amyloid fibrils within the extracellular space in the tissues of the body amyloid deposits can be confined to only one part of the body or a single organ system in local amyloidosis or they can be widely distributed in organs and tissues throughout the body in systemic amyloidosis the symptoms of amyloidosis are accordingly highly variable and confirmation of the presence of amyloid in the tissues can be challenging so that diagnosis is often delayed
amyloidosis is a rare and serious disease caused by accumulation of proteins in the form of abnormal insoluble fibres known as amyloid fibrils within the extracellular space in the tissues of the body amyloid deposits can be confined to only one part of the body or a single organ system in local amyloidosis or they can be widely distributed in organs and tissues throughout the body in systemic amyloidosis the symptoms of amyloidosis are accordingly highly variable and confirmation of the presence of amyloid in the tissues can be challenging so that diagnosis is often delayed amyloid fibrils are formed by aggregation clumping of normally soluble body proteins and accumulate progressively forming amyloid deposits which disrupt the normal tissue architecture damaging the function of tissues and organs and causing disease in contrast to the normally efficient clearance of abnormal debris from the tissues amyloid deposits are removed very slowly if at all there are many different types of amyloidosis each caused by formation of amyloid fibrils from different soluble precursor proteins in different patients about 30 different proteins are known to form amyloid fibrils in humans and amyloidosis is named and classified according to the identity of the respective fibril protein
familial mediterranean fever
familial mediterranean fever fmf also known as armenian disease is a hereditary inflammatory disorder fmf is an autoinflammatory disease caused by mutations in mefv a gene which encodes a 781 – amino acid protein denoted pyrin while all ethnic groups are susceptible to fmf it usually occurs in people of mediterranean origin — including sephardic jews armenians arabs greeks and italians
muckle – wells syndrome
muckle – wells syndrome mws also known as urticaria deafness amyloidosis syndrome uda is a rare autosomal dominant disease which causes sensorineural deafness recurrent hives and can lead to amyloidosis individuals with mws often have episodic fever chills and joint pain as a result mws is considered a type of periodic fever syndrome mws is caused by a defect in the cias 1 gene which creates the protein cryopyrin mws is closely related to two other syndromes familial cold urticaria and neonatal onset multisystem inflammatory disease — in fact all three are related to mutations in the same gene and subsumed under the term cryopyrin associated periodic syndromes caps
dehydration
dehydration refers to a deficit of total body water with an accompanying disruption of metabolic processes dehydration is also a cause for hypernatremia the term dehydration is distinct from hypovolemia loss of blood volume particularly plasma
hypovolemia
water – electrolyte imbalance
the most serious electrolyte disturbances involve abnormalities in the levels of sodium potassium or calcium other electrolyte imbalances are less common and often occur in conjunction with major electrolyte changes chronic laxative abuse or severe diarrhea or vomiting gastroenteritis can lead to electrolyte disturbances along with dehydration people suffering from bulimia or anorexia nervosa are at especially high risk for an electrolyte imbalance
hypernatremia
hypernatremia also spelled hypernatraemia is a high sodium level in the blood early symptoms may include a strong feeling of thirst weakness nausea and loss of appetite severe symptoms include confusion muscle twitching and bleeding in or around the brain normal serum sodium levels are 135 145 mmol l 135 145 meq l hypernatremia is generally defined as a serum sodium level of more than 145 mmol l severe symptoms typically only occur when levels are above 160 mmol l
hypernatremia also spelled hypernatraemia is a high sodium level in the blood early symptoms may include a strong feeling of thirst weakness nausea and loss of appetite severe symptoms include confusion muscle twitching and bleeding in or around the brain normal serum sodium levels are 135 145 mmol l 135 145 meq l hypernatremia is generally defined as a serum sodium level of more than 145 mmol l severe symptoms typically only occur when levels are above 160 mmol l the cause of hypernatremia is typically classified by a person s fluid status into low volume normal volume and high volume low volume hypernatremia can occur from sweating vomiting diarrhea diuretic medication or kidney disease normal volume hypernatremia can be due to fever inappropriately decreased thirst a prolonged increased breath rate and diabetes insipidus from lithium among other causes high volume hypernatremia can be due to hyperaldosteronism be health care caused such as when too much intravenous 3 normal saline or sodium bicarb is given or rarely be from eating too much salt low blood protein levels can result in a falsely high sodium measurement the cause can usually be determined by the history of events testing the urine can help if the cause is unclear if the onset of hypernatremia was over a few hours than it can be corrected relatively quickly using intravenous normal saline and 5 dextrose otherwise correction should occur slowly with for those unable to drink water half normal saline hypernatremia due to diabetes insipidus as a result of a brain disorder may be treated with the medication desmopressin if the diabetes insipidus is due to kidney problems the medication which is causing it may need to be stopped hypernatremia affects 0 3 1 of people in hospital it most often occurs in babies those with impaired mental status and those who are old hypernatremia is associated with an increases the risk of death but it is unclear if it is the cause
hyponatremia
hyponatremia also spelled hyponatraemia is a low sodium level in the blood symptoms can vary from none to severe mild symptoms include a decreased ability to think headaches nausea and poor balance severe symptoms include confusion seizures and coma normal serum sodium levels are 135 145 mmol l 135 145 meq l hyponatremia is generally defined as a serum sodium level of less than 135 mmol l and is considered severe when the level is below 120 mmol l
hyponatremia also spelled hyponatraemia is a low sodium level in the blood symptoms can vary from none to severe mild symptoms include a decreased ability to think headaches nausea and poor balance severe symptoms include confusion seizures and coma normal serum sodium levels are 135 145 mmol l 135 145 meq l hyponatremia is generally defined as a serum sodium level of less than 135 mmol l and is considered severe when the level is below 120 mmol l the cause of hyponatremia is typically classified by a person s fluid status into low volume normal volume and high volume low volume hyponatremia can occur from diarrhea vomiting diuretics and sweating normal volume hyponatremia is divided into cases with dilute urine and concentrated urine cases in which the urine is dilute include adrenal insufficiency hypothyroidism and drinking too much water or too much beer cases in which the urine is concentrated include syndrome of inappropriate antidiuretic hormone secretion siadh high volume hyponatremia can occur from heart failure liver failure and kidney failure conditions that can lead to falsely low sodium measurements include high protein levels such as in multiple myeloma high blood fat levels and high blood sugar treatment is based on the underlying cause correcting hyponatremia too quickly can lead to complications rapid partial correction with 3 normal saline is only recommended in those with significant symptoms and occasionally those in whom the condition was of rapid onset low volume hyponatremia is typically treated with intravenous normal saline siadh is typically treated with fluid restriction while high volume hyponatremia is typically treated with both fluid restriction and a diet low in salt correction in those in whom the low levels have been present for more than two days should generally be gradual hyponatremia is one of the most commonly seen water – electrolyte imbalances it occurs in about 20 of those admitted to hospital and 10 of people during or after an endurance sporting event among those in hospital hyponatremia is associated with an increased risk of death the economic costs of hyponatremia are estimated at 2 6 billion in the united states
respiratory acidosis
respiratory acidosis is a medical emergency in which decreased ventilation hypoventilation increases the concentration of carbon dioxide in the blood and decreases the blood s ph a condition generally called acidosis carbon dioxide is produced continuously as the body s cells respire and this co 2 will accumulate rapidly if the lungs do not adequately expel it through alveolar ventilation alveolar hypoventilation thus leads to an increased paco 2 a condition called hypercapnia the increase in paco 2 in turn decreases the hco 3 − paco 2 ratio and decreases ph
lactic acidosis
lactic acidosis is a medical condition characterized by the buildup of lactate especially l lactate in the body with as a result an excessively low ph it is a subtype of metabolic acidosis where there is excessive acid due to a problem with the body s metabolism lactic acidosis is typically the result of an underlying acute or chronic medical condition medication or poisoning the symptoms are generally attributable to these underlying causes but may include nausea vomiting rapid deep breathing and generalised weakness
lactic acidosis is a medical condition characterized by the buildup of lactate especially l lactate in the body with as a result an excessively low ph it is a subtype of metabolic acidosis where there is excessive acid due to a problem with the body s metabolism lactic acidosis is typically the result of an underlying acute or chronic medical condition medication or poisoning the symptoms are generally attributable to these underlying causes but may include nausea vomiting rapid deep breathing and generalised weakness the diagnosis is made on biochemical analysis of blood often initially on arterial blood gas samples and once confirmed there is generally a need to establish the underlying cause to treat the acidosis in some situations hemofiltration purification of the blood is temporarily required in rare chronic forms of lactic acidosis caused by mitochondrial disease a specific diet or dichloroacetate may be used the prognosis of lactic acidosis depends largely on the underlying cause in some situations such as severe infections it indicates an increased risk of death
acidosis
acidosis is an increased acidity in the blood and other body tissue i e an increased hydrogen ion concentration if not further qualified it usually refers to acidity of the blood plasma acidosis is said to occur when arterial ph falls below 7 35 except in the fetus see below while its counterpart alkalosis occurs at a ph over 7 45 arterial blood gas analysis and other tests are required to separate the main causes
metabolic alkalosis
metabolic alkalosis is a metabolic condition in which the ph of tissue is elevated beyond the normal range 7 35 7 45 this is the result of decreased hydrogen ion concentration leading to increased bicarbonate or alternatively a direct result of increased bicarbonate concentrations
respiratory alkalosis
respiratory alkalosis is a medical condition in which increased respiration elevates the blood ph beyond the normal range 7 35 7 45 with a concurrent reduction in arterial levels of carbon dioxide this condition is one of the four basic categories of disruption of acid base homeostasis
alkalosis
alkalosis is the result of a process reducing hydrogen ion concentration of arterial blood plasma alkalemia in contrast to acidemia serum ph 7 35 or lower alkalemia occurs when the serum ph is higher than normal 7 45 or higher alkalosis is usually divided into the categories of respiratory alkalosis and metabolic alkalosis or a combined respiratory metabolic alkalosis
hyperkalemia
hyperkalemia also spelled hyperkalaemia is an elevated level of potassium k in the blood serum normal potassium levels are between 3 5 and 5 0 mmol l 3 5 and 5 0 meq l with levels above 5 5 mmol l defined as hyperkalemia typically this results in no symptoms occasionally when severe it results in palpitations muscle pain muscle weakness or numbness an abnormal heart rate can occur which can result in cardiac arrest and death
hypokalemia
hypokalemia also spelled hypokalaemia is a low level of potassium k in the blood serum normal potassium levels are between 3 5 and 5 0 mmol l 3 5 and 5 0 meq l with levels below 3 5 mmol l defined as hypokalemia mildly low levels do not typically cause symptoms symptoms may include feeling tired leg cramps weakness and constipation it increases the risk of an abnormal heart rhythm such as bradycardia and cardiac arrest
hypervolemia
hypervolemia or fluid overload is the medical condition where there is too much fluid in the blood the opposite condition is hypovolemia which is too little fluid volume in the blood fluid volume excess in the intravascular compartment occurs due to an increase in total body sodium content and a consequent increase in extracellular body water the mechanism usually stems from compromised regulatory mechanisms for sodium handling as seen in congestive heart failure chf kidney failure and liver failure it may also be caused by excessive intake of sodium from foods intravenous iv solutions and blood transfusions medications or diagnostic contrast dyes treatment typically includes administration of diuretics and restriction of the intake of water fluids sodium and salt
water intoxication
water intoxication also known as water poisoning or hyperhydration is a potentially fatal disturbance in brain functions that results when the normal balance of electrolytes in the body is pushed outside safe limits by overhydration water just like any other substance can be considered a poison when over consumed in a specific period of time water intoxication mostly occurs when water is being consumed in a high quantity without adequate electrolyte intake
alpha 1 antitrypsin deficiency
alpha 1 antitrypsin deficiency α 1 antitrypsin deficiency a 1 ad is a genetic disorder that causes defective production of alpha 1 antitrypsin a 1 at leading to decreased a 1 at activity in the blood and lungs and deposition of excessive abnormal a 1 at protein in liver cells there are several forms and degrees of deficiency the form and degree depend on whether the sufferer has one or two copies of a defective allele in the literature it has been described as either a recessive or co dominant trait as there is some evidence that smoking heterozygotes are affected severe a 1 at deficiency causes panacinar emphysema or copd in adult life in many people with the condition especially if they are exposed to cigarette smoke the disorder can lead to various liver diseases in a minority of chi
hypoalbuminemia
hypoalbuminemia or hypoalbuminaemia is a medical sign in which the level of albumin in the blood is abnormally low it is a type of hypoproteinemia albumin is a major protein in the human body making up about 55 60 of total human plasma protein by mass many hormones drugs and other molecules are mostly bound to albumin in the bloodstream and must be released before becoming biologically active for example calcium binds to albumin and hypoalbuminemia leads to an increase in free ionized calcium hypoalbuminemia may cause generalized edema swelling via a decrease in oncotic pressure
lipodystrophy
lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body s adipose tissue lipo is greek for fat and dystrophy is greek for abnormal or degenerative condition a more specific term lipoatrophy is used when describing the loss of fat from one area usually the face this condition is also characterized by a lack of circulating leptin which may lead to osteosclerosis
congenital generalized lipodystrophy
congenital generalized lipodystrophy also known as berardinelli – seip syndrome is an extremely rare autosomal recessive skin condition characterized by an extreme scarcity of fat in the subcutaneous tissues only 250 cases of the condition have been reported and it is estimated that it occurs in 1 in 10 million people worldwide
lipomatosis
lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on the body many discrete encapsulated lipomas form on the trunk and extremities with relatively few on the head and shoulders in 1993 a genetic polymorphism within lipomas was localized to chromosome 12 q 15 where the hmgic gene encodes the high mobility group protein isoform i c this is one of the most commonly found mutations in solitary lipomatous tumors but lipomas often have multiple mutations reciprocal translocations involving chromosomes 12 q 13 and 12 q 14 have also been observed within
adiposis dolorosa
adiposis dolorosa also known as dercum s disease or anders disease is a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue the tumors are normally painful and found in multiples on the extremities the understanding of the cause and mechanism of dercum disease remains unknown possible causes include nervous system dysfunction mechanical pressure on nerves adipose tissue dysfunction and trauma dercum s disease was first described at jefferson medical college by neurologist francis xavier dercum in 1892
tumor lysis syndrome
tumor lysis syndrome tls is a group of metabolic abnormalities that can occur as a complication during the treatment of cancer most commonly after the treatment of lymphomas and leukemias in oncology and hematology this is a potentially fatal complication and patients at increased risk for tls should be closely monitored before during and after their course of chemotherapy tumor lysis syndrome is characterized by high blood potassium hyperkalemia high blood phosphorus hyperphosphatemia low blood calcium hypocalcemia high blood uric acid hyperuricemia and higher than normal levels of blood urea nitrogen bun and other nitrogen containing compounds these changes in blood electrolytes and metabolites are a result of the release of cellular contents of dying cells into t
trimethylaminuria
trimethylaminuria tmau primary trimethylaminuria also known as fish odor syndrome or fish malodor syndrome is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin containing monooxygenase 3 fmo 3 when fmo 3 is not working correctly or if not enough enzyme is produced the body loses the ability to properly convert trimethylamine tma from precursor compounds in food digestion into trimethylamine oxide tmao through a process called n oxidation trimethylamine then builds up and is released in the person s sweat urine and breath giving off a strong fishy odor or strong body odor a variant of tmau secondary trimethylaminuria or tmau 2 exists where there is no genetic cause yet excessive tma is secreted possibly due to intestinal dy
metabolic syndrome
metabolic syndrome sometimes known by is a clustering of at least three of the five unfold into nine combination following medical conditions abdominal central obesity cf tofi elevated blood pressure elevated fasting plasma glucose high serum triglycerides low high density lipoprotein hdl levels metabolic syndrome is associated with the risk of developing cardiovascular disease and type 2 diabetes some studies have shown the prevalence in the usa to be an estimated 34 of the adult population and the prevalence increases with age
metabolic syndrome sometimes known by is a clustering of at least three of the five unfold into nine combination following medical conditions abdominal central obesity cf tofi elevated blood pressure elevated fasting plasma glucose high serum triglycerides low high density lipoprotein hdl levels metabolic syndrome is associated with the risk of developing cardiovascular disease and type 2 diabetes some studies have shown the prevalence in the usa to be an estimated 34 of the adult population and the prevalence increases with age insulin resistance metabolic syndrome and prediabetes are closely related to one another and have overlapping aspects the syndrome is thought to be caused by an underlying disorder of energy utilization and storage the cause of the syndrome is an area of ongoing medical research
dementia
dementia also known as senility is a broad category of brain diseases that cause a long term and often gradual decrease in the ability to think and remember that is great enough to affect a person s daily functioning other common symptoms include emotional problems problems with language and a decrease in motivation a person s consciousness is usually not affected a dementia diagnosis requires a change from a person s usual mental functioning and a greater decline than one would expect due to aging these diseases also have a significant effect on a person s caregivers
dementia also known as senility is a broad category of brain diseases that cause a long term and often gradual decrease in the ability to think and remember that is great enough to affect a person s daily functioning other common symptoms include emotional problems problems with language and a decrease in motivation a person s consciousness is usually not affected a dementia diagnosis requires a change from a person s usual mental functioning and a greater decline than one would expect due to aging these diseases also have a significant effect on a person s caregivers the most common type of dementia is alzheimer s disease which makes up 50 to 70 of cases other common types include vascular dementia 25 lewy body dementia 15 and frontotemporal dementia less common causes include normal pressure hydrocephalus parkinson s disease syphilis and creutzfeldt – jakob disease among others more than one type of dementia may exist in the same person a small proportion of cases run in families in the dsm 5 dementia was reclassified as a neurocognitive disorder with various degrees of severity diagnosis is usually based on history of the illness and cognitive testing with medical imaging and blood work used to rule out other possible causes the mini mental state examination is one commonly used cognitive test efforts to prevent dementia include trying to decrease risk factors such as high blood pressure smoking diabetes and obesity screening the general population for the disorder is not recommended there is no cure for dementia cholinesterase inhibitors such as donepezil are often used and may be beneficial in mild to moderate disorder overall benefit however may be minor for people with dementia and those who care for them many measures can improve their lives cognitive and behavioral interventions may be appropriate educating and providing emotional support to the caregiver is important exercise programs are beneficial with respect to activities of daily living and potentially improve outcomes treatment of behavioral problems with antipsychotics is common but not usually recommended due to the little benefit and side effects including an increased risk of death globally dementia affects 36 million people about 10 of people develop the disorder at some point in their lives it becomes more common with age about 3 of people between the ages of 65 – 74 have dementia 19 between 75 and 84 and nearly half of those over 85 years of age in 2013 dementia resulted in about 1 7 million deaths up from 0 8 million in 1990 as more people are living longer dementia is becoming more common in the population as a whole for people of a specific age however it may be becoming less frequent at least in the developed world due to a decrease in risk factors it is one of the most common causes of disability among the old it is believed to result in economic costs of 604 billion usd a year people with dementia are often physically or chemically restrained to a greater degree than necessary raising issues of human rights social stigma against those affected is common
amnesia
amnesia from greek meaning forgetfulness from ἀ a meaning without and μνήσις mnesis meaning memory also known as amnesic syndrome is a deficit in memory caused by brain damage disease or psychological trauma amnesia can also be caused temporarily by the use of various sedatives and hypnotic drugs the memory can be either wholly or partially lost due to the extent of damage that was caused there are two main types of amnesia retrograde amnesia and anterograde amnesia retrograde amnesia is the inability to retrieve information that was acquired before a particular date usually the date of an accident or operation in some cases the memory loss can extend back decades while in others the person may lose only a few months of memory anterograde amnesia is the in
delirium
delirium or acute confusional state is an organically caused decline from a previously attained baseline level of cognitive function it is typified by fluctuating course attentional deficits and generalized severe disorganization of behavior it typically involves other cognitive deficits changes in arousal hyperactive hypoactive or mixed perceptual deficits altered sleep wake cycle and psychotic features such as hallucinations and delusions
catatonia
catatonia is a state of neurogenic motor immobility and behavioral abnormality manifested by stupor it was first described in 1874 by karl ludwig kahlbaum in die katatonie oder das spannungsirresein catatonia or tension insanity
mild cognitive impairment
mild cognitive impairment mci also known as incipient dementia or isolated memory impairment is a brain function syndrome involving the onset and evolution of cognitive impairments beyond those expected based on the age and education of the individual but which are not significant enough to interfere with their daily activities it may occur as a transitional stage between normal aging and dementia although mci can present with a variety of symptoms when memory loss is the predominant symptom it is termed amnestic mci and is frequently seen as a prodromal stage of alzheimer s disease studies suggest that these individuals tend to progress to probable alzheimer ’ s disease at a rate of approximately 10 to 15 per year
organic brain syndrome
an organic brain syndrome obs also known as an organic brain disease disorder obd an organic mental syndrome oms or an organic mental disorder omd is a syndrome or disorder of mental function whose cause is alleged to be known as organic physiologic rather than purely of the mind these names are older and nearly obsolete general terms from psychiatry referring to many physical disorders that cause impaired mental function they are meant to exclude psychiatric disorders mental disorders originally the term was created to distinguish physical termed organic causes of mental impairment from psychiatric termed functional disorders but during the era when this distinction was drawn not enough was known about brain science including neuroscience cognitive science
frontal lobe disorder
klüver – bucy syndrome
klüver – bucy syndrome is a syndrome resulting from bilateral lesions of the medial temporal lobe including amygdaloid nucleus klüver – bucy syndrome may present with hyperphagia hypersexuality hyperorality visual agnosia and docility
dementia pugilistica
dementia pugilistica dp is a type of chronic traumatic encephalopathy cte a neurodegenerative disease with features of dementia dp may affect amateur or professional boxers wrestlers as well as athletes in other sports who suffer concussions dp is also called chronic boxer s encephalopathy traumatic boxer ’ s encephalopathy boxer s dementia chronic traumatic brain injury associated with boxing ctbi b and punch drunk syndrome dp was historically considered equivalent to cte but is now considered a subtype of cte
binge drinking
binge drinking or heavy episodic drinking is a modern epithet for drinking alcoholic beverages with an intention of becoming intoxicated by heavy consumption of alcohol over a short period of time it is a style of drinking that is popular in several countries worldwide and overlaps somewhat with social drinking since it is often done in groups the degree of intoxication however varies between and within various cultures that engage in this practice a binge on alcohol can occur over hours last up to several days or in the event of extended abuse even weeks due to the long term effects of alcohol misuse binge drinking is considered to be a major public health issue
alcohol intoxication
alcohol intoxication is a physiological state that may also include psychological alterations of consciousness induced by the ingestion of ethanol ethyl alcohol commonly known as drinking alcohol or just alcohol or methanol methyl or wood alcohol though with possibly serious side effects from the latter
alcohol intoxication is a physiological state that may also include psychological alterations of consciousness induced by the ingestion of ethanol ethyl alcohol commonly known as drinking alcohol or just alcohol or methanol methyl or wood alcohol though with possibly serious side effects from the latter alcohol intoxication is the result of alcohol entering the bloodstream faster than it can be metabolized by the liver which breaks down the ethanol into non intoxicating byproducts some effects of alcohol intoxication such as euphoria and lowered social inhibitions are central to alcohol s desirability as a beverage and its history as one of the world s most widespread recreational drugs despite this widespread use and alcohol s legality in most countries many medical sources tend to describe any level of alcohol intoxication as a form of poisoning due to ethanol s damaging effects on the body in large doses some religions such as some forms of islam or mormonism consider alcohol intoxication to be a sin symptoms of alcohol intoxication include euphoria flushed skin and decreased social inhibition at lower doses with larger doses producing progressively severe impairments of balance muscle coordination ataxia and decision making ability potentially leading to violent or erratic behavior as well as nausea or vomiting from alcohol s disruptive effect on the semicircular canals of the inner ear and chemical irritation of the gastric mucosa sufficiently high levels of blood borne alcohol will cause coma and death from the depressive effects of alcohol upon the central nervous system
substance intoxication
alcoholism
alcoholic redirects here for alcoholic beverages see alcoholic beverage for the song by starsailor see alcoholic song alcoholism also known as alcohol use disorder aud is a broad term for any drinking of alcohol that results in problems it was previously divided into two types alcohol abuse and alcohol dependence in a medical context alcoholism is said to exist when two or more of the following conditions is present a person drinks large amounts over a long time period has difficulty cutting down acquiring and drinking alcohol takes up a great deal of time alcohol is strongly desired usage results in not fulfilling responsibilities usage results in social problems usage results in health problems usage results in risky situations withdrawal occurs when stopping
substance dependence
substance dependence also known as drug dependence is an adaptive state that develops from repeated drug administration and which results in withdrawal upon cessation of drug use a drug addiction a distinct concept from substance dependence is defined as compulsive out of control drug use despite negative consequences an addictive drug is a drug which is both rewarding and reinforcing δfosb a gene transcription factor is now known to be a critical component and common factor in the development of virtually all forms of behavioral addiction and drug addictions but not dependence
substance dependence also known as drug dependence is an adaptive state that develops from repeated drug administration and which results in withdrawal upon cessation of drug use a drug addiction a distinct concept from substance dependence is defined as compulsive out of control drug use despite negative consequences an addictive drug is a drug which is both rewarding and reinforcing δfosb a gene transcription factor is now known to be a critical component and common factor in the development of virtually all forms of behavioral addiction and drug addictions but not dependence within the framework of the 4 th edition of the diagnostic and statistical manual of mental disorders dsm iv substance dependence is redefined as a drug addiction and can be diagnosed without the occurrence of a withdrawal syndrome it is now described accordingly when an individual persists in use of alcohol or other drugs despite problems related to use of the substance substance dependence may be diagnosed compulsive and repetitive use may result in tolerance to the effect of the drug and withdrawal symptoms when use is reduced or stopped this along with substance abuse are considered substance use disorders
drug withdrawal
drug withdrawal is the group of symptoms that occur upon the abrupt discontinuation or decrease in intake of medications or recreational drugs in order to experience the symptoms of withdrawal one must have first developed a physical or mental dependence this happens after consuming one or more substances for a certain period of time which is both dose dependent and varies based upon the drug consumed for example prolonged use of an anti depressant is most likely to cause a much different reaction when discontinued than the repeated use of an opioid such as heroin withdrawal symptoms from opiate abuse such as heroin morphine include anxiety sweating vomiting and diarrhea alcohol abuse withdrawal symptoms include irritability fatigue shaking sweating and nausea withdrawal
drug withdrawal is the group of symptoms that occur upon the abrupt discontinuation or decrease in intake of medications or recreational drugs in order to experience the symptoms of withdrawal one must have first developed a physical or mental dependence this happens after consuming one or more substances for a certain period of time which is both dose dependent and varies based upon the drug consumed for example prolonged use of an anti depressant is most likely to cause a much different reaction when discontinued than the repeated use of an opioid such as heroin withdrawal symptoms from opiate abuse such as heroin morphine include anxiety sweating vomiting and diarrhea alcohol abuse withdrawal symptoms include irritability fatigue shaking sweating and nausea withdrawal from nicotine brings on irritability fatigue insomnia headache and difficulty concentrating symptoms and body response to the absence can vary from mild discomfort or to the return of previous underlying medical problems and their respective symptoms many legal and unrestricted chemicals and or substances available without prescriptions and over the counter can cause withdrawal effects when users stop consuming them even if taken as directed the route of administration whether intravenous intramuscular oral or otherwise can also play a role in determining the severity of withdrawal symptoms there are different stages of withdrawal as well generally a person will start to feel bad crash or come down progress to feeling worse hit a plateau and then the symptoms begin to dissipate however withdrawal from certain drugs benzodiazepines alcohol glucocorticoids can be fatal while it is seldom fatal to the user withdrawal from opiates and some other drugs can cause miscarriage due to fetal withdrawal the term cold turkey is used to describe the sudden cessation use of a substance and the ensuing physiologic manifestations the symptoms from withdrawal may be even more dramatic when the drug has masked prolonged malnutrition disease chronic pain infections common in intravenous drug use or sleep deprivation conditions that drug abusers often suffer as a secondary consequence of the drug many drugs including alcohol suppress appetite while simultaneously consuming any money that might have been spent on food when the drug is removed the discomforts return in force and are sometimes confused with addiction withdrawal symptoms
delirium tremens
delirium tremens dts is a rapid onset of confusion usually caused by withdrawal from alcohol when it occurs it is often three days into the withdrawal symptoms and lasts for two to three days people may also see or hear things other people do not physical effects may include shaking shivering irregular heart rate and sweating occasionally a very high body temperature or seizures may result in death alcohol is one of the most dangerous drugs to experience withdrawal from
delirium tremens dts is a rapid onset of confusion usually caused by withdrawal from alcohol when it occurs it is often three days into the withdrawal symptoms and lasts for two to three days people may also see or hear things other people do not physical effects may include shaking shivering irregular heart rate and sweating occasionally a very high body temperature or seizures may result in death alcohol is one of the most dangerous drugs to experience withdrawal from delirium tremens typically only occurs in people with a high intake of alcohol for more than a month a similar syndrome may occur with benzodiazepine and barbiturate withdrawal withdrawal from stimulants such as cocaine does not have major medical complications in a person with delirium tremens it is important to rule out other associated problems such as electrolyte abnormalities pancreatitis and alcoholic hepatitis prevention is by treating withdrawal symptoms if delirium tremens occurs aggressive treatment improves outcomes treatment in a quiet intensive care unit with sufficient light is often recommended benzodiazepines are the medication of choice with diazepam lorazepam chlordiazepoxide and oxazepam all commonly used they should be given until a person is lightly sleeping the antipsychotic haloperidol may also be used the vitamin thiamine is recommended mortality without treatment is between 15 and 40 currently death occurs in about 1 to 4 of cases about half of people with alcoholism will develop withdrawal symptoms upon reducing their use of these three to five percent develop dts or have seizures the name delirium tremens was first used in 1813 however the symptoms were well described since the 1700 s the word delirium is latin for going off the furrow a plowing metaphor it is also called shaking frenzy and saunders sutton syndrome include barrel fever blue horrors bottleache bats drunken horrors elephants gallon distemper quart mania pink spiders among others
alcoholic hallucinosis
alcoholic hallucinosis or alcohol related psychosis or alcohol induced psychotic disorder is a complication of alcohol withdrawal in alcoholics descriptions of the condition date back to at least 1907 they can occur during acute intoxication or withdrawal with the potential of having delirium tremens alcohol hallucinosis is a rather uncommon alcohol induced psychotic disorder only being seen in chronic alcoholics who have many consecutive years of severe and heavy drinking during their lifetime alcoholic hallucinosis develops about 12 to 24 hours after the heavy drinking stops suddenly and can last for days it involves auditory and visual hallucinations most commonly accusatory or threatening voices the risk of developing alcoholic hallucinosis is increased by long term heavy alc
substance induced psychosis
substance induced psychosis commonly known as toxic psychosis is a form of substance use disorder where psychosis can be attributed to substance use it is a psychosis that results from the poisonous effects of chemicals or drugs including those produced by the body itself various psychoactive substances have been implicated in causing or worsening psychosis in users
korsakoff s syndrome
korsakoff s syndrome is a manifestation of wernicke s encephalopathy also called wernicke s disease it happens in wernicke s disease in almost all alcohol abusers it is rare among the other patients but for example some cases have been observed after bariatric surgeries when deficiency was not prevented by use of nutritional supplements this neurological disorder is caused by a lack of thiamine vitamin b 1 in the brain and is also often exacerbated by the neurotoxic effects of alcohol when wernicke s encephalopathy accompanies korsakoff s syndrome the combination is called the wernicke – korsakoff syndrome korsakoff s is a continuum of wernicke s encephalopathy or disease though a recognized episode of wernicke s is not always obvious the syndrome is named after sergei korsako
korsakoff s syndrome is a manifestation of wernicke s encephalopathy also called wernicke s disease it happens in wernicke s disease in almost all alcohol abusers it is rare among the other patients but for example some cases have been observed after bariatric surgeries when deficiency was not prevented by use of nutritional supplements this neurological disorder is caused by a lack of thiamine vitamin b 1 in the brain and is also often exacerbated by the neurotoxic effects of alcohol when wernicke s encephalopathy accompanies korsakoff s syndrome the combination is called the wernicke – korsakoff syndrome korsakoff s is a continuum of wernicke s encephalopathy or disease though a recognized episode of wernicke s is not always obvious the syndrome is named after sergei korsakoff a russian neuropsychiatrist who discovered the syndrome during the late 19 th century
opioid use disorder
an opioid use disorder is a medical condition that is characterized by the compulsive use of opioids despite adverse consequences from continued use and the development of a withdrawal syndrome when opioid use stops it involves both an addiction to and dependence upon opioids opioid use disorders resulted in 51 000 deaths worldwide in 2013 up from 18 000 deaths in 1990
benzodiazepine dependence
benzodiazepine dependence or benzodiazepine addiction is when one has developed one or more of either tolerance withdrawal symptoms drug seeking behaviors such as continued use despite harmful effects and maladaptive pattern of substance use according to the dsm iv in the case of benzodiazepine dependence however the continued use seems to be associated with the avoidance of unpleasant withdrawal reaction rather than from the pleasurable effects of the drug benzodiazepine dependence develops with long term use even at low therapeutic doses without the described dependence behavior
benzodiazepine dependence or benzodiazepine addiction is when one has developed one or more of either tolerance withdrawal symptoms drug seeking behaviors such as continued use despite harmful effects and maladaptive pattern of substance use according to the dsm iv in the case of benzodiazepine dependence however the continued use seems to be associated with the avoidance of unpleasant withdrawal reaction rather than from the pleasurable effects of the drug benzodiazepine dependence develops with long term use even at low therapeutic doses without the described dependence behavior addiction or what is sometimes referred to as psychological dependence includes people misusing or craving the drug not to relieve withdrawal symptoms but to experience its euphoric or intoxicating effects it is important to distinguish between addiction and drug abuse of benzodiazepines and normal physical dependence on benzodiazepines the increased gabaa inhibition caused by benzodiazepines is counteracted by the body s development of tolerance to the drug s effects the development of tolerance occurs as a result of neuroadaptations which result in decreased gaba inhibition and increased excitability of the glutamate system these adaptations occur as a result of the body trying to overcome the central nervous system depressant effects of the drug to restore homeostasis when benzodiazepines are stopped these neuroadaptations are unmasked leading to hyper excitability of the nervous system and the appearance of withdrawal symptoms therapeutic dose dependence is the largest category of people dependent on benzodiazepines these individuals typically do not escalate their doses to high levels or abuse their medication smaller groups include patients escalating their dosage to higher levels and drug misusers as well it is unclear exactly how many people illicitly abuse benzodiazepines tolerance develops within days or weeks to the anticonvulsant hypnotic muscle relaxant and after 4 months there is little evidence that benzodiazepines retain their anxiolytic properties some authors however disagree and feel that benzodiazepines retain their anxiolytic properties long term benzodiazepine treatment may remain necessary in certain clinical conditions dependence and misuse of benzodiazepines have been of concern since 2002 based on findings in the us from the treatment episode data set teds an annual compilation of patient characteristics in substance abuse treatment facilities in the united states admissions due to primary tranquilizer including but not limited to benzodiazepine type drug use increased 79 from 1992 to 2002 thus the dawn and teds data sets demonstrate clearly that the misuse of these sedative hypnotics is on the rise and cause for concern numbers of benzodiazepine prescriptions have been declining due primarily to concerns of dependence in the short term benzodiazepines can be effective drugs for acute anxiety or insomnia with longer term use other therapies both pharmacological and psychotherapeutic become more effective this is in part due to the greater effectiveness over time of other forms of therapy and also due to the eventual development of pharmacological benzodiazepine tolerance
bromism
bromism is the syndrome which results from the long term consumption of bromine usually through bromide based sedatives such as potassium bromide and lithium bromide bromism was once a very common disorder being responsible for 5 to 10 of psychiatric hospital admissions bromism is now an uncommon disorder because bromide was withdrawn from clinical use in many countries and was severely restricted in others high levels of bromide chronically impair the membrane of neurons which progressively impairs neuronal transmission leading to toxicity known as bromism bromide has an elimination half life of 9 to 12 days which can lead to excessive accumulation doses of 0 5 to 1 gram per day of bromide can lead to bromism historically the therapeutic dose of bromide is about 3 to 5 grams
emergence delirium
emergence delirium sometimes referred to as agitated emergence emergence agitation emergence excitement or postanesthetic excitement is a condition in which emergence from general anesthesia is accompanied by psychomotor agitation some see a relation to pavor nocturnus while other see a relation to the excitement stage of anesthesia
caffeine dependence
caffeine s mechanism of action is somewhat different from that of cocaine and the substituted amphetamines caffeine blocks adenosine receptors a and a 2 a adenosine is a by product of cellular activity and stimulation of adenosine receptors produces feelings of tiredness and the need to sleep caffeine s ability to block these receptors means the levels of the body s natural stimulants dopamine and norepinephrine continue at higher levels
hallucinogen persisting perception disorder
inhalant
inhalants are a broad range of intoxicative drugs whose gases or volatile vapors are breathed in via the nose or mouth they are taken by room temperature volatilization or from a pressurized container e g nitrous oxide and do not include drugs that are sniffed after burning or heating for example amyl nitrite and toluene – the solvent used in contact cement and model airplane glue – are considered inhalants but tobacco cannabis and crack are not even though the latter are also inhaled as smoke
inhalants are a broad range of intoxicative drugs whose gases or volatile vapors are breathed in via the nose or mouth they are taken by room temperature volatilization or from a pressurized container e g nitrous oxide and do not include drugs that are sniffed after burning or heating for example amyl nitrite and toluene – the solvent used in contact cement and model airplane glue – are considered inhalants but tobacco cannabis and crack are not even though the latter are also inhaled as smoke while some inhalant drugs are prescribed by medical professionals and used for medical purposes as in the case of nitrous oxide a dental anxiolytic and pain relief agent this article focuses on inhalant use of household and industrial chemicals in a manner not intended by the manufacturer to produce intoxication or other psychoactive effects these products are used as recreational drugs for their intoxicating effect according to a 1995 report by the national institute on drug abuse the most serious inhalant abuse occurs among homeless children and teens who live on the streets completely without family ties inhalant users inhale vapor or aerosol propellant gases using plastic bags held over the mouth or by breathing from a solvent soaked rag or an open container the practices are known colloquially as sniffing huffing or bagging the effects of inhalants range from an alcohol like intoxication and intense euphoria to vivid hallucinations depending on the substance and the dose some inhalant users are injured due to the harmful effects of the solvents or gases or due to other chemicals used in the products that they are inhaling as with any recreational drug users can be injured due to dangerous behavior while they are intoxicated such as driving under the influence in some cases users have died from hypoxia lack of oxygen pneumonia cardiac failure or arrest or aspiration of vomit brain damage is typically seen with chronic long term use as opposed to short term exposure even though many inhalants are legal there have been legal actions taken in some jurisdictions to limit access by minors while solvent glue is normally a legal product a scottish court has ruled that supplying glue to children is illegal if the store knows the children intend to abuse the glue in the us thirty eight of 50 states have enacted laws making various inhalants unavailable to those under the age of 18 or making inhalant use illegal
poly drug use
poly drug use refers to the use of two or more psychoactive drugs in combination to achieve a particular effect in many cases one drug is used as a base or primary drug with additional drugs to leaven or compensate for the side effects of the primary drug and make the experience more enjoyable with drug synergy effects or to supplement for primary drug when supply is low
schizophrenia
schizophrenia is a mental disorder characterized by abnormal social behavior and failure to understand what is real common symptoms include false beliefs unclear or confused thinking hearing voices reduced social engagement and emotional expression and a lack of motivation people with schizophrenia often have additional mental health problems such as anxiety disorders major depressive illness or substance use disorder symptoms typically come on gradually begin in young adulthood and last a long time
schizophrenia is a mental disorder characterized by abnormal social behavior and failure to understand what is real common symptoms include false beliefs unclear or confused thinking hearing voices reduced social engagement and emotional expression and a lack of motivation people with schizophrenia often have additional mental health problems such as anxiety disorders major depressive illness or substance use disorder symptoms typically come on gradually begin in young adulthood and last a long time the causes of schizophrenia include environmental and genetic factors possible environmental factors include being raised in a city cannabis use certain infections parental age and poor nutrition during pregnancy genetic factors include a variety of common and rare genetic variants diagnosis is based on observed behavior and the person s reported experiences during diagnosis a person s culture must also be taken into account as of 2013 there is no objective test schizophrenia does not imply a split personality or multiple personality disorder — conditions it is often confused with in public perception the mainstay of treatment is antipsychotic medication along with counselling job training and social rehabilitation it is unclear if typical or atypical antipsychotics are better in those who do not improve with other antipsychotics clozapine may be used in more serious cases — where there is risk to self or others — involuntary hospitalization may be necessary although hospital stays are now shorter and less frequent than they once were about 0 3 – 0 7 of people are affected by schizophrenia during their lifetime in 2013 there was estimated to be 23 6 million cases globally males are more often affected than females about 20 of people do well and a few recover completely social problems such as long term unemployment poverty and homelessness are common the average life expectancy of people with the disorder is ten to twenty five years less than the average this is the result of increased physical health problems and a higher suicide rate about 5 in 2013 an estimated 16 000 people died from behavior related to or caused by schizophrenia
psychosis
psychosis refers to an abnormal condition of the mind described as involving a loss of contact with reality people with psychosis are described as psychotic people experiencing psychosis may exhibit some personality changes and thought disorder depending on its severity this may be accompanied by unusual or bizarre behavior as well as difficulty with social interaction and impairment in carrying out daily life activities
psychosis refers to an abnormal condition of the mind described as involving a loss of contact with reality people with psychosis are described as psychotic people experiencing psychosis may exhibit some personality changes and thought disorder depending on its severity this may be accompanied by unusual or bizarre behavior as well as difficulty with social interaction and impairment in carrying out daily life activities psychosis as a sign of a psychiatric disorder is a diagnosis of exclusion that is a new onset episode of psychosis is not considered a symptom of a psychiatric disorder until other relevant and known causes of psychosis are properly excluded medical and biological laboratory tests should exclude central nervous system diseases and injuries diseases and injuries of other organs psychoactive substances and toxins as causes of symptoms of psychosis before any psychiatric illness can be diagnosed in medical training psychosis as a sign of illness is often compared to fever since both can have multiple causes that are not readily apparent the term psychosis is very broad and can mean anything from relatively normal aberrant experiences through to the complex and catatonic expressions of schizophrenia and bipolar type 1 disorder in properly diagnosed psychiatric disorders where other causes have been excluded by extensive medical and biological laboratory tests psychosis is a descriptive term for the hallucinations delusions and impaired insight that may occur psychosis is generally the term given to noticeable deficits in normal behavior negative signs and more commonly to diverse types of hallucinations or delusional beliefs particularly with regard to the relation between self and others as in grandiosity and pronoia or paranoia the first line treatment for many psychotic disorders is antipsychotic medication meta analyses of these drugs show either no difference in effects or a moderate effect size suggesting that the mechanism of psychosis is more complex than an overactive dopamine system
paranoia
disorganized schizophrenia
disorganized schizophrenia also known as hebephrenia is a subtype of schizophrenia although it is not recognized in the latest version of the diagnostic and statistical manual of mental disorders disorganized schizophrenia is thought to be an extreme expression of the disorganization syndrome that has been hypothesized to be one aspect of a three factor model of symptoms in schizophrenia the other factors being reality distortion involving delusions and hallucinations and psychomotor poverty lack of speech lack of spontaneous movement and various aspects of blunting of emotion
catalepsy
schizotypal personality disorder
schizotypal personality disorder stpd or schizotypal disorder is a mental disorder characterized by severe social anxiety paranoia and often unconventional beliefs people with this disorder feel extreme discomfort with maintaining close relationships with people mainly because they think that their peers harbor negative thoughts towards them so they avoid forming them peculiar speech mannerisms and odd modes of dress are also symptoms of this disorder in some cases people with stpd may react oddly in conversations not respond or talk to themselves
schizotypal personality disorder stpd or schizotypal disorder is a mental disorder characterized by severe social anxiety paranoia and often unconventional beliefs people with this disorder feel extreme discomfort with maintaining close relationships with people mainly because they think that their peers harbor negative thoughts towards them so they avoid forming them peculiar speech mannerisms and odd modes of dress are also symptoms of this disorder in some cases people with stpd may react oddly in conversations not respond or talk to themselves they frequently interpret situations as being strange or having unusual meaning for them paranormal and superstitious beliefs are common such people frequently seek medical attention for anxiety or depression instead of their personality disorder schizotypal personality disorder occurs in approximately 3 of the general population and is slightly more common in males
delusional parasitosis
delusional parasitosis also known as delusional infestation or ekbom s syndrome is a delusional disorder in which individuals incorrectly believe they are infested with parasites insects or bugs whereas in reality no such infestation is present individuals with delusional parasitosis usually report tactile hallucinations known as formication a sensation resembling insects crawling on or under the skin
cotard delusion
cotard delusion is a rare mental illness in which the affected person holds the delusional belief that he or she is already dead does not exist is putrefying or has lost his or her blood or internal organs statistical analysis of a hundred patient cohort indicates that the denial of self existence is a symptom present in 69 of the cases of cotard s syndrome yet paradoxically 55 of the patients present delusions of immortality
brief reactive psychosis
folie à deux
folie à deux fɒˈli ə ˈduː french pronunciation ​ fɔli a dø french for madness of two or shared psychosis is a psychiatric syndrome in which symptoms of a delusional belief and hallucinations are transmitted from one individual to another the same syndrome shared by more than two people may be called folie à trois folie à quatre folie en famille or even folie à plusieurs madness of many recent psychiatric classifications refer to the syndrome as shared psychotic disorder dsm iv 297 3 and induced delusional disorder f 24 in the icd 10 although the research literature largely uses the original name this disorder is not in the current dsm dsm v the disorder was first conceptualized in 19 th century french psychiatry by charles lasègue and jean pierre falret and so
folie à deux fɒˈli ə ˈduː french pronunciation ​ fɔli a dø french for madness of two or shared psychosis is a psychiatric syndrome in which symptoms of a delusional belief and hallucinations are transmitted from one individual to another the same syndrome shared by more than two people may be called folie à trois folie à quatre folie en famille or even folie à plusieurs madness of many recent psychiatric classifications refer to the syndrome as shared psychotic disorder dsm iv 297 3 and induced delusional disorder f 24 in the icd 10 although the research literature largely uses the original name this disorder is not in the current dsm dsm v the disorder was first conceptualized in 19 th century french psychiatry by charles lasègue and jean pierre falret and so also known as lasègue falret syndrome
schizoaffective disorder
schizoaffective disorder sza szd or sad is a mental disorder characterized by abnormal thought processes and deregulated emotions the diagnosis is made when the patient has features of both schizophrenia and a mood disorder — either bipolar disorder or depression — but does not strictly meet diagnostic criteria for either alone the bipolar type is distinguished by symptoms of mania hypomania or mixed episode the depressive type by symptoms of depression only common symptoms of the disorder include hallucinations paranoid delusions and disorganized speech and thinking the onset of symptoms usually begins in young adulthood currently with an uncertain lifetime prevalence because the disorder was redefined but dsm iv prevalence estimates were less than 1 percent of the population i
schizoaffective disorder sza szd or sad is a mental disorder characterized by abnormal thought processes and deregulated emotions the diagnosis is made when the patient has features of both schizophrenia and a mood disorder — either bipolar disorder or depression — but does not strictly meet diagnostic criteria for either alone the bipolar type is distinguished by symptoms of mania hypomania or mixed episode the depressive type by symptoms of depression only common symptoms of the disorder include hallucinations paranoid delusions and disorganized speech and thinking the onset of symptoms usually begins in young adulthood currently with an uncertain lifetime prevalence because the disorder was redefined but dsm iv prevalence estimates were less than 1 percent of the population in the range of 0 5 to 0 8 percent diagnosis is based on observed behavior and the patient s reported experiences genetics neurobiology early and current environment behavioral social and experiential components appear to be important contributory factors some recreational and prescription drugs may cause or worsen symptoms no single isolated organic cause has been found but extensive evidence exists for abnormalities in the metabolism of tetrahydrobiopterin bh 4 dopamine and glutamic acid in people with schizophrenia psychotic mood disorders and schizoaffective disorder people with schizoaffective disorder are likely to have co occurring conditions including anxiety disorders and substance use disorder social problems such as long term unemployment poverty and homelessness are common the average life expectancy of people with the disorder is shorter than those without it due to increased physical health problems from an absence of health promoting behaviors including a sedentary lifestyle and a higher suicide rate the mainstay of current treatment is antipsychotic medication combined with mood stabilizer medication or antidepressant medication or both there is growing concern by some researchers that antidepressants may increase psychosis mania and long term mood episode cycling in the disorder when there is risk to self or others usually early in treatment brief hospitalization may be necessary psychiatric rehabilitation psychotherapy and vocational rehabilitation are very important for recovery of higher psychosocial function as a group people with schizoaffective disorder diagnosed using dsm iv and icd 10 criteria have a better outcome than people with schizophrenia but have variable individual psychosocial functional outcomes compared to people with mood disorders from worse to the same outcomes for people with dsm 5 diagnosed schizoaffective disorder depend on data from prospective cohort studies which haven t been completed yet in dsm 5 and icd 10 schizoaffective disorder is in the same diagnostic class as schizophrenia but not in the same class as mood disorders the diagnosis was introduced in 1933 and its definition was slightly changed in the dsm 5 published in may 2013 because the dsm iv schizoaffective disorder definition leads to excessive misdiagnosis the changes made to the schizoaffective disorder definition were intended to make the dsm 5 diagnosis more consistent or reliable and to substantially reduce the use of the diagnosis additionally the dsm 5 schizoaffective disorder diagnosis can no longer be used for first episode psychosis
mood disorder
mood disorder is a group of diagnoses in the diagnostic and statistical manual of mental disorders dsm classification system where a disturbance in the person s mood is hypothesized to be the main underlying feature the classification is known as mood affective disorders in international classification of diseases icd
mood disorder is a group of diagnoses in the diagnostic and statistical manual of mental disorders dsm classification system where a disturbance in the person s mood is hypothesized to be the main underlying feature the classification is known as mood affective disorders in international classification of diseases icd english psychiatrist henry maudsley proposed an overarching category of affective disorder the term was then replaced by mood disorder as the latter term refers to the underlying or longitudinal emotional state whereas the former refers to the external expression observed by others mood disorders fall into the basic groups of elevated mood such as mania or hypomania depressed mood of which the best known and most researched is major depressive disorder mdd commonly called clinical depression unipolar depression or major depression and moods which cycle between mania and depression known as bipolar disorder bd formerly known as manic depression there are several sub types of depressive disorders or psychiatric syndromes featuring less severe symptoms such as dysthymic disorder similar to but milder than mdd and cyclothymic disorder similar to but milder than bd mood disorders may also be substance induced or occur in response to a medical condition
hypomania
hypomania literally under mania or less than mania is a mood state characterized by persistent disinhibition and pervasive elevated euphoric with or without irritable mood but generally less severe than full mania characteristic behaviors are extremely energetic talkative and confident commonly exhibited with a flight of creative ideas while hypomanic behavior often generates productivity and excitement it can become troublesome if the subject engages in risky or otherwise inadvisable behaviors when manic episodes are staged according to symptomatic severity and associated features hypomania constitutes the first stage or stage i of the syndrome wherein the cardinal features euphoria or heightened irritability pressure of speech and activity increased energy and decre
bipolar disorder
bipolar disorder formerly manic depression is a mental disorder with periods of depression and periods of elevated mood the elevated mood is significant and is known as mania or hypomania depending on its severity or whether symptoms of psychosis are present during mania an individual behaves or feels abnormally energetic happy or irritable individuals often make poorly thought out decisions with little regard to the consequences the need for sleep is usually reduced during manic phases during periods of depression there may be crying a negative outlook on life and poor eye contact with others the risk of suicide among those with the illness is high at greater than 6 percent over 20 years while self harm occurs in 30 – 40 percent other mental health issues such as anxiety diso
major depressive disorder
major depressive disorder mdd also known as simply depression is a mental disorder characterized by at least two weeks of low mood that is present across most situations it is often accompanied by low self esteem loss of interest in normally enjoyable activities low energy and pain without a clear cause people may also occasionally have false beliefs or see or hear things that others cannot some people have periods of depression separated by years in which they are normal while others nearly always have symptoms present major depressive disorder can negatively affects a person s family work or school life sleeping or eating habits and general health between 2 7 of adults with major depression die by suicide and up to 60 of people who die by suicide had depression or anoth
major depressive disorder mdd also known as simply depression is a mental disorder characterized by at least two weeks of low mood that is present across most situations it is often accompanied by low self esteem loss of interest in normally enjoyable activities low energy and pain without a clear cause people may also occasionally have false beliefs or see or hear things that others cannot some people have periods of depression separated by years in which they are normal while others nearly always have symptoms present major depressive disorder can negatively affects a person s family work or school life sleeping or eating habits and general health between 2 7 of adults with major depression die by suicide and up to 60 of people who die by suicide had depression or another mood disorder the cause is believed to be a combination of genetic environmental and psychological factors risk factors include a family history of the condition major life changes certain medications chronic health problems and substance abuse about 40 of the risk appears to be related to genetics the diagnosis of major depressive disorder is based on the person s reported experiences and a mental status examination there is no laboratory test for major depression testing however may be done to rule out physical conditions that can cause similar symptoms major depression should be differentiated from sadness which is a normal part of life and is less severe the united states preventive services task force uspstf recommends screening for depression among those over the age 12 while a prior cochrane review found insufficient evidence for screening typically people are treated with counselling and antidepressant medication medication appears to be effective but the effect may only be significant in the most severely depressed it is unclear whether medications affect the risk of suicide types of counselling used include cognitive behavioral therapy cbt and interpersonal therapy if other measures are not effective electroconvulsive therapy ect may be tried hospitalization may be necessary in cases with a risk of harm to self and may occasionally occur against a person s wishes major depressive disorder affected approximately 253 million 3 6 of people in 2013 the percentage of people who are affected at one point in their life varies from 7 in japan to 21 in france lifetime rates are higher in the developed world 15 compared to the developing world 11 it causes the second most years lived with disability after low back pain the most common time of onset is in a person in their 20 s and 30 s females are affected about twice as often as males the american psychiatric association added major depressive disorder to the diagnostic and statistical manual of mental disorders dsm iii in 1980 it was a split of the previous depressive neurosis in the dsm ii which also encompassed the conditions now known as dysthymia and adjustment disorder with depressed mood those currently or previously affected may be stigmatized
seasonal affective disorder
seasonal affective disorder sad also known as winter depression winter blues summer depression or seasonal depression is a mood disorder subset in which people who have normal mental health throughout most of the year experience depressive symptoms at the same time each year most commonly in the winter sad was formally described and named in 1984 by norman e rosenthal and colleagues at the national institute of mental health there are many treatments for classic winter based seasonal affective disorder
seasonal affective disorder sad also known as winter depression winter blues summer depression or seasonal depression is a mood disorder subset in which people who have normal mental health throughout most of the year experience depressive symptoms at the same time each year most commonly in the winter in the diagnostic and statistical manual of mental disorders dsm iv and dsm 5 its status was changed it is no longer classified as a unique mood disorder but is now a specifier called with seasonal pattern for recurrent major depressive disorder that occurs at a specific time of the year and fully remits otherwise although experts were initially skeptical this condition is now recognized as a common disorder sad s prevalence in the u s ranges from 1 4 in florida to 9 9 in alaska the u s national library of medicine notes that some people experience a serious mood change when the seasons change they may sleep too much have little energy and may also feel depressed though symptoms can be severe they usually clear up the condition in the summer can include heightened anxiety sad was formally described and named in 1984 by norman e rosenthal and colleagues at the national institute of mental health there are many treatments for classic winter based seasonal affective disorder
cyclothymia
cyclothymia ˌsaɪkloʊˈθaɪmiə also called cyclothymic disorder is a type of chronic mood disorder widely considered to be a more chronic but milder or subthreshold form of bipolar disorder cyclothymia is characterized by numerous mood swings with periods of hypomanic symptoms that do not meet criteria for a hypomanic episode alternating with periods of mild or moderate symptoms of depression that do not meet criteria for a major depressive episode
cyclothymia ˌsaɪkloʊˈθaɪmiə also called cyclothymic disorder is a type of chronic mood disorder widely considered to be a more chronic but milder or subthreshold form of bipolar disorder cyclothymia is characterized by numerous mood swings with periods of hypomanic symptoms that do not meet criteria for a hypomanic episode alternating with periods of mild or moderate symptoms of depression that do not meet criteria for a major depressive episode an individual with cyclothymia may feel stable at a baseline level but experience a noticeable shift to an emotional high during subthreshold hypomanic episodes of elation or euphoria with symptoms similar to those of mania but less severe and often cycle to emotional lows with moderate depressive symptoms to meet the diagnostic criteria for cyclothymia a person must experience this alternating pattern of emotional highs and lows for a period of at least two years with no more than two consecutive symptom free months for children and adolescents the duration must be at least one year while diagnosis of cyclothymia is becoming more common it is not as frequent as that of bipolar disorder diagnosis of cyclothymia entails the absence of any major depressive episode manic episode or mixed episode which would qualify the individual for diagnosis of other mood disorders when a major episode manifests after an initial diagnosis of cyclothymia the individual may qualify for a diagnosis of bipolar i or bipolar ii disorder although estimates vary greatly 15 – 50 of cases of cyclothymia later advance to the diagnostic criteria for bipolar i and or bipolar ii disorder with cyclothymic features although the emotional highs and lows of cyclothymia are less extreme than those of bipolar disorder the symptomatology longitudinal course family history and treatment response of cyclothymia are consistent with bipolar spectrum lifetime prevalence of cyclothymic disorder is 0 4 – 1 frequency appears similar in men and women though women more often seek treatment people with cyclothymia during periodic hypomania euphoria tend to feel an inflated self worth self confidence and elation often with rapid speech racing thoughts not much need to sleep increased aggression and impulsive behavior showing little regard for consequences of decisions — but may sometimes be somewhat fully or hyper productive for a period of several days at a time
dysthymia
dysthymia dɪsˈθaɪmiə dis thy mee ə from ancient greek δυσθυμία bad state of mind sometimes also called neurotic depression dysthymic disorder or chronic depression is a mood disorder consisting of the same cognitive and physical problems as in depression with less severe but longer lasting symptoms the concept was coined by robert spitzer as a replacement for the term depressive personality in the late 1970 s
dysthymia dɪsˈθaɪmiə dis thy mee ə from ancient greek δυσθυμία bad state of mind sometimes also called neurotic depression dysthymic disorder or chronic depression is a mood disorder consisting of the same cognitive and physical problems as in depression with less severe but longer lasting symptoms the concept was coined by robert spitzer as a replacement for the term depressive personality in the late 1970 s according to the fourth edition of the diagnostic and statistical manual of mental disorders published in 1994 dsm iv dysthymia is a serious state of chronic depression which persists for at least two years one year for children and adolescents dysthymia is less acute and severe than major depressive disorder as dysthymia is a chronic disorder sufferers may experience symptoms for many years before it is diagnosed if diagnosis occurs at all as a result they may believe that depression is a part of their character so they may not even discuss their symptoms with doctors family members or friends dysthymia often co occurs with other mental disorders a double depression is the occurrence of episodes of major depression in addition to dysthymia switching between periods of dysthymic moods and periods of hypomanic moods is indicative of cyclothymia which is a mild variant of bipolar disorder in the dsm 5 dysthymia is replaced by persistent depressive disorder pdd this new condition includes both chronic major depressive disorder and the previous dysthymic disorder the reason for this change is that there was no evidence for meaningful differences between these two conditions
masked depression
anxiety disorder
anxiety disorders are a group of mental disorders characterized by feelings of anxiety and fear anxiety is a worry about future events and fear is a reaction to current events these feelings may cause physical symptoms such as a fast heart rate and shakiness there are a number of anxiety disorders including generalized anxiety disorder specific phobia social anxiety disorder separation anxiety disorder agoraphobia and panic disorder the disorder differs by what results in the symptoms people often have more than one anxiety disorder
agoraphobia
agoraphobia is an anxiety disorder characterized by symptoms of anxiety in situations where the person perceives the environment to be unsafe with no easy way to get away these situations can include open spaces public transit shopping malls or simply being outside the home being in these situations may result in a panic attack the symptoms occur nearly every time the situation is encountered and lasts for more than six months those affected will go to great lengths to avoid these situations in severe cases people may become unable to leave their homes
agoraphobia is an anxiety disorder characterized by symptoms of anxiety in situations where the person perceives the environment to be unsafe with no easy way to get away these situations can include open spaces public transit shopping malls or simply being outside the home being in these situations may result in a panic attack the symptoms occur nearly every time the situation is encountered and lasts for more than six months those affected will go to great lengths to avoid these situations in severe cases people may become unable to leave their homes the cause of agoraphobia is a combination of genetic and environmental factors the condition often runs in families and stressful events such as the death of a parent or being attacked may be a trigger in the dsm 5 agoraphobia is classified as a phobia along with specific phobias and social phobia other conditions that can produce similar symptoms include separation anxiety posttraumatic stress disorder and major depressive disorder those affected are at higher risk of depression and substance use disorder without treatment it is uncommon for agoraphobia to resolve treatment is typically with a type of counselling called cognitive behavioral therapy cbt cbt results in resolution for about half of people agoraphobia affects about 1 7 of adults women are affected about twice as often as men the condition often begins in early adulthood and becomes less common in old age it is rare in children the term agoraphobia is from greek ἀγορά meaning a public square and φοβία phobia meaning fear
anthropophobia
social anxiety disorder
social anxiety disorder sad also known as social phobia is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life these fears can be triggered by perceived or actual scrutiny from others
acrophobia
acrophobia from the greek ἄκρον ákron meaning peak summit edge and φόβος phóbos fear is an extreme or irrational fear or phobia of heights especially when one is not particularly high up it belongs to a category of specific phobias called space and motion discomfort that share both similar etiology and options for treatment acrophobia sufferers can experience a panic attack in high places and become too agitated to get themselves down safely approximately two percent of the general population suffers from acrophobia with twice as many women affected as men
phobia
panic disorder
panic disorder is an anxiety disorder characterized by recurrent unexpected panic attacks panic attacks are sudden periods of intense fear that may include palpitations sweating shaking shortness of breath numbness or a feeling that something really bad is going to happen the maximum degree of symptoms occurs within minutes there may be ongoing worries about having further attacks and avoidance of places where attacks have occurred in the past
panic attack
panic attacks are sudden periods of intense fear that may include palpitations sweating shaking shortness of breath numbness or a feeling that something really bad is going to happen the maximum degree of symptoms occurs within minutes there may be a fear of losing control or chest pain panic attacks themselves are not dangerous treatment of panic attacks should be directed at the underlying cause in those with frequent attacks counselling or medications may be used breathing training and muscle relaxation techniques may also help those affected are at a higher risk of suicide
panic attacks are sudden periods of intense fear that may include palpitations sweating shaking shortness of breath numbness or a feeling that something really bad is going to happen the maximum degree of symptoms occurs within minutes there may be a fear of losing control or chest pain panic attacks themselves are not dangerous panic attacks can occur due to number of disorders including panic disorder social anxiety disorder post traumatic stress disorder drug use depression and medical problems they can either be trigger or occur unexpectedly risks factors include smoking and psychological stress diagnosis should involve ruling out other conditions that can produce similar symptoms including hyperthyroidism hyperparathyroidism heart disease lung disease and drug use treatment of panic attacks should be directed at the underlying cause in those with frequent attacks counselling or medications may be used breathing training and muscle relaxation techniques may also help those affected are at a higher risk of suicide in europe about 3 of the population has a panic attack in a given year while in the united states they affect about 11 they are more common in females than males they often begin during puberty or early adulthood children and older people are less commonly affected
generalized anxiety disorder
generalized anxiety disorder gad is an anxiety disorder characterized by excessive uncontrollable and often irrational worry that is apprehensive expectation about events or activities this excessive worry often interferes with daily functioning as individuals with gad typically anticipate disaster and are overly concerned about everyday matters such as health issues money death family problems friendship problems interpersonal relationship problems or work difficulties individuals often exhibit a variety of physical symptoms including fatigue fidgeting headaches nausea numbness in hands and feet muscle tension muscle aches difficulty swallowing excessive stomach acid buildup stomach pain vomiting diarrhea bouts of breathing difficulty difficulty concentrating
obsessive – compulsive disorder
obsessive – compulsive disorder ocd is a mental disorder where people feel the need to check things repeatedly perform certain routines repeatedly called rituals or have certain thoughts repeatedly people are unable to control either the thoughts or the activities for more than a short period of time common activities include hand washing counting of things and checking to see if a door is locked some may have difficulty throwing things out these activities occur to such a degree that the person s daily life is negatively affected often they take up more than an hour a day most adults realize that the behaviors do not make sense the condition is associated with tics anxiety disorder and an increased risk of suicide
obsessive – compulsive disorder ocd is a mental disorder where people feel the need to check things repeatedly perform certain routines repeatedly called rituals or have certain thoughts repeatedly people are unable to control either the thoughts or the activities for more than a short period of time common activities include hand washing counting of things and checking to see if a door is locked some may have difficulty throwing things out these activities occur to such a degree that the person s daily life is negatively affected often they take up more than an hour a day most adults realize that the behaviors do not make sense the condition is associated with tics anxiety disorder and an increased risk of suicide the cause is unknown there appear to be some genetic components with both identical twins more often affected than both non identical twins risk factors include a history of child abuse or other stress inducing event some cases have been documented to occur following infections the diagnosis is based on the symptoms and requires ruling out other drug related or medical causes rating scales such as the yale – brown obsessive compulsive scale can be used to assess the severity other disorders with similar symptoms include anxiety disorder major depressive disorder eating disorders tic disorders and obsessive – compulsive personality disorder treatment involves counselling such as cognitive behavioral therapy cbt and sometimes medication typically selective serotonin reuptake inhibitors ssris cbt for ocd involves increasing exposure to what causes the problems while not allowing the repetitive behavior to occur while clomipramine appears to work as well as ssris it has greater side effects atypical antipsychotics may be useful when used in addition to an ssri in treatment resistant cases but are also associated with an increased risk of side effects without treatment the condition often lasts decades obsessive – compulsive disorder affects about 2 3 of people at some point in their life rates during a given year are about 1 2 and it occurs worldwide it is unusual for symptoms to begin after the age of thirty five and half of people develop problems before twenty males and females are affected about equally in english the phrase obsessive – compulsive is often used in an informal manner unrelated to ocd to describe someone who is excessively meticulous perfectionistic absorbed or otherwise fixated
acute stress reaction
acute stress reaction also called acute stress disorder psychological shock mental shock or simply shock is a psychological condition arising in response to a terrifying or traumatic event or witnessing a traumatic event it should not be confused with the unrelated circulatory condition of shock or the concept of shock value acute stress reaction may develop into ptsd
acute stress reaction also called acute stress disorder psychological shock mental shock or simply shock is a psychological condition arising in response to a terrifying or traumatic event or witnessing a traumatic event it should not be confused with the unrelated circulatory condition of shock or the concept of shock value acute stress reaction may develop into ptsd acute stress response was first described by walter cannon in the 1920 s as a theory that animals react to threats with a general discharge of the sympathetic nervous system the response was later recognized as the first stage of a general adaptation syndrome that regulates stress responses among vertebrates and other organisms
posttraumatic stress disorder
posttraumatic stress disorder ptsd is a mental disorder that can develop after a person is exposed to a traumatic event such as sexual assault warfare traffic collisions or other threats on a person s life symptoms may include disturbing thoughts feelings or dreams related to the events mental or physical distress to trauma related cues attempts to avoid trauma related cues alterations in how a person thinks and feels and increased arousal these symptoms last for more than a month after the event young children are less likely to show distress but instead may express their memories through play those with ptsd are at a higher risk of suicide
posttraumatic stress disorder ptsd is a mental disorder that can develop after a person is exposed to a traumatic event such as sexual assault warfare traffic collisions or other threats on a person s life symptoms may include disturbing thoughts feelings or dreams related to the events mental or physical distress to trauma related cues attempts to avoid trauma related cues alterations in how a person thinks and feels and increased arousal these symptoms last for more than a month after the event young children are less likely to show distress but instead may express their memories through play those with ptsd are at a higher risk of suicide most people who have experienced a traumatic event will not develop ptsd people who experience interpersonal trauma for example rape or child abuse are more likely to develop ptsd as compared to people who experience non assault based trauma such as accidents and natural disasters about half of people develop ptsd following rape children are less likely than adults to develop ptsd after trauma especially if they are under ten years of age diagnosis is based on the presence of specific symptoms following a traumatic event prevention may be possible when therapy is targeted at those with early symptoms but is not effective when carried out among all people following trauma the main treatments for people with ptsd are counselling and medication a number of different types of therapy may be useful this may occur one on one or in a group antidepressants of the selective serotonin reuptake inhibitor type are the first line medications for ptsd and result in benefit in about half of people these benefits are less than those seen with therapy it is unclear if using medications and therapy together has greater benefit other medications do not have enough evidence to support their use and in the case of benzodiazepines may worsen outcomes in the united states about 3 5 of adults have ptsd in a given year and 9 of people develop it at some point in their life in much of the rest of the world rates during a given year are between 0 5 and 1 higher rates may occur in regions of armed conflict it is more common in women than men symptoms of trauma related mental disorders have been documented since at least the time of the ancient greeks during the world wars study increased and it was known under various terms including shell shock and combat neurosis the term posttraumatic stress disorder came into use in the 1970 s in large part due to the diagnoses of us military veterans of the vietnam war it was officially recognized by the american psychiatric association in 1980 in the third edition of the diagnostic and statistical manual of mental disorders dsm iii
adjustment disorder
an adjustment disorder ad — sometimes called exogenous or reactive or situational depression — occurs when an individual is unable to adjust to or cope with a particular stress or a major life event since people with this disorder normally have symptoms that depressed people do such as general loss of interest feelings of hopelessness and crying this disorder is sometimes known as situational depression unlike major depression the disorder is caused by an outside stressor and generally resolves once the individual is able to adapt to the situation one hypothesis about ad is that it may represent a sub threshold clinical syndrome
conversion disorder
conversion disorder cd is a diagnostic category previously used in some psychiatric classification systems it is sometimes applied to patients who present with neurological symptoms such as numbness blindness paralysis or fits which are not consistent with a well established organic cause and which cause significant distress it is thought that these symptoms arise in response to stressful situations affecting a patient s mental health or an ongoing mental health condition such as depression conversion disorder was retained in dsm 5 but given the subtitle functional neurological symptom disorder the new criteria cover the same range of symptoms but remove the requirements for a psychological stressor to be present and for feigning to be disproved
conversion disorder cd is a diagnostic category previously used in some psychiatric classification systems it is sometimes applied to patients who present with neurological symptoms such as numbness blindness paralysis or fits which are not consistent with a well established organic cause and which cause significant distress it is thought that these symptoms arise in response to stressful situations affecting a patient s mental health or an ongoing mental health condition such as depression conversion disorder was retained in dsm 5 but given the subtitle functional neurological symptom disorder the new criteria cover the same range of symptoms but remove the requirements for a psychological stressor to be present and for feigning to be disproved the theory of conversion disorder stems from ancient egypt and was formerly known as hysteria the concept of conversion disorder came to prominence at the end of the 19 th century when the neurologists jean martin charcot and sigmund freud and psychologist pierre janet focused their studies on the subject before their studies people with hysteria were often believed to be malingering the term conversion has its origins in freud s doctrine that anxiety is converted into physical symptoms though previously thought to have vanished from the west in the 20 th century some research has suggested that conversion disorder is as common as ever icd 10 classifies conversion disorder as a dissociative disorder while dsm iv classifies it as a somatoform disorder
dissociative identity disorder
dissociative identity disorder did previously known as multiple personality disorder mpd is a mental disorder characterized by at least two distinct and relatively enduring identities or dissociated personality states that alternately show in a person s behavior accompanied by memory impairment for important information not explained by ordinary forgetfulness these symptoms are not accounted for by substance abuse seizures other medical conditions nor by imaginative play in children diagnosis is often difficult as there is considerable comorbidity with other mental disorders malingering should be considered if there is possible financial or forensic gain as well as factitious disorder if help seeking behavior is prominent
dissociative identity disorder did previously known as multiple personality disorder mpd is a mental disorder characterized by at least two distinct and relatively enduring identities or dissociated personality states that alternately show in a person s behavior accompanied by memory impairment for important information not explained by ordinary forgetfulness these symptoms are not accounted for by substance abuse seizures other medical conditions nor by imaginative play in children diagnosis is often difficult as there is considerable comorbidity with other mental disorders malingering should be considered if there is possible financial or forensic gain as well as factitious disorder if help seeking behavior is prominent did is one of the most controversial psychiatric disorders with no clear consensus on diagnostic criteria or treatment research on treatment efficacy has been concerned primarily with clinical approaches and case studies dissociative symptoms range from common lapses in attention becoming distracted by something else and daydreaming to pathological dissociative disorders no systematic empirically supported definition of dissociation exists it is not the same as schizophrenia although neither epidemiological surveys nor longitudinal studies have been conducted it is generally believed that did rarely resolves spontaneously symptoms are said to vary over time in general the prognosis is poor especially for those with comorbid disorders there are few systematic data on the prevalence of did the international society for the study of trauma and dissociation states that the prevalence is between 1 and 3 in the general population and between 1 and 5 in inpatient groups in europe and north america did is diagnosed more frequently in north america than in the rest of the world and is diagnosed three to nine times more often in females than in males the prevalence of did diagnoses increased greatly in the latter half of the 20 th century along with the number of identities often referred to as alters claimed by patients increasing from an average of two or three to approximately 16 did is also controversial within the legal system where it has been used as a rarely successful form of the insanity defense the 1990 s showed a parallel increase in the number of court cases involving the diagnosis dissociative disorders including did have been attributed to disruptions in memory caused by trauma and other forms of stress but research on this hypothesis has been characterized by poor methodology so far scientific studies usually focusing on memory have been few and the results have been inconclusive an alternative hypothesis for the cause of did is as a by product of techniques employed by some therapists especially those using hypnosis and disagreement between the two positions is characterized by intense debate did became a popular diagnosis in the 1970 s 80 s and 90 s but it is unclear if the actual rate of the disorder increased if it was more recognized by health care providers or if sociocultural factors caused an increase in therapy induced iatrogenic presentations the unusual number of diagnoses after 1980 clustered around a small number of clinicians and the suggestibility characteristic of those with did support the hypothesis that did is therapist induced the unusual clustering of diagnoses has also been explained as due to a lack of awareness and training among clinicians to recognize cases of did
ganser syndrome
ganser syndrome is a rare dissociative disorder previously classified as a factitious disorder it is characterized by nonsensical or wrong answers to questions or doing things incorrectly other dissociative symptoms such as fugue amnesia or conversion disorder often with visual pseudohallucinations and a decreased state of consciousness it is also sometimes called nonsense syndrome balderdash syndrome syndrome of approximate answers pseudodementia hysterical pseudodementia or prison psychosis this last name prison psychosis is sometimes used because the syndrome occurs most frequently in prison inmates where it may represent an attempt to gain leniency from prison or court officials
somatic symptom disorder
a somatic symptom disorder formerly known as a somatoform disorder is a category of mental disorder included in a number of diagnostic schemes of mental illness including the diagnostic and statistical manual of mental disorders latest version dsm 5 used by most mental health professionals in the united states before dsm 5 this disorder was split into somatization disorder briquet s syndrome and undifferentiated somatoform disorder the diagnosis requires physical symptoms that suggest physical illness or injury – symptoms that cannot be explained fully by a general medical condition or by the direct effect of a substance and are not attributable to another mental disorder e g panic disorder
a somatic symptom disorder formerly known as a somatoform disorder is a category of mental disorder included in a number of diagnostic schemes of mental illness including the diagnostic and statistical manual of mental disorders latest version dsm 5 used by most mental health professionals in the united states before dsm 5 this disorder was split into somatization disorder briquet s syndrome and undifferentiated somatoform disorder the diagnosis requires physical symptoms that suggest physical illness or injury – symptoms that cannot be explained fully by a general medical condition or by the direct effect of a substance and are not attributable to another mental disorder e g panic disorder in people who have been diagnosed with a somatic symptom disorder medical test results are either normal or do not explain the person s symptoms and history and physical examination do not indicate the presence of a known medical condition that could cause them though it is important to note that the dsm 5 cautions that this alone is not sufficient for diagnosis the patient must also be excessively worried about their symptoms and this worry must be judged to be out of proportion to the severity of the physical complaints themselves a diagnosis of somatic symptom disorder requires that the subject have recurring somatic complaints for at least six months symptoms are sometimes similar to those of other illnesses and may last for years usually the symptoms begin appearing during adolescence and patients are diagnosed before the age of 30 years symptoms may occur across cultures and gender other common symptoms include anxiety and depression however since anxiety and depression are also very common in persons with confirmed medical illnesses it remains possible that such symptoms are a consequence of the physical impairment rather than a cause somatic symptom disorders are not the result of conscious malingering fabricating or exaggerating symptoms for secondary motives or factitious disorders deliberately producing feigning or exaggerating symptoms somatic symptom disorder is difficult to diagnose and treat some advocates of the diagnosis believe this is because proper diagnosis and treatment requires psychiatrists to work with neurologists on patients with this disorder
multiple chemical sensitivity
multiple chemical sensitivity mcs or idiopathic environmental intolerances iei is a chronic medical condition and syndrome characterized by symptoms that the affected person attributes to low level chemical exposures to commonly used chemicals commonly attributed substances include scented products pesticides plastics synthetic fabrics smoke petroleum products and paint fumes symptoms are subjective and vague symptoms are also non specific meaning that they are common symptoms such as fatigue or headaches that are present in hundreds of other illnesses commonly reported symptoms also include nausea dizziness and inflammation of skin joints gastrointestinal tract and airways
multiple chemical sensitivity mcs or idiopathic environmental intolerances iei is a chronic medical condition and syndrome characterized by symptoms that the affected person attributes to low level chemical exposures to commonly used chemicals commonly attributed substances include scented products pesticides plastics synthetic fabrics smoke petroleum products and paint fumes symptoms are subjective and vague symptoms are also non specific meaning that they are common symptoms such as fatigue or headaches that are present in hundreds of other illnesses commonly reported symptoms also include nausea dizziness and inflammation of skin joints gastrointestinal tract and airways although the symptoms themselves are real and can be disabling mcs is not recognized as an organic chemical caused illness by the world health organization american medical association or any of several other professional medical organizations blinded clinical trials have shown mcs patients react as often and as strongly to placebos as they do to chemical stimuli the existence and severity of symptoms is related to perception that a chemical stimulus is present depression anxiety somatoform disorder and similar mental health conditions are commonly associated with reports of mcs prior to the mid 1980 s when the term multiple chemical sensitivity was coined the syndrome went by such names as universal allergy 20 th century disease chemical hypersensitivity syndrome total allergy syndrome and cerebral allergy
body dysmorphic disorder
body dysmorphic disorder bdd is a mental disorder characterized by an obsessive preoccupation that some aspect of one s own appearance is severely flawed and warrants exceptional measures to hide or fix it in bdd s delusional variant the flaw is imagined if the flaw is actual its importance is severely exaggerated either way one s thoughts about it are pervasive and intrusive occupying up to several hours a day the dsm 5 categorizes bdd in the obsessive – compulsive spectrum and distinguishes it from anorexia nervosa
hypochondriasis
hypochondriasis also known as hypochondria health anxiety or illness anxiety disorder refers to worry about having a serious illness this debilitating condition is the result of an inaccurate perception of the condition of body or mind despite the absence of an actual medical condition an individual suffering from hypochondriasis is known as a hypochondriac hypochondriacs become unduly alarmed about any physical or psychological symptoms they detect no matter how minor the symptom may be and are convinced that they have or are about to be diagnosed with a serious illness
da costa s syndrome
da costa s syndrome which was colloquially known as soldier s heart is a syndrome with a set of symptoms that are similar to those of heart disease though a physical examination does not reveal any physiological abnormalities in modern times da costa s syndrome is considered the manifestation of an anxiety disorder and treatment is primarily behavioral involving modifications to lifestyle and exercise
da costa s syndrome which was colloquially known as soldier s heart is a syndrome with a set of symptoms that are similar to those of heart disease though a physical examination does not reveal any physiological abnormalities in modern times da costa s syndrome is considered the manifestation of an anxiety disorder and treatment is primarily behavioral involving modifications to lifestyle and exercise the condition was named after jacob mendes da costa who investigated and described the disorder during the american civil war it is also variously known as cardiac neurosis chronic asthenia effort syndrome functional cardiovascular disease neurocirculatory asthenia primary neurasthenia subacute asthenia and irritable heart
false pregnancy
false pregnancy phantom pregnancy or hysterical pregnancy — officially called pseudocyesis in humans and pseudopregnancy in other mammals — is the appearance of clinical or subclinical signs and symptoms associated with pregnancy when the organism is not actually pregnant clinically false pregnancy is most common in veterinary medicine particularly in dogs and mice false pregnancy in humans is less common and may sometimes be purely psychological it is generally believed that false pregnancy is caused by changes in the endocrine system of the body leading to the secretion of hormones that cause physical changes similar to those during pregnancy some men experience the same illnesses as a woman would experience while pregnant when their partner is pregnant see couvade syndrome pos
false pregnancy phantom pregnancy or hysterical pregnancy — officially called pseudocyesis in humans and pseudopregnancy in other mammals — is the appearance of clinical or subclinical signs and symptoms associated with pregnancy when the organism is not actually pregnant clinically false pregnancy is most common in veterinary medicine particularly in dogs and mice false pregnancy in humans is less common and may sometimes be purely psychological it is generally believed that false pregnancy is caused by changes in the endocrine system of the body leading to the secretion of hormones that cause physical changes similar to those during pregnancy some men experience the same illnesses as a woman would experience while pregnant when their partner is pregnant see couvade syndrome possibly caused by pheromones that increase estrogen prolactin and cortisol levels
bruxism
bruxism is excessive teeth grinding or jaw clenching it is an oral parafunctional activity i e it is unrelated to normal function such as eating or talking bruxism is a common problem reports of prevalence range from 8 – 31 in the general population several symptoms are commonly associated with bruxism including hypersensitive teeth aching jaw muscles headaches tooth wear damage to dental restorations e g crowns and fillings and damage to teeth however it may cause minimal symptoms and therefore people may not be aware of the condition
bruxism is excessive teeth grinding or jaw clenching it is an oral parafunctional activity i e it is unrelated to normal function such as eating or talking bruxism is a common problem reports of prevalence range from 8 – 31 in the general population several symptoms are commonly associated with bruxism including hypersensitive teeth aching jaw muscles headaches tooth wear damage to dental restorations e g crowns and fillings and damage to teeth however it may cause minimal symptoms and therefore people may not be aware of the condition there are two main types of bruxism that which occurs during sleep sleep bruxism and that which occurs during wakefulness awake bruxism dental damage may be similar in both types but the symptoms of sleep bruxism tend to be worse on waking and improve during the course of the day and the symptoms of awake bruxism may not be present at all on waking and then worsen over the day the causes of bruxism are not completely understood but probably involve multiple factors awake bruxism is thought to have different causes from sleep bruxism and is more common in females whereas males and females are affected in equal proportions by sleep bruxism several treatments are in use although there is little evidence of robust efficacy for any particular treatment
neurasthenia
neurasthenia is a term that was first used at least as early as 1829 to label a mechanical weakness of the actual nerves rather than the more metaphorical nerves referred to by george miller beard later as a psychopathological term neurasthenia was used by beard in 1869 to denote a condition with symptoms of fatigue anxiety headache heart palpitations high blood pressure neuralgia and depressed mood
psychasthenia
dhat syndrome
dhat syndrome sanskrit धातु दोष iast dhātu doṣa is a condition found in the cultures of the indian subcontinent in which male patients report that they suffer from premature ejaculation or impotence and believe that they are passing semen in their urine the condition has no known organic etiology this is based on an old hindu belief that it takes forty drops of blood to create a drop of bone marrow and forty drops of bone marrow to create a drop of sperm
dhat syndrome sanskrit धातु दोष iast dhātu doṣa is a condition found in the cultures of the indian subcontinent in which male patients report that they suffer from premature ejaculation or impotence and believe that they are passing semen in their urine the condition has no known organic etiology in traditional hindu spirituality semen is described as a vital fluid the discharge of this vital fluid either through sex or masturbation is associated with marked feelings of anxiety and dysphoria often the patient describes the loss of a whitish fluid while passing urine at other times marked feelings of guilt associated with what the patient assumes is excessive masturbation are noted this is based on an old hindu belief that it takes forty drops of blood to create a drop of bone marrow and forty drops of bone marrow to create a drop of sperm many doctors view dhat as a folk diagnostic term used in india to refer to anxiety and hypochondriacal concerns associated with the discharge of semen with discoloration of the urine and feelings of weakness and exhaustion dhat is thought to be a culture bound syndrome similar to jiryan south east asia prameha sri lanka and shen k uei china dhat syndrome might be related to other post orgasmic diseases such as post coital tristesse pct postorgasmic illness syndrome pois and sexual headache
writer s cramp
writer s cramp also called mogigraphia and scrivener s palsy is a disorder caused by cramps or spasms of certain muscles of the hand and or forearm and presents itself while performing fine motor tasks such as writing or playing an instrument writer s cramp is a task specific focal dystonia of the hand focal refers to the symptoms being limited to one location the hand in this case and task specific means that symptoms first occur only when the individual engages in a particular activity writer s cramp first affects an individual by interfering with their ability to write especially for prolonged periods of time
eating disorder
eating disorders are mental disorders defined by abnormal eating habits that negatively affect a person s physical or mental health they include binge eating disorder where people eat a large amount in a short period of time anorexia nervosa where people eat very little and thus have a low body weight bulimia nervosa where people eat a lot and then try to rid themselves of the food pica where people eat non food items rumination disorder where people regurgitate food avoidant restrictive food intake disorder where people have a lack of interest in food and a group of other specified feeding or eating disorders anxiety disorders depression and substance abuse are common among people with eating disorders these disorders do not include obesity
anorexia nervosa
anorexia nervosa often referred to simply as anorexia is an eating disorder characterized by a low weight fear of gaining weight a strong desire to be thin and food restriction many people with anorexia see themselves as overweight even though they are in fact underweight if asked they usually deny they have a problem with low weight often they weigh themselves frequently eat only small amounts and only eat certain foods some will exercise excessively force themselves to vomit or use laxatives to produce weight loss complications may include osteoporosis infertility and heart damage among others women will often stop having menstrual periods
anorexia nervosa often referred to simply as anorexia is an eating disorder characterized by a low weight fear of gaining weight a strong desire to be thin and food restriction many people with anorexia see themselves as overweight even though they are in fact underweight if asked they usually deny they have a problem with low weight often they weigh themselves frequently eat only small amounts and only eat certain foods some will exercise excessively force themselves to vomit or use laxatives to produce weight loss complications may include osteoporosis infertility and heart damage among others women will often stop having menstrual periods the cause is not known there appear to be some genetic components with identical twins more often affected than non identical twins cultural factors also appear to play a role with societies that value thinness having higher rates of disease additionally it occurs more commonly among those involved in activities that value thinness such as high level athletics modelling and dancing anorexia often begins following a major life change or stress inducing event the diagnosis requires a significantly low weight the severity of disease is based on body mass index bmi in adults with mild disease having a bmi of greater than 17 moderate a bmi of 16 to 17 severe a bmi of 15 to 16 and extreme a bmi less than 15 in children a bmi for age percentile of less than the 5 th percentile is often used treatment of anorexia involves restoring a healthy weight treating the underlying psychological problems and addressing behaviors that promote the problem while medications do not help with weight gain they may be used to help with associated anxiety or depression a number of types of therapy may be useful including an approach where parents assume responsibility for feeding their child known as maudsley family therapy and cognitive behavioral therapy sometimes people require admission to hospital to restore weight evidence for benefit from nasogastric tube feeding however is unclear some people will just have a single episode and recover while others may have many episodes over years many complications improve or resolve with regaining of weight globally anorexia is estimated to affect two million people as of 2013 it is estimated to occur in 0 9 to 4 3 of women and 0 2 to 0 3 of men in western countries at some point in their life about 0 4 of young females are affected in a given year and it is estimated to occur ten times less commonly in males rates in most of the developing world are unclear often it begins during the teen years or young adulthood while anorexia became more commonly diagnosed during the 20 th century it is unclear if this was due to an increase in its frequency or simply better diagnosis in 2013 it directly resulted in about 600 deaths globally up from 400 deaths in 1990 eating disorders also increase a person s risk of death from a wide range of other causes including suicide about 5 of people with anorexia die from complications over a ten year period the term anorexia nervosa was first used in 1873 by william gull to describe this condition anorexia nervosa has the highest mortality rate of any psychiatric disorder with an smr of 5 86
bulimia nervosa
bulimia nervosa also known as simply bulimia is an eating disorder characterized by binge eating followed by purging binge eating refers to eating a large amount of food in a short amount of time purging refers to the attempts to get rid of the food consumed this may be done by vomiting or taking laxatives other efforts to lose weight may include the use of diuretics stimulants water fasting or excessive exercise most people with bulimia are at a normal weight the forcing of vomiting may result in thickened skin on the knuckles and breakdown of the teeth bulimia is frequently associated with other mental disorders such as depression anxiety and problems with drugs or alcohol there is also a higher risk of suicide and self harm
binge eating disorder
binge eating disorder bed is characterized by binge eating without subsequent purging episodes the disorder was first described in 1959 by psychiatrist and researcher albert stunkard as night eating syndrome nes the term binge eating was coined to describe the same binging type eating behavior but without the exclusive nocturnal component bed is present in 0 8 of male u s adults and 1 6 of female u s adults in a given year
binge eating disorder bed is characterized by binge eating without subsequent purging episodes the disorder was first described in 1959 by psychiatrist and researcher albert stunkard as night eating syndrome nes the term binge eating was coined to describe the same binging type eating behavior but without the exclusive nocturnal component binge eating is one of the most prevalent eating disorders among adults though there tends to be less media coverage and research about the disorder in comparison to anorexia nervosa and bulimia nervosa previously considered a topic for further research exploration binge eating disorder was included in the eating disorders section of the dsm 5 in 2013 bed is present in 0 8 of male u s adults and 1 6 of female u s adults in a given year
clinical vampirism
clinical vampirism more commonly called renfield s syndrome or renfield syndrome is an obsession with drinking blood the earliest formal presentation of clinical vampirism to appear in the psychiatric literature with the psychoanalytic interpretation of two cases was contributed by richard l vanden bergh and john f kelley in 1964 as the authors point out brief and sporadic reports of blood drinking behaviors associated with sexual pleasure have appeared in the psychiatric literature at least since 1892 with the work of austrian forensic psychiatrist richard von krafft ebing many medical publications concerning clinical vampirism can be found in the literature of forensic psychiatry with the unusual behavior reported as one of many aspects of extraordinary violent crimes the beh
pica disorder
pica is characterized by an appetite for substances that are largely non nutritive such as ice pagophagia hair trichophagia paper papyrophagia drywall or paint metal metallophagia stones lithophagia or earth geophagia glass hyalophagia or feces coprophagia and chalk according to dsm iv diagnostic and statistical manual of mental disorders 4 th edition criteria for these actions to be considered pica they must persist for more than one month at an age where eating such objects is considered developmentally inappropriate not part of culturally sanctioned practice and sufficiently severe to warrant clinical attention it can lead to intoxication in children which can result in an impairment in both physical and mental development in addition it can also lead
eating disorder not otherwise specified
eating disorder not otherwise specified ednos is an eating disorder that does not meet the criteria for anorexia nervosa bulimia nervosa or binge eating individuals with ednos usually fall into one of three groups sub threshold symptoms of anorexia or bulimia mixed features of both disorders or extremely atypical eating behaviors that are not characterized by either of the other established disorders people with ednos have similar symptoms and behaviors to those with anorexia and bulimia and can face the same dangerous risks
eating disorder not otherwise specified ednos is an eating disorder that does not meet the criteria for anorexia nervosa bulimia nervosa or binge eating individuals with ednos usually fall into one of three groups sub threshold symptoms of anorexia or bulimia mixed features of both disorders or extremely atypical eating behaviors that are not characterized by either of the other established disorders people with ednos have similar symptoms and behaviors to those with anorexia and bulimia and can face the same dangerous risks ednos is the most prevalent eating disorder about 60 of adults treated for eating disorders are diagnosed with ednos ednos occurs in all genders
sleep disorder
a sleep disorder or somnipathy is a medical disorder of the sleep patterns of a person or animal some sleep disorders are serious enough to interfere with normal physical mental social and emotional functioning polysomnography and actigraphy are tests commonly ordered for some sleep disorders disruptions in sleep can be caused by a variety of issues from teeth grinding bruxism to night terrors when a person suffers from difficulty falling asleep and or staying asleep with no obvious cause it is referred to as insomnia
a sleep disorder or somnipathy is a medical disorder of the sleep patterns of a person or animal some sleep disorders are serious enough to interfere with normal physical mental social and emotional functioning polysomnography and actigraphy are tests commonly ordered for some sleep disorders disruptions in sleep can be caused by a variety of issues from teeth grinding bruxism to night terrors when a person suffers from difficulty falling asleep and or staying asleep with no obvious cause it is referred to as insomnia sleep disorders are broadly classified into dyssomnias parasomnias circadian rhythm sleep disorders involving the timing of sleep and other disorders including ones caused by medical or psychological conditions and sleeping sickness some common sleep disorders include sleep apnea stops in breathing during sleep narcolepsy and hypersomnia excessive sleepiness at inappropriate times cataplexy sudden and transient loss of muscle tone while awake and sleeping sickness disruption of sleep cycle due to infection other disorders include sleepwalking night terrors and bed wetting management of sleep disturbances that are secondary to mental medical or substance abuse disorders should focus on the underlying conditions
international classification of sleep disorders
the international classification of sleep disorders icsd is a primary diagnostic epidemiological and coding resource for clinicians and researchers in the field of sleep and sleep medicine the international classification of sleep disorders icsd was produced by the american academy of sleep medicine aasm in association with the european sleep research society the japanese society of sleep research and the latin american sleep society the classification was developed as a revision and update of the diagnostic classification of sleep and arousal disorders dcsad that was produced by both the association of sleep disorders centers asdc and the association for the psychophysiological study of sleep and was published in the journal sleep in 1979 a second edition called icsd 2
sleepwalking
sleepwalking also known as somnambulism or noctambulism is a phenomenon of combined sleep and wakefulness it is classified as a sleep disorder belonging to the parasomnia family sleepwalking occurs during slow wave sleep stage in a state of low consciousness and perform activities that are usually performed during a state of full consciousness these activities can be as benign as sitting up in bed walking to a bathroom and cleaning or as hazardous as cooking driving violent gestures grabbing at hallucinated objects or even homicide
sleepwalking also known as somnambulism or noctambulism is a phenomenon of combined sleep and wakefulness it is classified as a sleep disorder belonging to the parasomnia family sleepwalking occurs during slow wave sleep stage in a state of low consciousness and perform activities that are usually performed during a state of full consciousness these activities can be as benign as sitting up in bed walking to a bathroom and cleaning or as hazardous as cooking driving violent gestures grabbing at hallucinated objects or even homicide although sleepwalking cases generally consist of simple repeated behaviours there are occasionally reports of people performing complex behaviours while asleep although their legitimacy is often disputed sleepwalkers often have little or no memory of the incident as their consciousness has altered into a state in which it is harder to recall memories although their eyes are open their expression is dim and glazed over sleepwalking may last as little as 30 seconds or as long as 30 minutes sleepwalking occurs during slow wave sleep n 3 of non rapid eye movement sleep nrem sleep cycles sleepwalking typically occurs within the first third of the night when slow wave sleep is most prominent usually if sleepwalking occurs at all it will only occur once in a night
parasomnia
night terror
night terror also known as sleep terror is a sleep disorder causing feelings of terror or dread and typically occurs during the first hours of stage 3 4 non rapid eye movement nrem sleep night terrors tend to happen during periods of arousal from delta sleep also known as slow wave sleep during the first half of a sleep cycle delta sleep occurs most often which indicates that people with more delta sleep activity are more prone to night terrors however they can also occur during daytime naps
nightmare
a nightmare also called a bad dream is an unpleasant dream that can cause a strong emotional response from the mind typically fear but also despair anxiety and great sadness the dream may contain situations of discomfort psychological or physical terror sufferers often awaken in a state of distress and may be unable to return to sleep for a small period recurrent nightmares may require medical help as they can interfere with sleeping patterns and cause insomnia
sexual dysfunction
sexual dysfunction or sexual malfunction or sexual disorder is difficulty experienced by an individual or a couple during any stage of a normal sexual activity including physical pleasure desire preference arousal or orgasm according to the dsm 5 sexual dysfunction requires a person to feel extreme distress and interpersonal strain for a minimum of 6 months excluding substance or medication induced sexual dysfunction sexual dysfunctions can have a profound impact on an individual s perceived quality of sexual life the term sexual disorder may not only refer to physical sexual dysfunction but to paraphilias as well this is sometimes termed disorder of sexual preference
sexual dysfunction or sexual malfunction or sexual disorder is difficulty experienced by an individual or a couple during any stage of a normal sexual activity including physical pleasure desire preference arousal or orgasm according to the dsm 5 sexual dysfunction requires a person to feel extreme distress and interpersonal strain for a minimum of 6 months excluding substance or medication induced sexual dysfunction sexual dysfunctions can have a profound impact on an individual s perceived quality of sexual life the term sexual disorder may not only refer to physical sexual dysfunction but to paraphilias as well this is sometimes termed disorder of sexual preference a thorough sexual history and assessment of general health and other sexual problems if any are very important assessing performance anxiety guilt stress and worry are integral to the optimal management of sexual dysfunction many of the sexual dysfunctions that are defined are based on the human sexual response cycle proposed by william h masters and virginia e johnson and then modified by helen singer kaplan
erectile dysfunction
erectile dysfunction ed or impotence is sexual dysfunction characterized by the inability to develop or maintain an erection of the penis during sexual activity in humans a penile erection is the hydraulic effect of blood entering and being retained in sponge like bodies within the penis the process is most often initiated as a result of sexual arousal when signals are transmitted from the brain to nerves in the penis the most important organic causes of impotence are cardiovascular disease and diabetes neurological problems for example trauma from prostatectomy surgery hormonal insufficiencies hypogonadism and drug side effects
premature ejaculation
premature ejaculation pe occurs when a man experiences orgasm and expels semen soon after sexual activity and with minimal penile stimulation it has also been called early ejaculation rapid ejaculation rapid climax premature climax and historically ejaculatio praecox there is no uniform cut off defining premature but a consensus of experts at the international society for sexual medicine endorsed a definition including ejaculation which always or nearly always occurs prior to or within about one minute the international classification of diseases icd 10 applies a cut off of 15 seconds from the beginning of sexual intercourse
vaginismus
vaginismus sometimes called vaginism and genito pelvic pain disorder is a condition that affects a woman s ability to engage in vaginal penetration including sexual intercourse manual penetration insertion of tampons or menstrual cups and the penetration involved in gynecological examinations pap tests this is the result of an involuntary vaginal muscle spasm which makes any kind of vaginal penetration painful or impossible while there is a lack of evidence to definitively identify which muscle is responsible for the spasm the pubococcygeus muscle sometimes referred to as the pc muscle is most often suggested other muscles such as the levator ani bulbocavernosus circumvaginal and perivaginal muscles have also been suggested
vaginismus sometimes called vaginism and genito pelvic pain disorder is a condition that affects a woman s ability to engage in vaginal penetration including sexual intercourse manual penetration insertion of tampons or menstrual cups and the penetration involved in gynecological examinations pap tests this is the result of an involuntary vaginal muscle spasm which makes any kind of vaginal penetration painful or impossible while there is a lack of evidence to definitively identify which muscle is responsible for the spasm the pubococcygeus muscle sometimes referred to as the pc muscle is most often suggested other muscles such as the levator ani bulbocavernosus circumvaginal and perivaginal muscles have also been suggested a woman with vaginismus does not consciously control the spasm the vaginismic reflex can be compared to the response of the eye shutting when an object comes towards it the severity of vaginismus as well as the pain during penetration including sexual penetration varies from woman to woman
dyspareunia
dyspareunia is painful sexual intercourse due to medical or psychological causes the pain can primarily be on the external surface of the genitalia or deeper in the pelvis upon deep pressure against the cervix it can affect a small portion of the vulva or vagina or be felt all over the surface understanding the duration location and nature of the pain is important in identifying the causes of the pain globally dyspareunia has been estimated to affect between 8 21 of women at some point in their lives
dyspareunia is painful sexual intercourse due to medical or psychological causes the pain can primarily be on the external surface of the genitalia or deeper in the pelvis upon deep pressure against the cervix it can affect a small portion of the vulva or vagina or be felt all over the surface understanding the duration location and nature of the pain is important in identifying the causes of the pain there are numerous physical psychological and social relationship causes that can contribute to pain during sexual encounters commonly multiple underlying causes contribute to the pain the pain can be acquired or congenital symptoms of dyspareunia may also occur after menopause diagnosis is typically by physical examination and a medical history treatment is determined by the underlying causes many women experience relief when physical causes are identified and treated even when the pain can be reproduced during a physical examination the possible role of psychological factors in either causing or maintaining the pain must be acknowledged and dealt with in treatment globally dyspareunia has been estimated to affect between 8 21 of women at some point in their lives
postpartum depression
postpartum depression ppd also called postnatal depression is a type of clinical depression which can affect both sexes after childbirth symptoms may include sadness low energy changes in sleeping and eating patterns reduced desire for sex crying episodes anxiety and irritability while many women experience self limited mild symptoms postpartum postpartum depression should be suspected when symptoms are severe and have lasted over two weeks
postpartum depression ppd also called postnatal depression is a type of clinical depression which can affect both sexes after childbirth symptoms may include sadness low energy changes in sleeping and eating patterns reduced desire for sex crying episodes anxiety and irritability while many women experience self limited mild symptoms postpartum postpartum depression should be suspected when symptoms are severe and have lasted over two weeks although a number of risk factors have been identified the causes of ppd are not well understood hormonal change is hypothesized to contribute as one cause of postpartum depression the emotional effects of postpartum depression can include sleep deprivation anxiety about parenthood and caring for an infant identity crisis a feeling of loss of control over life and anxiety due to lack of support from a romantic or sexual partner many women recover with treatment such as a support group counseling or medication about 0 5 to 61 of women will experience depression after delivery postpartum psychosis occurs in about 1 – 2 per thousand women following childbirth among men in particular new fathers the incidence of postpartum depression has been estimated to be between 1 and 25 5 in the united states postpartum depression is one of the leading causes of the murder of children less than one year of age which occurs in about 8 per 100 000 births
personality disorder
personality disorders are a class of mental disorders characterized by enduring maladaptive patterns of behavior cognition and inner experience exhibited across many contexts and deviating markedly from those accepted by the individual s culture these patterns develop early are inflexible and are associated with significant distress or disability the definitions may vary somewhat according to source
personality disorders are a class of mental disorders characterized by enduring maladaptive patterns of behavior cognition and inner experience exhibited across many contexts and deviating markedly from those accepted by the individual s culture these patterns develop early are inflexible and are associated with significant distress or disability the definitions may vary somewhat according to source official criteria for diagnosing personality disorders are listed in the diagnostic and statistical manual of mental disorders dsm and in the mental and behavioral disorders section of the international statistical classification of diseases and related health problems icd published by the world health organization who the dsm 5 lists personality disorders in the same way as other mental disorders rather than on a separate axis as previously personality defined psychologically is the set of enduring behavioral and mental traits that distinguish between individual humans hence personality disorders are defined by experiences and behaviors that differ from societal norms and expectations those diagnosed with a personality disorder may experience difficulties in cognition emotiveness interpersonal functioning or impulse control in general personality disorders are diagnosed in 40 – 60 of psychiatric patients making them the most frequent of psychiatric diagnosis personality disorders are characterized by an enduring collection of behavioral patterns often associated with considerable personal social and occupational disruption personality disorders are also inflexible and pervasive across many situations largely due to the fact that such behavior may be ego syntonic i e the patterns are consistent with the ego integrity of the individual and are therefore perceived to be appropriate for that individual this behavior can result in maladaptive coping skills which may lead to personal problems that induce extreme anxiety distress or depression these patterns of behavior typically are recognized in adolescence and the beginning of adulthood and in some unusual instances childhood many issues occur with classifying a personality disorder there are many categories of definition some mild and some extreme because the theory and diagnosis of personality disorders occur within prevailing cultural expectations their validity is contested by some experts on the basis of inevitable subjectivity they argue that the theory and diagnosis of personality disorders are based strictly on social or even sociopolitical and economic considerations
paranoid personality disorder
paranoid personality disorder ppd is a mental disorder characterized by paranoia and a pervasive long standing suspiciousness and generalized mistrust of others individuals with this personality disorder may be hypersensitive easily insulted and habitually relate to the world by vigilant scanning of the environment for clues or suggestions that may validate their fears or biases paranoid individuals are eager observers they think they are in danger and look for signs and threats of that danger potentially not appreciating other evidence
paranoid personality disorder ppd is a mental disorder characterized by paranoia and a pervasive long standing suspiciousness and generalized mistrust of others individuals with this personality disorder may be hypersensitive easily insulted and habitually relate to the world by vigilant scanning of the environment for clues or suggestions that may validate their fears or biases paranoid individuals are eager observers they think they are in danger and look for signs and threats of that danger potentially not appreciating other evidence they tend to be guarded and suspicious and have quite constricted emotional lives their reduced capacity for meaningful emotional involvement and the general pattern of isolated withdrawal often lend a quality of schizoid isolation to their life experience people with ppd may have a tendency to bear grudges suspiciousness tendency to interpret others actions as hostile persistent tendency to self reference or a tenacious sense of personal right patients with this disorder can also have significant comorbidity with other personality disorders
schizoid personality disorder
schizoid personality disorder spd is a personality disorder characterized by a lack of interest in social relationships a tendency towards a solitary or sheltered lifestyle secretiveness emotional coldness and apathy affected individuals may simultaneously demonstrate a rich elaborate and exclusively internal fantasy world
schizoid personality disorder spd is a personality disorder characterized by a lack of interest in social relationships a tendency towards a solitary or sheltered lifestyle secretiveness emotional coldness and apathy affected individuals may simultaneously demonstrate a rich elaborate and exclusively internal fantasy world spd is not to be confused with schizophrenia schizotypal personality disorder or antisocial personality disorder there are however links and evidence of shared genetic risk between spd and other cluster a personality disorders and schizophrenia and spd is thought to be part of the schizophrenic spectrum of disorders
antisocial personality disorder
antisocial personality disorder aspd also known as dissocial personality disorder dpd and sociopathy is a personality disorder characterized by a pervasive pattern of disregard for or violation of the rights of others an impoverished moral sense or conscience is often apparent as well as a history of crime legal problems or impulsive and aggressive behavior
antisocial personality disorder aspd also known as dissocial personality disorder dpd and sociopathy is a personality disorder characterized by a pervasive pattern of disregard for or violation of the rights of others an impoverished moral sense or conscience is often apparent as well as a history of crime legal problems or impulsive and aggressive behavior antisocial personality disorder is the name of the disorder as defined in the diagnostic and statistical manual of mental disorders dsm dissocial personality disorder dpd is the name of a similar or equivalent concept defined in the international statistical classification of diseases and related health problems icd where it states that the diagnosis includes antisocial personality disorder both manuals have similar but not identical criteria for diagnosing the disorder both have also stated that their diagnoses have been referred to or include what is referred to as psychopathy or sociopathy but distinctions have been made between the conceptualizations of antisocial personality disorder and psychopathy with many researchers arguing that psychopathy is a disorder that overlaps with but is distinguishable from aspd
psychopathy
psychopathy saɪˈkɒpəθi sociopathy soʊsiˈɒpəθi is traditionally defined as a personality disorder characterized by persistent antisocial behavior impaired empathy and remorse and bold disinhibited egotistical traits different conceptions of psychopathy have been used throughout history that are only partly overlapping and sometimes appear contradictory
borderline personality disorder
borderline personality disorder bpd also known as emotionally unstable personality disorder is a long term pattern of abnormal behavior characterized by unstable relationships with other people unstable sense of self and unstable emotions there is often an extreme fear of abandonment frequent dangerous behavior a feeling of emptiness and self harm symptoms may be brought on by seemingly normal events the behavior typically begins by early adulthood and occurs across a variety of situations substance abuse depression and eating disorders are commonly associated with bpd about 10 of those with bpd die by suicide
histrionic personality disorder
histrionic personality disorder hpd is defined by the american psychiatric association as a personality disorder characterized by a pattern of excessive attention seeking emotions usually beginning in early adulthood including inappropriately seductive behavior and an excessive need for approval histrionic people are lively dramatic vivacious enthusiastic and flirtatious hpd affects four times as many women as men it has a prevalence of 2 – 3 in the general population and 10 – 15 in inpatient and outpatient mental health institutions
obsessive – compulsive personality disorder
obsessive – compulsive personality disorder ocpd is a personality disorder characterized by a general pattern of concern with orderliness perfectionism excessive attention to details mental and interpersonal control and a need for control over one s environment at the expense of flexibility openness to experience and efficiency workaholism and miserliness are also seen often in those with this personality disorder rituals are performed to the point of excluding leisure activities and friendships persons affected with this disorder may find it hard to relax always feeling that time is running out for their activities and that more effort is needed to achieve their goals they may plan their activities down to the minute — a manifestation of the compulsive tendency to keep control
obsessive – compulsive personality disorder ocpd is a personality disorder characterized by a general pattern of concern with orderliness perfectionism excessive attention to details mental and interpersonal control and a need for control over one s environment at the expense of flexibility openness to experience and efficiency workaholism and miserliness are also seen often in those with this personality disorder rituals are performed to the point of excluding leisure activities and friendships persons affected with this disorder may find it hard to relax always feeling that time is running out for their activities and that more effort is needed to achieve their goals they may plan their activities down to the minute — a manifestation of the compulsive tendency to keep control over their environment and to dislike unpredictable things as things they cannot control the cause of ocpd is unknown this is a distinct disorder from obsessive – compulsive disorder ocd and the relation between the two is contentious some but not all studies have found high comorbidity rates between the two disorders and both may share outside similarities – rigid and ritual like behaviors for example hoarding orderliness and a need for symmetry and organization are often seen in people with either disorder attitudes toward these behaviors differ between people affected with either of the disorders for people with ocd these behaviors are unwanted and seen as unhealthy being the product of anxiety inducing and involuntary thoughts while for people with ocpd they are egosyntonic that is they are perceived by the subject as rational and desirable being the result of for example a strong adherence to routines a natural inclination towards cautiousness or a desire to achieve perfection ocpd occurs in about 2 – 8 of the general population and 8 – 9 of psychiatric outpatients the disorder more often occurs in men
avoidant personality disorder
avoidant personality disorder avpd also known as anxious personality disorder is a cluster c personality disorder those affected display a pattern of social inhibition feelings of inadequacy and inferiority extreme sensitivity to negative evaluation and avoidance of social interaction despite a strong desire to be close to others individuals with the disorder tend to describe themselves as uneasy anxious lonely unwanted and isolated from others the behavior typically begins by early adulthood and occurs across a variety of situations
dependent personality disorder
dependent personality disorder dpd formerly known as asthenic personality disorder is a personality disorder that is characterized by a pervasive psychological dependence on other people this personality disorder is a long term condition in which people depend on others to meet their emotional and physical needs with only a minority achieving normal levels of independence
dependent personality disorder dpd formerly known as asthenic personality disorder is a personality disorder that is characterized by a pervasive psychological dependence on other people this personality disorder is a long term condition in which people depend on others to meet their emotional and physical needs with only a minority achieving normal levels of independence the cause of dependent personality disorder is unknown ta study in 2012 estimated that between 55 and 72 of the risk of the condition is inherited from one s parents the difference between a dependent personality and a dependent personality disorder is somewhat subjective which makes diagnosis sensitive to cultural influences such as gender role expectations
narcissistic personality disorder
narcissistic personality disorder npd is a long term pattern of abnormal behavior characterized by exaggerated feelings of self importance an excessive need for admiration and a lack of understanding of others feelings people affected by it often spend a lot of time thinking about achieving power or success or about their appearance they often take advantage of the people around them the behavior typically begins by early adulthood and occurs across a variety of situations
narcissistic personality disorder npd is a long term pattern of abnormal behavior characterized by exaggerated feelings of self importance an excessive need for admiration and a lack of understanding of others feelings people affected by it often spend a lot of time thinking about achieving power or success or about their appearance they often take advantage of the people around them the behavior typically begins by early adulthood and occurs across a variety of situations the cause of narcissistic personality disorder is unknown it is a personality disorder classified within cluster b by the diagnostic and statistical manual of mental disorders diagnosis is by a healthcare professional interviewing the person in question the condition needs to be differentiated from mania and substance use disorder treatments have not been well studied therapy is often difficult as people frequently do not consider themselves to have a problem the personality was first described in 1925 by robert waelder while the current name for the condition came into use in 1968 about one percent of people are believed to be affected at some point in their life it appears to occur more often in males than females and affects young people more than older people
passive aggressive behavior
passive aggressive behavior is the indirect expression of hostility such as through procrastination stubbornness sullen behavior or deliberate or repeated failure to accomplish requested tasks for which one is often explicitly responsible for research purposes the diagnostic and statistical manual of mental disorders dsm revision iv describes passive aggressive personality disorder as a pervasive pattern of negativistic attitudes and passive resistance to demands for adequate performance in social and occupational situations
passive aggressive behavior is the indirect expression of hostility such as through procrastination stubbornness sullen behavior or deliberate or repeated failure to accomplish requested tasks for which one is often explicitly responsible for research purposes the diagnostic and statistical manual of mental disorders dsm revision iv describes passive aggressive personality disorder as a pervasive pattern of negativistic attitudes and passive resistance to demands for adequate performance in social and occupational situations passive aggressive behaviour often utilises malicious compliance that is veiling one s intent to not do something in performing the specific task in such a way that an unwanted result is caused
impulse control disorder
impulse control disorder icd is a class of psychiatric disorders characterized by impulsivity – failure to resist a temptation urge or impulse that may harm oneself or others many psychiatric disorders feature impulsivity including substance related disorders attention deficit hyperactivity disorder antisocial personality disorder borderline personality disorder conduct disorder and mood disorders five behavioural stages characterize impulsivity an impulse growing tension pleasure on acting relief from the urge and finally guilt which may or may not arise
impulse control disorder icd is a class of psychiatric disorders characterized by impulsivity – failure to resist a temptation urge or impulse that may harm oneself or others many psychiatric disorders feature impulsivity including substance related disorders attention deficit hyperactivity disorder antisocial personality disorder borderline personality disorder conduct disorder and mood disorders the fifth edition of the american psychiatric association s diagnostic and statistical manual of mental disorders dsm 5 that was published in 2013 includes a new chapter not in dsm iv tr on disruptive impulse control and conduct disorders covering disorders characterized by problems in emotional and behavioral self control it also includes impulse control disorders not elsewhere classified which encompasses intermittent explosive disorder pyromania and kleptomania five behavioural stages characterize impulsivity an impulse growing tension pleasure on acting relief from the urge and finally guilt which may or may not arise
problem gambling
problem gambling or ludomania but usually referred to as gambling addiction or compulsive gambling is an urge to gamble continuously despite harmful negative consequences or a desire to stop problem gambling is often defined by whether harm is experienced by the gambler or others rather than by the gambler s behavior severe problem gambling may be diagnosed as clinical pathological gambling if the gambler meets certain criteria pathological gambling is a common disorder that is associated with both social and family costs
problem gambling or ludomania but usually referred to as gambling addiction or compulsive gambling is an urge to gamble continuously despite harmful negative consequences or a desire to stop problem gambling is often defined by whether harm is experienced by the gambler or others rather than by the gambler s behavior severe problem gambling may be diagnosed as clinical pathological gambling if the gambler meets certain criteria pathological gambling is a common disorder that is associated with both social and family costs the dsm 5 has re classified the condition as an addictive disorder with sufferers exhibiting many similarities to those who have substance addictions the term gambling addiction has long been used in the recovery movement pathological gambling was long considered by the american psychiatric association to be an impulse control disorder rather than an addiction however data suggest a closer relationship between pathological gambling and substance use disorders than exists between pg and obsessive compulsive disorder largely because the behaviors in problem gambling and most primary substance use disorders i e those not resulting from a desire to self medicate for another condition such as depression seek to activate the brain s reward mechanisms while the behaviors characterizing obsessive compulsive disorder are prompted by overactive and misplaced signals from the brain s fear mechanisms
pyromania
pyromania is an impulse control disorder in which individuals repeatedly fail to resist impulses to deliberately start fires in order to relieve tension or for instant gratification the term pyromania comes from the greek word πῦρ pyro fire pyromania is distinct from arson the deliberate setting of fires for personal monetary or political gain pyromaniacs start fires to induce euphoria and often fixate on institutions of fire control like fire stations and firefighters pyromania is a type of impulse control disorder along with kleptomania intermittent explosive disorder and others
kleptomania
kleptomania or klopemania is the inability to refrain from the urge to steal items and is done for reasons other than personal use or financial gain first described in 1816 kleptomania is classified in psychiatry as an impulse control disorder alternatively some of the main characteristics of the disorder which consist of recurring intrusion feelings an inability to resist the urge to steal and a release of pressure following the theft suggest that kleptomania could be an obsessive compulsive spectrum disorder although this is disputed
trichotillomania
trichotillomania also known as hair pulling disorder is an impulse control disorder characterised by a long term urge that results in the pulling out of one s hair this occurs to such a degree that hair loss can be seen efforts to stop pulling hair typically fail hair removal may occur anywhere however the head and around the eyes are most common the hair pulling is to such a degree that it results in distress
intermittent explosive disorder
intermittent explosive disorder sometimes abbreviated as ied is a behavioral disorder characterized by explosive outbursts of anger and violence often to the point of rage that are disproportionate to the situation at hand e g impulsive screaming triggered by relatively inconsequential events impulsive aggression is unpremeditated and is defined by a disproportionate reaction to any provocation real or perceived some individuals have reported affective changes prior to an outburst e g tension mood changes energy changes etc
intermittent explosive disorder sometimes abbreviated as ied is a behavioral disorder characterized by explosive outbursts of anger and violence often to the point of rage that are disproportionate to the situation at hand e g impulsive screaming triggered by relatively inconsequential events impulsive aggression is unpremeditated and is defined by a disproportionate reaction to any provocation real or perceived some individuals have reported affective changes prior to an outburst e g tension mood changes energy changes etc the disorder is currently categorized in the diagnostic and statistical manual of mental disorders dsm 5 under the disruptive impulse control and conduct disorders category the disorder itself is not easily characterized and often exhibits comorbidity with other mood disorders particularly bipolar disorder individuals diagnosed with ied report their outbursts as being brief lasting less than an hour with a variety of bodily symptoms sweating stuttering chest tightness twitching palpitations reported by a third of one sample aggressive acts are frequently reported accompanied by a sensation of relief and in some cases pleasure but often followed by later remorse
transsexual
gender dysphoria
gender dysphoria or gender identity disorder gid is the dysphoria distress a person experiences as a result of the sex and gender they were assigned at birth there is evidence suggesting that people who identify with a gender different from the one they were assigned at birth may do so not just due to psychological or behavioral causes but also biological ones related to their genetics or exposure to hormones before birth
gender dysphoria or gender identity disorder gid is the dysphoria distress a person experiences as a result of the sex and gender they were assigned at birth there is evidence suggesting that people who identify with a gender different from the one they were assigned at birth may do so not just due to psychological or behavioral causes but also biological ones related to their genetics or exposure to hormones before birth estimates of the prevalence of gender dysphoria or gid range from a lower bound of 1 2000 or about 0 05 in the netherlands and belgium to 0 5 of massachusetts adults to 1 2 of new zealand high school students these numbers are based on those who identify as transgender it is estimated that about 0 005 to 0 014 of males and 0 002 to 0 003 of females would be diagnosed with gender dysphoria based on current diagnostic criteria research indicates people who transition in adulthood are up to three times more likely to be male assigned at birth but that among people transitioning in childhood the sex ratio is close to 1 1 gid is classified as a disorder by the icd 10 cm and dsm 5 called gender dysphoria some transgender people and researchers support declassification of gid because they say the diagnosis pathologizes gender variance reinforces the binary model of gender and can result in stigmatization of transgender individuals the official reclassification as gender dysphoria in the dsm 5 may help resolve some of these issues because the term gender dysphoria applies only to the discontent experienced by some persons resulting from gender identity issues the american psychiatric association publisher of the dsm 5 states that gender nonconformity is not in itself a mental disorder the critical element of gender dysphoria is the presence of clinically significant distress associated with the condition the current main psychiatric approaches to treatment for persons diagnosed with gid are psychotherapy or to support the individual s preferred gender through hormone therapy gender expression and role or surgery
paraphilia
paraphilia also known as sexual perversion and sexual deviation is the experience of intense sexual arousal to atypical objects fetishes situations fantasies behaviors or individuals no consensus has been found for any precise border between unusual sexual interests and paraphilic ones there is debate over which if any of the paraphilias should be listed in diagnostic manuals such as the diagnostic and statistical manual of mental disorders dsm or the international classification of diseases icd
paraphilia also known as sexual perversion and sexual deviation is the experience of intense sexual arousal to atypical objects fetishes situations fantasies behaviors or individuals no consensus has been found for any precise border between unusual sexual interests and paraphilic ones there is debate over which if any of the paraphilias should be listed in diagnostic manuals such as the diagnostic and statistical manual of mental disorders dsm or the international classification of diseases icd the number and taxonomy of paraphilias is under debate one source lists as many as 549 types of paraphilias the dsm 5 has specific listings for eight paraphilic disorders several sub classifications of the paraphilias have been proposed and some argue that a fully dimensional spectrum or complaint oriented approach would better reflect the evidence
sexual fetishism
sexual fetishism or erotic fetishism is a sexual focus on a nonliving object or nongenital body part the object of interest is called the fetish the person who has a fetish for that object is a fetishist a sexual fetish may be regarded as a non pathological aid to sexual excitement or as a mental disorder if it causes significant psychosocial distress for the person or has detrimental effects on important areas of their life sexual arousal from a particular body part can be further classified as partialism
sexual fetishism or erotic fetishism is a sexual focus on a nonliving object or nongenital body part the object of interest is called the fetish the person who has a fetish for that object is a fetishist a sexual fetish may be regarded as a non pathological aid to sexual excitement or as a mental disorder if it causes significant psychosocial distress for the person or has detrimental effects on important areas of their life sexual arousal from a particular body part can be further classified as partialism while medical definitions restrict the term sexual fetishism to objects or body parts fetish can also refer to sexual interest in specific activities in common discourse
voyeurism
voyeurism is the sexual interest in or practice of spying on people engaged in intimate behaviors such as undressing sexual activity or other actions usually considered to be of a private nature the voyeur does not normally interact directly with the subject of his her interest who is often unaware of being observed the essence of voyeurism is the observing but may also involve the making of a secret photograph or video of the subject during an intimate activity
pedophilia
pedophilia or paedophilia is a psychiatric disorder in which an adult or older adolescent experiences a primary or exclusive sexual attraction to prepubescent children although girls typically begin the process of puberty at age 10 or 11 and boys at age 11 or 12 criteria for pedophilia extend the cut off point for prepubescence to age 13 a person who is diagnosed with pedophilia must be at least 16 years old but adolescents must be at least five years older than the prepubescent child for the attraction to be diagnosed as pedophilia
pedophilia or paedophilia is a psychiatric disorder in which an adult or older adolescent experiences a primary or exclusive sexual attraction to prepubescent children although girls typically begin the process of puberty at age 10 or 11 and boys at age 11 or 12 criteria for pedophilia extend the cut off point for prepubescence to age 13 a person who is diagnosed with pedophilia must be at least 16 years old but adolescents must be at least five years older than the prepubescent child for the attraction to be diagnosed as pedophilia pedophilia is termed pedophilic disorder in the diagnostic and statistical manual of mental disorders dsm 5 and the manual defines it as a paraphilia involving intense and recurrent sexual urges towards and fantasies about prepubescent children that have either been acted upon or which cause the person with the attraction distress or interpersonal difficulty the international classification of diseases icd 10 defines it as a sexual preference for children of prepubertal or early pubertal age in popular usage the word pedophilia is often applied to any sexual interest in children or the act of child sexual abuse this use conflates the sexual attraction to prepubescent children with the act of child sexual abuse and fails to distinguish between attraction to prepubescent and pubescent or post pubescent minors researchers recommend that these imprecise uses be avoided because although people who commit child sexual abuse sometimes exhibit the disorder child sexual abuse offenders are not pedophiles unless they have a primary or exclusive sexual interest in prepubescent children and the literature indicates the existence of pedophiles who do not molest children pedophilia was first formally recognized and named in the late 19 th century a significant amount of research in the area has taken place since the 1980 s although mostly documented in men there are also women who exhibit the disorder and researchers assume available estimates underrepresent the true number of female pedophiles no cure for pedophilia has been developed but there are therapies that can reduce the incidence of a person committing child sexual abuse the exact causes of pedophilia have not been conclusively established some studies of pedophilia in child sex offenders have correlated it with various neurological abnormalities and psychological pathologies in the united states following kansas v hendricks sex offenders who are diagnosed with certain mental disorders particularly pedophilia can be subject to indefinite civil commitment
necrophilia
necrophilia also called thanatophilia is a sexual attraction or sexual act involving corpses the attraction is classified as a paraphilia by the diagnostic and statistical manual dsm of the american psychiatric association the term was coined by the belgian alienist joseph guislain who first used it in a lecture in 1850 it derives from the greek words νεκρός nekros dead and φιλία philia love
post coital tristesse
post coital tristesse pct or post coital dysphoria pcd is the feeling of sadness anxiety agitation or aggression after sexual intercourse its name comes from new latin postcoitalis and french tristesse literally sadness many people with pct may exhibit strong feelings of anxiety lasting from five minutes to two hours after coitus one study reported that almost half of female university students reported pcd symptoms at least once in their lifetime the study also reported that there appeared to be no correlation between pcd and intimacy in close relationships
ego dystonic sexual orientation
ego dystonic sexual orientation is an ego dystonic mental disorder characterized by having a sexual orientation or an attraction that is at odds with one s idealized self image causing anxiety and a desire to change one s orientation or become more comfortable with one s sexual orientation it describes not innate sexual orientation itself but a conflict between the sexual orientation one wishes to have and the sexual orientation one actually possesses
munchausen syndrome
münchausen syndrome is a psychiatric factitious disorder wherein those affected feign disease illness or psychological trauma to draw attention sympathy or reassurance to themselves munchausen syndrome fits within the subclass of factitious disorder with predominantly physical signs and symptoms but patients also have a history of recurrent hospitalization travelling and dramatic extremely improbable tales of their past experiences the condition derives its name from the fictional character baron munchausen
lujan – fryns syndrome
lujan – fryns syndrome lfs also referred to as x linked mental retardation with marfanoid habitus and lujan syndrome is an x linked genetic disorder that causes mild to moderate intellectual disability and features described as marfanoid habitus referring to a group of physical characteristics similar to those found in marfan syndrome these features include a tall thin stature and long slender limbs lfs is also associated with psychopathology and behavioral abnormalities and it exhibits a number of malformations affecting the brain and heart the disorder is inherited in an x linked dominant manner and is attributed to a missense mutation in the med 12 gene there is currently no treatment or therapy for the underlying med 12 malfunction and the exact etiology of the disorder remai
intellectual disability
intellectual disability id also known as general learning disability and mental retardation mr is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning it is defined by an iq score under 70 in addition to deficits in two or more adaptive behaviors that affect everyday general living once focused almost entirely on cognition the definition now includes both a component relating to mental functioning and one relating to individuals functional skills in their environments as a result of this focus on the person s abilities in practice a person with an unusually low iq may not be considered intellectually disabled intellectual disability is subdivided into syndromic intellectual disability in which intellectual d
intellectual disability id also known as general learning disability and mental retardation mr is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning it is defined by an iq score under 70 in addition to deficits in two or more adaptive behaviors that affect everyday general living once focused almost entirely on cognition the definition now includes both a component relating to mental functioning and one relating to individuals functional skills in their environments as a result of this focus on the person s abilities in practice a person with an unusually low iq may not be considered intellectually disabled intellectual disability is subdivided into syndromic intellectual disability in which intellectual deficits associated with other medical and behavioral signs and symptoms are present and non syndromic intellectual disability in which intellectual deficits appear without other abnormalities down syndrome and fragile x syndrome are examples of syndromic intellectual disabilities intellectual disability affects about 2 – 3 of the general population seventy five to ninety percent of the affected people have mild intellectual disability non syndromic or idiopathic cases account for 30 – 50 of cases about a quarter of cases are caused by a genetic disorder and about 5 of cases are inherited from a person s parents cases of unknown cause affect about 95 million people as of 2013 the terms used for this condition are subject to a process called the euphemism treadmill this means that whatever term is chosen for this condition it eventually becomes perceived as an insult the terms mental retardation and mentally retarded were invented in the middle of the 20 th century to replace the previous set of terms which were deemed to have become offensive by the end of the 20 th century these terms themselves have come to be widely seen as disparaging politically incorrect and in need of replacement the term intellectual disability is now preferred by most advocates and researchers in most english speaking countries as of 2015 the term mental retardation is still used by the world health organization in the icd 10 codes which have a section titled mental retardation codes f 70 – f 79 in the next revision the icd 11 is expected to replace the term mental retardation with either intellectual disability or intellectual developmental disorder which the dsm 5 already uses because of its specificity and lack of confusion with other conditions the term mental retardation is still sometimes used in professional medical settings around the world such as formal scientific research and health insurance paperwork
language disorder
language disorders or language impairments are disorders that involve the processing of linguistic information problems that may be experienced can involve grammar syntax and or morphology semantics meaning or other aspects of language these problems may be receptive involving impaired language comprehension expressive involving language production or a combination of both examples include specific language impairment and aphasia among others language disorders can affect both spoken and written language and can also affect sign language typically all forms of language will be impaired
specific developmental disorder
specific developmental disorders are disorders in which development is delayed in one specific area or areas and in which basically all other areas of development are not affected specific developmental disorders are as opposed to pervasive developmental disorders that are characterized by delays in the development of multiple basic functions including socialization and communication
expressive aphasia
expressive aphasia non fluent aphasia is characterized by the loss of the ability to produce language spoken or written a person with expressive aphasia will exhibit effortful speech speech may only include important content words and leave out insignificant words like the this is known as telegraphic speech the person may still be understood but sentences will not be grammatical in very severe forms of expressive aphasia a person may only speak using single word utterances it is one subset of a larger family of disorders known collectively as aphasia expressive aphasia differs from dysarthria which is typified by a patient s inability to properly move the muscles of the tongue and mouth to produce speech expressive aphasia also differs from apraxia of speech which is a
receptive aphasia
receptive aphasia also known as wernicke s aphasia fluent aphasia or sensory aphasia is a type of aphasia in which an individual is unable to understand language in its written or spoken form even though they can speak using grammar syntax rate and intonation they typically have difficulty expressing themselves meaningfully through speech receptive aphasia was named after carl wernicke who recognized this condition people with receptive aphasia are typically unaware of how they are speaking and do not realize their speech may lack meaning this is due to the fact that they have poor comprehension skills and do not understand their own speech they typically remain unaware of even their most profound language deficits when experienced with broca s aphasia the patient displays g
agnosia
landau – kleffner syndrome
landau – kleffner syndrome lks — also called infantile acquired aphasia acquired epileptic aphasia or aphasia with convulsive disorder — is a rare childhood neurological syndrome it is named after william landau and frank kleffner who characterized it in 1957 with a diagnosis of six children
lisp
a lisp also known as sigmatism is a speech impediment in which a person misarticulates sibilants s z ts dz ʃ ʒ tʃ dʒ these misarticulations often result in unclear speech
dyslexia
dyslexia also known as reading disorder is characterized by trouble with reading despite normal intelligence different people are affected to varying degrees problems may include difficulties in spelling words reading quickly writing words sounding out words in the head pronouncing words when reading aloud and understanding what one reads often these difficulties are first noticed at school when someone who previously could read loses their ability it is known as alexia the difficulties are involuntary and people with this disorder have a normal desire to learn
dyslexia also known as reading disorder is characterized by trouble with reading despite normal intelligence different people are affected to varying degrees problems may include difficulties in spelling words reading quickly writing words sounding out words in the head pronouncing words when reading aloud and understanding what one reads often these difficulties are first noticed at school when someone who previously could read loses their ability it is known as alexia the difficulties are involuntary and people with this disorder have a normal desire to learn dyslexia is believed to be caused by both genetic and environmental factors some cases run in families it often occurs in people with attention deficit hyperactivity disorder adhd and is associated with similar difficulties with numbers it may begin in adulthood as the result of a traumatic brain injury stroke or dementia the underlying mechanisms of dyslexia are problems within the brain s language processing dyslexia is diagnosed through a series of tests of memory spelling vision and reading skills dyslexia is separate from reading difficulties caused by hearing or vision problems or by insufficient teaching treatment involves adjusting teaching methods to meet the person s needs while not curing the underlying problem it may decrease the degree of symptoms treatments targeting vision are not effective dyslexia is the most common learning disability and occurs in all areas of the world it affects 3 – 7 of the population however up to 20 may have some degree of symptoms while dyslexia is more often diagnosed in men it has been suggested that it affects men and women equally some believe that dyslexia should be best considered as a different way of learning with both benefits and downsides
gerstmann syndrome
dyscalculia
dyscalculia ˌdɪskælˈkjuːli ə is difficulty in learning or comprehending arithmetic such as difficulty in understanding numbers learning how to manipulate numbers and learning facts in mathematics it is generally seen as a specific developmental disorder dyscalculia can occur in people from across the whole iq range often higher than average and involving difficulties with time measurement and spatial reasoning estimates of the prevalence of dyscalculia range between 3 and 6 of the population a quarter of children with dyscalculia have adhd
learning disability
learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner usually caused by an unknown factor or factors given the difficulty learning in a typical manner this does not exclude the ability to learn in a different manner therefore some people can be more accurately described as having a learning difference thus avoiding any misconception of being disabled with a lack of ability to learn and possible negative stereotyping
learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner usually caused by an unknown factor or factors given the difficulty learning in a typical manner this does not exclude the ability to learn in a different manner therefore some people can be more accurately described as having a learning difference thus avoiding any misconception of being disabled with a lack of ability to learn and possible negative stereotyping while learning disability learning disorder and learning difficulty are often used interchangeably they differ in many ways disorder refers to significant learning problems in an academic area these problems however are not enough to warrant an official diagnosis learning disability on the other hand is an official clinical diagnosis whereby the individual meets certain criteria as determined by a professional psychologist pediatrician etc the difference is in degree frequency and intensity of reported symptoms and problems and thus the two should not be confused when the term learning disorder is used it describes a group of disorders characterized by inadequate development of specific academic language and speech skills types of learning disorders include reading dyslexia mathematics dyscalculia and writing dysgraphia the unknown factor is the disorder that affects the brain s ability to receive and process information this disorder can make it problematic for a person to learn as quickly or in the same way as someone who is not affected by a learning disability people with a learning disability have trouble performing specific types of skills or completing tasks if left to figure things out by themselves or if taught in conventional ways individuals with learning disabilities can face unique challenges that are often pervasive throughout the lifespan depending on the type and severity of the disability interventions and current technologies may be used to help the individual learn strategies that will foster future success some interventions can be quite simplistic while others are intricate and complex current technologies may require student training to be effective classroom supports teachers parents and schools can create plans together that tailor intervention and accommodations to aid the individuals in successfully becoming independent learners school psychologists and other qualified professionals quite often help design the intervention and coordinate the execution of the intervention with teachers and parents social support may improve the learning for students with learning disabilities
developmental coordination disorder
developmental coordination disorder dcd also known as developmental dyspraxia or quite simply dyspraxia is a chronic neurological disorder beginning in childhood that can affect planning of movements and co ordination as a result of brain messages not being accurately transmitted to the body developmental coordination disorder is diagnosed in the absence of other neurological impairments like cerebral palsy muscular dystrophy multiple sclerosis or parkinson s disease it affects 5 to 6 percent of school aged children this disorder progresses to adulthood therefore making it a lifelong condition
pervasive developmental disorder
the diagnostic category pervasive developmental disorders pdd as opposed to specific developmental disorders sdd refers to a group of five disorders characterized by delays in the development of multiple basic functions including socialization and communication the pervasive developmental disorders are pervasive developmental disorder not otherwise specified pdd nos which includes atypical autism and is the most common autism the best known now understood to be part of a spectrum asperger syndrome rett syndrome and childhood disintegrative disorder cdd
the diagnostic category pervasive developmental disorders pdd as opposed to specific developmental disorders sdd refers to a group of five disorders characterized by delays in the development of multiple basic functions including socialization and communication the pervasive developmental disorders are pervasive developmental disorder not otherwise specified pdd nos which includes atypical autism and is the most common autism the best known now understood to be part of a spectrum asperger syndrome rett syndrome and childhood disintegrative disorder cdd the first three of these disorders are commonly called the autism spectrum disorders the last two disorders are much rarer and are sometimes placed in the autism spectrum and sometimes not the onset of pervasive developmental disorders occurs during infancy but the condition is usually not identified until the child is around three years old parents may begin to question the health of their child when developmental milestones are not met including age appropriate motor movement and speech production there is a division among doctors on the use of the term pdd many use the term pdd as a short way of saying pdd nos others use the general category label of pdd because they are hesitant to diagnose very young children with a specific type of pdd such as autism both approaches contribute to confusion about the term because the term pdd actually refers to a category of disorders and is not a diagnostic label
autism
autism is a neurodevelopmental disorder characterized by impaired social interaction verbal and non verbal communication and restricted and repetitive behavior parents usually notice signs in the first two years of their child s life these signs often develop gradually though some children with autism reach their developmental milestones at a normal pace and then regress the diagnostic criteria require that symptoms become apparent in early childhood typically before age three
autism is a neurodevelopmental disorder characterized by impaired social interaction verbal and non verbal communication and restricted and repetitive behavior parents usually notice signs in the first two years of their child s life these signs often develop gradually though some children with autism reach their developmental milestones at a normal pace and then regress the diagnostic criteria require that symptoms become apparent in early childhood typically before age three while autism is highly heritable researchers suspect both environmental and genetic factors as causes in rare cases autism is strongly associated with agents that cause birth defects controversies surround other proposed environmental causes for example the vaccine hypotheses which have since been disproven autism affects information processing in the brain by altering how nerve cells and their synapses connect and organize how this occurs is not well understood in the dsm v it is one of three recognized disorders in the autism spectrum asds the other two being asperger syndrome which lacks delays in cognitive development and language and pervasive developmental disorder not otherwise specified commonly abbreviated as pdd nos which is diagnosed when the full set of criteria for autism or asperger syndrome are not met early speech or behavioral interventions can help children with autism gain self care social and communication skills although there is no known cure there have been reported cases of children who recovered not many children with autism live independently after reaching adulthood though some become successful an autistic culture has developed with some individuals seeking a cure and others believing autism should be accepted as a difference and not treated as a disorder globally autism is estimated to affect 21 7 million people as of 2013 as of 2010 the number of people affected is estimated at about 1 – 2 per 1 000 worldwide it occurs four to five times more often in boys than girls about 1 5 of children in the united states one in 68 are diagnosed with asd as of 2014 a 30 increase from one in 88 in 2012 the rate of autism among adults aged 18 years and over in the united kingdom is 1 1 the number of people diagnosed has been increasing dramatically since the 1980 s partly due to changes in diagnostic practice and government subsidized financial incentives for named diagnoses the question of whether actual rates have increased is unresolved
rett syndrome
rett syndrome rtt originally termed cerebroatrophic hyperammonemia is a rare genetic postnatal neurological disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients the clinical features include small hands and feet and a deceleration of the rate of head growth including microcephaly in some repetitive stereotyped hand movements such as wringing and or repeatedly putting hands into the mouth are also noted
rett syndrome rtt originally termed cerebroatrophic hyperammonemia is a rare genetic postnatal neurological disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients the clinical features include small hands and feet and a deceleration of the rate of head growth including microcephaly in some repetitive stereotyped hand movements such as wringing and or repeatedly putting hands into the mouth are also noted people with rett syndrome are prone to gastrointestinal disorders and up to 80 have seizures they typically have no verbal skills and about 50 of affected individuals do not walk scoliosis growth failure and constipation are very common and can be problematic the signs of this disorder are most easily confused with those of angelman syndrome cerebral palsy and autism rett syndrome occurs in approximately 1 10 000 live female births in all geographies and across all races and ethnicities rett syndrome was formerly classified as a pervasive developmental disorder by the diagnostic and statistical manual of mental disorders dsm together with the autism spectrum disorders and childhood disintegrative disorder some argued against this classification because rtt is similar to non autistic spectrum disorders such as fragile x syndrome tuberous sclerosis or down syndrome where one can see autistic features it was removed from the dsm 5 in 2013 because it has a known molecular etiology it was first described by austrian pediatrician andreas rett in 1966 huda zoghbi demonstrated in 1999 that rett syndrome is caused by mutations in the gene mecp 2
childhood disintegrative disorder
the childhood disintegrative disorder cdd also known as heller s syndrome and disintegrative psychosis is a rare condition characterized by late onset of developmental delays — or stunning reversals — in language social function and motor skills researchers have not been successful in finding a cause for the disorder cdd has some similarity to autism and is sometimes considered a low functioning form of it in may 2013 the term cdd along with other types of autism was fused into a single diagnostic term called autism spectrum disorder under the new dsm 5 manual therefore cdd is now also called regressive autism being that this term can now refer to any type of autism spectrum disorder that involves regression including cdd
asperger syndrome
asperger syndrome as also known as asperger s is a developmental disorder characterized by significant difficulties in social interaction and nonverbal communication along with restricted and repetitive patterns of behavior and interests as a milder autism spectrum disorder asd it differs from other asds by relatively normal language and intelligence although not required for diagnosis physical clumsiness and unusual use of language are common symptoms usually begin before two years old and typically last for a person s entire life
asperger syndrome as also known as asperger s is a developmental disorder characterized by significant difficulties in social interaction and nonverbal communication along with restricted and repetitive patterns of behavior and interests as a milder autism spectrum disorder asd it differs from other asds by relatively normal language and intelligence although not required for diagnosis physical clumsiness and unusual use of language are common symptoms usually begin before two years old and typically last for a person s entire life the exact cause of asperger s is unknown while it is likely partly inherited the underlying genetics have not been determined conclusively environmental factors are also believed to play a role brain imaging has not identified a common underlying problem the diagnosis of asperger s was removed in the 2013 fifth edition of the diagnostic and statistical manual of mental disorders dsm 5 and people with these symptoms are now included within the autism spectrum disorder along with autism and pervasive developmental disorder not otherwise specified it remains within the tenth edition of the international classification of diseases icd 10 as of 2015 there is no single treatment and the effectiveness of particular interventions is supported by only limited data treatment is aimed at improving poor communication skills obsessive or repetitive routines and physical clumsiness interventions may include social skills training cognitive behavioral therapy physical therapy speech therapy parent training and medications for associated problems such as mood or anxiety most children improve as they grow up but social and communication difficulties usually persist some researchers and people on the autism spectrum have advocated a shift in attitudes toward the view that autism spectrum disorder is a difference rather than a disease that must be treated or cured in 2013 asperger s was estimated to affect 31 million people globally the syndrome is named after the austrian pediatrician hans asperger who in 1944 described children in his practice who lacked nonverbal communication had limited understanding of others feelings and were physically clumsy the modern conception of asperger syndrome came into existence in 1981 and went through a period of popularization it became a standardized diagnosis in the early 1990 s many questions and controversies remain about aspects of the disorder there is doubt about whether it is distinct from high functioning autism hfa partly because of this the percentage of people affected is not firmly established
adult attention deficit hyperactivity disorder
adult attention deficit hyperactivity disorder also referred to as adult adhd or simply adhd in adults formerly aadd is the neurobiological condition of attention deficit hyperactivity disorder adhd in adults about one third to two thirds of children with symptoms from early childhood continue to demonstrate notable adhd symptoms throughout life three subtypes of adhd are identified in the dsm 5 as predominantly inattentive adhd pi predominantly hyperactive adhd ph combined type adhd c
adult attention deficit hyperactivity disorder also referred to as adult adhd or simply adhd in adults formerly aadd is the neurobiological condition of attention deficit hyperactivity disorder adhd in adults about one third to two thirds of children with symptoms from early childhood continue to demonstrate notable adhd symptoms throughout life three subtypes of adhd are identified in the dsm 5 as predominantly inattentive adhd pi predominantly hyperactive adhd ph combined type adhd c in later life the hyperactive impulsive subtype manifests less frequently the hyperactivity symptoms tend to turn more into inner restlessness starting in adolescence and carrying on in adulthood adult adhd is typically marked by inattentiveness difficulty getting work done procrastination and organizational problems specifically adults with adhd present with persistent difficulties in following directions remembering information concentrating organizing tasks completing work within specified time frames and appearing timely in appointments these difficulties affect several different areas of an adhd adult s life causing emotional social vocational marital legal financial and or academic problems as a result low self esteem is commonly developed however given the right guidance and coaching these traits of adhd could also lead to career success diagnosis of the condition follows after one or several assessment interviews by a clinician including examination of personal history observational evidence from family members or close friends academic reports often going back to school years etc as well as evaluation to diagnose additional possible conditions which often coexist with adhd called comorbidities or comorbid disorders the condition is highly heritable and while its exact causes are not fully known genetic or environmental factors are understood to play a part adhd is a childhood onset condition usually requiring symptoms to have been present before age 12 for a diagnosis children under treatment will migrate to adult health services if necessary as they transit into adulthood however diagnosis of adults involves full examination of their history successful treatment of adhd is usually based on a combination of medication cognitive behavioral therapy and coaching or skills training medium to high intensity physical exercise improved sleep and improved and targeted nutrition are also known to have a positive effect within school and work reasonable accommodations may be put in place to help the individual work more efficiently and productively
attention deficit hyperactivity disorder
attention deficit hyperactivity disorder adhd is a mental disorder of the neurodevelopmental type it is characterized by problems paying attention excessive activity or difficulty controlling behavior which is not appropriate for a person s age these symptoms begin by age six to twelve are present for more than six months and cause problems in at least two settings such as school home or recreational activities in children problems paying attention may result in poor school performance although it causes impairment particularly in modern society many children with adhd have a good attention span for tasks they find interesting
attention deficit hyperactivity disorder adhd is a mental disorder of the neurodevelopmental type it is characterized by problems paying attention excessive activity or difficulty controlling behavior which is not appropriate for a person s age these symptoms begin by age six to twelve are present for more than six months and cause problems in at least two settings such as school home or recreational activities in children problems paying attention may result in poor school performance although it causes impairment particularly in modern society many children with adhd have a good attention span for tasks they find interesting despite being the most commonly studied and diagnosed mental disorder in children and adolescents the cause is unknown in the majority of cases the world health organization who estimated that it affected about 39 million people as of 2013 it affects about 5 – 7 of children when diagnosed via the dsm iv criteria and 1 – 2 when diagnosed via the icd 10 criteria rates are similar between countries and depend mostly on how it is diagnosed adhd is diagnosed approximately three times more often in boys than in girls about 30 – 50 of people diagnosed in childhood continue to have symptoms into adulthood and between 2 – 5 of adults have the condition the condition can be difficult to tell apart from other disorders as well as to distinguish from high levels of activity that are still within the normal range adhd management recommendations vary by country and usually involve some combination of counseling lifestyle changes and medications the british guideline only recommends medications as a first line treatment in children who have severe symptoms and for medication to be considered in those with moderate symptoms who either refuse or fail to improve with counseling though for adults medications are a first line treatment canadian and american guidelines recommend that medications and behavioral therapy be used together as a first line therapy except in preschool aged children stimulant medication therapy is not recommended as a first line therapy in preschool aged children in either guideline treatment with stimulants is effective for up to 14 months however its long term effectiveness is unclear adolescents and adults tend to develop coping skills which make up for some or all of their impairments the medical literature has described symptoms similar to adhd since the 19 th century adhd its diagnosis and its treatment have been considered controversial since the 1970 s the controversies have involved clinicians teachers policymakers parents and the media topics include adhd s causes and the use of stimulant medications in its treatment most healthcare providers accept adhd as a genuine disorder in children and adults and the debate in the scientific community mainly centers on how it is diagnosed and treated the condition was officially known as attention deficit disorder add from 1980 to 1987 while before this it was known as hyperkinetic reaction of childhood
conduct disorder
conduct disorder cd is a mental disorder diagnosed in childhood or adolescence that presents itself through a repetitive and persistent pattern of behavior in which the basic rights of others or major age appropriate norms are violated these behaviors are often referred to as antisocial behaviors it is often seen as the precursor to antisocial personality disorder which is not diagnosed until the individual is 18 years old conduct disorder is estimated to affect 51 1 million people globally as of 2013
separation anxiety disorder
separation anxiety disorder sad is a psychological condition in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment e g a parent caregiver significant other or siblings it is most common in infants and small children typically between the ages of 6 – 7 months to 3 years separation anxiety is a natural part of the developmental process unlike sad indicated by excessive anxiety normal separation anxiety indicates healthy advancements in a child ’ s cognitive maturation and should not be considered a developing behavioral problem
selective mutism
reactive attachment disorder
reactive attachment disorder rad is described in clinical literature as a severe and relatively uncommon disorder that can affect children rad is characterized by markedly disturbed and developmentally inappropriate ways of relating socially in most contexts it can take the form of a persistent failure to initiate or respond to most social interactions in a developmentally appropriate way — known as the inhibited form — or can present itself as indiscriminate sociability such as excessive familiarity with relative strangers — known as the disinhibited form the term is used in both the world health organization s international statistical classification of diseases and related health problems icd 10 and in the dsm iv tr the revised fourth edition of the american psychiatric associati
tourette syndrome
tourette syndrome ts or simply tourette s is a common neuropsychiatric disorder with onset in childhood characterized by multiple motor tics and at least one vocal phonic tic these tics characteristically wax and wane can be suppressed temporarily and are typically preceded by an unwanted urge or sensation in the affected muscles some common tics are eye blinking coughing throat clearing sniffing and facial movements tourette s does not adversely affect intelligence or life expectancy
nocturnal enuresis
nocturnal enuresis also called bedwetting is involuntary urination while asleep after the age at which bladder control usually occurs nocturnal enuresis is considered primary pne when a child has not yet had a prolonged period of being dry secondary nocturnal enuresis sne is when a child or adult begins wetting again after having stayed dry bedwetting is the most common childhood complaint most girls stay dry by age six and most boys stay dry by age seven by ten years old 95 of children are dry at night studies place adult bedwetting rates at between 0 5 and 2 3
trichophagia
trichophagia greek τριχοφαγία from τρίχα tricha “ hair ” φάγειν phagein “ to eat ” is the compulsive eating of hair associated with trichotillomania hair pulling in trichophagia people with trichotillomania also ingest the hair that they pull in extreme and rare cases this can lead to a hair ball trichobezoar
stuttering
stuttering ˈstʌtərɪŋ or stammering ˈstæmərɪŋ alalia syllabaris alalia literalis or anarthria literalis is a speech disorder in which the flow of speech is disrupted by involuntary repetitions and prolongations of sounds syllables words or phrases as well as involuntary silent pauses or blocks in which the person who stutters is unable to produce sounds the term stuttering is most commonly associated with involuntary sound repetition but it also encompasses the abnormal hesitation or pausing before speech referred to by people who stutter as blocks and the prolongation of certain sounds usually vowels or semivowels according to watkins et al stuttering is a disorder of selection initiation and execution of motor sequences necessary for fluent speech production for
stuttering ˈstʌtərɪŋ or stammering ˈstæmərɪŋ alalia syllabaris alalia literalis or anarthria literalis is a speech disorder in which the flow of speech is disrupted by involuntary repetitions and prolongations of sounds syllables words or phrases as well as involuntary silent pauses or blocks in which the person who stutters is unable to produce sounds the term stuttering is most commonly associated with involuntary sound repetition but it also encompasses the abnormal hesitation or pausing before speech referred to by people who stutter as blocks and the prolongation of certain sounds usually vowels or semivowels according to watkins et al stuttering is a disorder of selection initiation and execution of motor sequences necessary for fluent speech production for many people who stutter repetition is the primary problem the term stuttering covers a wide range of severity encompassing barely perceptible impediments that are largely cosmetic to severe symptoms that effectively prevent oral communication in the world approximately four times as many men as women stutter encompassing 70 million people worldwide or about 1 of the world s population the impact of stuttering on a person s functioning and emotional state can be severe this may include fears of having to enunciate specific vowels or consonants fears of being caught stuttering in social situations self imposed isolation anxiety stress shame being a possible target of bullying especially in children having to use word substitution and rearrange words in a sentence to hide stuttering or a feeling of loss of control during speech stuttering is sometimes popularly seen as a symptom of anxiety but there is actually no direct correlation in that direction though as mentioned the inverse can be true as social anxiety may actually develop in individuals as a result of their stuttering stuttering is generally not a problem with the physical production of speech sounds or putting thoughts into words acute nervousness and stress do not cause stuttering but they can trigger stuttering in people who have the speech disorder and living with a stigmatized disability can result in anxiety and high allostatic stress load i e chronic nervousness and stress that reduce the amount of acute stress necessary to trigger stuttering in any given person who stutters exacerbating the problem in the manner of a positive feedback system the name stuttered speech syndrome has been proposed for this condition neither acute nor chronic stress however itself creates any predisposition to stuttering the disorder is also variable which means that in certain situations such as talking on the telephone or in a large group the stuttering might be more severe or less depending on whether or not the stutterer is self conscious about their stuttering stutterers often find that their stuttering fluctuates and that they have good days bad days and stutter free days the times in which their stuttering fluctuates can be random although the exact etiology or cause of stuttering is unknown both genetics and neurophysiology are thought to contribute there are many treatments and speech therapy techniques available that may help decrease speech disfluency in some people who stutter to the point where an untrained ear cannot identify a problem however there is essentially no cure for the disorder at present the severity of the person s stuttering would correspond to the amount of speech therapy needed to decrease disfluency for severe stuttering long term therapy and hard work will be required to decrease disfluency
speech disorder
speech disorders or speech impediments are a type of communication disorder where normal speech is disrupted this can mean stuttering lisps etc someone who is unable to speak due to a speech disorder is considered mute
cluttering
nail biting
nail biting also known as onychophagy or onychophagia is an oral compulsive habit it is sometimes described as a parafunctional activity the common use of the mouth for an activity other than speaking eating or drinking
nail biting also known as onychophagy or onychophagia is an oral compulsive habit it is sometimes described as a parafunctional activity the common use of the mouth for an activity other than speaking eating or drinking nail biting is very common especially amongst children less innocent forms of nails biting are considered an impulse control disorder in the dsm iv r and is classified under obsessive compulsive and related disorders in the dsm 5 the icd 10 classifies it as other specified behavioral and emotional disorders with onset usually occurring in childhood and adolescence however not all nail biting is pathological and the difference between harmful obsession and normal behavior is not always clear
onychotillomania
onychotillomania is a compulsive neurosis in which a person picks constantly at the nails or tries to tear them off it is not the same as onychophagia where the nails are bitten or chewed or dermatillomania where skin is bitten or scratched it is commonly associated with psychiatric disorders such as depressive neurosis delusions of infestation and hypochondriasis it was named by professor jan alkiewicz a polish dermatologist the constant destruction of the nail bed leads to onychodystrophy paronychia and darkening of the nail
mental disorder
emotional disabilities redirects here for other uses see emotional disability a mental disorder also called a mental illness or psychiatric disorder is a diagnosis by a mental health professional of a behavioral or mental pattern that may cause suffering or a poor ability to function in life such features may be persistent relapsing and remitting or occur as a single episode many disorders have been described with signs and symptoms that vary widely between specific disorders
meningitis
meningitis is an acute inflammation of the protective membranes covering the brain and spinal cord known collectively as the meninges the most common symptoms are fever headache and neck stiffness other symptoms include confusion or altered consciousness vomiting and an inability to tolerate light or loud noises young children often exhibit only nonspecific symptoms such as irritability drowsiness or poor feeding if a rash is present it may indicate a particular cause of meningitis for instance meningitis caused by meningococcal bacteria may be accompanied by a characteristic rash
meningitis is an acute inflammation of the protective membranes covering the brain and spinal cord known collectively as the meninges the most common symptoms are fever headache and neck stiffness other symptoms include confusion or altered consciousness vomiting and an inability to tolerate light or loud noises young children often exhibit only nonspecific symptoms such as irritability drowsiness or poor feeding if a rash is present it may indicate a particular cause of meningitis for instance meningitis caused by meningococcal bacteria may be accompanied by a characteristic rash the inflammation may be caused by infection with viruses bacteria or other microorganisms and less commonly by certain drugs meningitis can be life threatening because of the inflammation s proximity to the brain and spinal cord therefore the condition is classified as a medical emergency a lumbar puncture diagnoses or excludes meningitis a needle is inserted into the spinal canal to collect a sample of cerebrospinal fluid csf that envelops the brain and spinal cord the csf is examined in a medical laboratory some forms of meningitis are preventable by immunization with the meningococcal mumps pneumococcal and hib vaccines giving antibiotics to people with significant exposure to certain types of meningitis may also be useful the first treatment in acute meningitis consists of promptly giving antibiotics and sometimes antiviral drugs corticosteroids can also be used to prevent complications from excessive inflammation meningitis can lead to serious long term consequences such as deafness epilepsy hydrocephalus or cognitive deficits especially if not treated quickly in 2013 meningitis occurred in about 16 million people worldwide this resulted in 303 000 deaths – down from 464 000 deaths in 1990 with appropriate treatment the risk of death in bacterial meningitis is less than 15 outbreaks of bacterial meningitis occur between december and june each year in an area of sub saharan africa known as the meningitis belt smaller outbreaks may also occur in other areas of the world the word meningitis is from greek μῆνιγξ méninx membrane and the medical suffix itis inflammation
arachnoiditis
arachnoiditis is an inflammatory condition of the arachnoid mater or arachnoid one of the membranes known as meninges that surround and protect the nerves of the central nervous system including the brain and spinal cord the arachnoid can become inflamed because of adverse reactions to chemicals infection from bacteria or viruses as the result of direct injury to the spine chronic compression of spinal nerves complications from spinal surgery or other invasive spinal procedures or the accidental intrathecal injection of steroids intended for the epidural space inflammation can sometimes lead to the formation of scar tissue and adhesion that can make the spinal nerves stick together a condition where such tissue develops in and between the leptomeninges the condition can be e
myelitis
myelitis involves the infection or the inflammation of the white matter or gray matter of the spinal cord which is a part of central nervous system that acts as a bridge between the brain and the rest of the body during an inflammatory response in the spinal cord the myelin and axon may be damaged causing symptoms such as paralysis and sensory loss myelitis is classified to several categories depending on the area or the cause of the lesion however people often refer to any inflammatory attack on the spinal cord as transverse myelitis
acute disseminated encephalomyelitis
acute disseminated encephalomyelitis adem or acute demyelinating encephalomyelitis is a rare autoimmune disease marked by a sudden widespread attack of inflammation in the brain and spinal cord as well as causing the brain and spinal cord to become inflamed adem also attacks the nerves of the central nervous system and damages their myelin insulation which as a result destroys the white matter it is often triggered after the patient has received a viral infection or perhaps exceedingly rarely specific non routine vaccinations
tropical spastic paraparesis
tropical spastic paraparesis tsp also called htlv i associated myelopathy ham or htlv i associated myelopathy tropical spastic paraparesis ham tsp is a medical condition that causes weakness muscle spasms and sensory disturbance by human t lymphotropic virus resulting in paraparesis weakness of the legs as the name suggests it is most common in tropical regions including the caribbean blood transfusion products are screened for htlv 1 antibodies as a preventive measure
rasmussen s encephalitis
rasmussen s encephalitis also known as chronic focal encephalitis cfe is a rare inflammatory neurological disease characterized by frequent and severe seizures loss of motor skills and speech hemiparesis paralysis on one side of the body encephalitis inflammation of the brain and dementia the illness affects a single cerebral hemisphere and generally occurs in children under the age of 15
bickerstaff s encephalitis
bickerstaff s encephalitis is a rare inflammatory disorder of the central nervous system first described by edwin bickerstaff in 1951 it may also affect the peripheral nervous system and has features in common with both miller fisher syndrome and guillain – barré syndrome
limbic encephalitis
limbic encephalitis is a form of encephalitis a disease characterised by inflammation of the brain limbic encephalitis is caused by autoimmunity an abnormal state where the body produces antibodies against itself some cases are associated with cancer and some are not although the disease is known as limbic encephalitis it is seldom limited to the limbic system and post mortem studies usually show involvement of other parts of the brain the disease was first described by brierley and others in 1960 as a series of three cases the link to cancer was first noted in 1968 and confirmed by later investigators
cerebral venous sinus thrombosis
cerebral venous sinus thrombosis cvst is the presence of acute thrombosis a blood clot in the dural venous sinuses which drain blood from the brain symptoms may include headache abnormal vision any of the symptoms of stroke such as weakness of the face and limbs on one side of the body and seizures the diagnosis is usually by computed tomography ct cat scan or magnetic resonance imaging mri employing radiocontrast to demonstrate obstruction of the venous sinuses by thrombus
huntington s disease
huntington s disease hd also known as huntington s chorea is an inherited disorder that results in death of brain cells the earliest symptoms are often subtle problems with mood or mental abilities a general lack of coordination and an unsteady gait often follow as the disease advances uncoordinated jerky body movements become more apparent physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk mental abilities generally decline into dementia the specific symptoms vary somewhat between people symptoms usually begin between 30 and 50 years of age but can start at any age the disease may develop earlier in life in each successive generation about 8 of cases start before the age of 20 years and typically present with
huntington s disease hd also known as huntington s chorea is an inherited disorder that results in death of brain cells the earliest symptoms are often subtle problems with mood or mental abilities a general lack of coordination and an unsteady gait often follow as the disease advances uncoordinated jerky body movements become more apparent physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk mental abilities generally decline into dementia the specific symptoms vary somewhat between people symptoms usually begin between 30 and 50 years of age but can start at any age the disease may develop earlier in life in each successive generation about 8 of cases start before the age of 20 years and typically present with symptoms more similar to parkinson s disease people with hd often underestimate the degree of their problems hd is typically inherited from a person s parents with 10 of cases due to a new mutation the disease is caused by an autosomal dominant mutation in either of an individual s two copies of a gene called huntingtin this means a child of an affected person typically has a 50 chance of inheriting the disease the huntingtin gene provides the genetic information for a protein that is also called huntingtin expansion of cag cytosine adenine guanine triplet repeats in the gene coding for the huntingtin protein results in an abnormal protein which gradually damages cells in the brain through mechanisms that are not fully understood diagnosis is by genetic testing which can occur at any point in time regardless of whether or not symptoms are present this fact raises several ethical debates the age at which an individual is considered mature enough to choose testing whether parents have the right to have their children tested and managing confidentiality and disclosure of test results there is no cure for hd full time care is required in the later stages of the disease treatments can relieve some symptoms and in some improve quality of life the best evidence for treatment of the movement problems is with tetrabenazine hd affects about 4 to 15 in 100 000 people of european descent it is rare among japanese and occurs at an unknown rate in africa the disease affects men and women equally complications such as pneumonia heart disease and physical injury from falls reduce life expectancy suicide is the cause of death in about 9 of cases death typically occurs fifteen to twenty years from when the disease was first detected the first likely description of the disease was in 1841 by charles oscar waters the condition was described in further detail in 1872 by george huntington after whom it is named the genetic basis was discovered in 1993 by an international collaborative effort led by the hereditary disease foundation research and support organizations began forming in the late 1960 s to increase public awareness to provide support for individuals and their families and to promote research current research directions include determining the exact mechanism of the disease improving animal models to aid with research testing of medications to treat symptoms or slow the progression of the disease and studying procedures such as stem cell therapy with the goal of repairing damage caused by the disease
friedreich s ataxia
friedreich s ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system it manifests in initial symptoms of poor coordination such as gait disturbance it can also lead to scoliosis heart disease and diabetes but does not affect cognitive function the disease progresses until a wheelchair is required for mobility its incidence in the general population is roughly 1 in 50 000 the condition is named after the german physician nikolaus friedreich who first described it in the 1860 s
spinocerebellar ataxia
spinocerebellar ataxia sca also known as spinocerebellar atrophy or spinocerebellar degeneration is a progressive degenerative genetic disease with multiple types each of which could be considered a disease in its own right an estimated 150 000 people in the united states have a diagnosis of spinocerebellar ataxia at any given time sca is hereditary progressive degenerative and often fatal there is no known effective treatment or cure sca can affect anyone of any age the disease is caused by either a recessive or dominant gene in many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder
behr syndrome
behr syndrome is characterized by the association of early onset optic atrophy with spinocerebellar degeneration resulting in ataxia pyramidal signs peripheral neuropathy and developmental delay although it is an autosomal recessive disorder heterozygotes may still manifest much attenuated symptoms autosomal dominant inheritance also being reported in a family recently a variant of opa 1 mutation with phenotypic presentation like behr syndrome is also described some reported cases have been found to carry mutations in the opa 1 opa 3 or c 12 orf 65 genes which are known causes of pure optic atrophy or optic atrophy complicated by movement disorder
spinocerebellar ataxia type 13
spinocerebellar ataxia type 13 sca 13 is a rare autosomal dominant disorder which like other types of sca is characterized by dysarthria nystagmus and ataxia of gait stance and the limbs due to cerebellar dysfunction patients with sca 13 also tend to present with epilepsy an inability to run and increased reflexes this cerebellar dysfunction is permanent and progressive sca 13 is caused by mutations in kcnc 3 a gene encoding a voltage gated potassium channel kv 3 3 there are two known mutations in this gene causative for sca 13 unlike many other types of sca these are not polyglutamine expansions but rather point mutations resulting in channels with no current or altered kinetics
ataxia telangiectasia
ataxia telangiectasia a t also referred to as louis – bar syndrome is a rare neurodegenerative autosomal recessive disease causing severe disability ataxia refers to poor coordination and telangiectasia to small dilated blood vessels both of which are hallmarks of the disease a t affects many parts of the body it impairs certain areas of the brain including the cerebellum causing difficulty with movement and coordination it weakens the immune system causing a predisposition to infection it prevents repair of broken dna increasing the risk of cancer
telangiectasia
telangiectasias tɛlˌæn dʒiː ɛkˈteɪ zi ə sometimes called t langiatasis also known as spider veins or angioectasias are small dilated blood vessels near the surface of the skin or mucous membranes measuring between 0 5 and 1 millimeter in diameter many patients who suffer with spider veins seek the assistance of physicians who specialize in vein care or peripheral vascular disease these physicians are called vascular surgeons or phlebologists more recently interventional radiologists have started treating venous problems
hereditary spastic paraplegia
hereditary spastic paraplegia hsp also known as hereditary spastic paraparesis familial spastic paraplegias french settlement disease or strumpell lorrain disease is a group of inherited diseases whose main feature is progressive stiffness and contraction spasticity in the lower limbs as a result of damage to or dysfunction of the nerves hereditary spastic paraplegia was first described in 1883 by adolph strümpell a german neurologist and was later described more extensively in 1888 by maurice lorrain a french physician
hereditary spastic paraplegia hsp also known as hereditary spastic paraparesis familial spastic paraplegias french settlement disease or strumpell lorrain disease is a group of inherited diseases whose main feature is progressive stiffness and contraction spasticity in the lower limbs as a result of damage to or dysfunction of the nerves hsp is not a form of cerebral palsy even though it physically may appear and behave much the same as for example spastic diplegia the origins of hsp are entirely separate phenomena from cerebral palsy despite this some of the same anti spasticity medications used in spastic cerebral palsy are sometimes used to try to treat hsp symptomatology the condition sometimes also affects the optic nerve and retina of the eye causes cataracts ataxia lack of muscle coordination epilepsy cognitive impairment peripheral neuropathy and deafness hsp is caused by defects in the mechanisms that transport proteins and other substances through the cell long nerves are affected because they have to transport cellular material through long distances and are particularly sensitive to defects of cellular transport hereditary spastic paraplegia was first described in 1883 by adolph strümpell a german neurologist and was later described more extensively in 1888 by maurice lorrain a french physician
spinal muscular atrophy
spinal muscular atrophy sma also called autosomal recessive proximal spinal muscular atrophy in order to distinguish it from other conditions with similar name – is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting often leading to early death spinal muscular atrophy is an inherited disorder and is passed on in an autosomal recessive manner as of 2016 no drugs for sma have been approved even as a number of therapeutics remain in late stage clinical trials
spinal muscular atrophy sma also called autosomal recessive proximal spinal muscular atrophy in order to distinguish it from other conditions with similar name – is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting often leading to early death the disorder is caused by a genetic defect in the smn 1 gene which encodes smn a protein widely expressed in all eukaryotic cells and necessary for survival of motor neurons lower levels of the protein results in loss of function of neuronal cells in the anterior horn of the spinal cord and subsequent system wide muscle wasting atrophy spinal muscular atrophy manifests in various degrees of severity which all have in common progressive muscle wasting and mobility impairment proximal muscles and lung muscles are affected first other body systems may be affected as well particularly in early onset forms of the disorder sma is the most common genetic cause of infant death spinal muscular atrophy is an inherited disorder and is passed on in an autosomal recessive manner as of 2016 no drugs for sma have been approved even as a number of therapeutics remain in late stage clinical trials
fazio – londe disease
spinal and bulbar muscular atrophy
spinal and bulbar muscular atrophy sbma also known as spinobulbar muscular atrophy bulbo spinal atrophy x linked bulbospinal neuropathy xbsn x linked spinal muscular atrophy type 1 smax 1 kennedy s disease kd and many other names is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord this condition is rare with an estimated incidence of 1 40 000 males although this condition is not normally fatal eventually 20 of those affected may need a wheelchair
amyotrophic lateral sclerosis
amyotrophic lateral sclerosis als also known as lou gehrig s disease and motor neurone disease mnd is a specific disease that causes the death of neurons which control voluntary muscles some also use the term motor neuron disease for a group of conditions of which als is the most common als is characterized by stiff muscles muscle twitching and gradually worsening weakness due to muscles decreasing in size this results in difficulty in speaking swallowing and eventually breathing
parkinson s disease
parkinson s disease pd is a long term disorder of the central nervous system that mainly affects the motor system the symptoms generally come on slowly over time early in the disease the most obvious are shaking rigidity slowness of movement and difficulty with walking thinking and behavioral problems may also occur dementia becomes common in the advanced stages of the disease depression and anxiety are also common occurring in more than a third of people with pd other symptoms include sensory sleep and emotional problems the main motor symptoms are collectively called parkinsonism or a parkinsonian syndrome
parkinson s disease pd is a long term disorder of the central nervous system that mainly affects the motor system the symptoms generally come on slowly over time early in the disease the most obvious are shaking rigidity slowness of movement and difficulty with walking thinking and behavioral problems may also occur dementia becomes common in the advanced stages of the disease depression and anxiety are also common occurring in more than a third of people with pd other symptoms include sensory sleep and emotional problems the main motor symptoms are collectively called parkinsonism or a parkinsonian syndrome the cause of parkinson s disease is generally unknown but believed to involve both genetic and environmental factors those with a family member affected are more likely to get the disease themselves there is also an increased risk in people exposed to certain pesticides and among those who have had prior head injuries while there is a reduced risk in tobacco smokers and those who drink coffee or tea the motor symptoms of the disease result from the death of cells in the substantia nigra a region of the midbrain this results in not enough dopamine in these areas the reason for this cell death is poorly understood but involves the build up of proteins into lewy bodies in the neurons diagnosis of typical cases is mainly based on symptoms with tests such as neuroimaging being used to rule out other diseases there is no cure for parkinson s disease initial treatments is typically with the antiparkinson medication levodopa with dopamine agonists being used once levodopa becomes less effective as the disease progresses and neurons continue to be lost these medications become less effective while at the same time they produce a complication marked by involuntary writhing movements diet and some forms of rehabilitation have shown some effectiveness at improving symptoms surgery to place the microelectrodes for deep brain stimulation has been used to reduce motor symptoms in severe cases where drugs are ineffective evidence for treatments for the non movement related symptoms of pd such as sleep disturbances and emotional problems is less strong in 2013 pd was present in 53 million people and resulted in about 103 000 deaths globally parkinson s disease typically occurs in people over the age of 60 of which about one percent are affected males are more often affected than females when it is seen in people before the age of 40 or 50 it is called young onset pd the average life expectancy following diagnosis is between 7 and 14 years the disease is named after the english doctor james parkinson who published the first detailed description in an essay on the shaking palsy in 1817 public awareness campaigns include world parkinson s day on the birthday of james parkinson 11 april and the use of a red tulip as the symbol of the disease people with parkinsonism who have increased the public s awareness of the condition include actor michael j fox olympic cyclist davis phinney and late professional boxer muhammad ali
neuroleptic malignant syndrome
neuroleptic malignant syndrome nms is a life threatening neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs nms typically consists of muscle rigidity fever autonomic instability and cognitive changes such as delirium and is associated with elevated plasma creatine phosphokinase the incidence of neuroleptic malignant syndrome has decreased since it was first described due to changes in prescribing habits but nms is still a potential danger to patients being treated with antipsychotic medication because of the unpredictability of nms treatment may vary substantially but is generally based on supportive care and removal of the offending antipsychotic drug
akathisia
akathisia is a movement disorder characterized by a feeling of inner restlessness and a compelling need to be in constant motion as well as by actions such as rocking while standing or sitting lifting the feet as if marching on the spot and crossing and uncrossing the legs while sitting people with akathisia are unable to sit or keep still complain of restlessness fidget rock from foot to foot and pace the term was coined by the czech neuropsychiatrist ladislav haskovec 1866 – 1944 who described the phenomenon in 1901
pantothenate kinase associated neurodegeneration
pantothenate kinase associated neurodegeneration pkan also known as neurodegeneration with brain iron accumulation 1 nbia 1 and formerly called hallervorden – spatz syndrome use of this eponym is somewhat discouraged due to hallervorden and spatz s affiliation with the nazi regime and the ethically questionable manner in which they acted is a degenerative disease of the brain that can lead to parkinsonism dystonia dementia and ultimately death neurodegeneration in pkan is accompanied by an excess of iron that progressively builds up in the brain
progressive supranuclear palsy
progressive supranuclear palsy psp or the steele richardson olszewski syndrome after the physicians who described it in 1963 is a degenerative disease involving the gradual deterioration and death of specific volumes of the brain males and females are affected approximately equally and there is no racial geographical or occupational predilection approximately 6 people per 100 000 population have psp it has been described as a tauopathy
fahr s syndrome
idiopathic basal ganglia calcification also known as fahr disease is a rare genetically dominant inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement through the use of ct scans calcifications are seen primarily in the basal ganglia and in other areas such as the cerebral cortex
olivopontocerebellar atrophy
olivopontocerebellar atrophy opca is the degeneration of neurons in specific areas of the brain – the cerebellum pons and inferior olives opca is present in several neurodegenerative syndromes including inherited and non inherited forms of ataxia such as the hereditary spinocerebellar ataxia known as machado – joseph disease and multiple system atrophy msa with which it is primarily associated the term was originally coined by joseph jules dejerine and andré thomas
tardive dyskinesia
tardive dyskinesia td is a difficult to treat and often incurable form of dyskinesia a disorder resulting in involuntary repetitive body movements in this form of dyskinesia the involuntary movements are tardive meaning they have a slow or belated onset this neurological disorder by definition most frequently occurs as the result of long term usually at least 3 months duration or high dose use of antipsychotic drugs or in children and infants as a side effect from usage of drugs for gastrointestinal disorders
torsion dystonia
torsion dystonia also known as dystonia musculorum deformans is a disease characterized by painful muscle contractions resulting in uncontrollable distortions this specific type of dystonia is frequently found in children with symptoms starting around the ages of 11 or 12 it commonly begins with contractions in one general area such as an arm or a leg that continue to progress throughout the rest of the body it takes roughly 5 years for the symptoms to completely progress to a debilitating state
dopamine responsive dystonia
dopamine responsive dystonia drd also known as hereditary progressive dystonia with diurnal fluctuation segawa s disease or segawa s dystonia is a genetic movement disorder which usually manifests itself during early childhood at around ages 5 – 8 years variable start age
meige s syndrome
meige s syndrome is a type of dystonia it is also known as brueghel s syndrome and oral facial dystonia it is actually a combination of two forms of dystonia blepharospasm and oromandibular dystonia omd
blepharospasm
blepharospasm is any abnormal contraction or twitch of the eyelid in most cases symptoms last for a few days then disappear without treatment but sometimes the twitching is chronic and persistent causing lifelong challenges in those rare cases the symptoms are often severe enough to result in functional blindness the person s eyelids feel like they are clamping shut and will not open without great effort people have normal eyes but for periods of time are effectively blind due to their inability to open their eyelids in contrast the reflex blepharospasm is due to any pain in and around the eye
dystonia
dystonia is a neurological movement disorder syndrome in which sustained or repetitive muscle contractions result in twisting and repetitive movements or abnormal fixed postures the movements may resemble a tremor dystonia is often intensified or exacerbated by physical activity and symptoms may progress into adjacent muscles
myoclonus
myoclonus is a brief involuntary twitching of a muscle or a group of muscles it describes a medical sign and generally is not a diagnosis of a disease these myoclonic twitches jerks or seizures are usually caused by sudden muscle contractions positive myoclonus or brief lapses of contraction negative myoclonus the most common circumstance under which they occur is while falling asleep hypnic jerk myoclonic jerks occur in healthy persons and are experienced occasionally by everyone however when they appear with more persistence and become more widespread they can be a sign of various neurological disorders hiccups are a kind of myoclonic jerk specifically affecting the diaphragm when a spasm is caused by another person it is known as a provoked spasm shuddering attacks i
myoclonus is a brief involuntary twitching of a muscle or a group of muscles it describes a medical sign and generally is not a diagnosis of a disease these myoclonic twitches jerks or seizures are usually caused by sudden muscle contractions positive myoclonus or brief lapses of contraction negative myoclonus the most common circumstance under which they occur is while falling asleep hypnic jerk myoclonic jerks occur in healthy persons and are experienced occasionally by everyone however when they appear with more persistence and become more widespread they can be a sign of various neurological disorders hiccups are a kind of myoclonic jerk specifically affecting the diaphragm when a spasm is caused by another person it is known as a provoked spasm shuddering attacks in babies fall in this category myoclonic jerks may occur alone or in sequence in a pattern or without pattern they may occur infrequently or many times each minute most often myoclonus is one of several signs in a wide variety of nervous system disorders such as multiple sclerosis parkinson s disease dystonia alzheimer s disease gaucher s disease subacute sclerosing panencephalitis creutzfeldt – jakob disease cjd serotonin toxicity some cases of huntington s disease some forms of epilepsy and occasionally in intracranial hypotension some researchers indicate that jerks persistently may even cause early tremors in almost all instances in which myoclonus is caused by central nervous system disease it is preceded by other symptoms for instance in cjd it is generally a late stage clinical feature that appears after the patient has already started to exhibit gross neurological deficits anatomically myoclonus may originate from lesions of the cortex subcortex or spinal cord the presence of myoclonus above the foramen magnum effectively excludes spinal myoclonus further localisation relies on further investigation with electromyography emg and electroencephalography eeg
chorea
chorea or choreia occasionally is an abnormal involuntary movement disorder one of a group of neurological disorders called dyskinesias the term chorea is derived from the greek word χορεία dance see choreia as the quick movements of the feet or hands are comparable to dancing the term hemichorea refers to chorea of one side of the body such as chorea of one arm but not both analogous to hemiballismus
restless legs syndrome
restless legs syndrome rls is a disorder that causes a strong urge to move one s legs there is often an unpleasant feeling in the legs that improves somewhat with moving them occasionally the arms may also be affected the feelings generally happen when at rest and therefore can make it hard to sleep due to the disturbance in sleep people with rls may have daytime sleepiness low energy irritability and a depressed mood additionally many have limb twitching during sleep
restless legs syndrome rls is a disorder that causes a strong urge to move one s legs there is often an unpleasant feeling in the legs that improves somewhat with moving them occasionally the arms may also be affected the feelings generally happen when at rest and therefore can make it hard to sleep due to the disturbance in sleep people with rls may have daytime sleepiness low energy irritability and a depressed mood additionally many have limb twitching during sleep risk factors for rls include low iron levels kidney failure parkinson disease diabetes rheumatoid arthritis and pregnancy a number of medications may also trigger the disorder including antidepressants antipsychotics antihistamines and calcium channel blockers there are two main types one is early onset rls which starts before age 45 runs in families and worsens over time the other is late onset rls which begins after age 45 starts suddenly and does not worsen diagnosis is generally based on a person s symptoms after ruling out other potential causes restless leg syndrome may resolve if the underlying problem is addressed otherwise treatment includes lifestyle changes and medication lifestyle changes that may help include stopping alcohol and tobacco and sleep hygiene medications used include levodopa or a dopamine agonist such as pramipexole rls affects an estimated 2 5 – 15 of the american population females are more commonly affected than males and it becomes more common with age
stiff person syndrome
stiff person syndrome sps also known as stiff man syndrome sms is a rare neurologic disorder of unclear etiology characterized by progressive rigidity and stiffness the stiffness primarily affects the truncal muscles and is superimposed by spasms resulting in postural deformities chronic pain impaired mobility and lumbar hyperlordosis are common symptoms
hyperekplexia
hyperekplexia exaggerated surprise is a neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia the hypertonia may be predominantly truncal attenuated during sleep and less prominent after a year of age classic hyperekplexia is caused by genetic mutations in a number of different genes all of which play an important role in glycine neurotransmission glycine is used by the central nervous system as an inhibitory neurotransmitter hyperekplexia is generally classified as a genetic disease but some disorders can mimic the exaggerated startle of hyperekplexia
alzheimer s disease
alzheimer s disease ad also known as just alzheimer s is a chronic neurodegenerative disease that usually starts slowly and gets worse over time it is the cause of 60 to 70 of cases of dementia the most common early symptom is difficulty in remembering recent events short term memory loss as the disease advances symptoms can include problems with language disorientation including easily getting lost mood swings loss of motivation not managing self care and behavioural issues as a person s condition declines they often withdraw from family and society gradually bodily functions are lost ultimately leading to death although the speed of progression can vary the average life expectancy following diagnosis is three to nine years
alzheimer s disease ad also known as just alzheimer s is a chronic neurodegenerative disease that usually starts slowly and gets worse over time it is the cause of 60 to 70 of cases of dementia the most common early symptom is difficulty in remembering recent events short term memory loss as the disease advances symptoms can include problems with language disorientation including easily getting lost mood swings loss of motivation not managing self care and behavioural issues as a person s condition declines they often withdraw from family and society gradually bodily functions are lost ultimately leading to death although the speed of progression can vary the average life expectancy following diagnosis is three to nine years the cause of alzheimer s disease is poorly understood about 70 of the risk is believed to be genetic with many genes usually involved other risk factors include a history of head injuries depression or hypertension the disease process is associated with plaques and tangles in the brain a probable diagnosis is based on the history of the illness and cognitive testing with medical imaging and blood tests to rule out other possible causes initial symptoms are often mistaken for normal ageing examination of brain tissue is needed for a definite diagnosis mental and physical exercise and avoiding obesity may decrease the risk of ad there are no medications or supplements that decrease risk no treatments stop or reverse its progression though some may temporarily improve symptoms affected people increasingly rely on others for assistance often placing a burden on the caregiver the pressures can include social psychological physical and economic elements exercise programmes are beneficial with respect to activities of daily living and can potentially improve outcomes treatment of behavioural problems or psychosis due to dementia with antipsychotics is common but not usually recommended due to there often being little benefit and an increased risk of early death in 2015 there were approximately 48 million people worldwide with ad it most often begins in people over 65 years of age although 4 to 5 of cases are early onset alzheimer s which begin before this it affects about 6 of people 65 years and older in 2010 dementia resulted in about 486 000 deaths it was first described by and later named after german psychiatrist and pathologist alois alzheimer in 1906 in developed countries ad is one of the most financially costly diseases
neurodegeneration
neurodegeneration is the umbrella term for the progressive loss of structure or function of neurons including death of neurons many neurodegenerative diseases including amyotrophic lateral sclerosis parkinson s alzheimer s and huntington s occur as a result of neurodegenerative processes such diseases are incurable resulting in progressive degeneration and or death of neuron cells as research progresses many similarities appear that relate these diseases to one another on a sub cellular level discovering these similarities offers hope for therapeutic advances that could ameliorate many diseases simultaneously there are many parallels between different neurodegenerative disorders including atypical protein assemblies as well as induced cell death neurodegeneration can be found i
neurodegeneration is the umbrella term for the progressive loss of structure or function of neurons including death of neurons many neurodegenerative diseases including amyotrophic lateral sclerosis parkinson s alzheimer s and huntington s occur as a result of neurodegenerative processes such diseases are incurable resulting in progressive degeneration and or death of neuron cells as research progresses many similarities appear that relate these diseases to one another on a sub cellular level discovering these similarities offers hope for therapeutic advances that could ameliorate many diseases simultaneously there are many parallels between different neurodegenerative disorders including atypical protein assemblies as well as induced cell death neurodegeneration can be found in many different levels of neuronal circuitry ranging from molecular to systemic
pick s disease
pick s disease a type of frontotemporal dementia is a rare neurodegenerative disease that causes progressive destruction of nerve cells in the brain symptoms include dementia and loss of language aphasia while some of the symptoms can initially be alleviated the disease progresses and patients often die within two to ten years a defining characteristic of the disease is build up of tau proteins in neurons accumulating into silver staining spherical aggregations known as pick bodies
pick s disease a type of frontotemporal dementia is a rare neurodegenerative disease that causes progressive destruction of nerve cells in the brain symptoms include dementia and loss of language aphasia while some of the symptoms can initially be alleviated the disease progresses and patients often die within two to ten years a defining characteristic of the disease is build up of tau proteins in neurons accumulating into silver staining spherical aggregations known as pick bodies while the term pick s disease was once used to represent a class of clinical syndromes with symptoms attributable to frontal and temporal lobe dysfunction it is now used among professionals to mean a specific pathology that is one of the causes of frontotemporal lobar degeneration some people use the term pick s disease to mean the more general clinical syndrome of frontotemporal lobar degeneration but this has previously led to confusion among professionals and patients and so its use should be restricted to the specific pathological subtype described below it is also known as pick disease and pid not to be confused with pelvic inflammatory disease pid or parkinson s disease pd
dementia with lewy bodies
dementia with lewy bodies dlb is a type of dementia that gradually worsens over time additional symptoms may include fluctuations in alertness seeing things that other people do not slowness of movement trouble walking and rigidity excessive movement during sleep and mood changes such as depression are also common
leigh disease
leigh disease is a rare inherited neurometabolic disorder that affects the central nervous system it is named after archibald denis leigh a british neuropsychiatrist who first described the condition in 1951
aicardi – goutières syndrome
aicardi – goutières syndrome ags which is completely distinct from the similarly named aicardi syndrome is a rare usually early onset childhood inflammatory disorder most typically affecting the brain and the skin neurodevelopmental disorder the majority of affected individuals experience significant intellectual and physical problems although this is not always the case the clinical features of ags can mimic those of in utero acquired infection and some characteristics of the condition also overlap with the autoimmune disease systemic lupus erythematosus sle following an original description of eight cases in 1984 the condition was first referred to as aicardi – goutières syndrome ags in 1992 and the first international meeting on ags was held in pavia italy in 2001
aicardi – goutières syndrome ags which is completely distinct from the similarly named aicardi syndrome is a rare usually early onset childhood inflammatory disorder most typically affecting the brain and the skin neurodevelopmental disorder the majority of affected individuals experience significant intellectual and physical problems although this is not always the case the clinical features of ags can mimic those of in utero acquired infection and some characteristics of the condition also overlap with the autoimmune disease systemic lupus erythematosus sle following an original description of eight cases in 1984 the condition was first referred to as aicardi – goutières syndrome ags in 1992 and the first international meeting on ags was held in pavia italy in 2001 ags can occur due to mutations in any one of a number of different genes of which seven have been identified to date namely trex 1 rnaseh 2 a rnaseh 2 b rnaseh 2 c which together encode for the ribonuclease h 2 enzyme complex samhd 1 adar 1 and ifih 1 coding for mda 5 this neurological disease occurs in all populations worldwide although it is almost certainly under diagnosed to date 2014 at least 400 cases of ags are known
alpers disease
merrf syndrome
subacute combined degeneration of spinal cord
subacute combined degeneration of spinal cord also known as lichtheim s disease refers to degeneration of the posterior and lateral columns of the spinal cord as a result of vitamin b 12 deficiency most common vitamin e deficiency and copper deficiency it is usually associated with pernicious anemia
multiple sclerosis
multiple sclerosis ms is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged this damage disrupts the ability of parts of the nervous system to communicate resulting in a range of signs and symptoms including physical mental and sometimes psychiatric problems specific symptoms can include double vision blindness in one eye muscle weakness trouble with sensation or trouble with coordination ms takes several forms with new symptoms either occurring in isolated attacks relapsing forms or building up over time progressive forms between attacks symptoms may disappear completely however permanent neurological problems often remain especially as the disease advances
multiple sclerosis ms is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged this damage disrupts the ability of parts of the nervous system to communicate resulting in a range of signs and symptoms including physical mental and sometimes psychiatric problems specific symptoms can include double vision blindness in one eye muscle weakness trouble with sensation or trouble with coordination ms takes several forms with new symptoms either occurring in isolated attacks relapsing forms or building up over time progressive forms between attacks symptoms may disappear completely however permanent neurological problems often remain especially as the disease advances while the cause is not clear the underlying mechanism is thought to be either destruction by the immune system or failure of the myelin producing cells proposed causes for this include genetics and environmental factors such as being triggered by a viral infection ms is usually diagnosed based on the presenting signs and symptoms and the results of supporting medical tests there is no known cure for multiple sclerosis treatments attempt to improve function after an attack and prevent new attacks medications used to treat ms while modestly effective can have side effects and be poorly tolerated physical therapy can help with people s ability to function many people pursue alternative treatments despite a lack of evidence the long term outcome is difficult to predict with good outcomes more often seen in women those who develop the disease early in life those with a relapsing course and those who initially experienced few attacks life expectancy is on average 5 to 10 years lower than that of an unaffected population multiple sclerosis is the most common autoimmune disorder affecting the central nervous system in 2013 about 2 3 million people were affected globally with rates varying widely in different regions and among different populations that year about 20 000 people died from ms up from 12 000 in 1990 the disease usually begins between the ages of 20 and 50 and is twice as common in women as in men ms was first described in 1868 by jean martin charcot the name multiple sclerosis refers to the numerous scars sclerae — better known as plaques or lesions that develop on the white matter of the brain and spinal cord a number of new treatments and diagnostic methods are under development
demyelinating disease
a demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged this damage impairs the conduction of signals in the affected nerves in turn the reduction in conduction ability causes deficiency in sensation movement cognition or other functions depending on which nerves are involved some demyelinating diseases are caused by genetics some by infectious agents some by autoimmune reactions some by exposure to chemical agents and some by unknown factors vitamin b 12 deficiency can cause demyelination
a demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged this damage impairs the conduction of signals in the affected nerves in turn the reduction in conduction ability causes deficiency in sensation movement cognition or other functions depending on which nerves are involved some demyelinating diseases are caused by genetics some by infectious agents some by autoimmune reactions and some by unknown factors organophosphates a class of chemicals which are the active ingredients in commercial insecticides such as sheep dip weed killers and flea treatment preparations for pets etc will also demyelinate nerves neuroleptics can also cause demyelination demyelinating diseases are traditionally classified in two kinds demyelinating myelinoclastic diseases and demyelinating leukodystrophic diseases in the first group a normal and healthy myelin is destroyed by a toxic chemical or autoimmune substance in the second group myelin is abnormal and degenerates the second group was denominated dysmyelinating diseases by poser in the most known example multiple sclerosis there is good evidence that the body s own immune system is at least partially responsible acquired immune system cells called t cells are known to be present at the site of lesions other immune system cells called macrophages and possibly mast cells as well also contribute to the damage some demyelinating diseases are caused by genetics some by infectious agents some by autoimmune reactions some by exposure to chemical agents and some by unknown factors vitamin b 12 deficiency can cause demyelination
neuromyelitis optica
neuromyelitis optica nmo also known as devic s disease or devic s syndrome is a heterogeneous condition consisting of the simultaneous inflammation and demyelination of the optic nerve optic neuritis and the spinal cord myelitis it can be monophasic or recurrent although inflammation may also affect the brain the lesions are different from those observed in the related condition multiple sclerosis spinal cord lesions lead to varying degrees of weakness or paralysis in the legs or arms loss of sensation including blindness and or bladder and bowel dysfunction
central pontine myelinolysis
central pontine myelinolysis cpm also known as osmotic demyelination syndrome or central pontine demyelination is a neurological disease caused by severe damage of the myelin sheath of nerve cells in the brainstem more precisely in the area termed the pons predominately of iatrogenic etiology it is characterized by acute paralysis dysphagia difficulty swallowing and dysarthria difficulty speaking and other neurological symptoms
central pontine myelinolysis cpm also known as osmotic demyelination syndrome or central pontine demyelination is a neurological disease caused by severe damage of the myelin sheath of nerve cells in the brainstem more precisely in the area termed the pons predominately of iatrogenic etiology it is characterized by acute paralysis dysphagia difficulty swallowing and dysarthria difficulty speaking and other neurological symptoms central pontine myelinolysis was first described by adams et al in 1958 as a clinicopathological entity the original paper described four cases with fatal outcomes and the findings on autopsy the aetiology was not known then but the authors suspected the cause to be either a toxin or a nutritional deficiency ‘ central pontine ’ indicated the site of the lesion and ‘ myelinolysis ’ was used to emphasise that myelin was affected preferentially compared to the other neuronal elements the authors intentionally avoided the term ‘ demyelination ’ to describe the condition in order to differentiate the pathology of this condition from multiple sclerosis and other neuroinflammatory disorders in which myelin loss is associated with inflammation it can also occur outside the pons the term osmotic demyelination syndrome is similar to central pontine myelinolysis but also includes areas outside the pons central pontine myelinolysis presents most commonly as a complication of treatment of patients with profound life threatening hyponatremia low sodium it occurs as a consequence of a rapid rise in serum tonicity following treatment in individuals with chronic severe hyponatremia who have made intracellular adaptations to the prevailing hypotonicity hyponatremia should be corrected at a rate of no more than 8 12 mmol l of sodium per day to prevent central pontine myelinolysis although less common it may also present in patients with a history of chronic alcoholism or other conditions related to decreased liver function in these cases the condition is often unrelated to correction of sodium or electrolyte imbalance
transverse myelitis
transverse myelitis is a neurological condition in which the spinal cord is inflamed the inflammation damages nerve fibers and causes them to lose their myelin coating leading to decreased electrical conductivity in the central nervous system transverse implies that the inflammation extends across the entire width of the spinal cord partial transverse myelitis and partial myelitis are terms used to define inflammation of the spinal cord that affects part of the width of the spinal cord
balo concentric sclerosis
balo concentric sclerosis is a disease in which the white matter of the brain appears damaged in concentric layers leaving the axis cylinder intact it was described by joszef balo who initially named it leuko encephalitis periaxialis concentrica from the previous definition and it is currently considered one of the borderline forms of multiple sclerosis
balo concentric sclerosis is a disease in which the white matter of the brain appears damaged in concentric layers leaving the axis cylinder intact it was described by joszef balo who initially named it leuko encephalitis periaxialis concentrica from the previous definition and it is currently considered one of the borderline forms of multiple sclerosis balo concentric sclerosis is a demyelinating disease similar to standard multiple sclerosis but with the particularity that the demyelinated tissues form concentric layers scientists used to believe that the prognosis was similar to marburg multiple sclerosis but now they know that patients can survive or even have spontaneous remission and asymptomatic cases it is also common that the clinical course is primary progressive but a relapsing remitting course has been reported it seems that the course gets better with prednisone therapy although evidence of this is anecdotal and such conclusions are difficult to accept given that there are cases where patients spontaneously recover whether the patient was on steroid therapy or not
epileptic seizure
an epileptic seizure colloquially a fit is a brief episode of signs or symptoms due to abnormal excessive or synchronous neuronal activity in the brain the outward effect can vary from uncontrolled jerking movement tonic clonic seizure to as subtle as a momentary loss of awareness absence seizure diseases of the brain characterized by an enduring predisposition to generate epileptic seizures are collectively called epilepsy
an epileptic seizure colloquially a fit is a brief episode of signs or symptoms due to abnormal excessive or synchronous neuronal activity in the brain the outward effect can vary from uncontrolled jerking movement tonic clonic seizure to as subtle as a momentary loss of awareness absence seizure diseases of the brain characterized by an enduring predisposition to generate epileptic seizures are collectively called epilepsy seizures can also occur in people who do not have epilepsy for various reasons including brain trauma drug use elevated body temperature hypoglycemia low blood sugar levels and hypoxia low levels of oxygen to the brain additionally there are a number of conditions that look like epileptic seizures but are not a first seizure generally does not require long term treatment with anti seizure medications unless there is a specific problem on either electroencephalogram or brain imaging 5 – 10 of people who live to 80 years old have at least one epileptic seizure and the chance of experiencing a second seizure is between 40 and 50 about 50 of patients with an unprovoked apparent first seizure have had other minor seizures so their diagnosis is epilepsy epilepsy affects about 1 of the population currently and affected about 4 of the population at some point in time most of those affected — nearly 80 — live in developing countries
epilepsy
epilepsy is a group of neurological diseases characterized by epileptic seizures epileptic seizures are episodes that can vary from brief and nearly undetectable to long periods of vigorous shaking these episodes can result in physical injuries including occasionally broken bones in epilepsy seizures tend to recur and have no immediate underlying cause isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy people with epilepsy in some areas of the world experience stigma due to the condition
epilepsy is a group of neurological diseases characterized by epileptic seizures epileptic seizures are episodes that can vary from brief and nearly undetectable to long periods of vigorous shaking these episodes can result in physical injuries including occasionally broken bones in epilepsy seizures tend to recur and have no immediate underlying cause isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy people with epilepsy in some areas of the world experience stigma due to the condition the cause of most cases of epilepsy is unknown although some people develop epilepsy as the result of brain injury stroke brain tumors infections of the brain and birth defects known genetic mutations are directly linked to a small proportion of cases epileptic seizures are the result of excessive and abnormal nerve cell activity in the cortex of the brain the diagnosis involves ruling out other conditions that might cause similar symptoms such as fainting and determining if another cause of seizures is present such as alcohol withdrawal or electrolyte problems this may be partly done by imaging the brain and performing blood tests epilepsy can often be confirmed with an electroencephalogram eeg but a normal test does not rule out the condition epilepsy that occurs as a result of other issues may be preventable seizures are controllable with medication in about 70 of cases inexpensive options are often available in those whose seizures do not respond to medication then surgery neurostimulation or dietary changes may be considered not all cases of epilepsy are lifelong and many people improve to the point that treatment is no longer needed as of 2013 about 22 million people have epilepsy nearly 80 of cases occur in the developing world in 2013 it resulted in 116 000 deaths up from 112 000 deaths in 1990 epilepsy is more common in older people in the developed world onset of new cases occurs most frequently in babies and the elderly in the developing world onset is more common in older children and young adults due to differences in the frequency of the underlying causes about 5 – 10 of people will have an unprovoked seizure by the age of 80 and the chance of experiencing a second seizure is between 40 and 50 in many areas of the world those with epilepsy either have restrictions placed on their ability to drive or are not permitted to drive until they are free of seizures for a specific length of time the word epilepsy is from ancient greek ἐεπιλαμβάνειν to seize possess or afflict
rolandic epilepsy
benign rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes bcects is the most common epilepsy syndrome in childhood most children will outgrow the syndrome it starts around the age of 3 13 with a peak around 8 – 9 years and stops around age 14 18 hence the label benign the seizures sometimes referred to as sylvian seizures start around the central sulcus of the brain also called the centrotemporal area located around the rolandic fissure after luigi rolando
lafora disease
lafora disease also called lafora progressive myoclonic epilepsy or melf is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies known as lafora bodies within the cytoplasm of the cells of the heart liver muscle and skin in a later study lafora disease has been and is now viewed as a neurodegenerative disease since prior to the actual formation of lafora bodies there has been seen to be an impairment in the development of cerebral cortical neurons it was further concluded that lafora disease is a complex neurodegenerative disease and also a glycogen metabolism disorder
lafora disease also called lafora progressive myoclonic epilepsy or melf is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies known as lafora bodies within the cytoplasm of the cells of the heart liver muscle and skin in a later study lafora disease has been and is now viewed as a neurodegenerative disease since prior to the actual formation of lafora bodies there has been seen to be an impairment in the development of cerebral cortical neurons it was further concluded that lafora disease is a complex neurodegenerative disease and also a glycogen metabolism disorder most patients with this disease do not live past the age of twenty five and death within ten years of symptoms is usually inevitable at present there is no cure or treatment for this disease
dravet syndrome
dravet syndrome also known as severe myoclonic epilepsy of infancy smei is a type of epilepsy with seizures that are often triggered by hot temperatures or fever it often begins around six months of age
ohtahara syndrome
ohtahara syndrome os also known as early infantile epileptic encephalopathy with burst suppression eiee is a progressive epileptic encephalopathy the syndrome is outwardly characterized by tonic spasms and partial seizures and receives its more elaborate name from the pattern of burst activity on an electroencephalogram eeg it is an extremely debilitating progressive neurological disorder involving intractable seizures and severe mental retardation no single cause has been identified although in many cases structural brain damage is present
epileptic spasms
epileptic spasms infantile spasms juvenile spasms or west syndrome is an uncommon to rare epileptic disorder in infants children and adults it is named after the english physician william james west 1793 – 1848 who first described it in an article published in the lancet in 1841 the original case actually described his own son james edwin west 1840 – 1860 other names for it are generalized flexion epilepsy infantile epileptic encephalopathy infantile myoclonic encephalopathy jackknife convulsions massive myoclonia and salaam spasms the term infantile spasms can be used to describe the specific seizure manifestation in the syndrome but is also used as a synonym for the syndrome itself west syndrome in modern usage is the triad of infantile spasms a pathognomo
epileptic spasms infantile spasms juvenile spasms or west syndrome is an uncommon to rare epileptic disorder in infants children and adults it is named after the english physician william james west 1793 – 1848 who first described it in an article published in the lancet in 1841 the original case actually described his own son james edwin west 1840 – 1860 other names for it are generalized flexion epilepsy infantile epileptic encephalopathy infantile myoclonic encephalopathy jackknife convulsions massive myoclonia and salaam spasms the term infantile spasms can be used to describe the specific seizure manifestation in the syndrome but is also used as a synonym for the syndrome itself west syndrome in modern usage is the triad of infantile spasms a pathognomonic eeg pattern called hypsarrhythmia and developmental regression although the international definition requires only two out of these three elements the syndrome is age related generally occurring between the third and the twelfth month generally manifesting around the fifth month there are various causes polyetiology the syndrome is often caused by an organic brain dysfunction whose origins may be prenatal perinatal caused during birth or postnatal
lennox – gastaut syndrome
lennox – gastaut syndrome lgs is a difficult to treat form of childhood onset epilepsy that most often appears between the second and sixth year of life lgs is characterized by a triad of signs including frequent seizures of multiple types an abnormal eeg pattern of less than 2 5 hz slow spike wave activity and moderate to severe intellectual impairment
status epilepticus
status epilepticus se is an epileptic seizure of greater than five minutes or more than one seizure within a five minute period without the person returning to normal between them previous definitions used a 30 minute time limit the seizures can either be of the tonic – clonic type with a regular pattern of contraction and extension of the arms and legs or of types that do not involve contractions such as absence seizures or complex partial seizures status epilepticus is a life threatening medical emergency particularly if treatment is delayed
status epilepticus se is an epileptic seizure of greater than five minutes or more than one seizure within a five minute period without the person returning to normal between them previous definitions used a 30 minute time limit the seizures can either be of the tonic – clonic type with a regular pattern of contraction and extension of the arms and legs or of types that do not involve contractions such as absence seizures or complex partial seizures status epilepticus is a life threatening medical emergency particularly if treatment is delayed status epilepticus may occur in those with a history of epilepsy as well as those with an underlying problem of the brain these underlying brain problems may include trauma infections or strokes among others diagnosis often involves checking the blood sugar imaging of the head a number of blood tests and an electroencephalogram psychogenic nonepileptic seizures may present similarly other conditions that may also appear to be se include low blood sugar movement disorders meningitis and delirium among others benzodiazepines are the preferred initial treatment after which typically phenytoin is given possible benzodiazepines include intravenous lorazepam as well as intramuscular injections of midazolam a number of other medications may be used if these are not effective such as valproic acid phenobarbital propofol or ketamine intubation may be required to help maintain the person s airway between 10 and 30 of people who have status epilepticus die within 30 days the underlying cause the person s age and the length of the seizure are important factors in the outcome status epilepticus occurs in up to 40 per 100 000 people per year it makes up about 1 of people who visit the emergency department
migraine
migraine is a primary headache disorder characterized by recurrent headaches that are moderate to severe typically the headaches affect one half of the head are pulsating in nature and last from two to 72 hours associated symptoms may include nausea vomiting and sensitivity to light sound or smell the pain is generally made worse by physical activity up to one third of people have an aura typically a short period of visual disturbance which signals that the headache will soon occur occasionally an aura can occur with little or no headache following it
migraine is a primary headache disorder characterized by recurrent headaches that are moderate to severe typically the headaches affect one half of the head are pulsating in nature and last from two to 72 hours associated symptoms may include nausea vomiting and sensitivity to light sound or smell the pain is generally made worse by physical activity up to one third of people have an aura typically a short period of visual disturbance which signals that the headache will soon occur occasionally an aura can occur with little or no headache following it migraines are believed to be due to a mixture of environmental and genetic factors about two thirds of cases run in families changing hormone levels may also play a role as migraines affect slightly more boys than girls before puberty and two to three times more women than men the risk of migraines usually decreases during pregnancy the underlying mechanisms are not fully known it is however believed to involve the nerves and blood vessels of the brain initial recommended treatment is with simple pain medication such as ibuprofen and paracetamol acetaminophen for the headache medication for the nausea and the avoidance of triggers specific medications such as triptans or ergotamines may be used in those for whom simple pain medications are not effective caffeine may be added to the above a number of medications are useful to prevent attacks including metoprolol valproate and topiramate globally approximately 15 of people are affected by migraines it most often starts at puberty and is worst during middle age in some women they become less common following menopause an early description consistent with migraines is contained in the ebers papyrus written around 1500 bce in ancient egypt the word migraine is from the greek ἡμικρανία hemikrania pain on one side of the head from ἡμι hemi half and κρανίον kranion skull
aura symptom
an aura is a perceptual disturbance experienced by some with migraines or seizures before either the headache or seizure begins it often manifests as the perception of a strange light an unpleasant smell or confusing thoughts or experiences some people experience aura without a subsequent migraine or seizure see silent migraine auras vary by individual experience some people experience smells lights or hallucinations less known symptoms of the eye include disturbances where the eyes roll in the back of the head caused by photosensitivity a sufferer of this type of aura may experience tearfulness of the eyes and uncontrollable sensations of light followed by reduced symptoms after approximately 20 minutes it is the rarest type of aura
an aura is a perceptual disturbance experienced by some with migraines or seizures before either the headache or seizure begins it often manifests as the perception of a strange light an unpleasant smell or confusing thoughts or experiences some people experience aura without a subsequent migraine or seizure see silent migraine auras vary by individual experience some people experience smells lights or hallucinations less known symptoms of the eye include disturbances where the eyes roll in the back of the head caused by photosensitivity a sufferer of this type of aura may experience tearfulness of the eyes and uncontrollable sensations of light followed by reduced symptoms after approximately 20 minutes it is the rarest type of aura when occurring auras allow people who have epilepsy time to prevent injury to themselves and or others the time between the appearance of the aura and the migraine lasts from a few seconds up to an hour the aura can stay with a migraine sufferer for the duration of the migraine depending on the type of aura it can leave the person disoriented and confused it is not uncommon for migraine sufferers to experience more than one type of aura during the migraine most people who have auras have the same type of aura every time auras can also be confused with sudden onset of panic panic attacks or anxiety attacks creating difficulties in diagnosis the differential diagnosis of patients who experience symptoms of paresthesias derealization dizziness chest pain tremors and palpitations can be quite challenging
cluster headache
cluster headache ch is a neurological disorder characterized by recurrent severe headaches on one side of the head typically around the eye there are often accompanying autonomic symptoms during the headache such as eye watering nasal congestion and swelling around the eye typically confined to the side of the head with the pain
chronic paroxysmal hemicrania
chronic paroxysmal hemicrania cph also known as sjaastad syndrome is a severe debilitating unilateral headache usually affecting the area around the eye it normally consists of multiple severe yet short headache attacks affecting only one side of the cranium it is more commonly diagnosed in women than in men but unlike a migraine has no neurological symptoms associated with it cph headaches are treated through the use of non steroidal anti inflammatory drugs with indomethacin found to be usually effective in eliminating symptoms
chronic paroxysmal hemicrania cph also known as sjaastad syndrome is a severe debilitating unilateral headache usually affecting the area around the eye it normally consists of multiple severe yet short headache attacks affecting only one side of the cranium it is more commonly diagnosed in women than in men but unlike a migraine has no neurological symptoms associated with it cph headaches are treated through the use of non steroidal anti inflammatory drugs with indomethacin found to be usually effective in eliminating symptoms paroxysmal hemicrania is classified by the frequency and duration of attacks experienced by patients episodic paroxysmal hemicrania attacks occur at least twice a year and last anywhere from seven days to a year with pain free periods of a month or longer separating them chronic paroxysmal hemicrania attacks occur over the course of more than a year without remission or with remissions lasting less than a month
tension headache
tension headache also known as tension type headache is the most common type of primary headache the pain can radiate from the lower back of the head the neck eyes or other muscle groups in the body typically affecting both sides of the head tension type headaches account for nearly 90 of all headaches tricyclic antidepressants appear to be useful for prevention evidence is poor for ssris propranolol and muscle relaxants for the treatment of a tension headache ibuprofen is effective
tension headache also known as tension type headache is the most common type of primary headache the pain can radiate from the lower back of the head the neck eyes or other muscle groups in the body typically affecting both sides of the head tension type headaches account for nearly 90 of all headaches tricyclic antidepressants appear to be useful for prevention evidence is poor for ssris propranolol and muscle relaxants for the treatment of a tension headache ibuprofen is effective as of 2013 tension headaches affect about 1 6 billion people 20 8 of the population and are more common in women than men 23 to 18 respectively
medication overuse headache
medication overuse headache moh also known as rebound headache usually occurs when analgesics are taken frequently to relieve headaches rebound headaches frequently occur daily can be very painful and are a common cause of chronic daily headache they typically occur in patients with an underlying headache disorder such as migraine or tension type headache that transforms over time from an episodic condition to chronic daily headache due to excessive intake of acute headache relief medications moh is a serious disabling and well characterized disorder which represents a worldwide problem and is now considered the third most prevalent type of headache population based studies report the prevalence rate of moh to be 1 to 2 in the general population but its relative frequency is
hemicrania continua
hemicrania continua hc is a persistent unilateral headache that responds to indomethacin it is usually unremitting but rare cases of remission have been documented hemicrania continua is considered a primary headache disorder meaning that it is not caused by another condition
thunderclap headache
a thunderclap headache also referred to as a lone acute severe headache is a headache that is severe and sudden onset it is defined as a severe headache that takes seconds to minutes to reach maximum intensity it can be indicative of a number of medical problems most importantly subarachnoid hemorrhage which can be life threatening usually further investigations are performed to identify the underlying cause
sexual headache
ice cream headache
a brain freeze also known as ice cream headache cold stimulus headache trigeminal headache or its given scientific name sphenopalatine ganglioneuralgia meaning nerve pain of the sphenopalatine ganglion is a form of brief pain or headache commonly associated with consumption particularly quick consumption of cold beverages or foods such as ice cream and ice pops it is caused by having something cold touch the roof of the mouth palate and is believed to result from a nerve response causing rapid constriction and swelling of blood vessels or a referring of pain from the roof of the mouth to the head the rate of intake for cold foods has been studied as a contributing factor ice cream headache is distinct from dentin hypersensitivity a type of pain that can occur under simil
a brain freeze also known as ice cream headache cold stimulus headache trigeminal headache or its given scientific name sphenopalatine ganglioneuralgia meaning nerve pain of the sphenopalatine ganglion is a form of brief pain or headache commonly associated with consumption particularly quick consumption of cold beverages or foods such as ice cream and ice pops it is caused by having something cold touch the roof of the mouth palate and is believed to result from a nerve response causing rapid constriction and swelling of blood vessels or a referring of pain from the roof of the mouth to the head the rate of intake for cold foods has been studied as a contributing factor ice cream headache is distinct from dentin hypersensitivity a type of pain that can occur under similar circumstances the term ice cream headache has been in use since at least 31 january 1937 contained in a journal entry by rebecca timbres published in the 1939 book we didn t ask utopia a quaker family in soviet russia
post dural puncture headache
post dural puncture headache pdph is a complication of puncture of the dura mater one of the membranes that surround the brain and spinal cord the headache is severe and described as searing and spreading like hot metal involving the back and front of the head and spreading to the neck and shoulders sometimes involving neck stiffness it is exacerbated by movement and sitting or standing and relieved to some degree by lying down nausea vomiting pain in arms and legs hearing loss tinnitus vertigo dizziness and paraesthesia of the scalp are common
post dural puncture headache pdph is a complication of puncture of the dura mater one of the membranes that surround the brain and spinal cord the headache is severe and described as searing and spreading like hot metal involving the back and front of the head and spreading to the neck and shoulders sometimes involving neck stiffness it is exacerbated by movement and sitting or standing and relieved to some degree by lying down nausea vomiting pain in arms and legs hearing loss tinnitus vertigo dizziness and paraesthesia of the scalp are common it is a common side effect of spinal anesthesia and lumbar puncture and may occasionally accidentally occur in epidural anesthesia leakage of cerebrospinal fluid through the dura mater puncture causes reduced fluid levels in the brain and spinal cord and may lead to the development of pdph hours or days later onset occurs within two days in 66 percent and within three days in ninety percent of pdph cases it occurs so rarely immediately after puncture that other possible causes should be investigated when it does
hangover
a hangover is the experience of various unpleasant physiological and psychological effects following the consumption of ethanol as found in wine beer and distilled spirits hangovers can last for several hours or for more than 24 hours typical symptoms of a hangover may include headache drowsiness concentration problems dry mouth dizziness fatigue gastrointestinal distress e g vomiting absence of hunger sweating nausea hyper excitability and anxiety
a hangover is the experience of various unpleasant physiological and psychological effects following the consumption of ethanol as found in wine beer and distilled spirits hangovers can last for several hours or for more than 24 hours typical symptoms of a hangover may include headache drowsiness concentration problems dry mouth dizziness fatigue gastrointestinal distress e g vomiting absence of hunger sweating nausea hyper excitability and anxiety while the causes of a hangover are still poorly understood several factors are known to be involved including acetaldehyde accumulation changes in the immune system and glucose metabolism dehydration metabolic acidosis disturbed prostaglandin synthesis increased cardiac output vasodilation sleep deprivation and malnutrition beverage specific effects of additives or by products such as congeners in alcoholic beverages also play an important role the symptoms occur typically after the intoxicating effect of the alcohol begins to wear off generally the morning after a night of heavy drinking though many possible remedies and folk cures have been suggested there is no compelling evidence to suggest that any are effective for preventing or treating alcohol hangover avoiding alcohol or drinking in moderation are the most effective ways to avoid a hangover the socioeconomic consequences and health risks of alcohol hangover include workplace absenteeism impaired job performance reduced productivity and poor academic achievement a hangover may also compromise potentially dangerous daily activities such as driving a car or operating heavy machinery
tolosa – hunt syndrome
amaurosis fugax
transient global amnesia
transient global amnesia tga is a neurological disorder whose key defining characteristic is a temporary but almost total disruption of short term memory with a range of problems accessing older memories a person in a state of tga exhibits no other signs of impaired cognitive functioning but recalls only the last few moments of consciousness as well as deeply encoded facts of the individual s past such as his or her own name
subclavian steal syndrome
transient ischemic attack
a transient ischemic attack tia is a transient episode of neurologic dysfunction caused by ischemia loss of blood flow – either focal brain spinal cord or retinal – without acute infarction tissue death tias have the same underlying cause as strokes a disruption of cerebral blood flow cbf and are often referred to as mini strokes symptoms caused by a tia resolve in 24 hours or less tia was originally defined clinically by the temporary nature of less than 24 hours of the associated neurologic symptoms recently the american heart association and american stroke association aha asa defined tia as transient episode of neurologic dysfunction caused by focal brain spinal cord or retinal ischemia without acute infarction tias cause the same symptoms associated with stroke
medial medullary syndrome
medial medullary syndrome also known as inferior alternating syndrome hypoglossal alternating hemiplegia lower alternating hemiplegia or dejerine syndrome is a type of alternating hemiplegia characterized by a set of clinical features resulting from occlusion of the anterior spinal artery this results in the infarction of medial part of the medulla oblongata
millard – gubler syndrome
millard – gubler syndrome is a lesion of the pons it is also called ventral pontine syndrome
parinaud s syndrome
foville s syndrome
benedikt syndrome
benedikt syndrome also called benedikt s syndrome or paramedian midbrain syndrome is a rare type of posterior circulation stroke of the brain with a range of neurological symptoms affecting the midbrain cerebellum and other related structures
lateral medullary syndrome
lateral medullary syndrome also called wallenberg syndrome and posterior inferior cerebellar artery syndrome is a disorder in which the patient has a constellation of neurologic symptoms due to injury to the lateral part of the medulla in the brain resulting in tissue ischemia and necrosis
hypersomnia
circadian rhythm sleep disorder
circadian rhythm sleep disorders crsd a family of sleep disorders affect among other bodily processes the timing of sleep people with circadian rhythm sleep disorders are unable to go to sleep and awaken at the times commonly required for work and school as well as social needs they are generally able to get enough sleep if allowed to sleep and wake at the times dictated by their body clocks the quality of their sleep is usually normal unless they also have another sleep disorder
circadian rhythm sleep disorders crsd a family of sleep disorders affect among other bodily processes the timing of sleep people with circadian rhythm sleep disorders are unable to go to sleep and awaken at the times commonly required for work and school as well as social needs they are generally able to get enough sleep if allowed to sleep and wake at the times dictated by their body clocks the quality of their sleep is usually normal unless they also have another sleep disorder humans like most living organisms have various biological rhythms circadian rhythms often referred to as the body clock or the biological clock control processes that re occur daily e g body temperature alertness and hormone secretion as well as sleep timing due to the circadian clock sleepiness does not continuously increase throughout the day a person s desire and ability to fall asleep is influenced both by the length of time since the person woke from an adequate sleep and by internal circadian rhythms thus a person s body is ready for sleep and for wakefulness at relatively specific times of the day sleep researcher yaron dagan states that t hese disorders can lead to harmful psychological and functional difficulties and are often misdiagnosed and incorrectly treated due to the fact that doctors are unaware of their existence
delayed sleep phase disorder
delayed sleep phase disorder dspd also known as delayed sleep phase syndrome or delayed sleep phase type and in the 2014 revision of the international classification of sleep disorders iscd 3 delayed sleep wake phase disorder is a chronic dysregulation of a person s circadian rhythm biological clock compared to the general population and relative to societal norms the disorder affects the timing of sleep peak period of alertness the core body temperature rhythm and hormonal and other daily cycles people with dspd generally fall asleep some hours after midnight and have difficulty waking up in the morning people with dspd probably have a circadian period significantly longer than 24 hours depending on the severity the symptoms can be managed to a greater or lesser degree
delayed sleep phase disorder dspd also known as delayed sleep phase syndrome or delayed sleep phase type and in the 2014 revision of the international classification of sleep disorders iscd 3 delayed sleep wake phase disorder is a chronic dysregulation of a person s circadian rhythm biological clock compared to the general population and relative to societal norms the disorder affects the timing of sleep peak period of alertness the core body temperature rhythm and hormonal and other daily cycles people with dspd generally fall asleep some hours after midnight and have difficulty waking up in the morning people with dspd probably have a circadian period significantly longer than 24 hours depending on the severity the symptoms can be managed to a greater or lesser degree but no cure is known affected people often report that while they do not get to sleep until the early morning they do fall asleep around the same time every day unless they have another sleep disorder such as sleep apnea in addition to dspd patients can sleep well and have a normal need for sleep however they find it very difficult to wake up in time for a typical school or work day if they are allowed to follow their own schedules e g sleeping from 3 00 am to 12 00 noon their sleep is improved and they may not experience excessive daytime sleepiness attempting to force oneself onto daytime society s schedule with dspd has been compared to constantly living with jet lag dspd has in fact been referred to as social jet lag the syndrome usually develops in early childhood or adolescence an adolescent version may disappear in late adolescence or early adulthood otherwise dspd is a lifelong condition prevalence among adults equally distributed among women and men is around 0 15 or three in 2 000 prevalence among adolescents is as much as 7 – 16 dspd was first formally described in 1981 by elliot d weitzman and others at montefiore medical center it is responsible for 7 – 10 of patient complaints of chronic insomnia however since many doctors are unfamiliar with the condition it often goes untreated or is treated inappropriately dspd is often misdiagnosed as primary insomnia or as a psychiatric condition dspd can be treated or helped in some cases by careful daily sleep practices light therapy dark therapy and medications such as melatonin and modafinil provigil the former is a natural neurohormone partly responsible for the human body clock at its most severe and inflexible dspd is a disability a chief difficulty of treating dspd is in maintaining an earlier schedule after it has been established as the patient s body has a strong tendency to reset the sleeping schedule to its intrinsic late times people with dspd may improve their quality of life by choosing careers that allow late sleeping times rather than forcing themselves to follow a conventional 9 to 5 work schedule
jet lag
jet lag medically referred to as desynchronosis and rarely as circadian dysrhythmia is a physiological condition which results from alterations to the body s circadian rhythms resulting from rapid long distance trans meridian east – west or west – east travel on high speed aircraft for example someone travelling from new york to london feels as if the time were five hours earlier than local time jet lag was previously classified as one of the circadian rhythm sleep disorders
jet lag medically referred to as desynchronosis and rarely as circadian dysrhythmia is a physiological condition which results from alterations to the body s circadian rhythms resulting from rapid long distance trans meridian east – west or west – east travel on high speed aircraft for example someone travelling from new york to london feels as if the time were five hours earlier than local time jet lag was previously classified as one of the circadian rhythm sleep disorders the condition of jet lag may last several days before the traveller is fully adjusted to the new time zone a recovery period of one day per time zone crossed is a suggested guideline jet lag is especially an issue for airline pilots crew and frequent travellers airlines have regulations aimed at combating pilot fatigue caused by jet lag the term jet lag is used because before the arrival of passenger jet aircraft it was uncommon to travel far and fast enough to cause jet lag travel by propeller driven aircraft by ship or by train were slower and of more limited distance than jet flights and thus did not contribute widely to the problem
central hypoventilation syndrome
central hypoventilation syndrome chs is a respiratory disorder that results in respiratory arrest during sleep chs can either be congenital cchs or acquired ahcs later in life it is fatal if untreated it is also known by ondine s curse
sleep apnea
sleep apnea is a sleep disorder characterized by pauses in breathing or periods of shallow breathing during sleep each pause can last for a few seconds to several minutes and they happen many times a night in the most common form this follows loud snoring there may be a choking or snorting sound as breathing resumes as it disrupts normal sleep those affected are often sleepy or tired during the day in children it may cause problems in school or hyperactivity
sleep apnea is a sleep disorder characterized by pauses in breathing or periods of shallow breathing during sleep each pause can last for a few seconds to several minutes and they happen many times a night in the most common form this follows loud snoring there may be a choking or snorting sound as breathing resumes as it disrupts normal sleep those affected are often sleepy or tired during the day in children it may cause problems in school or hyperactivity there are three forms of sleep apnea obstructive osa central csa and a combination of the two osa is the most common form risk factors for osa include being overweight a family history of the condition allergies and enlarged tonsils in osa breathing is interrupted by a blockage of airflow while in csa breathing stops due to a lack of effort to breathe people with sleep apnea are often not aware they have it often it is picked up by a family member sleep apnea is often diagnosed with an overnight sleep study for a diagnosis of sleep apnea more than five episodes an hour must occur treatment may include lifestyle changes mouthpieces breathing devices and surgery lifestyles changes may include avoiding alcohol weight loss stopping smoking and sleeping on their side breathing devices include the use of a cpap machine without treatment sleep apnea may increase the risk of heart attack stroke diabetes heart failure irregular heartbeat obesity and motor vehicle collisions osa affects 1 6 of adults and 2 of children it affects males about twice as often as female while people at any age can be affected it occurs most commonly among those 55 to 60 years old central sleep apnea affects less than one percent of people a type of central sleep apnea was described in the german myth of ondine s curse where when asleep the person would forget to breathe
narcolepsy
narcolepsy is a long term neurological disorder that involves a decreased ability to regulate sleep wake cycles symptoms include periods of excessive daytime sleepiness that usually lasts from seconds to minutes and may occur at any time about 70 also have periods of sudden loss of muscle strength known as cataplexy these spells can be brought on by strong emotions less commonly there may be vivid dream like images or the inability to move for a period of time during falling asleep or upon waking up people with narcolepsy sleep about the same amount of hours per day as people without but the quality of sleep tends to be worse
narcolepsy is a long term neurological disorder that involves a decreased ability to regulate sleep wake cycles symptoms include periods of excessive daytime sleepiness that usually lasts from seconds to minutes and may occur at any time about 70 also have periods of sudden loss of muscle strength known as cataplexy these spells can be brought on by strong emotions less commonly there may be vivid dream like images or the inability to move for a period of time during falling asleep or upon waking up people with narcolepsy sleep about the same amount of hours per day as people without but the quality of sleep tends to be worse the cause of narcolepsy is unknown in up to 10 of cases there is a family history of the disorder often those affected have low levels of the neurotransmitter hypocretin which may be due to an autoimmune disorder trauma certain infections toxins or psychological stress may also play a role diagnosis is typically based on the symptoms and sleep studies after ruling out other potential causes excessive daytime sleepiness can also be caused by other sleep disorders such as sleep apnea major depressive disorder anemia heart failure drinking alcohol and not getting enough sleep cataplexy may be mistaken for seizures while there is no cure a number of lifestyle changes and medications may help lifestyle changes include taking regular short naps and sleep hygiene medications used include modafinil sodium oxybate and methylphenidate while initially fairly effective tolerance to the benefits may develop tricyclic antidepressants and selective serotonin reuptake inhibitors ssris may improve cataplexy about 0 2 to 600 per 100 000 people are affected the condition often begins in childhood men and women are affected equally untreated narcolepsy increases the risk of motor vehicle collisions and falls the term narcolepsy is from the french narcolepsie the french term was first used in 1880 by jean baptiste édouard gélineau who used the greek νάρκη narkē meaning numbness and λῆψις lepsis meaning attack
cataplexy
periodic limb movement disorder
kleine – levin syndrome
kleine – levin syndrome kls also known as sleeping beauty syndrome is a rare sleep disorder characterized by persistent episodic hypersomnia and cognitive or mood changes many patients also experience hyperphagia hypersexuality and other symptoms patients generally experience recurrent episodes of the condition for more than a decade individual episodes generally last more than a week but less than a month the condition greatly affects the personal professional and social lives of sufferers but symptoms spontaneously resolve and seldom cause permanent issues the severity of symptoms and the course of the syndrome vary between sufferers patients commonly have about 20 episodes over about a decade several months generally elapse between episodes the onset of the condition usual
atypical trigeminal neuralgia
atypical trigeminal neuralgia atn or type 2 trigeminal neuralgia is a form of trigeminal neuralgia a disorder of the fifth cranial nerve this form of nerve pain is difficult to diagnose as it is rare and the symptoms overlap with several other disorders the symptoms can occur in addition to having migraine headache or can be mistaken for migraine alone or dental problems such as temporomandibular joint disorder musculoskeletal issues or hypochondriasis atn can have a wide range of symptoms and the pain can fluctuate in intensity from mild aching to a crushing or burning sensation and also to the extreme pain experienced with the more common trigeminal neuralgia
trigeminal neuralgia
trigeminal neuralgia tn or tgn is a chronic pain disorder that affects the trigeminal nerve there are two main types typical and atypical trigeminal neuralgia the typical form results in episodes of severe sudden shock like pain in one side of the face that lasts for seconds to a few minutes groups of these episodes can occur over a few hours the atypical form results in a constant burning pain that is less severe episodes may be triggered by any touch to the face both forms may occur in the same person it is one of the most painful conditions and can result in depression
facial nerve paralysis
melkersson – rosenthal syndrome
melkersson – rosenthal syndrome also termed miescher melkersson rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis swelling of the face and lips usually the upper lip and the development of folds and furrows in the tongue onset is in childhood or early adolescence after recurrent attacks ranging from days to years in between swelling may persist and increase eventually becoming permanent the lip may become hard cracked and fissured with a reddish brown discoloration the cause of melkersson – rosenthal syndrome is unknown but there may be a genetic predisposition it has been noted to be especially prevalent among certain ethnic groups in bolivia it can be symptomatic of crohn s disease or sarcoidosis
myokymia
myokymia from the greek mŷs muscle kŷm kŷmia something swollen or kŷmos wave is an involuntary spontaneous localised quivering of a few muscles or bundles within a muscle but which are insufficient to move a joint one type is superior oblique myokymia myokymia in otherwise unrelated body parts may occur in neuromyotonia
superior oblique myokymia
superior oblique myokymia is a neurological disorder affecting vision and was named by hoyt and keane in 1970 it is a condition that presents as repeated brief episodes of movement shimmering or shaking of the vision of one eye a feeling of the eye trembling or vertical tilted vision it can present as one or more of these symptoms diagnosis is most often made by the elimination of other conditions disorders or diseases onset usually occurs in adulthood and the course is benign and is not commonly associated with other disorders
parry – romberg syndrome
parry – romberg syndrome also known as progressive hemifacial atrophy is a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin usually on only one side of the face hemifacial atrophy but occasionally extending to other parts of the body an autoimmune mechanism is suspected and the syndrome may be a variant of localized scleroderma but the precise etiology and pathogenesis of this acquired disorder remains unknown it has been reported in the literature as a possible consequence of sympathectomy the syndrome has a higher prevalence in females and typically appears between 5 – 15 years of age
occipital neuralgia
occipital neuralgia also known as c 2 neuralgia or rarely arnold s neuralgia is a medical condition characterized by chronic pain in the upper neck back of the head and behind the eyes these areas correspond to the locations of the lesser and greater occipital nerves wrapped around the greater occipital nerve is the occipital artery which can contribute to the neuralgia the condition is also sometimes characterized by diminished sensation in the affected area symptoms include sharp jabbing intense pains or sensations burning and or pricking feeling
radiculopathy
radiculopathy refers to a set of conditions in which one or more nerves are affected and do not work properly a neuropathy the location of the injury is at the level of the nerve root radix root this can result in pain radicular pain weakness numbness or difficulty controlling specific muscles the radicular pain that results from a radiculopathy should not be confused with referred pain which is different both in mechanism and clinical features polyradiculopathy refers to the condition where more than one spinal nerve root is affected
thoracic outlet syndrome
thoracic outlet syndrome tos is a condition in which there is compression of the nerves arteries or veins in the passageway from the lower neck to the armpit there are three main types neurogenic venous and arterial the neurogenic type is the most common and presents with pain weakness and occasionally loss of muscle at the base of the thumb the venous type results in swelling pain and possibly a bluish coloration of the arm the arterial type results in pain coldness and paleness of the arm
thoracic outlet syndrome tos is a condition in which there is compression of the nerves arteries or veins in the passageway from the lower neck to the armpit there are three main types neurogenic venous and arterial the neurogenic type is the most common and presents with pain weakness and occasionally loss of muscle at the base of the thumb the venous type results in swelling pain and possibly a bluish coloration of the arm the arterial type results in pain coldness and paleness of the arm tos may result from trauma repetitive arm movements tumors pregnancy or anatomical variations such as a cervical rib the diagnosis may be supported by nerve conduction studies and medical imaging other conditions that can produce similar symptoms include rotator cuff tear cervical disc disorders fibromyalgia multiple sclerosis and complex regional pain syndrome initial treatment for the neurogenic type is with exercises to strengthen the chest muscles and improve posture nsaids such as naproxen may be used for pain surgery is typically done for the arterial and venous types and for the neurogenic type if it does not improve with other treatments blood thinners may be used to treat or prevent blood clots the condition affects about 1 of the population it is more common in women than men and it occurs most commonly between 20 and 50 years of age the condition was first described in 1818 and the current term thoracic outlet syndrome first used in 1956
parsonage – turner syndrome
parsonage – turner syndrome is also known as acute brachial neuropathy and acute brachial radiculitis other names used are parsonage – aldren – turner syndrome neuralgic amyotrophy brachial neuritis brachial plexus neuropathy or brachial plexitis parsonage – turner syndrome has an incidence of 1 64 cases in 100 000 people
phantom limb
a phantom limb is the sensation that an amputated or missing limb is still attached approximately 60 to 80 of individuals with an amputation experience phantom sensations in their amputated limb and the majority of the sensations are painful phantom sensations may also occur after the removal of body parts other than the limbs e g after amputation of the breast extraction of a tooth phantom tooth pain or removal of an eye phantom eye syndrome
carpal tunnel syndrome
carpal tunnel syndrome cts is a medical condition due to compression of the median nerve as it travels through the wrist at the carpal tunnel the main symptoms are pain numbness and tingling in the thumb index finger middle finger and the thumb side of the ring fingers symptoms typically start gradually and during the night pain may extend up the arm weak grip strength may occur and after a long period of time the muscles at the base of the thumb may waste away in more than half of cases both sides are affected
carpal tunnel syndrome cts is a medical condition due to compression of the median nerve as it travels through the wrist at the carpal tunnel the main symptoms are pain numbness and tingling in the thumb index finger middle finger and the thumb side of the ring fingers symptoms typically start gradually and during the night pain may extend up the arm weak grip strength may occur and after a long period of time the muscles at the base of the thumb may waste away in more than half of cases both sides are affected risk factors include obesity repetitive wrist work pregnancy and rheumatoid arthritis there is tentative evidence that hypothyroidism increases the risk it is unclear if diabetes plays a role the use of birth control pills does not affect the risk types of work that are associated include computer work work with vibrating tools and work that requires a strong grip diagnosis is suspected based on signs symptoms and specific physical tests and may be confirmed with electrodiagnostic tests if muscle wasting at the base of the thumb is present the diagnosis is likely being physically active can decrease the risk of developing cts symptoms can be improved by wearing a wrist splint or with corticosteroid injections taking nsaids or gabapentin does not appear to be useful surgery to cut the transverse carpal ligament is effective with better results at a year compared to non surgical options further splinting after surgery is not needed evidence does not support magnet therapy about 5 of people in the united states have carpal tunnel syndrome it usually begins in adulthood and women are more commonly affected than men up to 33 of people may improve without specific treatment over approximately a year carpal tunnel syndrome was first fully described after world war ii
tinel s sign
tinel s sign is a way to detect irritated nerves it is performed by lightly tapping percussing over the nerve to elicit a sensation of tingling or pins and needles in the distribution of the nerve it takes its name from french neurologist jules tinel 1879 – 1952 although most frequently associated with carpal tunnel syndrome tinel s sign is a generalized term and can also be positive in tarsal tunnel syndrome or in ulnar nerve impingement at the wrist guyon s canal syndrome where it affects the other ulnar half of the fourth digit and the fifth digit
tinel s sign is a way to detect irritated nerves it is performed by lightly tapping percussing over the nerve to elicit a sensation of tingling or pins and needles in the distribution of the nerve it takes its name from french neurologist jules tinel 1879 – 1952 for example in carpal tunnel syndrome where the median nerve is compressed at the wrist tinel s sign is often positive causing tingling in the thumb index middle finger and the radial half of the fourth digit tinel s sign is sometimes referred to as distal tingling on percussion or dtp this distal sign of regeneration can be expected during different stage of somatosensory recovery although most frequently associated with carpal tunnel syndrome tinel s sign is a generalized term and can also be positive in tarsal tunnel syndrome or in ulnar nerve impingement at the wrist guyon s canal syndrome where it affects the other ulnar half of the fourth digit and the fifth digit
anterior interosseous syndrome
anterior interosseous syndrome or kiloh nevin syndrome i is a medical condition in which damage to the anterior interosseous nerve ain a motor branch of the median nerve causes pain in the forearm and a characteristic weakness of the pincer movement of the thumb and index finger most cases of ain syndrome are due to a transient neuritis although compression of the ain can happen trauma to the median nerve have also been reported as a cause of ain syndrome
anterior interosseous syndrome or kiloh nevin syndrome i is a medical condition in which damage to the anterior interosseous nerve ain a motor branch of the median nerve causes pain in the forearm and a characteristic weakness of the pincer movement of the thumb and index finger most cases of ain syndrome are due to a transient neuritis although compression of the ain can happen trauma to the median nerve have also been reported as a cause of ain syndrome although there is still controversy among upper extremity surgeons ain syndrome is now regarded as a neuritis inflammation of the nerve in most cases this is similar to parsonage – turner syndrome although the exact etiology is unknown there is evidence that it is caused by an immune mediated response studies are limited and no randomized controlled trials have been performed regarding the treatment of ain syndrome while the natural history of ain syndrome is not fully understood studies following patients who have been treated without surgery show that symptoms can resolve starting as late as one year after onset other retrospective studies have shown that there is no difference in outcome in surgically versus nonsurgically treated patients surgical decompression is rarely indicated in ain syndrome indications for considering surgery include a known space occupying lesion that is compressing the nerve a mass and persistent symptoms beyond 1 year of conservative treatment
ulnar nerve entrapment
ulnar nerve entrapment is classified by location of entrapment the ulnar nerve passes through several small tunnels and outlets through the medial upper extremity and at these points the nerve is vulnerable to compression or entrapment — a so called pinched nerve a pinched nerve may also be the result of another injury so be aware the nerve is particularly vulnerable to injury when there has been a disruption in the normal anatomy the most common site of ulnar nerve entrapment is at the elbow followed by the wrist
radial neuropathy
radial neuropathy or radial mononeuropathy is a type of mononeuropathy which results from acute trauma to the radial nerve that extends the length of the arm it is known as transient paresthesia when sensation is temporarily abnormal
piriformis syndrome
piriformis syndrome is a neuromuscular disorder that occurs when the sciatic nerve is compressed or otherwise irritated by the piriformis muscle causing pain tingling and numbness in the buttocks and along the path of the sciatic nerve descending the lower thigh and into the leg diagnosis is often difficult due to few validated and standardized diagnostic tests but two tests have been well described and clinically validated one is electrophysiological called the fair test which measures delay in sciatic nerve conductions when the piriformis muscle is stretched against it the other is magnetic resonance neurography a type of mri that highlights inflammation and the nerves themselves some say that the most important criterion is the exclusion of sciatica resulting from compression i
meralgia paraesthetica
meralgia paresthetica or meralgia paraesthetica or bernhardt roth syndrome is numbness or pain in the outer thigh not caused by injury to the thigh but by injury to a nerve that extends from the thigh to the spinal column this chronic neurological disorder involves a single nerve — the lateral cutaneous nerve of thigh which is also called the lateral femoral cutaneous nerve and hence the syndrome lateral femoral cutaneous neuropathy the term meralgia paraesthetica combines four greek roots to mean thigh pain with anomalous perception
morton s neuroma
morton s neuroma also known as morton neuroma morton s metatarsalgia intermetatarsal neuroma and intermetatarsal space neuroma is a benign neuroma of an intermetatarsal plantar nerve most commonly of the second and third intermetatarsal spaces between 2 nd − 3 rd and 3 rd − 4 th metatarsal heads which results in the entrapment of the affected nerve the main symptoms are pain and or numbness sometimes relieved by removing footwear
neurapraxia
neurapraxia is a disorder of the peripheral nervous system in which there is a temporary loss of motor and sensory function due to blockage of nerve conduction usually lasting an average of six to eight weeks before full recovery neurapraxia is derived from the word apraxia meaning “ loss or impairment of the ability to execute complex coordinated movements without muscular or sensory impairment ” neurapraxia is very common in professional athletes especially american football players and is a condition that can and should be treated by a physician
polyneuropathy
polyneuropathy poly neuro pathy is damage or disease affecting peripheral nerves peripheral neuropathy in roughly the same areas on both sides of the body featuring weakness numbness and burning pain it usually begins in the hands and feet and may progress to the arms and legs and sometimes to other parts of the body where it may affect the autonomic nervous system it may be acute or chronic a number of different disorders may cause polyneuropathy including diabetes and some types of guillain – barré syndrome
charcot – marie – tooth disease
charcot – marie – tooth disease cmt is one of the hereditary motor and sensory neuropathies a group of varied inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body currently incurable this disease is the most commonly inherited neurological disorder and affects approximately 1 in 2 500 people cmt was previously classified as a subtype of muscular dystrophy
dejerine – sottas disease
dejerine – sottas disease also known as dejerine – sottas syndrome dejerine – sottas neuropathy progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy and hereditary motor and sensory polyneuropathy type iii and charcot – marie – tooth disease type 3 is a hereditary neurological disorder characterised by damage to the peripheral nerves and resulting progressive muscle wasting the condition is caused by mutations in a various genes and currently has no known cure
refsum disease
refsum disease also known as classic or adult refsum disease heredopathia atactica polyneuritiformis phytanic acid oxidase deficiency and phytanic acid storage disease is an autosomal recessive neurological disease that results from the over accumulation of phytanic acid in cells and tissues it is one of several disorders named after norwegian neurologist sigvald bernhard refsum 1907 – 1991 refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid humans obtain the necessary phytanic acid primarily though diet it is still unclear what function phytanic acid plays physiologically in humans but has been found to regulate fatty acid metabolism in the liver of mice
guillain – barré syndrome
guillain – barré syndrome gbs is a rapid onset muscle weakness caused by the immune system damaging the peripheral nervous system the initial symptoms are typically changes in sensation or pain along with muscle weakness beginning in the feet and hands this often spreads to the arms and upper body with both sides being involved the symptoms develop over hours to a few weeks during the acute phase the disorder can be life threatening with about 15 developing weakness of the breathing muscles requiring mechanical ventilation some are affected by changes in the function of the autonomic nervous system which can lead to dangerous abnormalities in heart rate and blood pressure
guillain – barré syndrome gbs is a rapid onset muscle weakness caused by the immune system damaging the peripheral nervous system the initial symptoms are typically changes in sensation or pain along with muscle weakness beginning in the feet and hands this often spreads to the arms and upper body with both sides being involved the symptoms develop over hours to a few weeks during the acute phase the disorder can be life threatening with about 15 developing weakness of the breathing muscles requiring mechanical ventilation some are affected by changes in the function of the autonomic nervous system which can lead to dangerous abnormalities in heart rate and blood pressure the cause is unknown the underlying mechanism involves an autoimmune disorder in which the body s immune system mistakenly attacks the peripheral nerves and damages their myelin insulation sometimes this immune dysfunction is triggered by an infection or less commonly surgery or vaccination the diagnosis is usually made based on the signs and symptoms through the exclusion of alternative causes and supported by tests such as nerve conduction studies and examination of the cerebrospinal fluid there are a number of subtypes based on the areas of weakness results of nerve conduction studies and the presence of certain antibiodies it is classified as an acute polyneuropathy in those with severe weakness prompt treatment with intravenous immunoglobulins or plasmapheresis together with supportive care will lead to good recovery in the majority recovery may take weeks to years about a third have some permanent weakness globally death occurs in about 7 5 of those affected guillain – barré syndrome is rare at one or two cases per 100 000 people every year both sexes and all parts of the world have similar rates of disease the syndrome is named after the french neurologists georges guillain and jean alexandre barré who described it with andré strohl in 1916
multifocal motor neuropathy
multifocal motor neuropathy mmn is a progressively worsening condition where muscles in the extremities gradually weaken the disorder a pure motor neuropathy syndrome is sometimes mistaken for amyotrophic lateral sclerosis als because of the similarity in the clinical picture especially if muscle fasciculations are present mmn is thought to be autoimmune it was first described in the mid 1980 s
chronic inflammatory demyelinating polyneuropathy
small fiber peripheral neuropathy
small fiber peripheral neuropathy is a type of peripheral neuropathy that occurs from damage to the small unmyelinated peripheral nerve fibers these fibers categorized as c fibers are present in skin peripheral nerves and organs the role of these nerves is to innervate the skin somatic fibers and help control autonomic function autonomic fibers it is estimated that 15 20 million people in the united states suffer from some form of peripheral neuropathy
peripheral neuropathy
peripheral neuropathy pn is damage to or disease affecting nerves which may impair sensation movement gland or organ function or other aspects of health depending on the type of nerve affected common causes include systemic diseases such as diabetes or leprosy vitamin deficiency medication e g chemotherapy traumatic injury radiation therapy excessive alcohol consumption immune system disease coeliac disease or viral infection it can also be genetic present from birth or idiopathic no known cause in conventional medical usage the word neuropathy neuro nervous system and pathy disease of without modifier usually means peripheral neuropathy
peripheral neuropathy pn is damage to or disease affecting nerves which may impair sensation movement gland or organ function or other aspects of health depending on the type of nerve affected common causes include systemic diseases such as diabetes or leprosy vitamin deficiency medication e g chemotherapy traumatic injury radiation therapy excessive alcohol consumption immune system disease coeliac disease or viral infection it can also be genetic present from birth or idiopathic no known cause in conventional medical usage the word neuropathy neuro nervous system and pathy disease of without modifier usually means peripheral neuropathy neuropathy affecting just one nerve is called mononeuropathy and neuropathy involving multiple nerves in roughly the same areas on both sides of the body is called symmetrical polyneuropathy or simply polyneuropathy when two or more typically just a few but sometimes many separate nerves in disparate areas of the body are affected it is called mononeuritis multiplex multifocal mononeuropathy or multiple mononeuropathy peripheral neuropathy may be chronic a long term condition where symptoms begin subtly and progress slowly or acute sudden onset rapid progress and slow resolution acute neuropathies demand urgent diagnosis motor nerves that control muscles sensory nerves or autonomic nerves that control automatic functions such as heart rate body temperature and breathing may be affected more than one type of nerve may be affected at the same time peripheral neuropathies may be classified according to the type of nerve predominantly involved or by the underlying cause neuropathy may cause painful cramps fasciculations fine muscle twitching muscle loss bone degeneration and changes in the skin hair and nails additionally motor neuropathy may cause impaired balance and coordination or most commonly muscle weakness sensory neuropathy may cause numbness to touch and vibration reduced position sense causing poorer coordination and balance reduced sensitivity to temperature change and pain spontaneous tingling or burning pain or skin allodynia severe pain from normally nonpainful stimuli such as light touch and autonomic neuropathy may produce diverse symptoms depending on the affected glands and organs but common symptoms are poor bladder control abnormal blood pressure or heart rate and reduced ability to sweat normally
myasthenia gravis
myasthenia gravis mg is a long term neuromuscular disease that leads to varying degrees of muscle weakness the most commonly affected muscles are those of the eyes face and swallowing it can result in double vision drooping eyelids trouble talking and trouble walking onset can be sudden those affected often have a large thymus gland or develop a thymoma
myasthenia gravis mg is a long term neuromuscular disease that leads to varying degrees of muscle weakness the most commonly affected muscles are those of the eyes face and swallowing it can result in double vision drooping eyelids trouble talking and trouble walking onset can be sudden those affected often have a large thymus gland or develop a thymoma myasthenia gravis is an autoimmune disease which results from antibodies that block acetylcholine receptors at the junction between the nerve and muscle this prevents nerve impulses from triggering muscle contractions rarely an inherited genetic defect in the neuromuscular junction results in a similar condition known as congenital myasthenia babies of mothers with myasthenia may have symptoms during their first few months of life known as neonatal myasthenia diagnosis can be supported by blood tests for specific antibodies the edrophonium test or nerve conduction studies myasthenia gravis is generally treated with medications known as acetylcholinesterase inhibitors such as neostigmine and pyridostigmine immunosuppressants such as prednisone or azathioprine may also be used the surgical removal of the thymus gland may improve symptoms in certain cases plasmapheresis and high dose intravenous immunoglobulin may be used during sudden flares of the condition if the breathing muscles become significantly weak mechanical ventilation may be required myasthenia gravis affects 50 to 200 per million people it is newly diagnosed in 3 to 30 per million people each year diagnosis is becoming more common due to increased awareness it most commonly occurs in women under the age of 40 and in men over the age of 60 it is uncommon in children with treatment most of those affected lead relatively normal lives and have a normal life expectancy the word is from the greek μύς muscle and asthenia weakness and the latin gravis serious
congenital myasthenic syndrome
congenital myasthenic syndrome cms is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction the effects of the disease are similar to lambert eaton syndrome and myasthenia gravis the difference being that cms is not an autoimmune disorder
myopathy
myopathy is a muscular disease in which the muscle fibers do not function for any one of many reasons resulting in muscular weakness myopathy simply means muscle disease myo greek μυο muscle pathos pathy greek suffering this meaning implies that the primary defect is within the muscle as opposed to the nerves neuropathies or neurogenic disorders or elsewhere e g the brain etc muscle cramps stiffness and spasm can also be associated with myopathy
myopathy is a muscular disease in which the muscle fibers do not function for any one of many reasons resulting in muscular weakness myopathy simply means muscle disease myo greek μυο muscle pathos pathy greek suffering this meaning implies that the primary defect is within the muscle as opposed to the nerves neuropathies or neurogenic disorders or elsewhere e g the brain etc muscle cramps stiffness and spasm can also be associated with myopathy capture myopathy or shock disease is a little studied condition observed in wild animals such as hares and birds that have been captured or handled the condition is usually lethal and stress has been identified as the single most determining factor exacerbated by muscle exertion muscular disease can be classified as neuromuscular or musculoskeletal in nature some conditions such as myositis can be considered both neuromuscular and musculoskeletal
muscular dystrophy
muscular dystrophy md is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time the disorders differ in which muscles are primarily affected the degree of weakness how fast they worsen and when symptoms begin many people eventually become unable to walk some types are also associated with problems in other organs
muscular dystrophy md is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time the disorders differ in which muscles are primarily affected the degree of weakness how fast they worsen and when symptoms begin many people eventually become unable to walk some types are also associated with problems in other organs there are nine main categories of muscular dystrophy that contain more than thirty specific types the most common type is duchenne muscular dystrophy dmd which typically affects males beginning around the age of four other types include becker muscular dystrophy facioscapulohumeral muscular dystrophy and myotonic dystrophy they are due to mutations in genes that are involved in making muscle proteins this can occur due to either inheriting the defect from one s parents or the mutation occurring during early development disorders may be x linked recessive autosomal recessive or autosomal dominant diagnosis often involves blood tests and genetic testing there is no cure for muscular dystrophy physical therapy braces and corrective surgery may help with some symptoms assisted ventilation may be required in those with weakness of breathing muscles medications used include steroids to slow muscle degeneration anticonvulsants to control seizures and some muscle activity and immunosuppressants to delay damage to dying muscle cells outcomes depend on the specific type of disorder duchenne muscular dystrophy which represents about half of all cases of muscular dystrophy affects about one in 5 000 males at birth muscular dystrophy was first described in the 1830 s by charles bell the word dystrophy is from the greek dys meaning difficult and troph meaning nourish gene therapy as a treatment is in the early stages of study in humans
duchenne muscular dystrophy
duchenne muscular dystrophy dmd is a severe type of muscular dystrophy the symptom of muscle weakness usually begin around the age of four in boys and worsens quickly typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms this can result in trouble standing up most are unable to walk by the age of twelve affected muscles may look larger due to increased fat content scoliosis is also common some may have intellectual disability females with a single copy of the defective gene may show mild symptoms
limb girdle muscular dystrophy
emery – dreifuss muscular dystrophy
emery – dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement such as skeletal muscles and also affects the cardiac muscle it is named after alan eglin h emery and fritz e dreifuss
becker s muscular dystrophy
facioscapulohumeral muscular dystrophy
facioscapulohumeral muscular dystrophy fshmd fshd or fsh — originally named landouzy dejerine — is a usually autosomal dominant inherited form of muscular dystrophy md that initially affects the skeletal muscles of the face facio scapula scapulo and upper arms humeral fshd is the third most common genetic disease of skeletal muscle orpha net lists the prevalence as 4 100 000 while a 2014 population based study in the netherlands reported a significantly higher prevalence of 12 in 100 000
facioscapulohumeral muscular dystrophy fshmd fshd or fsh — originally named landouzy dejerine — is a usually autosomal dominant inherited form of muscular dystrophy md that initially affects the skeletal muscles of the face facio scapula scapulo and upper arms humeral fshd is the third most common genetic disease of skeletal muscle orpha net lists the prevalence as 4 100 000 while a 2014 population based study in the netherlands reported a significantly higher prevalence of 12 in 100 000 symptoms may develop in early childhood and are usually noticeable in the teenage years with 95 of affected individuals manifesting disease by age 20 years a progressive skeletal muscle weakness usually develops in other areas of the body as well often the weakness is asymmetrical life expectancy can be threatened by respiratory insufficiency and up to 20 of affected individuals become severely disabled requiring use of a wheel chair or mobility scooter in a dutch study approximately 1 of patients required nocturnal or diurnal ventilatory support non muscular symptoms frequently associated with fshd include subclinical sensorineural hearing loss and retinal telangiectasia in more than 95 of known cases the disease is associated with contraction of the d 4 z 4 repeat in the 4 q 35 subtelomeric region of chromosome 4 seminal research published in august 2010 now shows the disease requires a second mechanism which for the first time provides for its underlying genetics the second mechanism is a toxic gain of function of the dux 4 gene which is the first time in genetic research that a dead gene has been found to wake up and cause disease building on the 2010 unified theory of fshd researchers in 2014 published the first proposed pathophysiology definition of the disease and four viable therapeutic targets for possible intervention points
myotonic dystrophy
myotonic dystrophy is a long term genetic disorder that affects muscle function symptoms include gradually worsening muscle loss and weakness often muscle contract and are unable to relax other symptoms may include cataracts intellectual disability and heart conduction problems in men their may be early balding and an inability to have children
neuromyotonia
neuromyotonia nmt also known as isaacs syndrome and isaacs merton syndrome is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin prevalence is unknown but 100 – 200 cases have been reported so far
myotonia
myotonia myo from greek muscle and tonus from latin tension is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation prolonged contraction of the skeletal muscles after voluntary contraction or electrical stimulation myotonia is present in myotonia congenita paramyotonia congenita and myotonic dystrophy myotonia can affect all muscle groups however the pattern of affected muscles can vary depending on the specific disorder involved
myotonia myo from greek muscle and tonus from latin tension is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation prolonged contraction of the skeletal muscles after voluntary contraction or electrical stimulation myotonia is present in myotonia congenita paramyotonia congenita and myotonic dystrophy generally repeated contraction of the muscle can alleviate the myotonia and relax the muscles thus improving the condition however this is not the case in paramyotonia congenita this phenomenon is known as warm up and is not to be confused with warming up before exercise though they may appear similar individuals with the disorder may have trouble releasing their grip on objects or may have difficulty rising from a sitting position and a stiff awkward gait myotonia can affect all muscle groups however the pattern of affected muscles can vary depending on the specific disorder involved people suffering from disorders involving myotonia can have a life threatening reaction to certain anaesthetics one of these conditions occurs when the patient is under anaesthetic and is termed malignant hyperthermia
myotonia congenita
paramyotonia congenita
paramyotonia congenita pc also known as paramyotonia congenita of von eulenburg or eulenburg disease is a rare congenital autosomal dominant neuromuscular disorder characterized by “ paradoxical ” myotonia this type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia as seen in myotonia congenita is alleviated by exercise pc is also distinguished as it can be induced by cold temperatures although more typical of the periodic paralytic disorders patients with pc may also have potassium provoked paralysis pc typically presents within the first decade of life and has 100 penetrance patients with this disorder commonly present with myotonia in the face or upper extremities the lower extremities are generally less affected while
fukuyama congenital muscular dystrophy
fukuyama congenital muscular dystrophy fcmd is a rare autosomal recessive form of muscular dystrophy weakness and breakdown of muscular tissue mainly described in japan but also identified in turkish and ashkenazi jewish patients fifteen cases were first described on 1960 by fukuyama
centronuclear myopathy
centronuclear myopathies cnm are a group of congenital myopathies where cell nuclei are abnormally located in skeletal muscle cells in cnm the nuclei are located at a position in the center of the cell instead of their normal location at the periphery symptoms of cnm include severe hypotonia hypoxia requiring breathing assistance and scaphocephaly among centronuclear myopathies the x linked myotubular myopathy form typically presents at birth and is thus considered a congenital myopathy however some centronuclear myopathies may present later in life
central core disease
central core disease ccd also known as central core myopathy is an autosomal dominant congenital myopathy inborn muscle disorder it was first described by shy and magee in 1956 it is characterized by the appearance of the myofibril under the microscope
nemaline myopathy
nemaline myopathy also called rod myopathy or nemaline rod myopathy is a congenital hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness hypoventilation swallowing dysfunction and impaired speech ability the severity of these symptoms varies and can change throughout one s life to some extent the prevalence is estimated at 1 in 50 000 live births it is the most common non dystrophic myopathy nemaline myopathy is one of the neuromuscular diseases covered by the muscular dystrophy association in the united states
brody myopathy
brody myopathy is a genetic disease it can be associated with atp 2 a 1 it was characterized in 1969
periodic paralysis
periodic paralysis also known as myoplegia paroxysmalis familiaris is a group of rare genetic diseases that lead to weakness or paralysis rarely death from common triggers such as cold heat high carbohydrate meals not eating stress or excitement and physical activity of any kind the underlying mechanism of these diseases are malfunctions in the ion channels in skeletal muscle cell membranes that allow electrically charged ions to leak in or out of the muscle cell causing the cell to depolarize and become unable to move a channelopathy
lambert – eaton myasthenic syndrome
lambert – eaton myasthenic syndrome lems also lambert – eaton syndrome or eaton – lambert syndrome is a rare autoimmune disorder that is characterized by muscle weakness of the limbs it is the result of an autoimmune reaction in which antibodies are formed against presynaptic voltage gated calcium channels and likely other nerve terminal proteins in the neuromuscular junction the connection between nerves and the muscle that they supply the prevalence is 3 4 cases per million around 60 of those with lems have an underlying malignancy most commonly small cell lung cancer it is therefore regarded as a paraneoplastic syndrome a condition that arises as a result of cancer elsewhere in the body
lambert – eaton myasthenic syndrome lems also lambert – eaton syndrome or eaton – lambert syndrome is a rare autoimmune disorder that is characterized by muscle weakness of the limbs it is the result of an autoimmune reaction in which antibodies are formed against presynaptic voltage gated calcium channels and likely other nerve terminal proteins in the neuromuscular junction the connection between nerves and the muscle that they supply the prevalence is 3 4 cases per million around 60 of those with lems have an underlying malignancy most commonly small cell lung cancer it is therefore regarded as a paraneoplastic syndrome a condition that arises as a result of cancer elsewhere in the body lems usually occurs in people over 40 years of age but it may occur any age the diagnosis is usually confirmed with electromyography and blood tests these also distinguish it from myasthenia gravis mg a related autoimmune neuromuscular disease if the disease is associated with cancer direct treatment of the cancer often relieves the symptoms of lems other treatments often used are steroids azathioprine which suppress the immune system intravenous immunoglobulin which outcompetes autoreactive antibody from fc receptors and pyridostigmine and 3 4 diaminopyridine which enhance the neuromuscular transmission occasionally plasma exchange is required to remove the antibodies
paraplegia
paraplegia is an impairment in motor or sensory function of the lower extremities the word comes from ionic greek παραπληγίη half striking it is usually caused by spinal cord injury or a congenital condition such as spina bifida that affects the neural elements of the spinal canal the area of the spinal canal that is affected in paraplegia is either the thoracic lumbar or sacral regions common victims of this impairment are veterans or members of the armed forces if four limbs are affected by paralysis tetraplegia or quadriplegia is the correct term if only one limb is affected the correct term is monoplegia
paraplegia is an impairment in motor or sensory function of the lower extremities the word comes from ionic greek παραπληγίη half striking it is usually caused by spinal cord injury or a congenital condition such as spina bifida that affects the neural elements of the spinal canal the area of the spinal canal that is affected in paraplegia is either the thoracic lumbar or sacral regions common victims of this impairment are veterans or members of the armed forces if four limbs are affected by paralysis tetraplegia or quadriplegia is the correct term if only one limb is affected the correct term is monoplegia spastic paraplegia is a form of paraplegia defined by spasticity of the affected muscles rather than flaccid paralysis
tetraplegia
tetraplegia also known as quadriplegia is paralysis caused by illness or injury that results in the partial or total loss of use of all four limbs and torso paraplegia is similar but does not affect the arms the loss is usually sensory and motor which means that both sensation and control are lost tetraparesis or quadriparesis on the other hand means muscle weakness affecting all four limbs it may be flaccid or spastic
cauda equina syndrome
brown séquard syndrome
familial dysautonomia
familial dysautonomia fd sometimes called riley – day syndrome and hereditary sensory and autonomic neuropathy type iii hsan iii is a disorder of the autonomic nervous system which affects the development and survival of sensory sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including insensitivity to pain inability to produce tears poor growth and labile blood pressure episodic hypertension and postural hypotension people with fd have frequent vomiting crises pneumonia problems with speech and movement difficulty swallowing inappropriate perception of heat pain and taste as well as unstable blood pressure and gastrointestinal dysmotility fd does not affect intelligence originally reported by conr
horner s syndrome
horner s syndrome is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk is damaged the signs and symptoms occur on the same side as the lesion of the sympathetic trunk it is characterized by miosis a constricted pupil ptosis a weak droopy eyelid apparent anhidrosis decreased sweating with or without enophthalmos inset eyeball
horner s syndrome is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk is damaged the signs and symptoms occur on the same side as the lesion of the sympathetic trunk it is characterized by miosis a constricted pupil ptosis a weak droopy eyelid apparent anhidrosis decreased sweating with or without enophthalmos inset eyeball the nerves of the sympathetic trunk arise from the spinal cord in the chest and from there ascend to the neck and face the nerves are part of the sympathetic nervous system a part of the autonomic or involuntary nervous system once the syndrome has been recognized medical imaging and response to particular eye drops may be required to identify the location of the problem and the underlying cause
multiple system atrophy
multiple system atrophy msa is a degenerative neurological disorder that depicts a group of disorders characterised by the neuronal degeneration mainly in the substantia nigra striatum autonomic nervous system and cerebellum following a report in 1964 of what was then called striatonigral degeneration many patients were recognised in whom the changes of striatonigral and olivopontocerebellar degeneration were combined and who had symptoms and signs of cerebellar ataxia and parkinsonian manifestations more than half of the patients with striatonigral degeneration have orthostatic hypotension which proves at autopsy to be associated with loss of intermediolateral horn cells origin of the presynaptic cholinergic sympathetic neurones and of pigmented nuclei of the brainstem
hydrocephalus
hydrocephalus is a condition in which there is an abnormal accumulation of cerebrospinal fluid csf within the brain this typically causes increased pressure inside the skull older people may have headaches double vision poor balance urinary incontinence personality changes or mental impairment in babies there may be a rapid increase in head size other symptoms may include vomiting sleepiness seizures and downward pointing of the eyes
normal pressure hydrocephalus
choroid plexus cyst
choroid plexus cysts cpcs are cysts that occur within choroid plexus of the brain the brain contains pockets or spaces called ventricles with a spongy layer of cells and blood vessels called the choroid plexus this is in the middle of the fetal brain the choroid plexus has the important function of producing cerebrospinal fluid the fluid produced by the cells of the choroid plexus fills the ventricles and then flows around the brain and the spinal cord to provide a cushion of fluid around these structures
arachnoid cyst
arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane one of the three membranes that cover the brain and the spinal cord arachnoid cysts are a congenital disorder and most cases begin during infancy however onset may be delayed until adolescence
porencephaly
porencephaly is an extremely rare cephalic disorder involving encephalomalacia it is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere porencephaly was termed by heschl in 1859 to describe a cavity in the human brain the cysts and cavities are usually the result of destructive or cystic brain lesions but can also be from abnormal development direct damage inflammation or hemorrhage the cysts and cavities cause a wide range of physiological physical and neurological symptoms depending on the patient this disorder may cause only minor neurological problems without any disruption on intelligence while others may be severely disabled or face death before the second decade of their lives however this disorder i
porencephaly is an extremely rare cephalic disorder involving encephalomalacia it is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere porencephaly was termed by heschl in 1859 to describe a cavity in the human brain the cysts and cavities are usually the result of destructive or cystic brain lesions but can also be from abnormal development direct damage inflammation or hemorrhage the cysts and cavities cause a wide range of physiological physical and neurological symptoms depending on the patient this disorder may cause only minor neurological problems without any disruption on intelligence while others may be severely disabled or face death before the second decade of their lives however this disorder is far more common within infants and porencephaly can occur in both before or after birth
idiopathic intracranial hypertension
idiopathic intracranial hypertension iih sometimes called by the older names benign intracranial hypertension bih or pseudotumor cerebri ptc is a neurological disorder that is characterized by increased intracranial pressure pressure around the brain in the absence of a tumor or other diseases the main symptoms are stroke like headache nausea and vomiting as well as pulsatile tinnitus sounds perceived in the ears with the sound occurring in the same rhythm as the pulse double vision and other visual symptoms if untreated it may lead to swelling of the optic disc in the eye which can progress to vision loss
idiopathic intracranial hypertension iih sometimes called by the older names benign intracranial hypertension bih or pseudotumor cerebri ptc is a neurological disorder that is characterized by increased intracranial pressure pressure around the brain in the absence of a tumor or other diseases the main symptoms are stroke like headache nausea and vomiting as well as pulsatile tinnitus sounds perceived in the ears with the sound occurring in the same rhythm as the pulse double vision and other visual symptoms if untreated it may lead to swelling of the optic disc in the eye which can progress to vision loss iih is diagnosed with a brain scan to rule out other causes and a lumbar puncture lumbar puncture may also provide temporary and sometimes permanent relief from the symptoms some respond to medication with the drug acetazolamide topiramate furosemide others or a combination but others require surgery to relieve the pressure the condition may occur in all age groups but is most common in women aged 20 – 40
pneumocephalus
pneumocephalus is the presence of air or gas within the cranial cavity it is usually associated with disruption of the skull after head and facial trauma tumors of the skull base after neurosurgery or otorhinolaryngology and rarely spontaneously pneumocephalus can occur in scuba diving but is very rare in this context if there is a valve mechanism which allows air to enter the skull but prevents it from escaping a tension pneumocephalus can occur similar to what can happen in a tension pneumothorax
pneumocephalus is the presence of air or gas within the cranial cavity it is usually associated with disruption of the skull after head and facial trauma tumors of the skull base after neurosurgery or otorhinolaryngology and rarely spontaneously pneumocephalus can occur in scuba diving but is very rare in this context if there is a valve mechanism which allows air to enter the skull but prevents it from escaping a tension pneumocephalus can occur similar to what can happen in a tension pneumothorax ct scans of patients with a tension pneumocephalus typically show air that compresses the frontal lobes of the brain which results in a tented appearance of the brain in the skull known as the mount fuji sign the name is derived from the resemblance of the brain to mount fuji in japan a volcano known for its symmetrical cone in typical cases there is a symmetrical depression near the midline such as the crater of a volcano due to intact bridging veins its occurrence seems to be limited to tension pneumocephalus not occurring in pneumocephalus without tension the sign was first described by a team of japanese neurosurgeons pneumocephalus has also been shown to follow neurosurgical procedures such as deep brain stimulation where while seemingly innocuous to the patient may cause brain shift and subsequent stereotactic inaccuracy efforts are made by neurosurgeons to reduce pneumocephalus volume during surgery and thus subsequent brain shift
chronic fatigue syndrome
chronic fatigue syndrome cfs is a medical condition characterized by long term fatigue and other symptoms that limit a person s ability to carry out ordinary daily activities quality of life of persons with cfs can be compromised biological genetic infectious and psychological mechanisms have been proposed but the cause is not understood the fatigue of cfs is not due to ongoing exertion is not much relieved by rest and is not due to any other medical condition diagnosis is based on a person s signs and symptoms
chronic fatigue syndrome cfs is a medical condition characterized by long term fatigue and other symptoms that limit a person s ability to carry out ordinary daily activities quality of life of persons with cfs can be compromised biological genetic infectious and psychological mechanisms have been proposed but the cause is not understood the fatigue of cfs is not due to ongoing exertion is not much relieved by rest and is not due to any other medical condition diagnosis is based on a person s signs and symptoms evidence suggests that cognitive behavioral therapy and a gradual increase in activity suited to individual capacity can be beneficial in some cases the medication rintatolimod may be useful for certain people estimates of the number of people with the condition vary from 7 to 3 000 per 100 000 adults about one million americans and a quarter of a million people in the uk have cfs fatigue is a common symptom in many illnesses but the fatigue experienced by persons with cfs is comparatively rare cfs occurs more often in women than men and is less common among children and adolescents there is agreement that cfs has a negative effect on health happiness and productivity but there is also controversy over many aspects of the disorder physicians researchers and patient advocates promote different names and diagnostic criteria while evidence for proposed causes and treatments is often contradictory or of low quality
encephalopathy
brain herniation
brain herniation is a potentially deadly side effect of very high pressure within the skull that occurs when a part of the brain is squeezed across structures within the skull the brain can shift across such structures as the falx cerebri the tentorium cerebelli and even through the foramen magnum the hole in the base of the skull through which the spinal cord connects with the brain herniation can be caused by a number of factors that cause a mass effect and increase intracranial pressure icp these include traumatic brain injury intracranial hemorrhage or brain tumor
cerebral edema
cerebral edema or cerebral oedema is excess accumulation of fluid in the intracellular or extracellular spaces of the brain
reye syndrome
reye syndrome is a rapidly progressive encephalopathy symptoms may include vomiting personality changes confusion seizures and loss of consciousness even though liver toxicity typically occurs yellowish skin usually does not death occurs in 20 40 of those affected and about a third of those who survive are left with a significant degree of brain damage
locked in syndrome
dejerine – roussy syndrome
dejerine – roussy syndrome or thalamic pain syndrome is a condition developed after a thalamic stroke a stroke causing damage to the thalamus ischemic strokes and hemorrhagic strokes can cause lesioning in the thalamus the lesions usually present in one hemisphere of the brain most often cause an initial lack of sensation and tingling in the opposite side of the body weeks to months later numbness can develop into severe and chronic pain that is not proportional to an environmental stimulus called dysaesthesia or allodynia as initial stroke symptoms numbness and tingling dissipate an imbalance in sensation causes these later syndromes characterizing dejerine – roussy syndrome although some treatments exist they are often expensive chemically based invasive and only treat pati
syringomyelia
syringomyelia sᵻˌrɪŋɡəmaɪˈiːliə ɡoʊ is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord this cyst called a syrinx can expand and elongate over time destroying the spinal cord the damage may result in pain paralysis weakness and stiffness in the back shoulders and extremities syringomyelia may also cause a loss of the ability to feel extremes of hot or cold especially in the hands there is also a disorder that generally leads to a cape like pain extreme pain pressure and many other painful symptoms in the area where a cape would be and temperature sensation along the back and arms each patient experiences a different combination of symptoms these symptoms typically vary depending on the extent and often more critically
spinal cord injury
a spinal cord injury sci is damage to the spinal cord that causes changes in its function either temporary or permanent these changes translate into loss of muscle function sensation or autonomic function in parts of the body served by the spinal cord below the level of the lesion injuries can occur at any level of the spinal cord and can be classified as complete injury a total loss of sensation and muscle function or incomplete meaning some nervous signals are able to travel past the injured area of the cord depending on the location and severity of damage along the spinal cord the symptoms can vary widely from pain or numbness to paralysis to incontinence the prognosis also ranges widely from full recovery in rare cases to permanent tetraplegia also called quadriplegia
keratitis – ichthyosis – deafness syndrome
subependymal giant cell astrocytoma
subependymal giant cell astrocytoma sega sgca or sgct is a low grade astrocytic brain tumor astrocytoma that arises within the ventricles of the brain it is most commonly associated with tuberous sclerosis complex tsc although it is a low grade tumor its location can potentially obstruct the ventricles and lead to hydrocephalus
zunich – kaye syndrome
stye
stye also known as hordeolum is an infection of an oil gland in the eyelid this results in a red tender bump at the edge of the eyelid the outside or the inside of the eyelid can be affected the cause of a stye is usually a bacterial infection by staphylococcus aureus the internal ones are due to infection of the meibomian gland while the external ones are due to an infection of the gland of zeis a chalazion on the other hand is a blocked oil gland without infection they are typically in the middle of the eyelid and non painful
stye also known as hordeolum is an infection of an oil gland in the eyelid this results in a red tender bump at the edge of the eyelid the outside or the inside of the eyelid can be affected the cause of a stye is usually a bacterial infection by staphylococcus aureus the internal ones are due to infection of the meibomian gland while the external ones are due to an infection of the gland of zeis a chalazion on the other hand is a blocked oil gland without infection they are typically in the middle of the eyelid and non painful often a stye will go away without any specific treatment in a few days or weeks recommendations to speed improvement include warm compresses occasionally antibiotic eye ointment may be recommended while these measures are often recommended evidence to support them is poor the frequency at which they occur is unclear they may happen at any age
chalazion
chalazion is a cyst in the eyelid due to a blocked oil gland they are typically in the middle of the eyelid red and non painful they tend to come on gradually over a few weeks a chalazion may occur following a stye or from hardened oils blocking the gland the blocked gland is usually the meibomian gland but can also be the gland of zeis a stye and cellulitis may appear similar a stye however is usually more sudden in onset painful and occurs at the edge of the eyelid cellulitis is also typically painful
chalazion is a cyst in the eyelid due to a blocked oil gland they are typically in the middle of the eyelid red and non painful they tend to come on gradually over a few weeks a chalazion may occur following a stye or from hardened oils blocking the gland the blocked gland is usually the meibomian gland but can also be the gland of zeis a stye and cellulitis may appear similar a stye however is usually more sudden in onset painful and occurs at the edge of the eyelid cellulitis is also typically painful treatment is typically initially with warm compresses if this is not effective injecting steroids into the lesion maybe tried if large incision and drainage maybe recommended while relatively common the frequency of the condition is unknown the term is from the greek khalazion meaning small hailstone
blepharitis
blepharitis blɛfərˈaɪtᵻs blef ər eye tis is a common eye condition characterized by chronic inflammation of the eyelid usually where eyelashes grow resulting in inflamed irritated itchy and reddened eyelids a number of diseases and conditions can lead to blepharitis it can be caused by the oil glands at the base of the eyelashes becoming clogged a bacterial infection allergies or other conditions the severity and course can vary onset can be acute resolving without treatment within 2 – 4 weeks this can be greatly reduced with lid hygiene but more generally is a long standing chronic inflammation of varying severity
trichiasis
trichiasis is a medical term for abnormally positioned eyelashes that grow back toward the eye touching the cornea or conjunctiva this can be caused by infection inflammation autoimmune conditions congenital defects eyelid agenesis and trauma such as burns or eyelid injury it is the leading cause of infectious blindness in the world repeated cases of trachoma infection may cause trichiasis posterior misdirection of normal lashes most frequently affects lower lid
trichiasis is a medical term for abnormally positioned eyelashes that grow back toward the eye touching the cornea or conjunctiva this can be caused by infection inflammation autoimmune conditions congenital defects eyelid agenesis and trauma such as burns or eyelid injury it is the leading cause of infectious blindness in the world standard treatment involves removal or destruction of the affected eyelashes with electrology specialized laser or surgery in many cases removal of the affected eyelashes with forceps resolves the symptoms although the problem often recurs in a few weeks when the eyelashes regrow severe cases may cause scarring of the cornea and lead to vision loss if untreated mild cases may not require treatment repeated cases of trachoma infection may cause trichiasis posterior misdirection of normal lashes most frequently affects lower lid
entropion
entropion is a medical condition in which the eyelid usually the lower lid folds inward it is very uncomfortable as the eyelashes constantly rub against the cornea and irritate it entropion is usually caused by genetic factors this is different from when an extra fold of skin on the lower eyelid causes lashes to turn in towards the eye epiblepharon in epiblepharons the eyelid margin itself is in the correct position but the extra fold of skin causes the lashes to be misdirected entropion can also create secondary pain of the eye leading to self trauma scarring of the eyelid or nerve damage the upper or lower eyelid can be involved and one or both eyes may be affected when entropion occurs in both eyes this is known as bilateral entropion repeated cases of trachoma in
ectropion
ectropion is a medical condition in which the lower eyelid turns outwards it is one of the notable aspects of newborns exhibiting congenital harlequin type ichthyosis but ectropion can occur due to any weakening of tissue of the lower eyelid the condition can be repaired surgically ectropion is also found in dogs as a genetic disorder in certain breeds
lagophthalmos
lagophthalmos is defined as the inability to close the eyelids completely blinking covers the eye with a thin layer of tear fluid thereby promoting a moist environment necessary for the cells of the exterior part of the eye the tears also flush out foreign bodies and wash them away this is crucial to maintain lubrication and proper eye health if this process is impaired as in lagophthalmos the eye can suffer abrasions and infections lagopthalmos leads to corneal drying and ulceration
dermatochalasis
dermatochalasis is a medical condition defined as an excess of skin in the upper or lower eyelid also known as baggy eyes it may be either an acquired or a congenital condition it is generally treated with blepharoplasty
ptosis eyelid
ptosis is a drooping or falling of the upper eyelid the drooping may be worse after being awake longer when the individual s muscles are tired this condition is sometimes called lazy eye but that term normally refers to amblyopia if severe enough and left untreated the drooping eyelid can cause other conditions such as amblyopia or astigmatism this is why it is especially important for this disorder to be treated in children at a young age before it can interfere with vision development the term is from greek ptosis blepharoptosis or πτῶσις to fall
blepharophimosis
blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size vertically and horizontally the nasal bridge is flat and there is hypoplastic orbital rim both the vertical and horizontal palpebral fissures eyelid opening are shortened vignes 1889 probably first described this entity a dysplasia of the eyelids
madarosis
madarosis is a condition that results in the loss of eyelashes sometimes eyebrows the term madarosis is greek for the word madao which means to fall off it originally was a disease of only losing eyelashes but it currently is the loss of both eyelashes and eyebrows eyebrows and eyelashes are both important in the prevention of bacteria and other foreign objects from entering the eye a majority of patients with madarosis have leprosy and it was reported that 76 of patients with varying types of leprosy had madarosis
dacryoadenitis
dacryoadenitis is inflammation of the lacrimal glands the tear producing glands
dacryocystitis
dacryocystitis is an infection of the lacrimal sac secondary to obstruction of the nasolacrimal duct at the junction of lacrimal sac the term derives from the greek dákryon tear cysta sac and itis inflammation it causes pain redness and swelling over the inner aspect of the lower eyelid and epiphora when nasolacrimal duct obstruction is secondary to a congenital barrier it is referred to as dacrocystocele it is most commonly caused by staphylococcus aureus and streptococcus pneumoniae the most common complication is corneal ulceration frequently in association with s pneumoniae the mainstays of treatment are oral antibiotics warm compresses and relief of nasolacrimal duct obstruction by dacryocystorhinostomy
exophthalmos
exophthalmos also called exophthalmus exophthalmia proptosis or exorbitism is a bulging of the eye anteriorly out of the orbit exophthalmos can be either bilateral as is often seen in graves disease or unilateral as is often seen in an orbital tumor complete or partial dislocation from the orbit is also possible from trauma or swelling of surrounding tissue resulting from trauma in the case of graves disease the displacement of the eye is due to abnormal connective tissue deposition in the orbit and extraocular muscles which can be visualized by ct or mri
enophthalmos
graves ophthalmopathy
graves ophthalmopathy also known as thyroid eye disease ted dysthyroid thyroid associated orbitopathy tao graves orbitopathy is an autoimmune inflammatory disorder affecting the orbit around the eye characterized by upper eyelid retraction lid lag swelling redness erythema conjunctivitis and bulging eyes exopthalmos the autoantibodies target the fibroblasts in the eye muscles and those fibroblasts can differentiate into fat cells adipocytes fat cells and muscles expand and become inflamed veins become compressed and are unable to drain fluid causing edema
graves ophthalmopathy also known as thyroid eye disease ted dysthyroid thyroid associated orbitopathy tao graves orbitopathy is an autoimmune inflammatory disorder affecting the orbit around the eye characterized by upper eyelid retraction lid lag swelling redness erythema conjunctivitis and bulging eyes exopthalmos it is part of a systemic process with variable expression in the eyes thyroid and skin caused by autoantibodies that bind to tissues in those organs and in general occurs with hyperthyroidism the most common form of hyperthyroidism is graves disease about 10 of cases do not have graves disease but do have autoantibodies the autoantibodies target the fibroblasts in the eye muscles and those fibroblasts can differentiate into fat cells adipocytes fat cells and muscles expand and become inflamed veins become compressed and are unable to drain fluid causing edema annual incidence is 16 100 000 in women 3 100 000 in men about 3 5 have severe disease with intense pain and sight threatening corneal ulceration or compression of the optic nerve cigarette smoking which is associated with many autoimmune diseases raises the incidence 7 7 fold mild disease will often resolve and merely requires measures to reduce discomfort and dryness such as artificial tears and smoking cessation if possible severe cases are a medical emergency and are treated with glucocorticoids steroids and sometimes ciclosporin many anti inflammatory biological mediators such as infliximab etanercept and anakinra are being tried but there are no randomized controlled trials demonstrating effectiveness
conjunctivitis
conjunctivitis also known as pink eye is inflammation of the outermost layer of the white part of the eye and the inner surface of the eyelid it makes the eye appear pink or reddish there may also be pain burning scratchiness or itchiness the affected eye may have increased tears or be stuck shut in the morning swelling of the white part of the eye may also occur itching of the eye is more common in cases due to allergies conjunctivitis can affect one or both eyes
conjunctivitis also known as pink eye is inflammation of the outermost layer of the white part of the eye and the inner surface of the eyelid it makes the eye appear pink or reddish there may also be pain burning scratchiness or itchiness the affected eye may have increased tears or be stuck shut in the morning swelling of the white part of the eye may also occur itching of the eye is more common in cases due to allergies conjunctivitis can affect one or both eyes the most common infectious causes are viral followed by bacterial the viral infection may occur along with other symptoms of a common cold viral and bacterial cases are easily spread between people allergies to pollen or animal hair is also a common cause diagnosis is often based on signs and symptoms occasionally a sample of the discharge is sent for culture prevention is partly by handwashing treatment depends on the underlying cause in the majority of viral cases there is no specific treatment most cases due to a bacterial infection will also resolve without treatment however antibiotics can shorten the illness those who wear contact lens and those with either gonorrhea or chlamydia as the cause should be treated allergic cases can be treated with antihistamine or mast cell inhibitor drops about 3 to 6 million people get conjunctivitis each year in the united states in adults viral causes are more common while in children bacterial causes are more common typically people get better in one or two weeks if there is visual loss significant pain sensitivity to light signs of herpes or a person is not improving after a week further diagnosis and treatment may be required conjunctivitis in a newborn known as neonatal conjunctivitis may also require specific treatment
pinguecula
pterygium conjunctiva
subconjunctival hemorrhage
subconjunctival hemorrhage also known as subconjunctival haemorrhage and hyposphagma is bleeding underneath the conjunctiva the conjunctiva contains many small fragile blood vessels that are easily ruptured or broken when this happens blood leaks into the space between the conjunctiva and sclera whereas a bruise typically appears black or blue underneath the skin a subconjunctival hemorrhage initially appears bright red underneath the transparent conjunctiva later the hemorrhage may spread and become green or yellow like a bruise usually this disappears within 2 weeks
subconjunctival hemorrhage also known as subconjunctival haemorrhage and hyposphagma is bleeding underneath the conjunctiva the conjunctiva contains many small fragile blood vessels that are easily ruptured or broken when this happens blood leaks into the space between the conjunctiva and sclera such a hemorrhage may be caused by a sudden or severe sneeze or cough or due to hypertension or as a side effect of blood thinners it may also be caused by heavy lifting vomiting or even rubbing one s eyes too roughly in other cases it may result from being choked or from straining due to constipation also it can result as a minor post operative complication in eye surgeries such as lasik whereas a bruise typically appears black or blue underneath the skin a subconjunctival hemorrhage initially appears bright red underneath the transparent conjunctiva later the hemorrhage may spread and become green or yellow like a bruise usually this disappears within 2 weeks although its appearance may be alarming in general a subconjunctival hemorrhage is a painless and harmless condition however it may be associated with high blood pressure trauma to the eye or a base of skull fracture if there is no posterior border of the hemorrhage visible
scleritis
keratitis
keratitis is a condition in which the eye s cornea the front part of the eye becomes inflamed the condition is often marked by moderate to intense pain and usually involves any of the following symptoms pain impaired eyesight photophobia red eye and a gritty sensation
corneal ulcer
corneal ulcer or ulcerative keratitis is an inflammatory or more seriously infective condition of the cornea involving disruption of its epithelial layer with involvement of the corneal stroma it is a common condition in humans particularly in the tropics and the agrarian societies in developing countries children afflicted by vitamin a deficiency are at high risk for corneal ulcer and may become blind in both eyes which may persist lifelong in ophthalmology a corneal ulcer usually refers to having an infectious etiology while the term corneal abrasion refers more to physical abrasions
thygeson s superficial punctate keratopathy
photokeratitis
photokeratitis or ultraviolet keratitis is a painful eye condition caused by exposure of insufficiently protected eyes to the ultraviolet uv rays from either natural e g intense sunlight or artificial e g the electric arc during welding sources photokeratitis is akin to a sunburn of the cornea and conjunctiva and is not usually noticed until several hours after exposure symptoms include increased tears and a feeling of pain likened to having sand in the eyes
photokeratitis or ultraviolet keratitis is a painful eye condition caused by exposure of insufficiently protected eyes to the ultraviolet uv rays from either natural e g intense sunlight or artificial e g the electric arc during welding sources photokeratitis is akin to a sunburn of the cornea and conjunctiva and is not usually noticed until several hours after exposure symptoms include increased tears and a feeling of pain likened to having sand in the eyes the injury may be prevented by wearing eye protection that blocks most of the ultraviolet radiation such as welding goggles with the proper filters a welder s helmet sunglasses rated for sufficient uv protection or appropriate snow goggles the condition is usually managed by removal from the source of ultraviolet radiation covering the corneas and administration of pain relief photokeratitis is known by a number of different terms including snow blindness arc eye welder s flash bake eyes corneal flash burns flash burns niphablepsia or keratoconjunctivitis photoelectrica
kayser – fleischer ring
arcus senilis
fuchs dystrophy
fuchs dystrophy pronounced fooks dis trə fe also known as fuchs corneal endothelial dystrophy or fced is a slowly progressing corneal dystrophy that usually affects both eyes and is slightly more common in women than in men although doctors can often see early signs of fuchs dystrophy in people in their 30 s and 40 s the disease rarely affects vision until people reach their 50 s and 60 s
keratoconus
keratoconus kc kcn ktcn is a degenerative disorder of the eye in which structural changes within the cornea cause it to thin and change to a more conical shape than the more normal gradual curve keratoconus can cause substantial distortion of vision with multiple images streaking and sensitivity to light all often reported by the person it is typically diagnosed in the person s adolescent years if both eyes are significantly affected the deterioration in vision can affect the person s ability to drive a car or read normal print
keratoconus kc kcn ktcn is a degenerative disorder of the eye in which structural changes within the cornea cause it to thin and change to a more conical shape than the more normal gradual curve keratoconus can cause substantial distortion of vision with multiple images streaking and sensitivity to light all often reported by the person it is typically diagnosed in the person s adolescent years if both eyes are significantly affected the deterioration in vision can affect the person s ability to drive a car or read normal print in most cases corrective lenses fitted by a specialist are effective enough to allow the person to continue to drive legally and likewise function normally further progression of the disease may require surgery for which several options are available including intrastromal corneal ring segments corneal collagen cross linking mini asymmetric radial keratotomy corneal intrastromal implantation system cisis topography guided photorefractive keratectomy prk topography guided conductive keratoplasty phakic intraocular lenses and in 25 of cases corneal transplantation estimates of the rates for keratoconus range from 1 in 500 to 1 in 2000 people but difficulties with differential diagnosis cause uncertainty it seems to occur in populations throughout the world although it is observed more frequently in certain ethnic groups such as south asians environmental and genetic factors are considered possible causes but the exact cause is uncertain it has been associated with detrimental enzyme activity within the cornea the word is from greek kéras horn cornea and latin cōnus cone
dry eye syndrome
dry eye syndrome des also known as keratoconjunctivitis sicca kcs is the condition of having dry eyes other associated symptoms include irritation redness discharge and easily fatigued eyes blurred vision may also occur the symptoms can range from mild and occasional to severe and continuous scarring of the cornea may occur in some cases without treatment
dry eye syndrome des also known as keratoconjunctivitis sicca kcs is the condition of having dry eyes other associated symptoms include irritation redness discharge and easily fatigued eyes blurred vision may also occur the symptoms can range from mild and occasional to severe and continuous scarring of the cornea may occur in some cases without treatment dry eye occurs when either the eye does not produce enough tears or when the tears evaporate too quickly this can result from meibomian gland dysfunction allergies pregnancy sjogren s syndrome vitamin a deficiency lasik surgery and certain medications such as antihistamines some blood pressure medication hormone replacement therapy and antidepressants chronic conjunctivitis such as from tobacco smoke exposure or infection may also lead to the condition diagnosis is mostly based on the symptoms though a number of other tests may be used treatment depends on the underlying cause artificial tears are the usual first line treatment wrap around glasses that fit close to the face may decrease tear evaporation stopping or changing certain medications may help the medication ciclosporin or steroid eye drops may be used in some cases another opinion is lacrimal plugs that prevent tears from draining from the surface of the eye dry eyes occasionally makes wearing contact lenses impossible dry eye syndrome is a common eye disease it affects 5 34 of people to some degree depending on the population looked at among older people it affects up to 70 in china it affects about 17 of people the phrase keratoconjunctivitis sicca means dryness of the cornea and conjunctiva in latin
uveitis
uveitis is the inflammation of the uvea the pigmented layer that lies between the inner retina and the outer fibrous layer composed of the sclera and cornea the uvea consists of the middle layer of pigmented vascular structures of the eye and includes the iris ciliary body and choroid uveitis is an ophthalmic emergency and requires a thorough examination by an optometrist or ophthalmologist and urgent treatment to control the inflammation
hyphema
hyphema or hyphaema see spelling differences is blood in the front anterior chamber of the eye it may appear as a reddish tinge or it may appear as a small pool of blood at the bottom of the iris or in the cornea
synechia eye
a synechia is an eye condition where the iris adheres to either the cornea i e anterior synechia or lens i e posterior synechia synechiae can be caused by ocular trauma iritis or iridocyclitis and may lead to certain types of glaucoma it is sometimes visible on careful examination but usually more easily through an ophthalmoscope or slit lamp
cataract
a cataract is a clouding of the lens in the eye leading to a decrease in vision it can affect one or both eyes often it develops slowly symptoms may include faded colors blurry vision halos around light trouble with bright lights and trouble seeing at night this may result in trouble driving reading or recognizing faces poor vision may also result in an increased risk of falling and depression cataracts are the cause of half of blindness and 33 of visual impairment worldwide
aphakia
aphakia is the absence of the lens of the eye due to surgical removal a perforating wound or ulcer or congenital anomaly it causes a loss of accommodation far sightedness hyperopia and a deep anterior chamber complications include detachment of the vitreous or retina and glaucoma people with aphakia have relatively small pupils and their pupils dilate to a lesser degree
aphakia is the absence of the lens of the eye due to surgical removal a perforating wound or ulcer or congenital anomaly it causes a loss of accommodation far sightedness hyperopia and a deep anterior chamber complications include detachment of the vitreous or retina and glaucoma babies are rarely born with aphakia occurrence most often results from surgery to remove congenital cataracts clouding of the eyes lens which can block light from entering the eye and focusing clearly congenital cataracts usually develop as a result of infection of the fetus or genetic reasons it is often difficult to identify the exact cause of these cataracts especially if only one eye is affected people with aphakia have relatively small pupils and their pupils dilate to a lesser degree
ectopia lentis
retinitis
retinal detachment
retinal detachment is a disorder of the eye in which the retina separates from the layer underneath symptoms include an increase in the number of floaters flashes of light and worsening of the outer part of the visual field this may be described as a curtain over part of the field of vision in about 7 of cases both eyes are affected without treatment permanent loss of vision may occur
retinoschisis
central retinal vein occlusion
the central retinal vein is the venous equivalent of the central retinal artery and like that blood vessel it can suffer from occlusion central retinal vein occlusion also crvo similar to that seen in ocular ischemic syndrome since the central retinal artery and vein are the sole source of blood supply and drainage for the retina such occlusion can lead to severe damage to the retina and blindness due to ischemia restriction in blood supply and edema swelling it can also cause glaucoma
hypertensive retinopathy
hypertensive retinopathy is damage to the retina and retinal circulation due to high blood pressure i e hypertension
coats disease
retinopathy of prematurity
retinopathy of prematurity rop or terry syndrome previously known as retrolental fibroplasia rlf is a disease of the eye affecting prematurely born babies generally having received intensive neonatal care in which oxygen therapy is used on them due to the premature development of their lungs it is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and retinal detachment rop can be mild and may resolve spontaneously but it may lead to blindness in serious cases as such all preterm babies are at risk for rop and very low birth weight is an additional risk factor both oxygen toxicity and relative hypoxia can contribute to the development of rop
macular degeneration
macular degeneration also known as age related macular degeneration amd or armd is a medical condition which may result in blurred or no vision in the center of the visual field early on there are often no symptoms over time however some people experience a gradual worsening of vision that may affect one or both eyes while it does not result in complete blindness loss of central vision can make it hard to recognize faces drive read or perform other activities of daily life visual hallucinations may also occur but these do not represent a mental illness
drusen
leber s congenital amaurosis
leber s congenital amaurosis lca is a rare inherited eye disease that appears at birth or in the first few months of life and affects around 1 in 80 000 of the population one form of lca became well known in the scientific community following its successful treatment with gene therapy in 2008 lca was first described by theodor leber in the 19 th century it should not be confused with leber s hereditary optic neuropathy which is a different disease also described by theodor leber
usher syndrome
usher syndrome is an extremely rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment and is a leading cause of deafblindness usher syndrome is incurable at present other names for usher syndrome include hallgren syndrome usher hallgren syndrome retinitis pigmentosa dysacusis syndrome and dystrophia retinae dysacusis syndrome
retinitis pigmentosa
retinitis pigmentosa rp is an inherited degenerative eye disease that causes severe vision impairment due to the progressive degeneration of the rod photoreceptor cells in the retina this form of retinal dystrophy manifests initial symptoms independent of age thus rp diagnosis occurs anywhere from early infancy to late adulthood patients in the early stages of rp first notice compromised peripheral and dim light vision due to the decline of the rod photoreceptors the progressive rod degeneration is later followed by abnormalities in the adjacent retinal pigment epithelium rpe and the deterioration of cone photoreceptor cells as peripheral vision becomes increasingly compromised patients experience progressive tunnel vision and eventual blindness affected individuals may addi
retinitis pigmentosa rp is an inherited degenerative eye disease that causes severe vision impairment due to the progressive degeneration of the rod photoreceptor cells in the retina this form of retinal dystrophy manifests initial symptoms independent of age thus rp diagnosis occurs anywhere from early infancy to late adulthood patients in the early stages of rp first notice compromised peripheral and dim light vision due to the decline of the rod photoreceptors the progressive rod degeneration is later followed by abnormalities in the adjacent retinal pigment epithelium rpe and the deterioration of cone photoreceptor cells as peripheral vision becomes increasingly compromised patients experience progressive tunnel vision and eventual blindness affected individuals may additionally experience defective light dark adaptations nyctalopia night blindness and the accumulation of bone spicules in the fundus
stargardt disease
stargardt disease or fundus flavimaculatus is an inherited form of juvenile macular degeneration that causes progressive vision loss usually to the point of legal blindness several genes are associated with the disorder symptoms mainly vision loss typically develop before age 20 and also include wavy vision blind spots blurriness impaired color vision and difficulty adapting to dim lighting
stargardt disease or fundus flavimaculatus is an inherited form of juvenile macular degeneration that causes progressive vision loss usually to the point of legal blindness several genes are associated with the disorder symptoms mainly vision loss typically develop before age 20 and also include wavy vision blind spots blurriness impaired color vision and difficulty adapting to dim lighting stargardt s disease is often used to refer to any juvenile macular dystrophy however it properly refers to atrophic macular dystrophy with yellow poorly defined flecks surrounding the macula in the retinal pigment epithelium
cone dystrophy
a cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells the photoreceptors responsible for both central and color vision the most common symptoms of cone dystrophy are vision loss age of onset ranging from the late teens to the sixties sensitivity to bright lights and poor color vision therefore patients see better at dusk visual acuity usually deteriorates gradually but it can deteriorate rapidly to 20 200 later in more severe cases it drops to counting fingers vision color vision testing using color test plates hrr series reveals many errors on both red green and blue yellow plates
central serous retinopathy
central serous retinopathy csr also known as central serous chorioretinopathy csc or cscr is an eye disease which causes visual impairment often temporary usually in one eye when the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula this results in blurred or distorted vision metamorphopsia a blurred or gray spot in the central visual field is common when the retina is detached reduced visual acuity may persist after the fluid has disappeared
macular edema
macular edema occurs when fluid and protein deposits collect on or under the macula of the eye a yellow central area of the retina and causes it to thicken and swell edema the swelling may distort a person s central vision because the macula holds tightly packed cones that provide sharp clear central vision to enable a person to see detail form and color that is directly in the centre of the field of view
diabetic retinopathy
diabetic retinopathy ˌrɛtnˈɑpəθi also known as diabetic eye disease is when damage occurs to the retina due to diabetes it can eventually lead to blindness it is an ocular manifestation of diabetes a systemic disease which affects up to 80 percent of all patients who have had diabetes for 20 years or more despite these intimidating statistics research indicates that at least 90 of these new cases could be reduced if there were proper and vigilant treatment and monitoring of the eyes the longer a person has diabetes the higher his or her chances of developing diabetic retinopathy each year in the united states diabetic retinopathy accounts for 12 of all new cases of blindness it is also the leading cause of blindness for people aged 20 to 64 years
glaucoma
glaucoma is a group of eye diseases which result in damage to the optic nerve and vision loss the most common type is open angle glaucoma with less common types including closed angle glaucoma and normal tension glaucoma open angle glaucoma develops slowly over time and there is no pain side vision may begin to decrease followed by central vision resulting in blindness if not treated closed angle glaucoma can present gradually or suddenly the sudden presentation may involve severe eye pain blurred vision mid dilated pupil redness of the eye and nausea vision loss from glaucoma once it has occurred is permanent
glaucoma is a group of eye diseases which result in damage to the optic nerve and vision loss the most common type is open angle glaucoma with less common types including closed angle glaucoma and normal tension glaucoma open angle glaucoma develops slowly over time and there is no pain side vision may begin to decrease followed by central vision resulting in blindness if not treated closed angle glaucoma can present gradually or suddenly the sudden presentation may involve severe eye pain blurred vision mid dilated pupil redness of the eye and nausea vision loss from glaucoma once it has occurred is permanent risk factors for glaucoma include increased pressure in the eye a family history of the condition migraines high blood pressure and obesity for eye pressures a value of greater than 21 mmhg or 2 8 kpa is often used with higher pressures leading to a greater risk however some may have high eye pressure for years and never develop damage conversely optic nerve damage may occur with normal pressure known as normal tension glaucoma the mechanism of open angle glaucoma is believed to be slow exit of aqueous humor through the trabecular meshwork while in closed angle glaucoma the iris blocks the trabecular meshwork diagnosis is by a dilated eye examination often the optic nerve shows an abnormal amount of cupping if treated early it is possible to slow or stop the progression of disease with medication laser treatment or surgery the goal of these treatments is to decrease eye pressure a number of different classes of glaucoma medication are available laser treatments may be effective in both open angle and closed angle glaucoma a number of types of glaucoma surgeries may be used in people who do not respond sufficiently to other measures treatment of closed angle glaucoma is a medical emergency about eleven to sixty seven million people have glaucoma globally the disease affects about two million people in the united states it occurs more commonly among older people closed angle glaucoma is more common in women glaucoma has been called the silent thief of sight because the loss of vision usually occurs slowly over a long period of time worldwide glaucoma is the second leading cause of blindness after cataracts the word glaucoma is from ancient greek glaukos which means blue green or gray in english the word was used as early as 1587 but did not become commonly used until after 1850 when the development of the ophthalmoscope allowed people to see the optic nerve damage
vitreous hemorrhage
vitreous hemorrhage is the extravasation or leakage of blood into the areas in and around the vitreous humor of the eye the vitreous humor is the clear gel that fills the space between the lens and the retina of the eye a variety of conditions can result in blood leaking into the vitreous humor which can cause impaired vision floaters and photopsia
asteroid hyalosis
asteroid hyalosis is a degenerative condition of the eye involving small white opacities in the vitreous humor it is known to occur in humans dogs cats and chinchillas clinically these opacities are quite refractile giving the appearance of stars or asteroids shining in the night sky — except that ocular asteroids are often quite mobile ocular asteroids must be distinguished from the more common typical vitreous floaters which are usually fibrillar or cellular condensates the cause of asteroid hyalosis is unknown but it has been associated with diabetes mellitus hypertension hypercholesterolemia and in certain animals tumors of the ciliary body in dogs asteroid hyalosis is considered to be an age related change the asteroid bodies are made up of hydroxylapatite which in
asteroid hyalosis is a degenerative condition of the eye involving small white opacities in the vitreous humor it is known to occur in humans dogs cats and chinchillas clinically these opacities are quite refractile giving the appearance of stars or asteroids shining in the night sky — except that ocular asteroids are often quite mobile ocular asteroids must be distinguished from the more common typical vitreous floaters which are usually fibrillar or cellular condensates the cause of asteroid hyalosis is unknown but it has been associated with diabetes mellitus hypertension hypercholesterolemia and in certain animals tumors of the ciliary body in dogs asteroid hyalosis is considered to be an age related change the asteroid bodies are made up of hydroxylapatite which in turn consists of calcium and phosphates or phospholipids while asteroid hyalosis does not usually severely affect vision the floating opacities can be quite annoying and may interfere significantly with visualization and testing of the retina while treatment of asteroid hyalosis is usually unnecessary vitrectomy may occasionally be indicated for both diagnostic and therapeutic purposes
floater
floaters are deposits of various size shape consistency refractive index and motility within the eye s vitreous humour which is normally transparent at a young age the vitreous istransparent but as one ages imperfections gradually develop the common type of floater which is present in most persons eyes is due to degenerative changes of the vitreous humour the perception of floaters is known as myodesopsia or less commonly as myodaeopsia myiodeopsia or myiodesopsia they are also called muscae volitantes latin flying flies or mouches volantes from the french floaters are visible because of the shadows they cast on the retina or refraction of the light that passes through them and can appear alone or together with several others in one s visual field they may appe
floaters are deposits of various size shape consistency refractive index and motility within the eye s vitreous humour which is normally transparent at a young age the vitreous istransparent but as one ages imperfections gradually develop the common type of floater which is present in most persons eyes is due to degenerative changes of the vitreous humour the perception of floaters is known as myodesopsia or less commonly as myodaeopsia myiodeopsia or myiodesopsia they are also called muscae volitantes latin flying flies or mouches volantes from the french floaters are visible because of the shadows they cast on the retina or refraction of the light that passes through them and can appear alone or together with several others in one s visual field they may appear as spots threads or fragments of cobwebs which float slowly before the observer s eyes as these objects exist within the eye itself they are not optical illusions but are entoptic phenomena they are not to be confused with visual snow although these two conditions may co exist
endophthalmitis
endophthalmitis is an inflammation of the internal coats of the eye it is a possible complication of all intraocular surgeries particularly cataract surgery with possible loss of vision and the eye itself infectious aetiology is the most common and various bacteria and fungi have been isolated as the cause of the endophthalmitis other causes include penetrating trauma allergic reaction and retained intraocular foreign bodies intravitreal injections expose patients to the risk of endophthalmitis but with an incidence rate usually less than 05
sympathetic ophthalmia
phthisis bulbi
phthisis bulbi is a shrunken non functional eye it may result from severe eye disease inflammation injury or it may represent a complication of eye surgery treatment options include insertion of a prosthesis which may be preceded by enucleation of the eye
optic neuritis
anterior ischemic optic neuropathy
anterior ischemic optic neuropathy aion is a medical condition involving loss of vision due to damage to the optic nerve from insufficient blood supply aion is generally divided into two types arteritic aion or aaion and non arteritic aion naion or simply aion this article will focus primarily on non arteritic aion
papilledema
papilledema or papilloedema is optic disc swelling that is caused by increased intracranial pressure the swelling is usually bilateral and can occur over a period of hours to weeks unilateral presentation is extremely rare papilledema is mostly seen as a symptom resulting from another pathophysiological process
papilledema or papilloedema is optic disc swelling that is caused by increased intracranial pressure the swelling is usually bilateral and can occur over a period of hours to weeks unilateral presentation is extremely rare papilledema is mostly seen as a symptom resulting from another pathophysiological process in intracranial hypertension papilledema most commonly occurs bilaterally when papilledema is found on fundoscopy further evaluation is warranted as vision loss can result if the underlying condition is not treated further evaluation with a ct or mri of the brain and or spine is usually performed recentresearch has shown that point of care ultrasound can be used to measure optic nerve sheath diameter for detection of increased intracranial pressure andshows good diagnostic test accuracy compared to ct thus ifthere is a question of papilledema on fundoscopic examination or if the opticdisc cannot be adequately visualized ultrasound can be used to rapidly assessfor increased intracranial pressure and help direct further evaluation andintervention unilateral papilledema can suggest a disease in the eye itself such as an optic nerve glioma
leber s hereditary optic neuropathy
leber ’ s hereditary optic neuropathy lhon or leber optic atrophy is a mitochondrially inherited transmitted from mother to offspring degeneration of retinal ganglion cells rgcs and their axons that leads to an acute or subacute loss of central vision this affects predominantly young adult males lhon is only transmitted through the mother as it is primarily due to mutations in the mitochondrial not nuclear genome and only the egg contributes mitochondria to the embryo lhon is usually due to one of three pathogenic mitochondrial dna mtdna point mutations these mutations are at nucleotide positions 11778 g to a 3460 g to a and 14484 t to c respectively in the nd 4 nd 1 and nd 6 subunit genes of complex i of the oxidative phosphorylation chain in mitochondria men cannot pass on
leber ’ s hereditary optic neuropathy lhon or leber optic atrophy is a mitochondrially inherited transmitted from mother to offspring degeneration of retinal ganglion cells rgcs and their axons that leads to an acute or subacute loss of central vision this affects predominantly young adult males lhon is only transmitted through the mother as it is primarily due to mutations in the mitochondrial not nuclear genome and only the egg contributes mitochondria to the embryo lhon is usually due to one of three pathogenic mitochondrial dna mtdna point mutations these mutations are at nucleotide positions 11778 g to a 3460 g to a and 14484 t to c respectively in the nd 4 nd 1 and nd 6 subunit genes of complex i of the oxidative phosphorylation chain in mitochondria men cannot pass on the disease to their offspring
optic disc drusen
optic disc drusen odd or optic nerve head drusen onhd are globules of mucoproteins and mucopolysaccharides that progressively calcify in the optic disc they are thought to be the remnants of the axonal transport system of degenerated retinal ganglion cells odd have also been referred to as congenitally elevated or anomalous discs pseudopapilledema pseudoneuritis buried disc drusen and disc hyaline bodies they may be associated with vision loss of varying degree occasionally resulting in blindness
cortical blindness
cortical blindness is the total or partial loss of vision in a normal appearing eye caused by damage to the brain s occipital cortex cortical blindness can be acquired or congenital and may also be transient in certain instances acquired cortical blindness is most often caused by loss of blood flow to the occipital cortex from either unilateral or bilateral posterior cerebral artery blockage ischemic stroke and by cardiac surgery in most cases the complete loss of vision is not permanent and the patient may recover some of their vision cortical visual impairment congenital cortical blindness is most often caused by perinatal ischemic stroke encephalitis and meningitis rarely a patient with acquired cortical blindness may have little or no insight that they have lost vision a
cortical blindness is the total or partial loss of vision in a normal appearing eye caused by damage to the brain s occipital cortex cortical blindness can be acquired or congenital and may also be transient in certain instances acquired cortical blindness is most often caused by loss of blood flow to the occipital cortex from either unilateral or bilateral posterior cerebral artery blockage ischemic stroke and by cardiac surgery in most cases the complete loss of vision is not permanent and the patient may recover some of their vision cortical visual impairment congenital cortical blindness is most often caused by perinatal ischemic stroke encephalitis and meningitis rarely a patient with acquired cortical blindness may have little or no insight that they have lost vision a phenomenon known as anton – babinski syndrome cortical blindness and cortical visual impairment cvi which refers to the partial loss of vision caused by cortical damage are both classified as subsets of neurological visual impairment nvi nvi and its three subtypes — cortical blindness cortical visual impairment and delayed visual maturation — must be distinguished from ocular visual impairment in terms of their different etiologies and structural foci the brain and the eye respectively one diagnostic marker of this distinction is that the pupils of individuals with cortical blindness will respond to light whereas those of individuals with ocular visual impairment will not
chronic progressive external ophthalmoplegia
chronic progressive external ophthalmoplegia cpeo also known as progressive external ophthalmoplegia peo is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows it is often the only feature of mitochondrial disease in which case the term cpeo may be given as the diagnosis in other people suffering from mitochondrial disease cpeo occurs as part of a syndrome involving more than one part of the body such as kearns sayre syndrome occasionally cpeo may be caused by conditions other than mitochondrial diseases
strabismus
strabismus also called crossed eyes is a condition in which the eyes do not properly align with each other when looking at an object which eye is focused on the object in question can switch it may also be present occasionally or constantly if present during a large part of childhood amblyopia may result and depth perception may be lost adults may have double vision
strabismus also called crossed eyes is a condition in which the eyes do not properly align with each other when looking at an object which eye is focused on the object in question can switch it may also be present occasionally or constantly if present during a large part of childhood amblyopia may result and depth perception may be lost adults may have double vision strabismus can occur due to muscle dysfunction farsightedness problems in the brain trauma or infections risk factors include premature birth cerebral palsy and a family history of the condition types include esotropia where the eyes are crossed exotropia where the eyes diverge and hypertropia where they are vertically misaligned they can also be classified by whether the problem is present in all directions a person looks comitant or varies by direction incomitant diagnosis may be by looking at the light reflecting from the eyes and finding it is not centered on the pupil another condition that produces similar symptoms is a cranial nerve palsy treatment depends on the type of strabismus and the underlying cause this may include the use of glasses and possibly surgery some types benefit from early surgery strabismus occurs in about 2 of children the term is from the greek strabismós meaning to squint other terms for the condition include squint wall eye and cast of the eye
heterophoria
heterophoria is an eye condition in which the directions that the eyes are pointing at rest position when not performing binocular fusion are not the same as each other or not straight there can be esophoria where the eyes tend to cross inward in the absence of fusion exophoria in which they diverge or hyperphoria in which one eye points up or down relative to the other phorias are known as latent squint because the tendency of the eyes to deviate is kept latent by fusion a person with two normal eyes has single vision usually because of the combined use of the sensory and motor systems the motor system acts to point both eyes at the target of interest any offset is detected visually and the motor system corrects it heterophoria only occurs during dissociation of the
heterophoria is an eye condition in which the directions that the eyes are pointing at rest position when not performing binocular fusion are not the same as each other or not straight there can be esophoria where the eyes tend to cross inward in the absence of fusion exophoria in which they diverge or hyperphoria in which one eye points up or down relative to the other phorias are known as latent squint because the tendency of the eyes to deviate is kept latent by fusion a person with two normal eyes has single vision usually because of the combined use of the sensory and motor systems the motor system acts to point both eyes at the target of interest any offset is detected visually and the motor system corrects it heterophoria only occurs during dissociation of the left eye and right eye when fusion of the eyes is absent if you cover one eye e g with your hand you remove the sensory information about the eye s position in the orbit without this there is no stimulus to binocular fusion and the eye will move to a position of rest the difference between this position and where it would be were the eye uncovered is the heterophoria the opposite of heterophoria where the eyes are straight when relaxed and not fusing does not have an accepted term but might be called homeophoria or simply normal in contrast fixation disparity is a very small deviation of the pointing directions of the eyes that is present while performing binocular fusion heterophoria is usually asymptomatic this is when it is said to be compensated when fusional reserve is used to compensate for heterophoria it is known as compensating vergence in severe cases when the heterophoria is not overcome by fusional vergence sign and symptoms appear this is called decompensated heterophoria heterophoria may lead to squint or also known as strabismus
brown s syndrome
brown s syndrome is a rare form of strabismus characterized by limited elevation of the affected eye the disorder may be congenital existing at or before birth or acquired brown syndrome is caused by a malfunction of the superior oblique muscle causing the eye to have difficulty moving up particularly during adduction when eye turns towards the nose harold w brown first described the disorder in 1950 and initially named it the superior oblique tendon sheath syndrome
duane syndrome
duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outwards the syndrome was first described by ophthalmologists jakob stilling 1887 and siegmund türk 1896 and subsequently named after alexander duane who discussed the disorder in more detail in 1905 other names for this condition include duane s retraction syndrome eye retraction syndrome retraction syndrome congenital retraction syndrome and stilling türk duane syndrome
conjugate gaze palsy
conjugate gaze palsies are neurological disorders affecting the ability to move both eyes in the same direction these palsies can affect gaze in a horizontal upward or downward direction these entities overlap with ophthalmoparesis and ophthalmoplegia
internuclear ophthalmoplegia
oculogyric crisis
oculogyric crisis ogc is the name of a dystonic reaction to certain drugs or medical conditions characterized by a prolonged involuntary upward deviation of the eyes the term oculogyric refers to the bilateral elevation of the visual gaze but several other responses are associated with the crisis epilepsy can manifest as oculogyric seizures also called versive seizures
far sightedness
far sightedness also known as hyperopia is a condition of the eye where light focuses behind instead of on the retina this causes close objects to be blurry while far objects may appear normal as the disease worsens objects at all distances may be blurry other symptoms may include headaches and eye strain people with hyperopia can also experience accommodative dysfunction binocular dysfunction amblyopia and strabismus far sightedness primarily affects young children with rates of 8 at 6 years and 1 at 15 years
far sightedness also known as hyperopia is a condition of the eye where light focuses behind instead of on the retina this causes close objects to be blurry while far objects may appear normal as the disease worsens objects at all distances may be blurry other symptoms may include headaches and eye strain people with hyperopia can also experience accommodative dysfunction binocular dysfunction amblyopia and strabismus the cause is an imperfection in the eye often when the eyeball is too short or the lens cannot become round enough causing the eye to not have enough power to see close or nearby objects it is a type of refractive error correction is usually achieved by the use of convex corrective lenses for near objects the eye has to accommodate even more depending on the amount of hyperopia and the age of the person which directly relates to the eye s accommodative ability the symptoms can be different far sightedness primarily affects young children with rates of 8 at 6 years and 1 at 15 years
refractive error
refractive error also known as refraction error is a problem with focusing of light on the retina due to the shape of the eye the most common types of refractive error are near sightedness far sightedness astigmatism and presbyopia near sightedness results in far objects being blurry far sightedness result in close objects being blurry astigmatism causes objects to appear stretched out or blurry and presbyopia results in a poor ability to focus on close objects other symptoms may include double vision headaches and eye strain
refractive error also known as refraction error is a problem with focusing of light on the retina due to the shape of the eye the most common types of refractive error are near sightedness far sightedness astigmatism and presbyopia near sightedness results in far objects being blurry far sightedness result in close objects being blurry astigmatism causes objects to appear stretched out or blurry and presbyopia results in a poor ability to focus on close objects other symptoms may include double vision headaches and eye strain near sightedness is due to the length of the eyeball being too long far sightedness the eyeball too short astigmatism the cornea being the wrong shape and presbyopia aging of the lens of the eye such that it cannot change shape sufficiently some refractive errors are inherited from a person s parents diagnosis is by eye examination refractive errors are corrected with eyeglasses contact lenses or surgery eyeglasses are the easiest and safest method of correction contact lenses can provide a wider field of vision however are associated with a risk of infection refractive surgery permanently changes the shape of the cornea the number of people globally with refractive errors has been estimated at one to two billion rates vary between regions of the world with about 25 of europeans and 80 of asians affected near sightedness is the most common disorder rates among adults are between 15 49 while rates among children are between 1 2 42 far sightedness more commonly affects young child and the elderly presbyopia affects most people over the age of 35 the number of people with refractive errors that have not been corrected was estimated at 660 million 10 per 100 people in 2013 of these 9 5 million were blind due to the refractive error it is one of the most common causes of vision loss along with cataracts macular degeneration and vitamin a deficiency
near sightedness
near sightedness also known as short sightedness and myopia is a condition of the eye where light focuses in front instead of on the retina this causes distant objects to be blurry while close objects appear normal other symptoms may include headaches and eye strain severe near sightedness increases the risk of retinal detachment cataracts and glaucoma
near sightedness also known as short sightedness and myopia is a condition of the eye where light focuses in front instead of on the retina this causes distant objects to be blurry while close objects appear normal other symptoms may include headaches and eye strain severe near sightedness increases the risk of retinal detachment cataracts and glaucoma the underlying cause is believed to be a combination of genetic and environmental factors risk factors include doing work that involves focusing on close objects greater time spent indoors and a family history of the condition it is also associated with a high socioeconomic class the underlying mechanism involves the length of the eyeball being too long or less commonly the lens being too strong it is a type of refractive error diagnosis is by eye examination there is tentative evidence that near sightedness can be prevented by having young children spend more time outside this may be related to natural light exposure near sightedness can be corrected with eyeglasses contact lenses or surgery eyeglasses are the easiest and safest method of correction contact lenses can provide a wider field of vision however are associated with a risk of infection refractive surgery permanently changes the shape of the cornea near sightedness is the most common eye problem and is estimated to affect 1 5 billion people 22 of the population rates vary significantly in different areas of the world rates among adults are between 15 and 49 rates are similar in males and females among children it affect 1 2 of rural nepalese 4 of south africans 12 of americans and 37 in some large chinese cities rates have increased since the 1950 s uncorrected near sightedness is one of the most common causes of vision loss globally along with cataracts macular degeneration and vitamin a deficiency
astigmatism
astigmatism is a type of refractive error in which the eye does not focus light evenly on the retina this results in distorted or blurred vision at all distances other symptoms can include eyestrain headaches and trouble driving at night if it occurs early in life it can result in amblyopia the cause of astigmatism is unclear it is believed to be partly related to genetic factors the underlying mechanism involves an irregular curvature of the cornea or abnormalities in the lens of the eye diagnosis is by an eye exam
astigmatism is a type of refractive error in which the eye does not focus light evenly on the retina this results in distorted or blurred vision at all distances other symptoms can include eyestrain headaches and trouble driving at night if it occurs early in life it can result in amblyopia the cause of astigmatism is unclear it is believed to be partly related to genetic factors the underlying mechanism involves an irregular curvature of the cornea or abnormalities in the lens of the eye diagnosis is by an eye exam three options exist for the treatment glasses contact lenses and surgery glasses are the simplest contact lenses can provide a wider field of vision refractive surgery permanently changes the shape of the eye in europe and asia astigmatism affects between 30 and 60 of adults people of all ages can be affected astigmatism was first reported by thomas young in the early 1800 s
anisometropia
anisometropia is the condition in which the two eyes have unequal refractive power each eye can be nearsighted myopia farsighted hyperopia or a combination of both which is called antimetropia generally a difference in power of two diopters or more is the accepted threshold to label the condition anisometropia the name is from four greek components an not iso same metr measure ops eye estimated 6 of subjects aged 6 to 18 have anisometropia
aniseikonia
presbyopia
presbyopia is a condition associated with aging of the eye that results in progressively worsening ability to focus clearly on close objects symptoms include a hard time reading small print having to hold reading material farther away headaches and eyestrain different people will have different degrees of problems other types of refractive errors may exist at the same time as presbyopia treatment is typically with eye glasses the eyeglasses used have higher focusing power in the lower portion of the lens off the shelf reading glasses may be sufficient for some
amblyopia
amblyopia also called lazy eye is a disorder of sight due to the eye and brain not working well together it results in decreased vision in an eye that otherwise typically appears normal it is the most common cause of decreased vision in a single eye among children and younger adults
photophobia
photophobia is a symptom of abnormal intolerance to visual perception of light as a medical symptom photophobia is not a morbid fear or phobia but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes though the term is sometimes additionally applied to abnormal or irrational fear of light such as heliophobia the term photophobia comes from the greek φῶς phōs meaning light and φόβος phobos meaning fear
eye strain
eye strain also known as asthenopia is an eye condition that manifests itself through nonspecific symptoms such as fatigue pain in or around the eyes blurred vision headache and occasional double vision symptoms often occur after reading computer work or other close activities that involve tedious visual tasks
diplopia
diplopia commonly known as double vision is the simultaneous perception of two images of a single object that may be displaced horizontally vertically diagonally i e both vertically and horizontally or rotationally in relation to each other it is usually the result of impaired function of the extraocular muscles eoms where both eyes are still functional but they cannot converge to target the desired object problems with eoms may be due to mechanical problems disorders of the neuromuscular junction disorders of the cranial nerves iii iv and vi that stimulate the muscles and occasionally disorders involving the supranuclear oculomotor pathways or ingestion of toxins
diplopia commonly known as double vision is the simultaneous perception of two images of a single object that may be displaced horizontally vertically diagonally i e both vertically and horizontally or rotationally in relation to each other it is usually the result of impaired function of the extraocular muscles eoms where both eyes are still functional but they cannot converge to target the desired object problems with eoms may be due to mechanical problems disorders of the neuromuscular junction disorders of the cranial nerves iii iv and vi that stimulate the muscles and occasionally disorders involving the supranuclear oculomotor pathways or ingestion of toxins diplopia can be one of the first signs of a systemic disease particularly to a muscular or neurological process and it may disrupt a person ’ s balance movement and or reading abilities
anopsia
quadrantanopia
hemianopsia
scotoma
a scotoma greek σκότος skótos darkness plural scotomas or scotomata is an area of partial alteration in the field of vision consisting of a partially diminished or entirely degenerated visual acuity that is surrounded by a field of normal – or relatively well preserved – vision a scotoma can be a symptom of damage to any part of the visual system such as retinal damage from exposure to high powered lasers macular degeneration and brain damage
a scotoma greek σκότος skótos darkness plural scotomas or scotomata is an area of partial alteration in the field of vision consisting of a partially diminished or entirely degenerated visual acuity that is surrounded by a field of normal – or relatively well preserved – vision every normal mammal eye has a scotoma in its field of vision usually termed its blind spot this is a location with no photoreceptor cells where the retinal ganglion cell axons that compose the optic nerve exit the retina this location is called the optic disc there is no direct conscious awareness of visual scotomas they are simply regions of reduced information within the visual field rather than recognizing an incomplete image patients with scotomas report that things disappear on them the presence of the blind spot scotoma can be demonstrated subjectively by covering one eye carefully holding fixation with the open eye and placing an object such as one s thumb in the lateral and horizontal visual field about 15 degrees from fixation see the blind spot article the size of the monocular scotoma is 5 × 7 degrees of visual angle a scotoma can be a symptom of damage to any part of the visual system such as retinal damage from exposure to high powered lasers macular degeneration and brain damage the term scotoma is also used metaphorically in several fields the common theme of all the figurative senses is of a gap not in visual function but in the mind s perception cognition or world view
dichromacy
dichromacy di meaning two and chroma meaning color is the state of having two types of functioning color receptors called cone cells in the eyes organisms with dichromacy are called dichromats dichromats can match any color they see with a mixture of no more than two pure spectral lights by comparison trichromats require three pure spectral lights to match all colors that they can perceive and tetrachromats require four
dichromacy di meaning two and chroma meaning color is the state of having two types of functioning color receptors called cone cells in the eyes organisms with dichromacy are called dichromats dichromats can match any color they see with a mixture of no more than two pure spectral lights by comparison trichromats require three pure spectral lights to match all colors that they can perceive and tetrachromats require four dichromacy in humans is a color vision defect in which one of the three basic color mechanisms is absent or not functioning it is hereditary and sex linked predominantly affecting males dichromacy occurs when one of the cone pigments is missing and color is reduced to two dimensions
color blindness
color blindness also known as color vision deficiency is the decreased ability to see color or differences in color color blindness can make some educational activities difficult buying fruit picking clothing and reading traffic lights can also be more challenging problems however are generally minor and most people adapt people with total color blindness may also have decreased visual acuity and be uncomfortable in bright environments
color blindness also known as color vision deficiency is the decreased ability to see color or differences in color color blindness can make some educational activities difficult buying fruit picking clothing and reading traffic lights can also be more challenging problems however are generally minor and most people adapt people with total color blindness may also have decreased visual acuity and be uncomfortable in bright environments the most common cause of color blindness is a fault in the development of one or more of the three sets of color sensing cones in the eye males are more likely to be color blind than females as the genes responsible for the most common forms of color blindness are on the x chromosome as females have two x chromosomes a defect in one is typically compensated for by the other while males only have one x chromosome color blindness can also result from physical or chemical damage to the eye optic nerve or parts of the brain diagnosis is typically with the ishihara color test however a number of other testing methods also exist there is no cure for color blindness diagnosis may allow a person s teacher to change their method of teaching to accommodate the decreased ability to recognize color special lenses may help people with red green color blindness when under bright conditions there are also mobile apps that can help people identify colors red green color blindness is the most common form followed by blue yellow color blindness and total color blindness red green color blindness affects up to 8 of males and 0 5 of females of northern european descent the ability to see color also decreases in old age being color blind may make people ineligible for certain jobs in certain countries this may include pilot train driver and armed forces the effect of color blindness on artistic ability however is controversial the ability to draw appears to be unchanged and a number of famous artists are believed to have been color blind
achromatopsia
achromatopsia achm also known as total color blindness is a medical syndrome that exhibits symptoms relating to at least five conditions the term may refer to acquired conditions such as cerebral achromatopsia also known as color agnosia but it typically refers to an autosomal recessive congenital color vision condition the inability to perceive color and to achieve satisfactory visual acuity at high light levels typically exterior daylight the syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia it is estimated to affect 1 in 40 000 live births worldwide
achromatopsia achm also known as total color blindness is a medical syndrome that exhibits symptoms relating to at least five conditions the term may refer to acquired conditions such as cerebral achromatopsia also known as color agnosia but it typically refers to an autosomal recessive congenital color vision condition the inability to perceive color and to achieve satisfactory visual acuity at high light levels typically exterior daylight the syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia it is estimated to affect 1 in 40 000 live births worldwide there is some discussion as to whether achromats can see color or not as illustrated in the island of the colorblind by oliver sacks some achromats cannot see color only black white and shades of grey with five different genes currently known to cause similar symptoms it may be that some do see marginal levels of color differentiation due to different gene characteristics with such small sample sizes and low response rates it is difficult to accurately diagnose the typical achromatic conditions if the light level during testing is optimized for them they may achieve corrected visual acuity of 20 100 to 20 150 at lower light levels regardless of the absence of color one common trait is hemeralopia or blindness in full sun in patients with achromatopsia the cone system and fibres carrying color information remain intact this indicates that the mechanism used to construct colors is defective
nyctalopia
nyctalopia ˌnɪktəlˈoʊpiə from greek νύκτ nykt night ἀλαός alaos blind not seeing and ὄψ ops eye also called night blindness is a condition making it difficult or impossible to see in relatively low light it is a symptom of several eye diseases night blindness may exist from birth or be caused by injury or malnutrition for example a lack of vitamin a it can be described as insufficient adaptation to darkness the opposite problem the inability to see in bright light is known as hemeralopia and is much rarer
nyctalopia ˌnɪktəlˈoʊpiə from greek νύκτ nykt night ἀλαός alaos blind not seeing and ὄψ ops eye also called night blindness is a condition making it difficult or impossible to see in relatively low light it is a symptom of several eye diseases night blindness may exist from birth or be caused by injury or malnutrition for example a lack of vitamin a it can be described as insufficient adaptation to darkness the most common cause of nyctalopia is retinitis pigmentosa a disorder in which the rod cells in the retina gradually lose their ability to respond to the light patients suffering from this genetic condition have progressive nyctalopia and eventually their daytime vision may also be affected in x linked congenital stationary night blindness from birth the rods either do not work at all or work very little but the condition doesn t get worse another cause of night blindness is a deficiency of retinol or vitamin a found in fish oils liver and dairy products the opposite problem the inability to see in bright light is known as hemeralopia and is much rarer since the outer area of the retina is made up of more rods than cones loss of peripheral vision often results in night blindness individuals suffering from night blindness not only see poorly at night but also require extra time for their eyes to adjust from brightly lit areas to dim ones contrast vision may also be greatly reduced rods contain a receptor protein called rhodopsin when light falls on rhodopsin it undergoes a series of conformational changes ultimately generating electrical signals which are carried to the brain via the optic nerve in the absence of light rhodopsin is regenerated the body synthesizes rhodopsin from vitamin a which is why a deficiency in vitamin a causes poor night vision refractive vision correction surgery especially prk with the complication of haze may rarely cause a reduction in best night time acuity due to the impairment of contrast sensitivity function csf which is induced by intraocular light scatter resulting from surgical intervention in the natural structural integrity of the cornea
visual impairment
visual impairment also known as vision impairment or vision loss is a decreased ability to see to a degree that causes problems not fixable by usual means such as glasses some also include those who have a decreased ability to see because they do not have access to glasses or contact lenses visual impairment is often defined as a best corrected visual acuity of worse than either 20 40 or 20 60 the term blindness is used for complete or nearly complete vision loss visual impairment may cause people difficulties with normal daily activities such as driving reading socializing and walking
opsoclonus myoclonus syndrome
miosis
adie syndrome
anisocoria
otitis externa
otitis externa also known as swimmer s ear is an inflammation of the ear canal it often presents with ear pain swelling of the ear canal and occasionally decreased hearing typically there is pain with movement of the outer ear a high fever is typically not present except in severe cases
otitis externa also known as swimmer s ear is an inflammation of the ear canal it often presents with ear pain swelling of the ear canal and occasionally decreased hearing typically there is pain with movement of the outer ear a high fever is typically not present except in severe cases otitis externa may be acute meaning less than six weeks or chronic meaning more than three months in duration acute cases are typically due to a bacterial infection while chronic cases are often due to allergies or autoimmune disorders risk factors for acute cases include swimming minor trauma from cleaning using hearing aids or ear plugs and other skin problems like psoriasis or dermatitis those with diabetes are at risk of a severe form of disease known as malignant otitis externa diagnosis is based on the signs and symptoms culturing the ear canal may be useful in chronic or severe cases acetic acid ear drops may be used as a preventative measure treatment of acute cases is typically with antibiotic drops such as ofloxacin or acetic acid steroid drops may be used in addition to antibiotics pain medications such as ibuprofen may be used for the pain antibiotics by mouth are not recommended unless the person has poor immune function or there is infection of the skin around the ear typically improvement occurs within a day of starting treatment treatment of chronic cases depends on the cause otitis externa affects 1 3 of people a year with more than 95 of cases being acute about 10 of people are affected at some point in their life it occurs most commonly among children between the ages of seven and twelve and among the elderly it occurs with near equal frequency in males and females those who live in warm and wet climates are more often affected
otitis media
otitis media is a group of inflammatory diseases of the middle ear the two main types are acute otitis media aom and otitis media with effusion ome aom is an infection of abrupt onset that usually presents with ear pain in young children this may result in pulling at the ear increased crying and poor sleep decreased eating and a fever may also be present ome is typically not associated with symptoms occasionally a feeling of fullness is described it is defined as the presence of non infectious fluid in the middle ear for more than three months chronic suppurative otitis media csom is middle ear inflammation of greater than two weeks that results in episodes of discharge from the ear it may be a complication of acute otitis media pain is rarely present all three may be as
patulous eustachian tube
patulous eustachian tube also known as patent eustachian tube is the name of a physical disorder where the eustachian tube which is normally closed instead stays intermittently open when this occurs the patient experiences autophony the hearing of self generated sounds these sounds such as one s own breathing voice and heartbeat vibrate directly onto the ear drum and can create a bucket on the head effect
mastoiditis
mastoiditis is the result of an infection that extends to the air cells of the skull behind the ear specifically it is an inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system inside the mastoid process the mastoid process is the portion of the temporal bone of the skull that is behind the ear which contains open air containing spaces mastoiditis is usually caused by untreated acute otitis media middle ear infection and used to be a leading cause of child mortality with the development of antibiotics however mastoiditis has become quite rare in developed countries where surgical treatment is now much less frequent and more conservative unlike former times additionally there is no evidence that the drop in antibiotic prescribing for otitis media h
bezold s abscess
bezold s abscess is an abscess in the sternocleidomastoid muscle where pus from a mastoiditis escapes into the sternocleidomastoid it is a rare complication of acute otitis media
cholesteatoma
otosclerosis
otosclerosis or otospongiosis is an abnormal growth of bone near the middle ear it can result in hearing loss the term otosclerosis is somewhat of a misnomer much of the clinical course is characterised by lucent rather than sclerotic bony changes hence it is also known as otospongiosis
ménière s disease
ménière s disease md is a disorder of the inner ear that is characterized by episodes of feeling like the world is spinning vertigo ringing in the ears tinnitus hearing loss and a fullness in the ear typically only one ear is affected at least initially however over time both ears may become involved episodes generally last from 20 minutes to a few hours the time between episodes varies the hearing loss and ringing in the ears may become constant over time
ménière s disease md is a disorder of the inner ear that is characterized by episodes of feeling like the world is spinning vertigo ringing in the ears tinnitus hearing loss and a fullness in the ear typically only one ear is affected at least initially however over time both ears may become involved episodes generally last from 20 minutes to a few hours the time between episodes varies the hearing loss and ringing in the ears may become constant over time the cause of ménière s disease is unclear but likely involves both genetic and environmental factors a number of theories exist for why it occurs including constrictions in blood vessels viral infections and autoimmune reactions about 10 of cases run in families symptoms are believed to occur as the result of increased fluid build up in the labyrinth of the inner ear diagnosis is based on the symptoms and frequently a hearing test other conditions that may produce similar symptoms include vestibular migraine and transient ischemic attack there is no cure attacks are often treated with medications to help with the nausea and anxiety measures to prevent attacks are overall poorly supported by the evidence a low salt diet diuretics and corticosteroids may be tried physical therapy may help with balance and counselling may help with anxiety injections into the ear or surgery may also be tried if other measures are not effective but are associated with risks the use of tympanostomy tubes while popular is not supported ménière s disease was first identified in the early 1800 s by prosper ménière it affects between 0 3 and 1 9 per 1 000 people it most often starts in the 40 s to 60 s females are more commonly affected than males after 5 – 15 years the episodes of world spinning generally stop and the person is left with mild loss of balance moderately poor hearing in the affected ear and ringing in their ear
benign paroxysmal positional vertigo
benign paroxysmal positional vertigo bppv is a disorder arising from a problem in the inner ear symptoms are repeated brief periods of vertigo with movement that is of a spinning sensation caused by changes in the position of the head this can occur with turning in bed or changing position each episode of vertigo typically lasts less than one minute nausea is commonly associated bppv is one of the most common causes of vertigo
hearing loss
hearing loss also known as hearing impairment is a partial or total inability to hear a deaf person has little to no hearing hearing loss may occur in one or both ears in children hearing problems can affect the ability to learn language and in adults it can cause work related difficulties in some people particularly older people hearing loss can result in loneliness hearing loss can be temporary or permanent
ototoxicity
ototoxicity is the property of being toxic to the ear oto specifically the cochlea or auditory nerve and sometimes the vestibular system for example as a side effect of a drug the effects of ototoxicity can be reversible and temporary or irreversible and permanent it has been recognised since the 19 th century there are many well known ototoxic drugs used in clinical situations and they are prescribed despite the risk of hearing disorders to very serious health conditions ototoxic drugs include antibiotics such as gentamicin loop diuretics such as furosemide and platinum based chemotherapy agents such as cisplatin a number of nonsteroidal anti inflammatory drugs nsaids have also been shown to be ototoxic this can result in sensorineural hearing loss dysequilibrium or bo
presbycusis
presbycusis also spelled presbyacusis from greek presbys “ old ” akousis “ hearing ” or age related hearing loss is the cumulative effect of aging on hearing it is a progressive and irreversible bilateral symmetrical age related sensorineural hearing loss resulting from degeneration of the cochlea or associated structures of the inner ear or auditory nerves the hearing loss is most marked at higher frequencies hearing loss that accumulates with age but is caused by factors other than normal aging nosocusis and sociocusis is not presbycusis although differentiating the individual effects of multiple causes of hearing loss can be difficult
tinnitus
tinnitus is the hearing of sound when no external sound is present while often described as a ringing it may also sound like a clicking hiss or roaring rarely unclear voices or music are heard the sound may be soft or loud low pitched or high pitched and appear to be coming from one ear or both most of the time it comes on gradually in some people the sound causes depression anxiety or interferes with concentration
hyperacusis
hyperacusis also spelled hyperacousis is a health condition characterized by an increased sensitivity to certain frequency and volume ranges of sound a collapsed tolerance to usual environmental sound a person with severe hyperacusis has difficulty tolerating everyday sounds some of which may seem unpleasantly or painfully loud to that person but not to others 25 of people with tinnitus report mild hyperacusis
rheumatic fever
rheumatic fever rf also known as acute rheumatic fever arf is an inflammatory disease that can involve the heart joints skin and brain the disease typically develops two to four weeks after a streptococcal throat infection signs and symptoms include fever multiple painful joints involuntary muscle movements and occasionally a characteristic non itchy rash known as erythema marginatum the heart is involved in about half of cases damage to the heart valves known as rheumatic heart disease rhd usually occurs after multiple attacks but can sometimes occur after a single attack the damaged valves may result in heart failure atrial fibrillation and infection of the valves
rheumatic fever rf also known as acute rheumatic fever arf is an inflammatory disease that can involve the heart joints skin and brain the disease typically develops two to four weeks after a streptococcal throat infection signs and symptoms include fever multiple painful joints involuntary muscle movements and occasionally a characteristic non itchy rash known as erythema marginatum the heart is involved in about half of cases damage to the heart valves known as rheumatic heart disease rhd usually occurs after multiple attacks but can sometimes occur after a single attack the damaged valves may result in heart failure atrial fibrillation and infection of the valves rheumatic fever may occur following an infection of the throat by the bacteria streptococcus pyogenes if the infection is untreated rheumatic fever can occur in up to three percent of people the underlying mechanism is believed to involve the production of antibodies against a person s own tissues some people due to their genetics are more likely to get the disease when exposed to the bacteria than others other risk factors include malnutrition and poverty diagnosis of rf is often based on the presence of signs and symptoms in combination with evidence of a recent streptococcal infection treating people who have strep throat with antibiotics such as penicillin decreases the risk of developing rheumatic fever in order to avoid antibiotic misuse this often involves testing people with sore throats for the infection which may not be available in the developing world other preventive measures include improved sanitation in those with rheumatic fever and rheumatic heart disease prolonged periods of antibiotics are sometimes recommended gradual return to normal activities may occur following an attack once rhd develops treatment is more difficult occasionally valve replacement surgery or valve repair is required otherwise complications are treated as per normal rheumatic fever occurs in about 325 000 children each year and about 18 million people currently have rheumatic heart disease those who develop rf are most often between the ages of 5 and 14 with 20 of first time attacks occurring in adults the disease is most common in the developing world and among indigenous peoples in the developed world in 2013 it resulted in 275 000 deaths down from 374 000 deaths in 1990 most deaths occur in the developing world where as many as 12 5 of people affected may die each year descriptions of the condition are believed to date back to at least the 5 th century bce in the writings of hippocrates the disease is so named because its symptoms are similar to those of some rheumatic disorders
pericarditis
pericarditis is inflammation of the pericardium the fibrous sac surrounding the heart symptoms typically include sudden onset of sharp chest pain the pain may also be felt in the shoulders neck or back it is typically better sitting up and worse with lying down or breathing deep other symptoms may include fever weakness palpitations and shortness of breath occasionally onset of symptoms is gradual
sydenham s chorea
sydenham s chorea sc or chorea minor historically referred to as saint vitus dance is a disorder characterized by rapid uncoordinated jerking movements primarily affecting the face hands and feet sydenham s chorea results from childhood infection with group a beta haemolytic streptococcus and is reported to occur in 20 – 30 of patients with acute rheumatic fever arf the disease is usually latent occurring up to 6 months after the acute infection but may occasionally be the presenting symptom of rheumatic fever sydenham s chorea is more common in females than males and most patients are children below 18 years of age adult onset of sydenham s chorea is comparatively rare and the majority of the adult cases are associated with exacerbation of chorea following childhood sydenham
sydenham s chorea sc or chorea minor historically referred to as saint vitus dance is a disorder characterized by rapid uncoordinated jerking movements primarily affecting the face hands and feet sydenham s chorea results from childhood infection with group a beta haemolytic streptococcus and is reported to occur in 20 – 30 of patients with acute rheumatic fever arf the disease is usually latent occurring up to 6 months after the acute infection but may occasionally be the presenting symptom of rheumatic fever sydenham s chorea is more common in females than males and most patients are children below 18 years of age adult onset of sydenham s chorea is comparatively rare and the majority of the adult cases are associated with exacerbation of chorea following childhood sydenham s chorea
valvular heart disease
valvular heart disease is any disease process involving one or more of the four valves of the heart the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right these conditions occur largely as a result of aging most people are in their late 50 s when diagnosed and more than one in ten people over 75 have it early detection may improve outcomes from surgery
valvular heart disease is any disease process involving one or more of the four valves of the heart the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right these conditions occur largely as a result of aging most people are in their late 50 s when diagnosed and more than one in ten people over 75 have it early detection may improve outcomes from surgery collectively and anatomically the valves are part of the dense connective tissue makeup of the heart known as the cardiac skeleton valve problems may be congenital inborn or acquired due to another cause later in life treatment may be with medication but often depending on the severity involves valve repair or replacement insertion of an artificial heart valve specific situations include those where additional demands are made on the circulation such as in pregnancy
mitral valve stenosis
mitral stenosis is a valvular heart disease characterized by the narrowing of the orifice of the mitral valve of the heart
mitral insufficiency
aortic insufficiency
tricuspid insufficiency
myocarditis
myocarditis also known as inflammatory cardiomyopathy is inflammation of the heart muscle the consequences of myocarditis vary widely it can cause a mild disease without any symptoms that resolves itself or it may cause chest pain heart failure or sudden death an acute myocardial infarction like syndrome with normal coronary arteries has a good prognosis heart failure even with a dilated left ventricle may have a good prognosis ventricular arrhythmias and high degree heart block have a poor prognosis loss of right ventricular function is a strong predictor of death
hypertensive emergency
a hypertensive emergency systolic over 180 or diastolic over 120 formerly called malignant hypertension is hypertension high blood pressure with acute impairment of one or more organ systems especially the central nervous system cardiovascular system and or the renal system that can result in irreversible organ damage in a hypertensive emergency the blood pressure should be slowly lowered over a period of minutes to hours with an antihypertensive agent
hypertensive nephropathy
hypertensive nephropathy or hypertensive nephrosclerosis or hypertensive kidney disease is a medical condition referring to damage to the kidney due to chronic high blood pressure it should be distinguished from renovascular hypertension i 15 0 which is a form of secondary hypertension
cardiorenal syndrome
cardiorenal syndrome crs is an umbrella term used in the medical field that defines disorders of the heart and kidneys whereby “ acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other ” the heart and the kidneys are involved in maintaining hemodynamic stability and organ perfusion through an intricate network these two organs communicate with one another through a variety of pathways in an interdependent relationship in a 2004 report from national heart lung and blood institute crs was defined as a condition where treatment of congestive heart failure is limited by decline in kidney function this definition has since been challenged repeatedly but there still remains little consensus over a universally accepted definition for crs at a consensu
cardiorenal syndrome crs is an umbrella term used in the medical field that defines disorders of the heart and kidneys whereby “ acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other ” the heart and the kidneys are involved in maintaining hemodynamic stability and organ perfusion through an intricate network these two organs communicate with one another through a variety of pathways in an interdependent relationship in a 2004 report from national heart lung and blood institute crs was defined as a condition where treatment of congestive heart failure is limited by decline in kidney function this definition has since been challenged repeatedly but there still remains little consensus over a universally accepted definition for crs at a consensus conference of the acute dialysis quality initiative adqi the crs was classified into five subtypes primarily based upon the organ that initiated the insult as well as the acuity of disease
liddle s syndrome
liddle s syndrome also called liddle syndrome and pseudohyperaldosteronism is a genetic disorder inherited in an autosomal dominant manner that is characterized by early and frequently severe high blood pressure associated with low plasma renin activity metabolic alkalosis low blood potassium and normal to low levels of aldosterone liddle syndrome involves abnormal kidney function with excess reabsorption of sodium and loss of potassium from the renal tubule and is treated with a combination of low sodium diet and potassium sparing diuretic drugs e g amiloride it is extremely rare with fewer than 30 pedigrees or isolated cases having been reported worldwide as of 2008
angina pectoris
angina pectoris commonly known as angina is the sensation of chest pain pressure or squeezing often due to ischemia of the heart muscle from obstruction or spasm of the coronary arteries while angina pectoris can derive from anemia abnormal heart rhythms and heart failure its main cause is coronary artery disease an atherosclerotic process affecting the arteries feeding the heart the term derives from the latin angere to strangle and pectus chest and can therefore be translated as a strangling feeling in the chest
coronary artery disease
coronary artery disease cad also known as ischemic heart disease ihd is a group of diseases that includes stable angina unstable angina myocardial infarction and sudden cardiac death it is within the group of cardiovascular diseases of which it is the most common type a common symptom is chest pain or discomfort which may travel into the shoulder arm back neck or jaw occasionally it may feel like heartburn usually symptoms occur with exercise or emotional stress last less than a few minutes and get better with rest shortness of breath may also occur and sometimes no symptoms are present the first sign is occasionally a heart attack other complications include heart failure or an irregular heartbeat
coronary artery disease cad also known as ischemic heart disease ihd is a group of diseases that includes stable angina unstable angina myocardial infarction and sudden cardiac death it is within the group of cardiovascular diseases of which it is the most common type a common symptom is chest pain or discomfort which may travel into the shoulder arm back neck or jaw occasionally it may feel like heartburn usually symptoms occur with exercise or emotional stress last less than a few minutes and get better with rest shortness of breath may also occur and sometimes no symptoms are present the first sign is occasionally a heart attack other complications include heart failure or an irregular heartbeat risk factors include high blood pressure smoking diabetes lack of exercise obesity high blood cholesterol poor diet and excessive alcohol among others other risks include depression the underlying mechanism involves atherosclerosis of the arteries of the heart a number of tests may help with diagnoses including electrocardiogram cardiac stress testing coronary computed tomographic angiography and coronary angiogram among others prevention is by eating a healthy diet regular exercise maintaining a healthy weight and not smoking sometimes medication for diabetes high cholesterol or high blood pressure are also used there is limited evidence for screening people who are at low risk and do not have symptoms treatment involves the same measures as prevention additional medications such as antiplatelets including aspirin beta blockers or nitroglycerin may be recommended procedures such as percutaneous coronary intervention pci or coronary artery bypass surgery cabg may be used in severe disease in those with stable cad it is unclear if pci or cabg in addition to the other treatments improve life expectancy or decreases heart attack risk in 2013 cad was the most common cause of death globally resulting in 8 14 million deaths 16 8 up from 5 74 million deaths 12 in 1990 the risk of death from cad for a given age has decreased between 1980 and 2010 especially in developed countries the number of cases of cad for a given age has also decreased between 1990 and 2010 in the united states in 2010 about 20 of those over 65 had cad while it was present in 7 of those 45 to 64 and 1 3 of those 18 to 45 rates are higher among men than women of a given age
prinzmetal s angina
prinzmetal s or prinzmetal angina ˈprɪntsmɛtəl sounds like prints metal also known as variant angina angina inversa or coronary vessel spasm is a syndrome typically consisting of angina cardiac chest pain at rest that occurs in cycles it is caused by vasospasm a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis buildup of fatty plaque and hardening of the arteries
prinzmetal s or prinzmetal angina ˈprɪntsmɛtəl sounds like prints metal also known as variant angina angina inversa or coronary vessel spasm is a syndrome typically consisting of angina cardiac chest pain at rest that occurs in cycles it is caused by vasospasm a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis buildup of fatty plaque and hardening of the arteries for a portion of patients prinzmetal s angina may be a manifestation of vasospastic disorder and is associated with migraine raynaud s phenomenon or aspirin induced asthma
myocardial infarction
myocardial infarction mi or acute myocardial infarction ami commonly known as a heart attack occurs when blood flow stops to a part of the heart causing damage to the heart muscle the most common symptom is chest pain or discomfort which may travel into the shoulder arm back neck or jaw often it is in the center or left side of the chest and lasts for more than a few minutes the discomfort may occasionally feel like heartburn other symptoms may include shortness of breath nausea feeling faint a cold sweat or feeling tired about 30 of people have atypical symptoms with women more likely than men to present atypically among those over 75 years old about 5 have had an mi with little or no history of symptoms an mi may cause heart failure an irregular heartbeat or ca
myocardial infarction mi or acute myocardial infarction ami commonly known as a heart attack occurs when blood flow stops to a part of the heart causing damage to the heart muscle the most common symptom is chest pain or discomfort which may travel into the shoulder arm back neck or jaw often it is in the center or left side of the chest and lasts for more than a few minutes the discomfort may occasionally feel like heartburn other symptoms may include shortness of breath nausea feeling faint a cold sweat or feeling tired about 30 of people have atypical symptoms with women more likely than men to present atypically among those over 75 years old about 5 have had an mi with little or no history of symptoms an mi may cause heart failure an irregular heartbeat or cardiac arrest most mis occur due to coronary artery disease risk factors include high blood pressure smoking diabetes lack of exercise obesity high blood cholesterol poor diet and excessive alcohol intake among others the mechanism of an mi often involves the complete blockage of a coronary artery caused by a rupture of an atherosclerotic plaque mis are less commonly caused by coronary artery spasms which may be due to cocaine significant emotional stress and extreme cold among others a number of tests are useful to help with diagnosis including electrocardiograms ecgs blood tests and coronary angiography an ecg may confirm an st elevation mi if st elevation is present commonly used blood tests include troponin and less often creatine kinase mb aspirin is an appropriate immediate treatment for a suspected mi nitroglycerin or opioids may be used to help with chest pain however they do not improve overall outcomes supplemental oxygen should be used in those with low oxygen levels or shortness of breath in st elevation mis treatments which attempt to restore blood flow to the heart are typically recommended and include angioplasty where the arteries are pushed open or thrombolysis where the blockage is removed using medications people who have a non st elevation myocardial infarction nstemi are often managed with the blood thinner heparin with the additional use of angioplasty in those at high risk in people with blockages of multiple coronary arteries and diabetes bypass surgery cabg may be recommended rather than angioplasty after an mi lifestyle modifications along with long term treatment with aspirin beta blockers and statins are typically recommended worldwide about 8 6 million myocardial infarctions occurred in 2013 more than 3 million people had an st elevation mi and more than 4 million had an nstemi stemis occur about twice as often in men as women about one million people have an mi each year in the united states in the developed world the risk of death in those who have had an stemi is about 10 rates of mi for a given age have decreased globally between 1990 and 2010
coronary thrombosis
coronary thrombosis is the formation of a blood clot inside a blood vessel of the heart this blood clot restricts blood flow within the heart it is associated with narrowing of blood vessels subsequent to clotting the condition is considered as a type of ischaemic heart disease coronary thrombosis can be a complication associated with drug eluting stents
dressler syndrome
acute coronary syndrome
acute coronary syndrome acs is a syndrome set of signs and symptoms due to decreased blood flow in the coronary arteries such that part of the heart muscle is unable to function properly or dies the most common symptom is chest pain often radiating to the left arm or angle of the jaw pressure like in character and associated with nausea and sweating acute coronary syndrome is usually caused by one of three problems st elevation myocardial infarction stemi 30 non st elevation myocardial infarction nstemi 25 or unstable angina 38
acute coronary syndrome acs is a syndrome set of signs and symptoms due to decreased blood flow in the coronary arteries such that part of the heart muscle is unable to function properly or dies the most common symptom is chest pain often radiating to the left arm or angle of the jaw pressure like in character and associated with nausea and sweating acute coronary syndrome is usually caused by one of three problems st elevation myocardial infarction stemi 30 non st elevation myocardial infarction nstemi 25 or unstable angina 38 these types are named according to the appearance of the electrocardiogram ecg ekg as non st segment elevation myocardial infarction and st segment elevation myocardial infarction there can be some variation as to which forms of myocardial infarction mi are classified under acute coronary syndrome acs should be distinguished from stable angina which develops during exertion and resolves at rest in contrast with stable angina unstable angina occurs suddenly often at rest or with minimal exertion or at lesser degrees of exertion than the individual s previous angina crescendo angina new onset angina is also considered unstable angina since it suggests a new problem in a coronary artery though acs is usually associated with coronary thrombosis it can also be associated with cocaine use cardiac chest pain can also be precipitated by anemia bradycardias excessively slow heart rate or tachycardias excessively fast heart rate
arteriosclerosis
arteriosclerosis is the thickening hardening and loss of elasticity of the walls of arteries this process gradually restricts the blood flow to one s organs and tissues and can lead to severe health risks brought on by atherosclerosis which is a specific form of arteriosclerosis caused by the buildup of fatty plaques cholesterol and some other substances in and on the artery walls
cardiomyopathy
cardiomyopathy is a group of diseases that affect the heart muscle early on there may be few or no symptoms others may have shortness of breath feel tired or have swelling of the legs due to heart failure an irregular heart beat may occur as well as fainting those affected are at an increased risk sudden cardiac death
cardiomyopathy is a group of diseases that affect the heart muscle early on there may be few or no symptoms others may have shortness of breath feel tired or have swelling of the legs due to heart failure an irregular heart beat may occur as well as fainting those affected are at an increased risk sudden cardiac death types of cardiomyopathy include hypertrophic cardiomyopathy dilated cardiomyopathy restrictive cardiomyopathy arrhythmogenic right ventricular dysplasia and broken heart syndrome in hypertrophic cardiomyopathy the heart muscle enlarges and thickens in dilated cardiomyopathy the ventricles enlarge and weaken in restrictive cardiomyopathy the ventricle stiffens the cause is frequently unknown hypertrophic cardiomyopathy is often and dilated cardiomyopathy in a third of cases is inherited from a person s parents dilated cardiomyopathy may also result from alcohol heavy metals coronary heart disease cocaine use and viral infections restrictive cardiomyopathy may be caused by amyloidosis hemochromatosis and some cancer treatments broken heart syndrome is caused by extreme emotional or physical stress treatment depends on the type of cardiomyopathy and the degree of symptoms treatments may include lifestyle changes medications or surgery in 2013 cardiomyopathy and myocarditis affected 7 9 million people hypertrophic cardiomyopathy affects about 1 in 500 people while dilated cardiomyopathy affects 1 in 2 500 they resulted in 443 000 deaths up from 294 000 in 1990 arrhythmogenic right ventricular dysplasia is more common in young people
pulmonary embolism
pulmonary embolism pe is a blockage of an artery in the lungs by a substance that has traveled from elsewhere in the body through the bloodstream embolism symptoms of a pe may include shortness of breath chest pain particularly upon breathing in and coughing up blood symptoms of a blood clot in the leg may also be present such as a red warm swollen and painful leg signs of a pe include low blood oxygen levels rapid breathing rapid heart rate and sometimes a mild fever severe cases can lead to passing out abnormally low blood pressure and sudden death
pulmonary heart disease
pulmonary heart disease also known as cor pulmonale is the enlargement and failure of the right ventricle of the heart as a response to increased vascular resistance such as from pulmonic stenosis or high blood pressure in the lungs
pulmonary hypertension
arteriovenous fistula
pericardial effusion
pericardial effusion fluid around the heart is an abnormal accumulation of fluid in the pericardial cavity because of the limited amount of space in the pericardial cavity fluid accumulation leads to an increased intrapericardial pressure which can negatively affect heart function a pericardial effusion with enough pressure to adversely affect heart function is called cardiac tamponade pericardial effusion usually results from a disturbed equilibrium between the production and re absorption of pericardial fluid or from a structural abnormality that allows fluid to enter the pericardial cavity
cardiac tamponade
cardiac tamponade also known as pericardial tamponade is when fluid in the pericardium the sac around the heart builds up and results in compression of the heart onset may be rapid or more gradual symptoms typically include those of cardiogenic shock including shortness of breath weakness lightheadedness and cough other symptoms may relate to the underlying cause
cardiac tamponade also known as pericardial tamponade is when fluid in the pericardium the sac around the heart builds up and results in compression of the heart onset may be rapid or more gradual symptoms typically include those of cardiogenic shock including shortness of breath weakness lightheadedness and cough other symptoms may relate to the underlying cause common causes include cancer kidney failure chest trauma and pericarditis other causes include connective tissue diseases hypothyroidism aortic rupture and following cardiac surgery in africa tuberculosis is a relatively common cause diagnosis may be suspected based on low blood pressure jugular venous distension pericardial rub or quiet heart sounds the diagnosis may be further supported by specific electrocardiogram ecg changes chest x ray or an ultrasound of the heart if fluid increases slowly the pericardial sac can expand to contain more than 2 liters however if the increase is rapid as little as 200 ml can result in tamponade when tamponade results in symptoms drainage is necessary this can be done by pericardiocentesis surgery to create a pericardial window or a pericardiectomy drainage may also be necessary to rule out infection or cancer other treatments may include the use of dobutamine or in those with low blood volume intravenous fluids those with few symptoms and no worrisome features can often be closely followed the frequency of tamponade is unclear one estimate from the united states places it at 2 per 10 000 per year
endocarditis
endocarditis is an inflammation of the inner layer of the heart the endocardium it usually involves the heart valves other structures that may be involved include the interventricular septum the chordae tendineae the mural endocardium or the surfaces of intracardiac devices endocarditis is characterized by lesions known as vegetations which is a mass of platelets fibrin microcolonies of microorganisms and scant inflammatory cells in the subacute form of infective endocarditis the vegetation may also include a center of granulomatous tissue which may fibrose or calcify
endocarditis is an inflammation of the inner layer of the heart the endocardium it usually involves the heart valves other structures that may be involved include the interventricular septum the chordae tendineae the mural endocardium or the surfaces of intracardiac devices endocarditis is characterized by lesions known as vegetations which is a mass of platelets fibrin microcolonies of microorganisms and scant inflammatory cells in the subacute form of infective endocarditis the vegetation may also include a center of granulomatous tissue which may fibrose or calcify there are several ways to classify endocarditis the simplest classification is based on cause either infective or non infective depending on whether a microorganism is the source of the inflammation or not regardless the diagnosis of endocarditis is based on clinical features investigations such as an echocardiogram and blood cultures demonstrating the presence of endocarditis causing microorganisms signs and symptoms include fever chills sweating malaise weakness anorexia weight loss splenomegaly flu like feeling cardiac murmur heart failure petechia of anterior trunk janeway s lesions etc
mitral valve prolapse
mitral valve prolapse mvp a k a floppy mitral valve syndrome systolic click murmur syndrome or billowing mitral leaflet is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole it is the primary form of myxomatous degeneration of the valve there are various types of mvp broadly classified as classic and nonclassic in its nonclassic form mvp carries a low risk of complications and often can be kept minimal by dietary attention in severe cases of classic mvp complications include mitral regurgitation infective endocarditis congestive heart failure and in rare circumstances cardiac arrest
aortic stenosis
aortic stenosis as or aos is the narrowing of the exit of the left ventricle of the heart where the aorta begins such that problems result it may occur at the aortic valve as well as above and below this level it typically gets worse over time symptoms often come on gradually with a decreased ability to exercise often occurring first if heart failure loss of consciousness or heart related chest pain occurs due to as the outcomes are worse loss of consciousness typically occurs with standing or exercise signs of heart failure include shortness of breath especially when lying down at night or with exercise and swelling of the legs thickening of the valve without narrowing is known as aortic sclerosis
aortic stenosis as or aos is the narrowing of the exit of the left ventricle of the heart where the aorta begins such that problems result it may occur at the aortic valve as well as above and below this level it typically gets worse over time symptoms often come on gradually with a decreased ability to exercise often occurring first if heart failure loss of consciousness or heart related chest pain occurs due to as the outcomes are worse loss of consciousness typically occurs with standing or exercise signs of heart failure include shortness of breath especially when lying down at night or with exercise and swelling of the legs thickening of the valve without narrowing is known as aortic sclerosis causes include being born with a bicuspid aortic valve and rheumatic fever a bicuspid aortic valve affects about one to two percent of the population while rheumatic heart disease mostly occurring in the developing world a normal valve however may also harden over the decades risk factors are similar to those of coronary artery disease and include smoking high blood pressure high cholesterol diabetes and being male the aortic valve usually has three leaflets and is located between the left ventricle of the heart and the aorta as typically results in a heart murmur its severity can be divided into mild moderate severe and very severe based on ultrasound of the heart findings aortic stenosis is typically followed using repeated ultrasounds once it has become severe treatment primarily involves valve replacement surgery with transcatheter aortic valve replacement tavr being an option in some who are at high risk from surgery valves may either be mechanical or bioprosthetic with each having risks and benefits another less invasive procedure balloon aortic valvuloplasty bav may result in benefit but this is for only for a few months complications like heart failure may be treated as per normal in those with mild to moderate as in those with severe disease a number of medications should be avoided including ace inhibitors nitroglycerin and some beta blockers nitroprusside or phenylephrine may be used in those with decompensated heart failure depending on the blood pressure aortic stenosis is the most common valvular heart disease in the developed world it affects about 2 of people who are over 65 years of age estimated rates are not known in most of the developing world as of 2014 in those who have symptoms without repair the chance of death at five years is about 50 and at 10 years is about 90 aortic stenosis was first described by french physician lazare rivière in 1663
pulmonary valve stenosis
dilated cardiomyopathy
dilated cardiomyopathy dcm is a condition in which the heart becomes enlarged and cannot pump blood efficiently the decreased heart function can affect the lungs liver and other body systems dcm is one of the cardiomyopathies a group of diseases that affect primarily the heart muscle different cardiomyopathies have different causes and affect the heart in different ways in dcm a portion of the myocardium is dilated often without any obvious cause left or right ventricular systolic pump function of the heart is impaired leading to progressive heart enlargement via ventricular hypertrophy and ventricular dilation a process called ventricular remodeling
hypertrophic cardiomyopathy
hypertrophic cardiomyopathy hcm is a disease in which a portion of the myocardium heart muscle is enlarged without any obvious cause creating functional impairment of the heart it is the leading cause of sudden death in young athletes the occurrence of hypertrophic cardiomyopathy is a significant cause of sudden cardiac death in any age group and a cause of disabling cardiac symptoms hcm is frequently asymptomatic until sudden cardiac death and for this reason some suggest routinely screening certain populations for this disease
hypertrophic cardiomyopathy hcm is a disease in which a portion of the myocardium heart muscle is enlarged without any obvious cause creating functional impairment of the heart it is the leading cause of sudden death in young athletes the occurrence of hypertrophic cardiomyopathy is a significant cause of sudden cardiac death in any age group and a cause of disabling cardiac symptoms hcm is frequently asymptomatic until sudden cardiac death and for this reason some suggest routinely screening certain populations for this disease a cardiomyopathy is a disease that affects the muscle of the heart with hcm the myocytes cardiac contractile cells in the heart increase in size which results in the thickening of the heart muscle in addition the normal alignment of muscle cells is disrupted a phenomenon known as myocardial disarray hcm also causes disruptions of the electrical functions of the heart hcm is most commonly due to a mutation in one of nine sarcomeric genes that results in a mutated protein in the sarcomere the primary component of the myocyte the muscle cell of the heart these are predominantly single point missense mutations in the genes for beta myosin heavy chain mhc myosin binding protein c cardiac troponint or tropomyosin these mutations cause myofibril and myocyte structural abnormalities and possible deficiencies in force generation while most literature so far focuses on european american and japanese populations hcm appears in all ethnic groups the prevalence of hcm is about 0 2 to 0 5 of the general population
takotsubo cardiomyopathy
atrioventricular block
atrioventricular block av block is a type of heart block in which the conduction between the atria and ventricles of the heart is impaired under normal conditions the sinoatrial node sa node in the atria sets the pace for the heart and these impulses travel down to the ventricles in an av block this message does not reach the ventricles or is impaired along the way the ventricles of the heart have their own pacing mechanisms which can maintain a lowered heart rate in the absence of sa stimulation there are three types
left anterior fascicular block
left anterior fascicular block lafb is an abnormal condition of the left ventricle of the heart related to but distinguished from left bundle branch block lbbb it is caused by only the anterior half of the left bundle branch being defective it is manifested on the ecg by left axis deviation it is much more common than left posterior fascicular block
left bundle branch block
left bundle branch block lbbb is a cardiac conduction abnormality seen on the electrocardiogram ecg in this condition activation of the left ventricle of the heart is delayed which causes the left ventricle to contract later than the right ventricle
bundle branch block
left posterior fascicular block
a left posterior fascicular block lpfb is a condition where the left posterior fascicle which travels to the inferior and posterior portion of the left ventricle does not conduct the electrical impulses from the atrioventricular node the wave front instead moves more quickly through the left anterior fascicle and right bundle branch leading to a right axis deviation seen on the ecg the american heart association has defined a lpfb as the broad nature of the posterior bundle as well as its dual blood supply makes isolated lpfb rare
a left posterior fascicular block lpfb is a condition where the left posterior fascicle which travels to the inferior and posterior portion of the left ventricle does not conduct the electrical impulses from the atrioventricular node the wave front instead moves more quickly through the left anterior fascicle and right bundle branch leading to a right axis deviation seen on the ecg the american heart association has defined a lpfb as frontal plane axis between 90 ° and 180 ° in adults rs pattern in leads i and avl qr pattern in leads iii and avf qrs duration less than 120 ms the broad nature of the posterior bundle as well as its dual blood supply makes isolated lpfb rare
right bundle branch block
a right bundle branch block rbbb is a heart block in the electrical conduction system during a right bundle branch block the right ventricle is not directly activated by impulses travelling through the right bundle branch the left ventricle however is still normally activated by the left bundle branch these impulses are then able to travel through the myocardium of the left ventricle to the right ventricle and depolarize the right ventricle this way as conduction through the myocardium is slower than conduction through the bundle of his purkinje fibres the qrs complex is seen to be widened the qrs complex often shows an extra deflection which reflects the rapid depolarisation of the left ventricle followed by the slower depolarisation of the right ventricle
a right bundle branch block rbbb is a heart block in the electrical conduction system during a right bundle branch block the right ventricle is not directly activated by impulses travelling through the right bundle branch the left ventricle however is still normally activated by the left bundle branch these impulses are then able to travel through the myocardium of the left ventricle to the right ventricle and depolarize the right ventricle this way as conduction through the myocardium is slower than conduction through the bundle of his purkinje fibres the qrs complex is seen to be widened the qrs complex often shows an extra deflection which reflects the rapid depolarisation of the left ventricle followed by the slower depolarisation of the right ventricle in most cases right bundle branch block has a pathological cause though it is also seen in healthy individuals
sinoatrial block
the initial impulse in a heart is usually formed in the sinoatrial sa node and carried through the atria down the internodal atrial pathways and to the atrioventricular av node in normal conduction the impulse would travel across the “ bundle of his ” av bundle down the bundle branches and into the purkinje fibers this would depolarize the ventricles and cause them to contract
pre excitation syndrome
wolff – parkinson – white syndrome
wolff – parkinson – white syndrome wpw is one of several disorders of the electrical system of the heart that are commonly referred to as pre excitation syndromes wpw is caused by the presence of an abnormal accessory electrical conduction pathway between the atria and the ventricles electrical signals traveling down this abnormal pathway known as the bundle of kent may stimulate the ventricles to contract prematurely resulting in a unique type of supraventricular tachycardia referred to as an atrioventricular re entrant tachycardia
lown – ganong – levine syndrome
lown – ganong – levine syndrome lgl is a pre excitation syndrome of the heart due to abnormal electrical communication between the atria and the ventricles once thought to involve an accessory conduction pathway it is grouped with wolff – parkinson – white syndrome as an atrioventricular re entrant tachycardia avrt individuals with lgl syndrome have a short pr interval with normal qrs complexes and paroxysms of clinically significant tachycardia the syndrome is named after bernard lown william francis ganong jr and samuel a levine
lown – ganong – levine syndrome lgl is a pre excitation syndrome of the heart due to abnormal electrical communication between the atria and the ventricles once thought to involve an accessory conduction pathway it is grouped with wolff – parkinson – white syndrome as an atrioventricular re entrant tachycardia avrt individuals with lgl syndrome have a short pr interval with normal qrs complexes and paroxysms of clinically significant tachycardia the syndrome is named after bernard lown william francis ganong jr and samuel a levine individuals with a short pr interval found incidentally on ekg were once thought to have lgl syndrome however subsequent studies have shown that a short pr interval in the absence of symptomatic tachycardia is simply a benign ekg variant
accelerated idioventricular rhythm
accelerated idioventricular rhythm is ventricular rhythm with a rate of between 40 and 120 beats per minute idioventricular means “ relating to or affecting the cardiac ventricle alone “ and refers to any ectopic ventricular arrythmia accelerated idioventricular arrhythmias are distinguished from ventricular rhythms with rates less than 40 ventricular escape and those faster than 120 ventricular tachycardia though some other references limit to between 60 and 100 beats per minute it is also referred to as aivr and slow ventricular tachycardia
long qt syndrome
long qt syndrome lqts is a rare congenital and inherited or acquired heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsades de pointes tdp a form of irregular heartbeat that originates from the ventricles these episodes may lead to fainting and sudden death due to ventricular fibrillation episodes may be provoked by various stimuli depending on the subtype of the condition
long qt syndrome lqts is a rare congenital and inherited or acquired heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsades de pointes tdp a form of irregular heartbeat that originates from the ventricles these episodes may lead to fainting and sudden death due to ventricular fibrillation episodes may be provoked by various stimuli depending on the subtype of the condition the condition is named for the appearance of the electrocardiogram ecg ekg on which a prolongation of the qt interval occurs normally the qt interval duration is between 350 and 440 milliseconds in some individuals the qt prolongation occurs after the administration of certain medications which may be dangerous in addition to medications long qt syndrome can be acquired from malnutrition leading to low blood potassium or low blood magnesium as in anorexia nervosa
adams – stokes syndrome
stokes – adams syndrome alternative eponyms include adams – stokes syndrome gerbezius morgagni adams – stokes syndrome and gerbec morgagni adams – stokes syndrome is a periodic fainting spell in which there is a periodic onset and offset of blockage of heart due to disorder of heart rhythm that may last for seconds hours days or even weeks before the conduction returns named after two irish physicians robert adams 1791 – 1875 and william stokes 1804 – 1877 the first description of the syndrome was published in 1717 by the carniolan physician of slovene descent marko gerbec which was 44 years after its publication quoted by giovanni battista morgagni it is characterised by decrease in cardiac output and loss of consciousness due to a transient arrhythmia for example bradycardia due to
cardiac arrest
cardiac arrest is a sudden stop in effective blood flow due to the failure of the heart to contract effectively symptoms include loss of consciousness and abnormal or absent breathing some people may have chest pain shortness of breath or nausea before this occurs if not treated within minutes death usually occurs
asystole
asystole also known as flatline is a state of no electrical activity from the heart and therefore no blood flow it results in cardiac arrest asystole is found initially in about 28 of people in cardiac arrest survival rates in a cardiac arrest patient with asystole are much lower than a patient with a rhythm amenable to defibrillation asystole is itself not a shockable rhythm out of hospital survival rates even with emergency intervention are less than 2 percent
pulseless electrical activity
pulseless electrical activity pea also known by as electromechanical dissociation refers to cardiac arrest in which a heart rhythm is observed on the electrocardiogram that should be producing a pulse but is not pulseless electrical activity is found initially in about 55 of people in cardiac arrest cardiopulmonary resuscitation cpr is the first treatment for pea while potential underlying causes are identified and treated the medication epinephrine may be administered survival is about 20
pulseless electrical activity pea also known by as electromechanical dissociation refers to cardiac arrest in which a heart rhythm is observed on the electrocardiogram that should be producing a pulse but is not pulseless electrical activity is found initially in about 55 of people in cardiac arrest under normal circumstances electrical activation of muscle cells precedes mechanical contraction of the heart known as electromechanical coupling in pea there is electrical activity but the heart either does not contract or there are other reasons this results in an insufficient cardiac output to generate a pulse and supply blood to the organs while pea is classified as a form of cardiac arrest significant cardiac output may still be present which may be determined and best visualized by bedside ultrasound cardiopulmonary resuscitation cpr is the first treatment for pea while potential underlying causes are identified and treated the medication epinephrine may be administered survival is about 20
av nodal reentrant tachycardia
av nodal reentrant tachycardia avnrt or atrioventricular nodal reentrant tachycardia is a type of tachycardia fast rhythm of the heart it is a type of supraventricular tachycardia svt meaning that it originates from a location within the heart above the bundle of his av nodal reentrant tachycardia is the most common regular supraventricular tachycardia it is more common in women than men approximately 75 of cases occur in females the main symptom is palpitations treatment may be with specific physical maneuvers medication or rarely synchronized cardioversion frequent attacks may require radiofrequency ablation in which the abnormally conducting tissue in the heart is destroyed
supraventricular tachycardia
supraventricular tachycardia svt is an abnormally fast heart rhythm arising from improper electrical activity in upper part of the heart there are four main types atrial fibrillation paroxysmal supraventricular tachycardia psvt atrial flutter and wolff parkinson white syndrome symptoms may include palpitations feeling faint sweating shortness of breath or chest pain
ventricular tachycardia
ventricular tachycardia v tach or vt is a type of regular and fast heart rate that arises from improper electrical activity in the ventricles of the heart although a few seconds may not result in problems longer periods are dangerous short periods may occur without symptoms or present with lightheadedness palpitations or chest pain ventricular tachycardia may result in cardiac arrest and turn into ventricular fibrillation ventricular tachycardia is found initially in about 7 of people in cardiac arrest
cardiac arrhythmia
cardiac arrhythmia also known as cardiac dysrhythmia or irregular heartbeat is a group of conditions in which the heartbeat is irregular too fast or too slow a heart rate that is too fast – above 100 beats per minute in adults – is called tachycardia and a heart rate that is too slow – below 60 beats per minute – is called bradycardia many types of arrhythmia have no symptoms when symptoms are present these may include palpitations or feeling a pause between heartbeats more seriously there may be lightheadedness passing out shortness of breath or chest pain while most types of arrhythmia are not serious some predispose a person to complications such as stroke or heart failure others may result in cardiac arrest
atrial flutter
atrial flutter afl is an abnormal heart rhythm that occurs in the atria of the heart when it first occurs it is usually associated with a fast heart rate or tachycardia beats over 100 per minute and falls into the category of supra ventricular tachycardias while this rhythm occurs most often in individuals with cardiovascular disease e g hypertension coronary artery disease and cardiomyopathy and diabetes mellitus it may occur spontaneously in people with otherwise normal hearts it is typically not a stable rhythm and frequently degenerates into atrial fibrillation af however it does rarely persist for months to years
atrial flutter afl is an abnormal heart rhythm that occurs in the atria of the heart when it first occurs it is usually associated with a fast heart rate or tachycardia beats over 100 per minute and falls into the category of supra ventricular tachycardias while this rhythm occurs most often in individuals with cardiovascular disease e g hypertension coronary artery disease and cardiomyopathy and diabetes mellitus it may occur spontaneously in people with otherwise normal hearts it is typically not a stable rhythm and frequently degenerates into atrial fibrillation af however it does rarely persist for months to years atrial flutter was first identified as an independent medical condition in 1920 by the british physician sir thomas lewis 1881 – 1945 and colleagues
atrial fibrillation
atrial fibrillation af or a fib is an abnormal heart rhythm characterized by rapid and irregular beating often it starts as brief periods of abnormal beating which become longer and possibly constant over time most episodes have no symptoms occasionally there may be heart palpitations fainting shortness of breath or chest pain the disease is associated with an increased risk of heart failure dementia and stroke it is a type of supraventricular tachycardia
atrial fibrillation af or a fib is an abnormal heart rhythm characterized by rapid and irregular beating often it starts as brief periods of abnormal beating which become longer and possibly constant over time most episodes have no symptoms occasionally there may be heart palpitations fainting shortness of breath or chest pain the disease is associated with an increased risk of heart failure dementia and stroke it is a type of supraventricular tachycardia hypertension and valvular heart disease are the most common alterable risk factors for af other heart related risk factors include heart failure coronary artery disease cardiomyopathy and congenital heart disease in the developing world valvular heart disease often occurs as a result of rheumatic fever lung related risk factors include copd obesity and sleep apnea other factors include excess alcohol intake diabetes mellitus and thyrotoxicosis however half of cases are not associated with one of these risks a diagnosis is made by feeling the pulse and may be confirmed using an electrocardiogram ecg a typical ecg in af shows no p waves and an irregular ventricular rate af is often treated with medications to slow the heart rate to a near normal range known as rate control or to convert the rhythm to normal sinus rhythm known as rhythm control electrical cardioversion can also be used to convert af to a normal sinus rhythm and is often used emergently if the person is unstable ablation may prevent recurrence in some people depending on the risk of stroke either aspirin or anti clotting medications such as warfarin or a novel oral anticoagulant may be recommended while these medications reduce this risk they increase rates of major bleeding atrial fibrillation is the most common serious abnormal heart rhythm in europe and north america as of 2014 it affects about 2 to 3 of the population this is an increase from 0 4 to 1 of the population around 2005 in the developing world about 0 6 of males and 0 4 of females are affected the percentage of people with af increases with age with 0 14 under 50 years old 4 between 60 and 70 years old and 14 over 80 years old being affected a fib and atrial flutter resulted in 112 000 deaths in 2013 up from 29 000 in 1990 the first known report of an irregular pulse was by jean baptiste de sénac in 1749 this was first documented by ecg in 1909 by thomas lewis
ventricular flutter
ventricular flutter is an arrhythmia more specifically a tachycardia affecting the ventricles with a rate over 250 350 beats min it is characterized on the ecg by a sinusoidal waveform without clear definition of the qrs and t waves it has been considered as a possible transition stage between ventricular tachycardia and fibrillation and is a critically unstable arrhythmia that can result in sudden cardiac death it can occur in infancy youth or as an adult it can be induced by programmed electrical stimulation
ventricular fibrillation
ventricular fibrillation v fib or vf is when the heart quivers instead of pumps due to disorganized electrical activity in the ventricles it results in cardiac arrest with loss of consciousness and no pulse this is followed by irreversible death without treatment ventricular fibrillation is found initially in about 10 of people in cardiac arrest
sick sinus syndrome
postural orthostatic tachycardia syndrome
postural orthostatic tachycardia syndrome pots also known as postural tachycardia syndrome is a condition in which a change from the supine position to an upright position causes an abnormally large increase in heart rate called tachycardia other symptoms of an orthostatic nature — occurring in response to upright posture — may accompany the tachycardia
postural orthostatic tachycardia syndrome pots also known as postural tachycardia syndrome is a condition in which a change from the supine position to an upright position causes an abnormally large increase in heart rate called tachycardia other symptoms of an orthostatic nature — occurring in response to upright posture — may accompany the tachycardia the causes of pots are poorly understood and it is likely that several distinct underlying problems can lead to the symptoms of pots a variety of treatments including exercise and medications can improve symptoms for the majority of people with pots many experience a reasonable recovery with recovery defined as the relative absence of orthostatic symptoms alone with the ability to perform the activities of daily living with minimal restriction while in others the condition persists indefinitely it has been estimated that there are between 500 000 and 3 000 000 people with pots in the united states alone
brugada syndrome
brugada syndrome brs is a genetic disease that is characterised by abnormal electrocardiogram ecg findings and an increased risk of sudden cardiac death it is named for the spanish cardiologists pedro brugada josep brugada and ramon brugada it is the major cause of sudden unexplained death syndrome suds also known as sudden adult death syndrome sads and is the most common cause of sudden death in young men without known underlying cardiac disease in thailand and laos
heart failure
heart failure hf often referred to as congestive heart failure chf occurs when the heart is unable to pump sufficiently to maintain blood flow to meet the body s needs signs and symptoms commonly include shortness of breath excessive tiredness and leg swelling the shortness of breath is usually worse with exercise while lying down and may wake the person at night a limited ability to exercise is also a common feature chest pain including angina does not typically occur due to heart failure
cardiac asthma
cardiac asthma is a medical diagnosis of wheezing coughing or shortness of breath due to congestive heart failure it is known as cardiac asthma because the symptoms mimic ordinary asthma one study found that patients with cardiac asthma represented one third of congestive heart failure in elderly patients depending on severity it may be classified as a medical emergency as it can be a symptom of acute heart failure leading to the buildup of fluids in the lungs pulmonary edema as well as within and around the airways
cardiac asthma is a medical diagnosis of wheezing coughing or shortness of breath due to congestive heart failure it is known as cardiac asthma because the symptoms mimic ordinary asthma one study found that patients with cardiac asthma represented one third of congestive heart failure in elderly patients depending on severity it may be classified as a medical emergency as it can be a symptom of acute heart failure leading to the buildup of fluids in the lungs pulmonary edema as well as within and around the airways the distinction between true asthma and cardiac asthma is especially important because some treatments for true asthma including inhalers may actually worsen cardiac asthma and cause severe heart arrhythmias true asthma in contrast is caused by the inflammation and eventual narrowing down of airways this is what causes the breathing difficulties that are characteristic to asthma true asthma has nothing to do with fluid in the lungs or heart disease or even the heart failure which is so associated with cardiac asthma
cardiovascular disease
cardiovascular disease cvd is a class of diseases that involve the heart or blood vessels cardiovascular disease includes coronary artery diseases cad such as angina and myocardial infarction commonly known as a heart attack other cvds are stroke hypertensive heart disease rheumatic heart disease cardiomyopathy heart arrhythmia congenital heart disease valvular heart disease carditis aortic aneurysms peripheral artery disease and venous thrombosis
cardiomegaly
cardiomegaly is a medical condition in which the heart is enlarged it is more commonly referred to as an enlarged heart the causes of cardiomegaly may vary many times this condition results from high blood pressure hypertension or coronary artery disease an enlarged heart may not pump blood effectively resulting in congestive heart failure cardiomegaly may improve over time but many people with an enlarged heart need lifelong treatment with medications having an immediate family member who has or had cardiomegaly may indicate that a person is more susceptible to getting this condition cardiomegaly is not a disease but rather a condition that can result from a host of other diseases such as obesity or coronary artery disease recent studies suggest that cardiomegaly is associated
left ventricular hypertrophy
left ventricular hypertrophy lvh is thickening of the heart muscle of the left ventricle of the heart that is left sided ventricular hypertrophy
subarachnoid hemorrhage
subarachnoid hemorrhage sah is bleeding into the subarachnoid space — the area between the arachnoid membrane and the pia mater surrounding the brain symptoms of sah include a severe headache with a rapid onset thunderclap headache vomiting confusion or a lowered level of consciousness and sometimes seizures neck stiffness or neck pain area also relatively common
subarachnoid hemorrhage sah is bleeding into the subarachnoid space — the area between the arachnoid membrane and the pia mater surrounding the brain symptoms of sah include a severe headache with a rapid onset thunderclap headache vomiting confusion or a lowered level of consciousness and sometimes seizures neck stiffness or neck pain area also relatively common sah may occur spontaneously usually from a ruptured cerebral aneurysm or may result from head injury in general the diagnosis can be determined by a ct scan of the head if done within six hours occasionally a lumbar puncture is also required after confirmation of bleeding further tests are usually performed to find problems that may have caused it such as an aneurysm treatment is by prompt neurosurgery or radiologically guided interventions with medications and other treatments to help prevent recurrence of the bleeding and complications it can lead to death or severe disability — even when recognized and treated at an early stage up to half of all cases of sah are fatal and 10 – 15 percent of casualties die before reaching a hospital and those who survive often have neurological or cognitive impairment sah is a form of stroke and comprises 1 – 7 percent of all strokes surgery for aneurysms was introduced in the 1930 s but since the 1990 s many aneurysms are treated by a less invasive procedure called coiling which is carried out by instrumentation through large blood vessels
intracranial hemorrhage
intracerebral hemorrhage
intracerebral hemorrhage ich also known as cerebral bleed is a type of intracranial bleed that occurs within the brain tissue or ventricles symptoms can include headache one sided weakness vomiting seizures decreased level of consciousness and neck stiffness often symptoms get worse over time fever is also common in many cases bleeding is present in both the brain tissue and the ventricles
intracerebral hemorrhage ich also known as cerebral bleed is a type of intracranial bleed that occurs within the brain tissue or ventricles symptoms can include headache one sided weakness vomiting seizures decreased level of consciousness and neck stiffness often symptoms get worse over time fever is also common in many cases bleeding is present in both the brain tissue and the ventricles causes include brain trauma aneurysms arteriovenous malformations and brain tumors the largest risk factors for spontaneous bleeding are high blood pressure and amyloidosis other risk factors include alcoholism low cholesterol blood thinners and cocaine diagnosis is typically by ct scan other conditions that may present similarly include ischemic stroke treatment should typically be carried out in an intensive care unit guidelines recommended decreasing the blood pressure to a systolic of less than 140 mmhg blood thinners should be reversed if possible and blood sugar kept in the normal range surgery to place a ventricular drain may be used to treat hydrocephalus but corticosteroids should not be used surgery to remove the blood is useful in certain cases cerebral bleeding affects about 2 5 per 10 000 people each year it occurs more often in males and older people about 44 of those affected die within a month a good outcome occurs in about 20 of those affected strokes were first divided into their two major types bleeding and insufficient blood flow in 1823
stroke
stroke is when poor blood flow to the brain results in cell death there are two main types of stroke ischemic due to lack of blood flow and hemorrhagic due to bleeding they result in part of the brain not functioning properly signs and symptoms of a stroke may include an inability to move or feel on one side of the body problems understanding or speaking feeling like the world is spinning or loss of vision to one side among others signs and symptoms often appear soon after the stroke has occurred if symptoms last less than one or two hours it is known as a transient ischemic attack tia hemorrhagic strokes may also be associated with a severe headache the symptoms of a stroke can be permanent long term complications may include pneumonia or loss of bladder control
cerebral infarction
carotid artery stenosis
carotid stenosis is a narrowing or constriction of the inner surface lumen of the carotid artery usually caused by atherosclerosis
anterior spinal artery syndrome
anterior spinal artery syndrome also known as anterior spinal cord syndrome is a medical condition where the anterior spinal artery the primary blood supply to the anterior portion of the spinal cord is interrupted causing ischemia or infarction of the spinal cord in the anterior two thirds of the spinal cord and medulla oblongata it is characterized by loss of motor function below the level of injury loss of sensations carried by the anterior columns of the spinal cord pain and temperature and preservation of sensations carried by the posterior columns fine touch vibration and proprioception anterior spinal artery syndrome is the most common form of spinal cord infarction
binswanger s disease
binswanger s disease also known as subcortical leukoencephalopathy is a form of small vessel vascular dementia caused by damage to the white brain matter white matter atrophy can be caused by many circumstances including chronic hypertension as well as old age this disease is characterized by loss of memory and intellectual function and by changes in mood these changes encompass what are known as executive functions of the brain it usually presents between 54 and 66 years of age and the first symptoms are usually mental deterioration or stroke
cerebral vasculitis
cerebral vasculitis or central nervous system vasculitis sometimes the word angiitis is used instead of vasculitis is vasculitis inflammation of the blood vessel wall involving the brain and occasionally the spinal cord it affects all of the vessels very small blood vessels capillaries medium size blood vessels arterioles and venules or large blood vessels arteries and veins if blood flow in a vessel with vasculitis is reduced or stopped the parts of the body that receive blood from that vessel begins to die it may produce a wide range of neurological symptoms such as headache skin rashes feeling very tired joint pains difficulty moving or coordinating part of the body changes in sensation and alterations in perception thought or behavior as well as the phenomen
cerebral vasculitis or central nervous system vasculitis sometimes the word angiitis is used instead of vasculitis is vasculitis inflammation of the blood vessel wall involving the brain and occasionally the spinal cord it affects all of the vessels very small blood vessels capillaries medium size blood vessels arterioles and venules or large blood vessels arteries and veins if blood flow in a vessel with vasculitis is reduced or stopped the parts of the body that receive blood from that vessel begins to die it may produce a wide range of neurological symptoms such as headache skin rashes feeling very tired joint pains difficulty moving or coordinating part of the body changes in sensation and alterations in perception thought or behavior as well as the phenomena of a mass lesion in the brain leading to coma and herniation some of its signs and symptoms may resemble multiple sclerosis 10 have associated bleeding in the brain
reversible cerebral vasoconstriction syndrome
reversible cerebral vasoconstriction syndrome rcvs sometimes called call fleming syndrome is a disease characterized by a weeks long course of thunderclap headaches sometimes focal neurologic signs and occasionally seizures symptoms are thought to arise from transient abnormalities in the blood vessels of the brain in some cases it may be associated with childbirth vasoactive or illicit drug use or complications of pregnancy
reversible cerebral vasoconstriction syndrome rcvs sometimes called call fleming syndrome is a disease characterized by a weeks long course of thunderclap headaches sometimes focal neurologic signs and occasionally seizures symptoms are thought to arise from transient abnormalities in the blood vessels of the brain in some cases it may be associated with childbirth vasoactive or illicit drug use or complications of pregnancy for the vast majority of patients all symptoms disappear on their own within three weeks deficits persist in a small minority of patients with severe complications or death being very rare because symptoms resemble a variety of life threatening conditions differential diagnosis is necessary
cerebral amyloid angiopathy
cerebral amyloid angiopathy caa also known as congophilic angiopathy is a form of angiopathy in which amyloid deposits form in the walls of the blood vessels of the central nervous system the term congophilic is used because the presence of the abnormal aggregations of amyloid can be demonstrated by microscopic examination of brain tissue after application of a special stain called congo red the amyloid material is only found in the brain and as such the disease is not related to other forms of amyloidosis
renal artery stenosis
renal artery stenosis is the narrowing of one of the renal arteries most often caused by atherosclerosis or fibromuscular dysplasia this narrowing of the renal artery can impede blood flow to the target kidney resulting in renovascular hypertension – a secondary type of high blood pressure possible complications of renal artery stenosis are chronic kidney disease and coronary artery disease
monckeberg s arteriosclerosis
mönckeberg s arteriosclerosis or mönckeberg s sclerosis also called medial calcific sclerosis or mönckeberg medial sclerosis is a form of arteriosclerosis or vessel hardening where calcium deposits are found in the muscular middle layer of the walls of arteries the tunica media it is an example of dystrophic calcification this condition occurs as an age related degenerative process however it can occur in pseudoxanthomas elasticum and idiopathic arterial calcification of infancy as a pathological condition as well its clinical significance and etiology are not well understood and its relationship to atherosclerosis and other forms of vascular calcification are the subject of disagreement mönckeberg s arteriosclerosis is named after johann georg mönckeberg who first described i
mönckeberg s arteriosclerosis or mönckeberg s sclerosis also called medial calcific sclerosis or mönckeberg medial sclerosis is a form of arteriosclerosis or vessel hardening where calcium deposits are found in the muscular middle layer of the walls of arteries the tunica media it is an example of dystrophic calcification this condition occurs as an age related degenerative process however it can occur in pseudoxanthomas elasticum and idiopathic arterial calcification of infancy as a pathological condition as well its clinical significance and etiology are not well understood and its relationship to atherosclerosis and other forms of vascular calcification are the subject of disagreement mönckeberg s arteriosclerosis is named after johann georg mönckeberg who first described it in 1903
aortic aneurysm
an aortic aneurysm is an enlargement dilation of the aorta to greater than 1 5 times normal size they usually cause no symptoms except when ruptured occasionally there may be abdominal back or leg pain they are most commonly located in the abdominal aorta but can also be located in the thoracic aorta aortic aneurysms cause weakness in the wall of the aorta and increase the risk of aortic rupture when rupture occurs massive internal bleeding results and unless treated immediately shock and death can occur
aortic dissection
aortic dissection occurs when a tear in the inside of the aorta causes blood to flow between the layers of the wall of the aorta forcing the layers apart in most cases this is associated with a sudden onset of severe chest or back pain often described as tearing in character there may also be vomiting sweating and lightheadedness other symptoms may result from decreased blood supply to other organs such as stroke or mesenteric ischemia aortic dissection can quickly lead to death as a result of not enough blood flow to the heart or rupture of the aorta
aortic dissection occurs when a tear in the inside of the aorta causes blood to flow between the layers of the wall of the aorta forcing the layers apart in most cases this is associated with a sudden onset of severe chest or back pain often described as tearing in character there may also be vomiting sweating and lightheadedness other symptoms may result from decreased blood supply to other organs such as stroke or mesenteric ischemia aortic dissection can quickly lead to death as a result of not enough blood flow to the heart or rupture of the aorta aortic dissection is more common in those with a history of high blood pressure a number of connective tissue diseases that affect blood vessel wall strength such as marfan syndrome a bicuspid aortic valve and previous heart surgery major trauma smoking cocaine use pregnancy a thoracic aortic aneurysm inflammation of arteries and abnormal lipid levels also increase the risk the diagnosis is confirmed with medical imaging such as computed tomography magnetic resonance imaging or ultrasound there are two main types stanford type a which involve the first part of the aorta and type b which do not prevention is by blood pressure control and not smoking the treatment of aortic dissection depends on the part of the aorta involved surgery is usually required for dissections that involve the first part of the aorta while those that do not can typically be treated with blood pressure and heart rate lowering unless complications result surgery may be done either by an opening in the chest or by endovascular aneurysm repair carried out from inside the blood vessels aortic dissection is relatively rare occurring at an estimated rate of 3 per 100 000 people every year it is more common in males than females the typical age at diagnosis is 63 with about 10 of cases occurring before 40 without treatment about half of people with type a die within three days and about 10 of people with type b die within a month the first case of aortic dissection described was in the examination of king george ii of great britain following his death in 1760 surgery for aortic dissection was introduced in the 1950 s by michael e debakey
aneurysm
an aneurysm is a localized blood filled balloon like bulge in the wall of a blood vessel aneurysms can occur in any blood vessel with examples including aneurysms of the circle of willis in the brain aortic aneurysms affecting the thoracic aorta and abdominal aortic aneurysms aneurysms can also occur within the heart
raynaud syndrome
raynaud syndrome also known as raynaud s is a medical condition in which there are episodes of reduced blood flow due to spasm of arteries typically the fingers and less commonly the toes are involved rarely the nose ears or lips are affected the episodes result in the affected part turning white and then blue often there is numbness or pain as blood flow returns the area turns red and burns the episodes typically last minutes but can last up to several hours
raynaud syndrome also known as raynaud s is a medical condition in which there are episodes of reduced blood flow due to spasm of arteries typically the fingers and less commonly the toes are involved rarely the nose ears or lips are affected the episodes result in the affected part turning white and then blue often there is numbness or pain as blood flow returns the area turns red and burns the episodes typically last minutes but can last up to several hours episodes are often triggered by cold or emotional stress there are two main types primary raynaud s when the cause is unknown and secondary raynaud s which occurs as a result of another condition secondary raynaud s can occur due a connective tissue disorder such as scleroderma or lupus injuries to the hands smoking and certain medications such as birth control pills diagnosis is typically based on the symptoms the primary treatment is avoiding the cold other measures include not smoking or using stimulants medications for treatment of cases that do not improve include calcium channel blockers and iloprost little evidence supports alternative medicine severe disease may rarely be complicated by skin sores or gangrene about 4 of people have the condition onset of the primary form is typically between 15 and 30 and occurs more frequently in females the secondary form usually affects older people both forms are more common in cold climates it is named after french physician maurice raynaud who described the condition in 1862
thromboangiitis obliterans
erythromelalgia
erythromelalgia formerly known as mitchell s disease after silas weir mitchell acromelalgia red neuralgia or erythermalgia is a rare vascular peripheral pain disorder in which blood vessels usually in the lower extremities or hands are episodically blocked frequently on and off daily then become hyperemic and inflamed there is severe burning pain in the small fiber sensory nerves and skin redness the attacks are periodic and are commonly triggered by heat pressure mild activity exertion insomnia or stress erythromelalgia may occur either as a primary or secondary disorder i e a disorder in and of itself or a symptom of another condition secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause polycythemia vera essential thrombocyto
erythromelalgia formerly known as mitchell s disease after silas weir mitchell acromelalgia red neuralgia or erythermalgia is a rare vascular peripheral pain disorder in which blood vessels usually in the lower extremities or hands are episodically blocked frequently on and off daily then become hyperemic and inflamed there is severe burning pain in the small fiber sensory nerves and skin redness the attacks are periodic and are commonly triggered by heat pressure mild activity exertion insomnia or stress erythromelalgia may occur either as a primary or secondary disorder i e a disorder in and of itself or a symptom of another condition secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause polycythemia vera essential thrombocytosis hypercholesterolemia mushroom or mercury poisoning and some autoimmune disorders primary erythromelalgia is caused by mutation of the voltage gated sodium channel α subunit gene scn 9 a in 2004 erythromelalgia became the first human disorder in which it has been possible to associate an ion channel mutation with chronic neuropathic pain when its pathophysiology was initially published in the journal of medical genetics conversely in december 2006 a university of cambridge team reported an scn 9 a mutation that resulted in a complete lack of pain sensation in a pakistani street performer and some of his family members he felt no pain walked on hot coals and stabbed himself to entertain crowds
acrocyanosis
acrocyanosis is persistent blue or cyanotic discoloration of the extremities most commonly occurring in the hands although it also occurs in the feet and distal parts of face although described over 100 years ago and not uncommon in practice the nature of this phenomenon is still uncertain the very term acrocyanosis is often applied inappropriately in cases when blue discoloration of the hands feet or parts of the face is noted the principal primary form of acrocyanosis is that of a benign cosmetic condition sometimes caused by a relatively benign neurohormonal disorder regardless of its cause the benign form typically does not require medical treatment a medical emergency would ensue if the extremities experience prolonged periods of exposure to the cold particularly in ch
acrocyanosis is persistent blue or cyanotic discoloration of the extremities most commonly occurring in the hands although it also occurs in the feet and distal parts of face although described over 100 years ago and not uncommon in practice the nature of this phenomenon is still uncertain the very term acrocyanosis is often applied inappropriately in cases when blue discoloration of the hands feet or parts of the face is noted the principal primary form of acrocyanosis is that of a benign cosmetic condition sometimes caused by a relatively benign neurohormonal disorder regardless of its cause the benign form typically does not require medical treatment a medical emergency would ensue if the extremities experience prolonged periods of exposure to the cold particularly in children and patients with poor general health however frostbite differs from acrocyanosis because pain via thermal nociceptors often accompanies the former condition while the latter is very rarely associated with pain there are also a number of other conditions that affect hands feet and parts of the face with associated skin color changes that need to be differentiated from acrocyanosis raynaud ’ s phenomenon pernio acrorygosis erythromelalgia blue finger syndrome the diagnosis may be challenging in some cases especially when these syndromes co exist acrocyanosis may be a sign of a more serious medical problem such as connective tissue diseases and diseases associated with central cyanosis other causative conditions include infections toxicities antiphospholipid syndrome cryoglobulinemia neoplasms in these cases the observed cutaneous changes are known as secondary acrocyanosis they may have a less symmetric distribution and may be associated with pain and tissue loss
peripheral artery disease
peripheral artery disease pad is a narrowing of the arteries other than those that supply the heart or the brain when narrowing occurs in the heart it is called coronary artery disease while in the brain it is called cerebrovascular disease peripheral artery disease most commonly affects the legs but other arteries may also be involved the classic symptom is leg pain when walking which resolves with rest known as intermittent claudication other symptoms including skin ulcers bluish skin cold skin or poor nail and hair growth may occur in the affected leg complications may include an infection or tissue death which may require amputation coronary artery disease or stroke up to 50 of cases of pad are without symptoms
peripheral artery disease pad is a narrowing of the arteries other than those that supply the heart or the brain when narrowing occurs in the heart it is called coronary artery disease while in the brain it is called cerebrovascular disease peripheral artery disease most commonly affects the legs but other arteries may also be involved the classic symptom is leg pain when walking which resolves with rest known as intermittent claudication other symptoms including skin ulcers bluish skin cold skin or poor nail and hair growth may occur in the affected leg complications may include an infection or tissue death which may require amputation coronary artery disease or stroke up to 50 of cases of pad are without symptoms the main risk factor is cigarette smoking other risk factors include diabetes high blood pressure and high blood cholesterol the underlying mechanism is usually atherosclerosis other causes include artery spasm pad is typically diagnosed by finding an ankle brachial index abi less than 0 90 which is the systolic blood pressure at the ankle divided by the systolic blood pressure of the arm duplex ultrasonography and angiography may also be used angiography is more accurate and allows for treatment at the same time however it is associated with greater risks it is unclear if screening for disease is useful as it has not been properly studied in those with intermittent claudication from pad stopping smoking and supervised exercise therapy improves outcomes medications including statins ace inhibitors and cilostazol also may help aspirin does not appear to help those with mild disease but is usually recommended in those with more significant disease anticoagulants such as warfarin are not typically of benefit procedures used to treat the disease include bypass grafting angioplasty and atherectomy in 2010 about 202 million people had pad worldwide in the developed world it affects about 5 3 of 45 to 50 years olds and 18 6 of 85 to 90 year olds in the developing world it affects 4 6 of people between the ages of 45 to 50 and 15 of people between the ages of 85 to 90 in the developed world pad is equally common among men and women while in the developing world women are more commonly affected in 2013 pad resulted in about 41 000 deaths up from 16 000 deaths in 1990
intermittent claudication
embolism
an embolism is the lodging of an embolus a blockage causing piece of material inside a blood vessel the embolus may be a blood clot thrombus a fat globule a bubble of air or other gas gas embolism or foreign material an embolism can cause partial or total blockage of blood flow in the affected vessel such a blockage a vascular occlusion may affect a part of the body distant from where the embolus originated an embolism in which the embolus is a piece of thrombus is called a thromboembolism thrombosis the process of thrombus formation often leads to thromboembolism
median arcuate ligament syndrome
in medicine the median arcuate ligament syndrome mals also known as celiac artery compression syndrome celiac axis syndrome celiac trunk compression syndrome or dunbar syndrome is a condition characterized by abdominal pain attributed to compression of the celiac artery and possibly the celiac ganglia by the median arcuate ligament the abdominal pain may be related to meals may be accompanied by weight loss and may be associated with an abdominal bruit heard by a clinician it is also called celiac artery compression syndrome
in medicine the median arcuate ligament syndrome mals also known as celiac artery compression syndrome celiac axis syndrome celiac trunk compression syndrome or dunbar syndrome is a condition characterized by abdominal pain attributed to compression of the celiac artery and possibly the celiac ganglia by the median arcuate ligament the abdominal pain may be related to meals may be accompanied by weight loss and may be associated with an abdominal bruit heard by a clinician it is also called celiac artery compression syndrome the diagnosis of mals is one of exclusion as many healthy patients demonstrate some degree of celiac artery compression in the absence of symptoms consequently a diagnosis of mals is typically only entertained after more common conditions have been ruled out once suspected screening for mals can be done with ultrasonography and confirmed with computed tomography ct or magnetic resonance mr angiography treatment is generally surgical the mainstay being open division or separation of the median arcuate ligament combined with removal of the celiac ganglia the majority of patients benefit from surgical intervention poorer responses to treatment tend to occur in patients of older age those with a psychiatric condition or who use alcohol have abdominal pain unrelated to meals or who have not experienced weight loss
aortitis
aortitis is the inflammation of the aortic wall the disorder is potentially life threatening and rare it is reported that there are only 1 – 3 new cases of aortitis per year per million people in the united states and europe aortitis is most common in people 10 to 40 years of age
vasculitis
arteritis
arteritis is the inflammation of the walls of arteries usually as a result of infection or autoimmune response arteritis a complex disorder is still not entirely understood arteritis may be distinguished by its different types based on the organ systems affected by the disease a complication of arteritis is thrombosis which can be fatal arteritis and phlebitis are forms of vasculitis
hereditary hemorrhagic telangiectasia
hereditary hemorrhagic telangiectasia hht also known as osler – weber – rendu disease and osler – weber – rendu syndrome is an autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin mucous membranes and often in organs such as the lungs liver and brain the disease carries the names of sir william osler henri jules louis marie rendu and frederick parkes weber who described it in the late 19 th and early 20 th centuries
hereditary hemorrhagic telangiectasia hht also known as osler – weber – rendu disease and osler – weber – rendu syndrome is an autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin mucous membranes and often in organs such as the lungs liver and brain it may lead to nosebleeds acute and chronic digestive tract bleeding and various problems due to the involvement of other organs treatment focuses on reducing bleeding from blood vessel lesions and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs chronic bleeding often requires iron supplements and sometimes blood transfusions hht is transmitted in an autosomal dominant fashion and occurs in one in 5 000 people the disease carries the names of sir william osler henri jules louis marie rendu and frederick parkes weber who described it in the late 19 th and early 20 th centuries
nevus
nevus also known as a mole is the medical term for sharply circumscribed and chronic lesions of the skin or mucosa these lesions are commonly named birthmarks or beauty marks nevi are benign by definition however 25 of malignant melanomas a skin cancer arise from pre existing nevi using the term nevus and nevi loosely most physicians and dermatologists are actually referring to a variant of nevus called the melanocytic nevus which are composed of melanocytes histologically melanocytic nevi are distinguished from lentigines also a type of benign pigmented macule by the presence of nests of melanocytes which lentigines plural form of lentigo lack
spider angioma
halo nevus
halo nevus also known as leukoderma acquisitum centrifugum perinevoid vitiligo and sutton nevus is a mole that is surrounded by a depigmented ring or halo
phlebitis
phlebitis or venitis is the inflammation of a vein usually in the legs it most commonly occurs in superficial veins phlebitis often occurs in conjunction with thrombosis and is then called thrombophlebitis or superficial thrombophlebitis unlike deep vein thrombosis the probability that superficial thrombophlebitis will cause a clot to break up and be transported in pieces to the lung is very low
thrombophlebitis
thrombophlebitis is phlebitis vein inflammation related to a thrombus which is a blood clot when it occurs repeatedly in different locations it is known as thrombophlebitis migrans migrating thrombophlebitis indicated by the trousseau sign of malignancy
thrombosis
thrombosis greek θρόμβωσις is the formation of a blood clot thrombus greek θρόμβος inside a blood vessel obstructing the flow of blood through the circulatory system when a blood vessel is injured the body uses platelets thrombocytes and fibrin to form a blood clot to prevent blood loss even when a blood vessel is not injured blood clots may form in the body under certain conditions a clot that breaks free and begins to travel around the body is known as an embolus thromboembolism is the combination of thrombosis and its main complication embolism
thrombosis greek θρόμβωσις is the formation of a blood clot thrombus greek θρόμβος inside a blood vessel obstructing the flow of blood through the circulatory system when a blood vessel is injured the body uses platelets thrombocytes and fibrin to form a blood clot to prevent blood loss even when a blood vessel is not injured blood clots may form in the body under certain conditions a clot that breaks free and begins to travel around the body is known as an embolus when a thrombus is significantly large enough to reduce the blood flow to a tissue hypoxia oxygen deprivation can occur and metabolic products such as lactic acid can accumulate a larger thrombus causing a much greater obstruction to the blood flow may result in anoxia the complete deprivation of oxygen and infarction tissue death there are also a number of other conditions that can arise according to the location of the thrombus and the organs affected thromboembolism is the combination of thrombosis and its main complication embolism
phlegmasia alba dolens
phlegmasia alba dolens also colloquially known as milk leg or white leg is part of a spectrum of diseases related to deep vein thrombosis historically it was commonly seen during pregnancy and in mothers who have just given birth in cases of pregnancy it is most often seen during the third trimester resulting from a compression of the left common iliac vein against the pelvic rim by the enlarged uterus today this disease is most commonly 40 of the time related to some form of underlying malignancy hypercoagulability a propensity to clot formation is a well known state that occurs in many cancer states the incidence of this disease is not well reported
phlegmasia alba dolens also colloquially known as milk leg or white leg is part of a spectrum of diseases related to deep vein thrombosis historically it was commonly seen during pregnancy and in mothers who have just given birth in cases of pregnancy it is most often seen during the third trimester resulting from a compression of the left common iliac vein against the pelvic rim by the enlarged uterus today this disease is most commonly 40 of the time related to some form of underlying malignancy hypercoagulability a propensity to clot formation is a well known state that occurs in many cancer states the incidence of this disease is not well reported the disease presumably begins with a deep vein thrombosis that progresses to total occlusion of the deep venous system it is at this stage that it is called phlegmasia alba dolens it is a sudden acute process the leg then must rely on the superficial venous system for drainage the superficial system is not adequate to handle the large volume of blood being delivered to the leg via the arterial system the result is edema pain and a white appearance alba of the leg the next step in the disease progression is occlusion of the superficial venous system thereby preventing all venous outflow from the extremity at this stage it is called phlegmasia cerulea dolens the leg becomes more swollen and increasingly more painful additionally the edema and loss of venous outflow impedes the arterial inflow ischemia with progression to gangrene are potential consequences phlegmasia alba dolens is distinguished clinically from phlegmasia cerulea dolens in that there is no ischemia
deep vein thrombosis
deep vein thrombosis or deep venous thrombosis dvt is the formation of a blood clot thrombus within a deep vein most commonly the legs nonspecific signs may include pain swelling redness warmness and engorged superficial veins pulmonary embolism a potentially life threatening complication is caused by the detachment embolization of a clot that travels to the lungs together dvt and pulmonary embolism constitute a single disease process known as venous thromboembolism post thrombotic syndrome another complication significantly contributes to the health care cost of dvt
deep vein thrombosis or deep venous thrombosis dvt is the formation of a blood clot thrombus within a deep vein most commonly the legs nonspecific signs may include pain swelling redness warmness and engorged superficial veins pulmonary embolism a potentially life threatening complication is caused by the detachment embolization of a clot that travels to the lungs together dvt and pulmonary embolism constitute a single disease process known as venous thromboembolism post thrombotic syndrome another complication significantly contributes to the health care cost of dvt in 1856 german pathologist rudolf virchow postulated the interplay of three processes resulting in venous thrombosis now known as virchow s triad a decreased blood flow rate venous stasis increased tendency to clot hypercoagulability and changes to the blood vessel wall dvt formation typically begins inside the valves of the calf veins where the blood is relatively oxygen deprived which activates certain biochemical pathways several medical conditions increase the risk for dvt including cancer trauma and antiphospholipid syndrome other risk factors include older age surgery immobilization as with bed rest orthopedic casts and sitting on long flights combined oral contraceptives pregnancy the postnatal period and genetic factors those genetic factors include deficiencies with antithrombin protein c and protein s the mutation of factor v leiden and the property of having a non o blood type individuals suspected of having dvt may be assessed using a clinical prediction rule such as the wells score a d dimer test may also be used to assist with excluding the diagnosis because of its high sensitivity or to signal a need for further testing diagnosis is most commonly done with ultrasound of the suspected veins prevention options for at risk individuals include early and frequent walking calf exercises anticoagulants aspirin graduated compression stockings and intermittent pneumatic compression anticoagulation is the standard treatment typical medications include low molecular weight heparin or a vitamin k antagonist wearing graduated compression stockings appears to reduce the risk of post thrombotic syndrome the rate of dvts increases from childhood to old age in adulthood about one in 1000 adults is affected per year
mondor s disease
mondor s disease also known as mondor s syndrome of superficial thrombophlebitis is a rare condition which involves thrombophlebitis of the superficial veins of the breast and anterior chest wall it sometimes occurs in the arm or penis in axilla this condition is known as axillary web syndrome it is named after henri mondor 1885 1962 a surgeon in paris france who first described the disease in 1939
budd – chiari syndrome
budd – chiari syndrome is a condition caused by occlusion of the hepatic veins that drain the liver it presents with the classical triad of abdominal pain ascites and liver enlargement the formation of a blood clot within the hepatic veins can lead to budd – chiari syndrome it occurs in 1 out of a million individuals the syndrome can be fulminant acute chronic or asymptomatic
renal vein thrombosis
renal vein thrombosis rvt is the formation of a clot in the vein that drains blood from the kidneys ultimately leading to a reduction in the drainage of one or both kidneys and the possible migration of the clot to other parts of the body first described by german pathologist friedrich daniel von recklinghausen in 1861 rvt most commonly affects two subpopulations newly born infants with blood clotting abnormalities or dehydration and adults with nephrotic syndrome nephrotic syndrome a kidney disorder causes excessive loss of protein in the urine hypoalbuminemia hypercholesterolemia and edema triggering a hypercoagulable state and increasing chances of clot formation other less common causes include hypercoagulable state cancer renal transplantation behcet syndrome antiphos
paget – schroetter disease
paget – schroetter disease also known as paget – von schrötter disease is a form of upper extremity deep vein thrombosis dvt a medical condition in which blood clots form in the deep veins of the arms these dvts typically occur in the axillary or subclavian veins
varicose veins
varicose veins are veins that have become enlarged and twisted the term commonly refers to the veins on the leg although varicose veins can occur elsewhere veins have pairs of leaflet valves to prevent blood from flowing backwards retrograde flow or venous reflux leg muscles pump the veins to return blood to the heart the skeletal muscle pump against the effects of gravity when veins become varicose the leaflets of the valves no longer meet properly and the valves do not work valvular incompetence this allows blood to flow backwards and they enlarge even more varicose veins are most common in the superficial veins of the legs which are subject to high pressure when standing besides being a cosmetic problem varicose veins can be painful especially when standing severe l
venous ulcer
esophageal varices
in medicine gastroenterology esophageal varices or oesophageal varices are extremely dilated sub mucosal veins in the lower third of the esophagus they are most often a consequence of portal hypertension commonly due to cirrhosis patients with esophageal varices have a strong tendency to develop bleeding esophageal varices are diagnosed with endoscopy
varicocele
a varicocele is an abnormal enlargement of the pampiniform venous plexus in the scrotum this plexus of veins drains the testicles the testicular blood vessels originate in the abdomen and course down through the inguinal canal as part of the spermatic cord on their way to the testis upward flow of blood in the veins is ensured by small one way valves that prevent backflow defective valves or compression of the vein by a nearby structure can cause dilation of the testicular veins near the testis leading to the formation of a varicocele causes of varicocele include valvular incompetence nutcracker syndrome and renal cell carcinoma
caput medusae
caput medusae also known as palm tree sign is the appearance of distended and engorged superficial epigastric veins which are seen radiating from the umbilicus across the abdomen the name caput medusae latin for head of medusa originates from the apparent similarity to medusa s head which had venomous snakes in place of hair it is also a syndrome of portal hypertension it is caused by the paraumbilical veins which carries oxygenated blood from mother to fetus in utero and normally closes within one week of birth becoming re canalised due to portal hypertension caused by liver failure
superior vena cava syndrome
superior vena cava syndrome svcs is a group of symptoms caused by obstruction of the superior vena cava a short wide vessel carrying circulating blood into the heart more than 90 of cases of superior vena cava obstruction svco are caused by cancer most commonly bronchogenic carcinoma typically a tumor outside the vessel compressing the vessel wall but it can sometimes have a benign cause characteristic features are edema swelling due to excess fluid of the face and arms and development of swollen collateral veins on the front of the chest wall shortness of breath and coughing are quite common symptoms difficulty swallowing is reported in 11 of cases headache in 6 and stridor a high pitched wheeze in 4 the condition is rarely life threatening though edema of th
inferior vena cava syndrome
inferior vena cava syndrome ivcs is a result of obstruction of the inferior vena cava it can be caused by invasion or compression by a pathological process or by thrombosis in the vein itself it can also occur during pregnancy pregnancy can lead to problems with blood return due to high venous pressure in the lower limbs failure of blood return to the heart decreased cardiac output due to obstructions in inferior vena cava sudden rise in venous pressure which can lead to placental separation and a decrease in renal function all of these issues can arise from lying in the supine position during late pregnancy which can cause compression of the inferior vena cava symptoms of late pregnancy inferior vena cava syndrome consist of intense pain in the right hand side muscle twitching
inferior vena cava syndrome ivcs is a result of obstruction of the inferior vena cava it can be caused by invasion or compression by a pathological process or by thrombosis in the vein itself it can also occur during pregnancy pregnancy can lead to problems with blood return due to high venous pressure in the lower limbs failure of blood return to the heart decreased cardiac output due to obstructions in inferior vena cava sudden rise in venous pressure which can lead to placental separation and a decrease in renal function all of these issues can arise from lying in the supine position during late pregnancy which can cause compression of the inferior vena cava symptoms of late pregnancy inferior vena cava syndrome consist of intense pain in the right hand side muscle twitching drop of blood pressure and fluid retention
chronic venous insufficiency
chronic venous insufficiency cvi is a medical condition in which the veins cannot pump enough blood back to the heart the most common cause of cvi is superficial venous reflux which is a treatable condition as functional venous valves are required to provide for efficient blood return from the lower extremities this condition typically affects the legs if the impaired vein function causes significant symptoms such as swelling and ulcer formation it is referred to as chronic venous disease cvi includes varicose veins and superficial venous reflux hidden varicose veins it is sometimes called chronic peripheral venous insufficiency and should not be confused with post thrombotic syndrome in which the deep veins have been damaged by previous deep vein thrombosis
chronic cerebrospinal venous insufficiency
chronic cerebrospinal venous insufficiency ccsvi or ccvi is a term developed by italian researcher paolo zamboni in 2008 to describe compromised flow of blood in the veins draining the central nervous system zamboni hypothesized that it played a role in the cause or development of multiple sclerosis ms zamboni also devised a procedure which was termed by the media as liberation procedure or liberation therapy involving venoplasty or stenting of certain veins in an attempt to improve blood flow
chronic cerebrospinal venous insufficiency ccsvi or ccvi is a term developed by italian researcher paolo zamboni in 2008 to describe compromised flow of blood in the veins draining the central nervous system zamboni hypothesized that it played a role in the cause or development of multiple sclerosis ms zamboni also devised a procedure which was termed by the media as liberation procedure or liberation therapy involving venoplasty or stenting of certain veins in an attempt to improve blood flow within the medical community both the procedure and ccsvi itself have been met with skepticism zamboni s first published research was neither blinded nor did it have a comparison group zamboni also did not disclose his financial ties to esaote the manufacturer of the ultrasound specifically used in ccsvi diagnosis the liberation procedure has been criticized for possibly resulting in serious complications and deaths while its benefits have not been proven the united states food and drug administration states that it is not clear if ccsvi exists as a clinical entity and that these treatments may cause more harm research on ccsvi has been fast tracked but researchers have been unable to confirm whether ccsvi has a role in causing ms this has raised serious objections to the hypothesis of ccsvi originating multiple sclerosis additional research investigating the ccsvi hypothesis is underway a 2013 study found that ccsvi is equally rare in people with and without ms while narrowing of the cervical veins is equally common
lymphedema
lymphedema is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system which normally returns interstitial fluid to the thoracic duct then the bloodstream the condition can be inherited or can be caused by a birth defect though it is frequently caused by cancer treatments and by parasitic infections though incurable and progressive a number of treatments can ameliorate symptoms tissues with lymphedema are at high risk of infection
lymphangitis
lymphangitis is an inflammation or an infection of the lymphatic channels that occurs as a result of infection at a site distal to the channel the most common cause of lymphangitis in humans is streptococcus pyogenes group a strep although it can also be caused by the fungus sporothrix schenckii lymphangitis is sometimes mistakenly called blood poisoning in reality blood poisoning is synonymous with sepsis when the inferior limbs are affected the redness of the skin runs over the great saphenous vein location and confusion can be made with a thrombophlebitis
lymphangitis is an inflammation or an infection of the lymphatic channels that occurs as a result of infection at a site distal to the channel the most common cause of lymphangitis in humans is streptococcus pyogenes group a strep although it can also be caused by the fungus sporothrix schenckii lymphangitis is sometimes mistakenly called blood poisoning in reality blood poisoning is synonymous with sepsis signs and symptoms include a deep reddening of the skin warmth lymphadenitis inflammation of a lymphatic gland and a raised border around the affected area the person may also have chills and a high fever along with moderate pain and swelling a person with lymphangitis should be hospitalized and closely monitored by medical professionals lymphangitis is the inflammation of the lymphatic vessels and channels this is characterized by certain inflammatory conditions of the skin caused by bacterial infections thin red lines may be observed running along the course of the lymphatic vessels in the affected area accompanied by painful enlargement of the nearby lymph nodes when the inferior limbs are affected the redness of the skin runs over the great saphenous vein location and confusion can be made with a thrombophlebitis chronic lymphangitis is a cutaneous condition that is the result of recurrent bouts of acute bacterial lymphangitis
lymphocele
a lymphocele is a collection of lymphatic fluid within the body not bordered by epithelial lining it is usually a surgical complication seen after extensive pelvic surgery such as cancer surgery and is most commonly found in the retroperitoneal space spontaneous development is rare
chylothorax
a chylothorax or chyle leak is a type of pleural effusion it results from lymph formed in the digestive system called chyle accumulating in the pleural cavity due to either disruption or obstruction of the thoracic duct in people on a normal diet this effusion can be identified by its turbid milky white appearance since chyle contains high levels of triglycercides it is important to distinguish chylothorax from pseudochylothorax pleural effusions high in cholesterol which has a similar appearance but is caused by more chronic inflammatory processes and has a different treatment
hypotension
hypotension is low blood pressure especially in the arteries of the systemic circulation blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps out blood hypotension is generally considered if systolic blood pressure less than 90 millimeters of mercury mm hg or diastolic less than 60 mm hg however in practice blood pressure is considered too low only if noticeable symptoms are present
hypotension is low blood pressure especially in the arteries of the systemic circulation blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps out blood hypotension is generally considered if systolic blood pressure less than 90 millimeters of mercury mm hg or diastolic less than 60 mm hg however in practice blood pressure is considered too low only if noticeable symptoms are present hypotension is the opposite of hypertension which is high blood pressure it is best understood as a physiological state rather than a disease severely low blood pressure can deprive the brain and other vital organs of oxygen and nutrients leading to a life threatening condition called shock though often associated with shock hypotension is not necessarily indicative of it for some people who exercise and are in top physical condition low blood pressure is a sign of good health and fitness for many people excessively low blood pressure can cause dizziness and fainting or indicate serious heart endocrine or neurological disorders
common cold
common cold also known simply as a cold is a viral infectious disease of the upper respiratory tract that primarily affects the nose the throat sinuses and voice box may also be affected signs and symptoms may begin less than two days following exposure they include coughing sore throat runny nose sneezing headache and fever people usually recover in seven to ten days some symptoms may last up to three weeks in those with other health problems pneumonia may occasionally develop
common cold also known simply as a cold is a viral infectious disease of the upper respiratory tract that primarily affects the nose the throat sinuses and voice box may also be affected signs and symptoms may begin less than two days following exposure they include coughing sore throat runny nose sneezing headache and fever people usually recover in seven to ten days some symptoms may last up to three weeks in those with other health problems pneumonia may occasionally develop well over 200 virus strains are implicated in the cause of the common cold the rhinoviruses are the most common they spread through the air during close contact with infected people and indirectly through contact with objects in the environment followed by transfer to the mouth or nose risk factors include going to daycare not sleeping well and psychological stress symptoms are mostly due to the body s immune response to the infection rather than to tissue destruction by the viruses themselves people with influenza often show similar symptoms as people with a cold though symptoms are usually more severe in the former there is no vaccine for the common cold the primary methods of prevention are hand washing not touching the eyes nose or mouth with unwashed hands and staying away from other sick people some evidence supports the use of face masks no cure for the common cold exists but the symptoms can be treated nonsteroidal anti inflammatory drugs nsaids such as ibuprofen may help with pain antibiotics should not be used evidence does not support a benefit from cough medicines the common cold is the most frequent infectious disease in humans the average adult gets two to four colds a year while the average child may get six to eight they occur more commonly during the winter these infections have been with humanity since ancient times
sinusitis
sinusitis also known as a sinus infection or rhinosinusitis is inflammation of the sinuses resulting in symptoms common signs and symptoms include thick nasal mucus a plugged nose and pain in the face other signs and symptoms may include fever headaches poor sense of smell sore throat and cough the cough is often worse at night serious complications are rare it is defined as acute rhinosinusitis ars if it lasts less than 4 weeks and as chronic rhinosinusitis crs if it lasts for more than 12 weeks
pharyngitis
pharyngitis is inflammation of the back of the throat known as the pharynx it typically results in a sore throat and fever other symptoms may include a runny nose cough headache a hoarse voice symptoms usually last three to five days complications can include sinusitis and acute otitis media pharyngitis is typically a type of respiratory tract infection
tonsillitis
tonsillitis is inflammation of the tonsils typically of rapid onset it is a type of pharyngitis symptoms may include sore throat fever enlargement of the tonsils trouble swallowing and large lymph nodes around the neck complications include peritonsillar abscess
laryngitis
laryngitis is an inflammation of the larynx it causes hoarse voice or temporary loss of the voice due to irritation of the vocal folds vocal cords laryngitis is one possible cause of dysphonia the medical term for a vocal disorder laryngitis is categorised as acute if it lasts less than three weeks and chronic if it lasts over three weeks the chronic form occurs mostly in middle age and is much more common in men than women antibiotics do not appear to be very useful in the acute form
tracheitis
tracheitis is an inflammation of the trachea although the trachea is usually considered part of the lower respiratory tract in icd 10 tracheitis is classified under acute upper respiratory infections
epiglottitis
epiglottitis is inflammation of the epiglottis — the flap at the base of the tongue that keeps food from going into the trachea windpipe symptoms are usually rapid in onset and include trouble swallowing which can result in drooling changes to the voice fever and an increased breathing rate as the epiglottis is in the upper airway swelling can interfere with breathing people may lean forward in an effort to open the airway as the condition worsens stridor and bluish skin may occur
epiglottitis is inflammation of the epiglottis — the flap at the base of the tongue that keeps food from going into the trachea windpipe symptoms are usually rapid in onset and include trouble swallowing which can result in drooling changes to the voice fever and an increased breathing rate as the epiglottis is in the upper airway swelling can interfere with breathing people may lean forward in an effort to open the airway as the condition worsens stridor and bluish skin may occur epiglottitis was historically mostly caused by infection by h influenzae type b with vaccination it is now more often caused by other bacteria other possible causes include burns and trauma to the area the most accurate way to make the diagnosis is to look directly at the epiglottis x rays of the neck from the side may show a thumbprint sign but the lack of this sign does not mean the condition is absent an effective vaccine the hib vaccine has been available since the 1980 s the antibiotic rifampin may also be used to prevent the disease among those who have been exposed to the disease and are at high risk the most important part of treatment involves securing the airway which is often done by endotracheal intubation intravenous antibiotics such as ceftriaxone and possibly vancomycin or clindamycin is then given corticosteroids are also typically used with appropriate treatment the risk of death among children with the condition is about one percent and among adults is seven percent with the use of the hib vaccine the number of cases of epiglottitis has decreased by more than 95 while historically young children were mostly affected it is now more common among older children and adults in the united states it affects about 1 3 per 100 000 children a year in adults between 1 and 4 per 100 000 are affected a year it occurs more commonly in the developing world
swine influenza
swine influenza also called pig influenza swine flu hog flu and pig flu is an infection caused by any one of several types of swine influenza viruses swine influenza virus siv or swine origin influenza virus s oiv is any strain of the influenza family of viruses that is endemic in pigs as of 2009 the known siv strains include influenza c and the subtypes of influenza a known as h 1 n 1 h 1 n 2 h 2 n 1 h 3 n 1 h 3 n 2 and h 2 n 3 in august 2010 the world health organization declared the swine flu pandemic officially over
influenza
flu and grippe redirect here for other uses see flu disambiguation and grippe disambiguation influenza commonly known as the flu is an infectious disease caused by an influenza virus symptoms can be mild to severe the most common symptoms include a high fever runny nose sore throat muscle pains headache coughing and feeling tired these symptoms typically begin two days after exposure to the virus and most last less than a week the cough however may last for more than two weeks in children there may be nausea and vomiting but these are not common in adults nausea and vomiting occur more commonly in the unrelated infection gastroenteritis which is sometimes inaccurately referred to as stomach flu or 24 hour flu complications of influenza may include vi
pneumonia
pneumonia is an inflammatory condition of the lung affecting primarily the microscopic air sacs known as alveoli typical signs and symptoms include a varying severity and combination of productive or dry cough chest pain fever and trouble breathing depending on the underlying cause
acute bronchitis
acute bronchitis also known as a chest cold is short term inflammation of the bronchi large and medium sized airways of the lungs the most common symptom is a cough other symptoms include coughing up mucus wheezing shortness of breath fever and chest discomfort the infection may last from a few to ten days the cough may persist for several weeks afterwards with the total duration of symptoms usually around three weeks some have symptoms for up to six weeks
bronchitis
bronchitis is inflammation of the bronchi large and medium sized airways in the lungs symptoms include coughing up mucus wheezing shortness of breath and chest discomfort bronchitis is divided into two types acute and chronic acute bronchitis is also known as a chest cold acute bronchitis is one of the most common diseases about 5 of adults are affected and about 6 of children have at least one episode a year in 2010 copd affects 329 million people or nearly 5 of the global population in 2013 it resulted in 2 9 million deaths up from 2 4 million deaths in 1990
bronchiolitis
bronchiolitis is inflammation of the bronchioles the smallest air passages of the lungs it usually occurs in children less than two years of age with the majority being aged between three and six months it presents with coughing wheezing and shortness of breath which can cause some children difficulty in feeding this inflammation is usually caused by respiratory syncytial virus 70 of cases and is much more common in the winter months
chronic atrophic rhinitis
nasal polyp
nasal polyps np are non cancerous growths within the nose or sinuses symptoms include trouble breathing through the nose loss of smell decreased taste post nasal drip and a runny nose the growths are sac like movable and nontender they typically occur in both nostrils in those who are affected face pain may occasionally occur complications may include sinusitis
nasal polyps np are non cancerous growths within the nose or sinuses symptoms include trouble breathing through the nose loss of smell decreased taste post nasal drip and a runny nose the growths are sac like movable and nontender they typically occur in both nostrils in those who are affected face pain may occasionally occur complications may include sinusitis the exact cause is unclear they occur more commonly among people who have allergies cystic fibrosis aspirin sensitivity or certain infections they are overgrowths of the mucous membranes diagnosis may occur by looking up the nose and a ct scan may be used to help plan treatment treatment is typically with steroids often in the form of a nasal spray if this is not effective surgery may be considered the condition may recur following surgery antihistamines may help with symptoms but do not change the underlying disease antibiotics are not required unless complications occur about 4 of people currently have nasal polyps while up to 40 of people develop them at some point in their life they most often occur after the age of 20 and are more frequent in males than females
nasal septum deviation
nasal septum deviation or deviated nasal septum dns is a physical disorder of the nose involving a displacement of the nasal septum some displacement is common affecting 80 of people most unknowingly
rhinolith
a rhinolith is a calculus present in the nasal cavity the word is derived from the roots rhino and lith literally meaning nose stone it is an uncommon medical phenomenon not to be confused with dried nasal mucus a rhinolith usually forms around the nucleus of a small exogenous foreign body blood clot or secretion by slow deposition of calcium and magnesium salts over a period of time they grow into large irregular masses that fill the nasal cavity they may cause pressure necrosis of the nasal septum or lateral wall of nose rhinoliths can cause nasal obstruction epistaxis headache sinusitis and epiphora they can be diagnosed from the history with unilateral foul smelling blood stained nasal discharge or by anterior rhinoscopy on probing probe can be passed around all its
adenoid hypertrophy
adenoid hypertrophy or enlarged adenoids is the unusual growth hypertrophy of the adenoid tonsil first described by the danish physician wilhelm meyer 1824 1895 in copenhagen in 1868 he described that a long term adenoid hypertrophy will cause an obstruction of the nasal airways these will lead to a dentofacial growth anomaly that was defined as adenoid facies see long face syndrome
adenoid hypertrophy or enlarged adenoids is the unusual growth hypertrophy of the adenoid tonsil first described by the danish physician wilhelm meyer 1824 1895 in copenhagen in 1868 he described that a long term adenoid hypertrophy will cause an obstruction of the nasal airways these will lead to a dentofacial growth anomaly that was defined as adenoid facies see long face syndrome there is very little lymphoid tissue in the nasopharynx of young babies humans are born without substantial adenoids the mat of lymphoid tissue called adenoids starts to get sizable during the first year of life just how big the adenoids become is quite variable between individual children
peritonsillar abscess
unlike tonsillitis which is more common in the pediatric age group pta has a more even age spread from children to adults symptoms start appearing two to eight days before the formation of an abscess a progressively severe sore throat on one side and pain during swallowing odynophagia usually are the earliest symptoms as the abscess develops persistent pain in the peritonsillar area fever a general sense of feeling unwell headache and a distortion of vowels informally known as hot potato voice may appear neck pain associated with tender swollen lymph nodes referred ear pain and foul breath are also common while these signs may be present in tonsillitis itself a pta should be specifically considered if there is limited ability to open the mouth trismus
vocal fold paresis
recurrent laryngeal nerve paralysis also called vocal fold paralysis or paresis is the medical term describing an injury to one or both recurrent laryngeal nerves rlns which control all muscles of the larynx except for the cricothyroid muscle the rln is important for vocalization breathing and swallowing
vocal fold nodule
a vocal fold nodule is a mass of tissue that grows on a vocal fold typically this mass appears on the junction of the anterior 1 3 and posterior 2 3 of the vocal fold where contact is most forceful a vocal fold nodule reduces the ability of the vocal folds to create the rapid changes in air pressure which generate human speech symptoms include hoarseness painful speech production frequent vocal breaks and reduced vocal range hoarseness or breathiness that lasts for more than two weeks may signal a voice disorder and should be followed up with an otolaryngologist
vocal cord dysfunction
reinke s edema
reinke s edema also known as polypoid degeneration polypoid corditis and edematous hyptertrophy is the swelling of the vocal cords due to fluid edema collected within the reinke s space first identified by the german anatomist friedrich b reinke in 1895 the reinke s space is a gelatinous layer of the vocal cord located underneath the outer cells of the vocal cord when a person speaks the reinke s space vibrates to allow for sound to be produced phonation the reinke s space is sometimes referred to as the superficial lamina propria
reinke s edema also known as polypoid degeneration polypoid corditis and edematous hyptertrophy is the swelling of the vocal cords due to fluid edema collected within the reinke s space first identified by the german anatomist friedrich b reinke in 1895 the reinke s space is a gelatinous layer of the vocal cord located underneath the outer cells of the vocal cord when a person speaks the reinke s space vibrates to allow for sound to be produced phonation the reinke s space is sometimes referred to as the superficial lamina propria reinke s edema is characterized by the sac like appearance of the fluid filled vocal cords the swelling of the vocal folds causes the voice to become deep and hoarse therefore the major symptom of reinke s edema is a hoarseness similar to laryngitis the major cause associated with reinke s edema is smoking in fact 97 of patient s diagnosed with reinke s edema are habitual smokers other identified risk factors include overuse of the vocal cords gastroesophageal reflux and hypothyroidism the disease is more often cited in women than in men because lower voice changes are more noticeable in women the first cases of reinke s edema were recorded in 1891 by m hajek followed by f reinke in 1895 in his investigations reinke injected a stained glue into the superficial lamina propria reinke s space to mimic edema reinke s edema is considered to be a benign non cancercous polyp protrusion that represents 10 of all benign laryngeal pathologies treatment of reinke ’ s edema starts with the elimination of associated risk factors such as smoking gastric reflux and hypothyroidism advanced cases may undergo phonosurgery to remove the fluid from the vocal cords
laryngospasm
in medicine laryngospasm is an uncontrolled involuntary muscular contraction spasm of the vocal folds the condition typically lasts less than 60 seconds but in some cases can last 20 30 minutes and causes a partial blocking of breathing in while breathing out remains easier it may be triggered when the vocal cords or the area of the trachea below the vocal folds detects the entry of water mucus blood or other substance it is characterized by stridor and or retractions some people suffer from frequent laryngospasms whether awake or asleep in an ear nose and throat practice it is typically seen in people who have silent reflux disease it is also a well known infrequent but serious perioperative complication
chronic obstructive pulmonary disease
chronic obstructive pulmonary disease copd is a type of obstructive lung disease characterized by long term poor airflow the main symptoms include shortness of breath and cough with sputum production copd typically worsens over time eventually walking up stairs or carrying things will be difficult chronic bronchitis and emphysema are older terms used for different types of copd the term chronic bronchitis is still used to define a productive cough that is present for at least three months each year for two years
asthma
asthma is a common long term inflammatory disease of the airways of the lungs it is characterized by variable and recurring symptoms reversible airflow obstruction and bronchospasm symptoms include episodes of wheezing coughing chest tightness and shortness of breath these episodes may occur a few times a day or a few times per week depending on the person they may become worse at night or with exercise
asthma is a common long term inflammatory disease of the airways of the lungs it is characterized by variable and recurring symptoms reversible airflow obstruction and bronchospasm symptoms include episodes of wheezing coughing chest tightness and shortness of breath these episodes may occur a few times a day or a few times per week depending on the person they may become worse at night or with exercise asthma is thought to be caused by a combination of genetic and environmental factors environmental factors include exposure to air pollution and allergens other potential triggers include medications such as aspirin and beta blockers diagnosis is usually based on the pattern of symptoms response to therapy over time and spirometry asthma is classified according to the frequency of symptoms forced expiratory volume in one second fev 1 and peak expiratory flow rate it may also be classified as atopic or non atopic where atopy refers to a predisposition toward developing a type 1 hypersensitivity reaction there is no cure for asthma symptoms can be prevented by avoiding triggers such as allergens and irritants and by the use of inhaled corticosteroids long acting beta agonists laba or antileukotriene agents may be used in addition to inhaled corticosteroids if asthma symptoms remain uncontrolled treatment of rapidly worsening symptoms is usually with an inhaled short acting beta 2 agonist such as salbutamol and corticosteroids taken by mouth in very severe cases intravenous corticosteroids magnesium sulfate and hospitalization may be required in 2013 242 million people globally had asthma up from 183 million in 1990 it caused about 489 000 deaths in 2013 most of which occurred in the developing world it often begins in childhood the rates of asthma have increased significantly since the 1960 s asthma was recognized as early as ancient egypt the word asthma is from the greek ἅσθμα ásthma which means panting
acute severe asthma
acute severe asthma also referred to in latin as status asthmaticus or asthmatic status is an acute exacerbation of asthma that does not respond to standard treatments of bronchodilators inhalers and steroids symptoms include chest tightness rapidly progressive dyspnea shortness of breath dry cough use of accessory respiratory muscles labored breathing and extreme wheezing it is a life threatening episode of airway obstruction and is considered a medical emergency complications include cardiac and or respiratory arrest
acute severe asthma also referred to in latin as status asthmaticus or asthmatic status is an acute exacerbation of asthma that does not respond to standard treatments of bronchodilators inhalers and steroids symptoms include chest tightness rapidly progressive dyspnea shortness of breath dry cough use of accessory respiratory muscles labored breathing and extreme wheezing it is a life threatening episode of airway obstruction and is considered a medical emergency complications include cardiac and or respiratory arrest it is characterized histologically by smooth muscle hypertrophy and basement membrane thickening
bronchiectasis
bronchiectasis is a disease in which there is permanent enlargement of parts of the airways of the lung symptoms typically include a chronic cough productive of mucus other symptoms include shortness of breath coughing up blood and chest pain wheezing and nail clubbing may also occur those with the disease often get frequent lung infections
coalworker s pneumoconiosis
coal workers pneumoconiosis cwp also known as black lung disease or black lung is caused by long exposure to coal dust it is common in coal miners and others who work with coal it is similar to both silicosis from inhaling silica dust and to the long term effects of tobacco smoking inhaled coal dust progressively builds up in the lungs and cannot be removed by the body this leads to inflammation fibrosis and in worse cases necrosis in 2013 cwp resulted in 25 000 deaths down from 29 000 deaths in 1990
coal workers pneumoconiosis cwp also known as black lung disease or black lung is caused by long exposure to coal dust it is common in coal miners and others who work with coal it is similar to both silicosis from inhaling silica dust and to the long term effects of tobacco smoking inhaled coal dust progressively builds up in the lungs and cannot be removed by the body this leads to inflammation fibrosis and in worse cases necrosis coal workers pneumoconiosis severe state develops after the initial milder form of the disease known as anthracosis anthrac — coal carbon this is often asymptomatic and is found to at least some extent in all urban dwellers due to air pollution prolonged exposure to large amounts of coal dust can result in more serious forms of the disease simple coal workers pneumoconiosis and complicated coal workers pneumoconiosis or progressive massive fibrosis or pmf more commonly workers exposed to coal dust develop industrial bronchitis clinically defined as chronic bronchitis i e productive cough for 3 months per year for at least 2 years associated with workplace dust exposure the incidence of industrial bronchitis varies with age job exposure and smoking in nonsmokers who are less prone to develop bronchitis than smokers studies of coal miners have shown a 16 to 17 incidence of industrial bronchitis in 2013 cwp resulted in 25 000 deaths down from 29 000 deaths in 1990
pneumoconiosis
asbestosis
asbestosis is a chronic inflammatory and scarring disease affecting the tissue of the lungs people with the condition may experience severe shortness of breath and are at an increased risk for certain cancers including lung cancer and less commonly mesothelioma asbestosis specifically refers to fibrosis within the lung tissue from asbestos and not scarring around the outside of the lungs
silicosis
silicosis previously miner s phthisis grinder s asthma potter s rot and other occupation related names is a form of occupational lung disease caused by inhalation of crystalline silica dust and is marked by inflammation and scarring in the form of nodular lesions in the upper lobes of the lungs it is a type of pneumoconiosis silicosis particularly the acute form is characterized by shortness of breath cough fever and cyanosis bluish skin it may often be misdiagnosed as pulmonary edema fluid in the lungs pneumonia or tuberculosis
berylliosis
berylliosis or chronic beryllium disease cbd is a chronic allergic type lung response and chronic lung disease caused by exposure to beryllium and its compounds a form of beryllium poisoning it is distinct from acute beryllium poisoning which became rare following occupational exposure limits established around 1950 berylliosis is an occupational lung disease the condition is incurable but symptoms can be treated
siderosis
byssinosis
byssinosis also called brown lung disease or monday fever is an occupational lung disease caused by exposure to cotton dust in inadequately ventilated working environments byssinosis commonly occurs in workers who are employed in yarn and fabric manufacture industries it is now thought that the cotton dust directly causes the disease and some believe that the causative agents are endotoxins that come from the cell walls of gram negative bacteria that grow on the cotton although bacterial endotoxin is a likely cause the absence of similar symptoms in workers in other industries exposed to endotoxins makes this uncertain
bird fancier s lung
bird fancier s lung is a type of hypersensitivity pneumonitis caused by bird droppings the lungs become inflamed with granuloma formation bird fancier s lung bfl also called bird breeder s lung and pigeon breeder s lung is a subset of hypersensitivity pneumonitis hp this disease is caused by the exposure to avian proteins present in the dry dust of the droppings and sometimes in the feathers of a variety of birds birds such as pigeons parakeets cockatiels shell parakeets budgerigars parrots turtle doves turkeys and chickens have been implicated
aspiration pneumonia
radiation induced lung injury
pulmonary radiation injury is a general term for damage to the lungs which occurs as a result of exposure to ionizing radiation in general terms such damage is divided into early inflammatory damage radiation pneumonitis and later complications of chronic scarring radiation fibrosis pulmonary radiation injury most commonly occurs as a result of radiation therapy administered to treat cancer the lungs are a radiosensitive organ and radiation pneumonitis can occur leading to pulmonary insufficiency and death 100 after exposure to 50 gray of radiation in a few months
acute respiratory distress syndrome
acute respiratory distress syndrome ards is a medical condition occurring in critically ill patients characterized by widespread inflammation in the lungs ards is not a particular disease rather it is a clinical phenotype which may be triggered by various pathologies such as trauma pneumonia and sepsis the hallmark of ards is diffuse injury to cells which form the alveolar barrier surfactant dysfunction activation of the innate immune response and abnormal coagulation in effect ards results in impaired gas exchange within the lungs at the level of the microscopic alveoli
löffler s syndrome
löffler s syndrome or loeffler s syndrome is a disease in which eosinophils accumulate in the lung in response to a parasitic infection it was first described in 1932 by wilhelm löffler in cases of eosinophilic pneumonia caused by the parasites ascaris lumbricoides strongyloides stercoralis and the hookworms ancylostoma duodenale and necator americanus
löffler s syndrome or loeffler s syndrome is a disease in which eosinophils accumulate in the lung in response to a parasitic infection it was first described in 1932 by wilhelm löffler in cases of eosinophilic pneumonia caused by the parasites ascaris lumbricoides strongyloides stercoralis and the hookworms ancylostoma duodenale and necator americanus although löffler only described eosinophilic pneumonia in the context of infection many authors give the term löffler s syndrome to any form of acute onset pulmonary eosinophilia no matter what the underlying cause if the cause is unknown it is specified and called simple pulmonary eosinophilia cardiac damage caused by the damaging effects of eosinophil granule proteins ex major basic protein is known as loeffler endocarditis and can be caused by idiopathic eosinophilia or eosinophilia in response to parasitic infection
pulmonary alveolar proteinosis
acute interstitial pneumonitis
acute interstitial pneumonitis also known as acute interstitial pneumonia or hamman – rich syndrome is a rare severe lung disease that usually affects otherwise healthy individuals there is no known cause or cure acute interstitial pneumonitis is often categorized as both an interstitial lung disease and a form of acute respiratory distress syndrome ards but it is distinguished from the chronic forms of interstitial pneumonia such as idiopathic pulmonary fibrosis
pulmonary fibrosis
pulmonary fibrosis literally scarring of the lungs is a respiratory disease in which scars are formed in the lung tissues leading to serious breathing problems scar formation the accumulation of excess fibrous connective tissue the process called fibrosis leads to thickening of the walls and causes reduced oxygen supply in the blood as a consequence patients suffer from perpetual shortness of breath
pulmonary fibrosis literally scarring of the lungs is a respiratory disease in which scars are formed in the lung tissues leading to serious breathing problems scar formation the accumulation of excess fibrous connective tissue the process called fibrosis leads to thickening of the walls and causes reduced oxygen supply in the blood as a consequence patients suffer from perpetual shortness of breath in some patients the specific cause of the disease can be diagnosed but in others the probable cause cannot be determined a condition called idiopathic pulmonary fibrosis there is no known cure for the scars and damage in the lung due to pulmonary fibrosis
idiopathic pulmonary fibrosis
idiopathic pulmonary fibrosis ipf is a chronic and ultimately fatal disease characterized by a progressive decline in lung function the term pulmonary fibrosis means scarring of lung tissue and is the cause of worsening dyspnea shortness of breath fibrosis is usually associated with a poor prognosis treatment may include nintedanib or pirfenidone
idiopathic pulmonary fibrosis ipf is a chronic and ultimately fatal disease characterized by a progressive decline in lung function the term pulmonary fibrosis means scarring of lung tissue and is the cause of worsening dyspnea shortness of breath fibrosis is usually associated with a poor prognosis ipf belongs to a large group of more than 200 lung diseases known as interstitial lung diseases ilds characterized by the involvement of lung interstitium the interstitium the tissue between the air sacs in the lung is the primary site of injury in ilds however these disorders frequently affect not only the interstitium but also the airspaces peripheral airways and vessels lung tissue from people with ipf shows a characteristic histopathologic pattern known as usual interstitial pneumonia uip uip is therefore the pathologic counterpart of ipf the term idiopathic is used because the cause of pulmonary fibrosis is still unknown ipf usually occurs in adult individuals of between 50 and 70 years of age particularly those with a history of cigarette smoking and affects more men than women the diagnosis of ipf requires exclusion of other known causes of ilds and the presence of a typical radiological pattern identified through high resolution computed tomography hrct in the right clinical setting it is possible to make the diagnosis of ipf by hrct alone obviating the need for surgical lung biopsy treatment may include nintedanib or pirfenidone
lymphangioleiomyomatosis
lymphangioleiomyomatosis lam is a rare progressive and systemic disease that typically results in cystic lung destruction and predominantly affects women especially during childbearing years it occurs in more than 30 of women with tuberous sclerosis complex tsc lam a heritable syndrome that is associated with seizures cognitive impairment and benign tumors in multiple tissues most lam patients who present for medical evaluation have the sporadic form of the disease s lam however which is not associated with other manifestations of tuberous sclerosis complex
interstitial lung disease
interstitial lung disease ild or diffuse parenchymal lung disease dpld is a group of lung diseases affecting the interstitium the tissue and space around the air sacs of the lungs it concerns alveolar epithelium pulmonary capillary endothelium basement membrane perivascular and perilymphatic tissues it may occur when an injury to the lungs triggers an abnormal healing response ordinarily the body generates just the right amount of tissue to repair damage but in interstitial lung disease the repair process goes awry and the tissue around the air sacs alveoli becomes scarred and thickened this makes it more difficult for oxygen to pass into the bloodstream the term ild is used to distinguish these diseases from obstructive airways diseases
pleural empyema
pleural empyema also known as pyothorax or purulent pleuritis is empyema an accumulation of pus in the pleural cavity that can develop when bacteria invade the pleural space usually in the context of a pneumonia it is one of various kinds of pleural effusion there are three stages exudative when there is an increase in pleural fluid with or without the presence of pus fibrinopurulent when fibrous septa form localized pus pockets and the final organizing stage when there is scarring of the pleura membranes with possible inability of the lung to expand simple pleural effusions occur in up to 40 of bacterial pneumonias they are usually small and resolve with appropriate antibiotic therapy if however an empyema develops additional intervention is required
pleurisy
pleurisy also known as pleuritis is an inflammation of the pleurae the membranes of the pleural cavity surrounding the lungs there are many possible causes of pleurisy but viral infections spreading from the lungs to the pleural cavity are the most common the inflamed pleural layers rub against each other every time the lungs expand to breathe in air this can cause sharp pain when breathing also called pleuritic chest pain the condition may either be primary or secondary and is often associated with a pleural effusion
pleural effusion
pneumothorax
a pneumothorax is an abnormal collection of air in the pleural space that causes an uncoupling of the lung from the chest wall like a pleural effusion liquid buildup in that space a pneumothorax may interfere with normal breathing symptoms typically include chest pain and shortness of breath it is often called a collapsed lung although that term may also refer to atelectasis one or both lungs may be affected
a pneumothorax is an abnormal collection of air in the pleural space that causes an uncoupling of the lung from the chest wall like a pleural effusion liquid buildup in that space a pneumothorax may interfere with normal breathing symptoms typically include chest pain and shortness of breath it is often called a collapsed lung although that term may also refer to atelectasis one or both lungs may be affected a primary pneumothorax is one that occurs without an apparent cause and in the absence of significant lung disease while a secondary pneumothorax occurs in the presence of existing lung disease a pneumothorax can be caused by physical trauma to the chest including a blast injury or as a complication of a healthcare intervention in which case it is called a traumatic pneumothorax in a minority of cases the amount of air in the chest increases markedly when a one way valve is formed by an area of damaged tissue leading to a tension pneumothorax this condition can cause a steadily worsening oxygen shortage and low blood pressure unless reversed by effective treatment it can result in death diagnosis of a pneumothorax by physical examination alone can be difficult particularly in smaller pneumothoraces a chest x ray computed tomography ct scan or ultrasound is usually used to confirm its presence small spontaneous pneumothoraces typically resolve without treatment and require only monitoring this approach may be most appropriate in people who have no underlying lung disease in a larger pneumothorax or when there are marked symptoms the air may be removed with a syringe or a chest tube connected to a one way valve system occasionally surgery may be required if tube drainage is unsuccessful or as a preventive measure if there have been repeated episodes the surgical treatments usually involve pleurodesis in which the layers of pleura are induced to stick together or pleurectomy the surgical removal of pleural membranes
hemothorax
hemopneumothorax
hemopneumothorax or haemopneumothorax is a medical term describing the combination of two conditions pneumothorax or air in the chest cavity and hemothorax also called hæmothorax or blood in the chest cavity
hemopneumothorax or haemopneumothorax is a medical term describing the combination of two conditions pneumothorax or air in the chest cavity and hemothorax also called hæmothorax or blood in the chest cavity a hemothorax pneumothorax or both can occur if the chest wall is punctured to understand the ramifications of this it is important to have an understanding of the role of the pleural space the pleural space is located anatomically between the visceral membrane which is firmly attached to the lungs and the parietal membrane which is firmly attached to the chest wall aka ribcage and intercostal muscles muscles between the ribs the pleural space contains pleural fluid this fluid holds the two membranes together by surface tension as much as a drop of water between two sheets of glass prevents them from separating because of this when the intercostal muscles move the ribcage outward the lungs are pulled out as well dropping the pressure in the lungs and pulling air into the bronchi when we breathe in the pleural space is maintained in a constant state of negative pressure in comparison to atmospheric pressure if the chest wall and thus the pleural space is punctured blood air or both can enter the pleural space air blood rushes into the space in order to equalise the pressure with that of the atmosphere as a result the fluid is disrupted and the two membranes no longer adhere to each other when the rib cage moves out it no longer pulls the lungs with it thus the lungs cannot expand the pressure in the lungs never drops and no air is pulled into the bronchi respiration is not possible the affected lung which has a great deal of elastic tissue shrivels in what is referred to as a collapsed lung
hydrothorax
tracheoesophageal fistula
a tracheoesophageal fistula tef or tof see spelling differences is an abnormal connection fistula between the esophagus and the trachea tef is a common congenital abnormality but when occurring late in life is usually the sequela of surgical procedures such as a laryngectomy
respiratory failure
respiratory failure results from inadequate gas exchange by the respiratory system meaning that the arterial oxygen carbon dioxide or both cannot be kept at normal levels a drop in the oxygen carried in blood is known as hypoxemia a rise in arterial carbon dioxide levels is called hypercapnia respiratory failure is classified as either type i or type ii based on whether there is a high carbon dioxide level the definition of respiratory failure in clinical trials usually includes increased respiratory rate abnormal blood gases hypoxemia hypercapnia or both and evidence of increased work of breathing
primary ciliary dyskinesia
primary ciliary dyskinesia pcd also immotile ciliary syndrome or kartagener syndrome is a rare ciliopathic autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract lower and upper sinuses eustachian tube middle ear and fallopian tube as well as in the flagella of sperm cells the phrase immotile ciliary syndrome is no longer favored as the cilia do have movement but may be inefficient or unsynchronized
primary ciliary dyskinesia pcd also immotile ciliary syndrome or kartagener syndrome is a rare ciliopathic autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract lower and upper sinuses eustachian tube middle ear and fallopian tube as well as in the flagella of sperm cells the phrase immotile ciliary syndrome is no longer favored as the cilia do have movement but may be inefficient or unsynchronized respiratory epithelial motile cilia which resemble microscopic hairs although structurally and biologically unrelated to hair are complex organelles that beat synchronously in the respiratory tract moving mucus toward the throat normally cilia beat 7 to 22 times per second and any impairment can result in poor mucociliary clearance with subsequent upper and lower respiratory infection cilia also are involved in other biological processes such as nitric oxide production which are currently the subject of dozens of research efforts as the functions of cilia become better understood the understanding of pcd should be expected to advance
atelectasis
atelectasis is the collapse or closure of a lung resulting in reduced or absent gas exchange it may affect part or all of a lung it is usually not bilateral it is a condition where the alveoli are deflated down to little or no volume as distinct from pulmonary consolidation in which they are filled with liquid
pneumomediastinum
pneumomediastinum from greek pneuma air also known as mediastinal emphysema is pneumatosis abnormal presence of air or other gas in the mediastinum first described in 1819 by rené laennec the condition can result from physical trauma or other situations that lead to air escaping from the lungs airways or bowel into the chest cavity
mediastinitis
mediastinitis is inflammation of the tissues in the mid chest or mediastinum it can be either acute or chronic acute mediastinitis is usually bacterial and due to rupture of organs in the mediastinum as the infection can progress rapidly this is considered a serious condition chronic sclerosing or fibrosing mediastinitis while potentially serious is caused by a long standing inflammation of the mediastinum leading to growth of acellular collagen and fibrous tissue within the chest and around the central vessels and airways it has a different cause treatment and prognosis than acute infectious mediastinitis
caplan s syndrome
hypodontia
in dentistry hypodontia is the condition at which the patient has missing teeth as a result of the failure of those teeth to develop also called tooth agenesis hypodontia describes a situation where the patient is missing up to five permanent teeth excluding the 3 rd molars missing third molars occur in 9 30 of studied populations in primary dentition the maxilla is more affected with the condition usually involving the maxillary lateral incisor
hyperdontia
hyperdontia is the condition of having supernumerary teeth or teeth that appear in addition to the regular number of teeth they can appear in any area of the dental arch and can affect any dental organ one of the most well know cases is johncris carl quirante of barangay looc dumanjug cebu who has 300 teeth
tooth gemination
tooth gemination is a dental phenomenon that appears to be two teeth developed from one there is one main crown with a cleft in it that within the cervical third of the crown looks like two teeth though it is not two teeth the number of the teeth in the arch will be normal
dental fluorosis
dental fluorosis also termed mottled enamel is an extremely common disorder characterized by hypomineralization of tooth enamel caused by ingestion of excessive fluoride during enamel formation it appears as a range of visual changes in enamel causing degrees of intrinsic tooth discoloration and in some cases physical damage to the teeth the severity of the condition is dependent on the dose duration and age of the individual during the exposure the very mild and most common form of fluorosis is characterized by small opaque paper white areas scattered irregularly over the tooth covering less than 25 of the tooth surface in the mild form of the disease these mottled patches can involve up to half of the surface area of the teeth when fluorosis is moderate all of
dental fluorosis also termed mottled enamel is an extremely common disorder characterized by hypomineralization of tooth enamel caused by ingestion of excessive fluoride during enamel formation it appears as a range of visual changes in enamel causing degrees of intrinsic tooth discoloration and in some cases physical damage to the teeth the severity of the condition is dependent on the dose duration and age of the individual during the exposure the very mild and most common form of fluorosis is characterized by small opaque paper white areas scattered irregularly over the tooth covering less than 25 of the tooth surface in the mild form of the disease these mottled patches can involve up to half of the surface area of the teeth when fluorosis is moderate all of the surfaces of the teeth are mottled and teeth may be ground down and brown stains frequently disfigure the teeth severe fluorosis is characterized by brown discoloration and discrete or confluent pitting brown stains are widespread and teeth often present a corroded looking appearance people with fluorosis are relatively resistant to dental caries tooth decay caused by bacteria although they may be of cosmetic concern in moderate to severe fluorosis teeth are physically damaged
amelogenesis imperfecta
amelogenesis imperfecta ai presents with a rare abnormal formation of the enamel or external layer of the crown of teeth enamel is composed mostly of mineral that is formed and regulated by the proteins in it amelogenesis imperfecta is due to the malfunction of the proteins in the enamel ameloblastin enamelin tuftelin and amelogenin
amelogenesis imperfecta ai presents with a rare abnormal formation of the enamel or external layer of the crown of teeth enamel is composed mostly of mineral that is formed and regulated by the proteins in it amelogenesis imperfecta is due to the malfunction of the proteins in the enamel ameloblastin enamelin tuftelin and amelogenin people afflicted with amelogenesis imperfecta have teeth with abnormal color yellow brown or grey this disorder can afflict any number of teeth of both dentitions the teeth have a higher risk for dental cavities and are hypersensitive to temperature changes as well as rapid attrition excessive calculus deposition and gingival hyperplasia
dentinogenesis imperfecta
dentinogenesis imperfecta di is a genetic disorder of tooth development this condition is a type of dentin dysplasia that causes teeth to be discolored most often a blue gray or yellow brown color and translucent giving teeth an opalescent sheen teeth are also weaker than normal making them prone to rapid wear breakage and loss these problems can affect both primary deciduous teeth and permanent teeth this condition is inherited in an autosomal dominant pattern which means one copy of the altered gene in each cell is sufficient to cause the disorder dentinogenesis imperfecta affects an estimated 1 in 6 000 to 8 000 people
dental caries
dental caries also known as tooth decay cavities or caries is a breakdown of teeth due to activities of bacteria the cavities may be a number of different colors from yellow to black symptoms may include pain and difficulty with eating complications may include inflammation of the tissue around the tooth tooth loss and infection or abscess formation
acid erosion
acid erosion also known as dental erosion is a type of tooth wear it is defined as the irreversible loss of tooth structure due to chemical dissolution by acids not of bacterial origin dental erosion is the most common chronic disease of children ages 5 – 17 although it is only relatively recently that it has been recognised as a dental health problem there is generally widespread ignorance of the damaging effects of acid erosion this is particularly the case with erosion due to fruit juices because they tend to be seen as healthy erosion is found initially in the enamel and if unchecked may proceed to the underlying dentin
pulpitis
pulpitis is inflammation of dental pulp tissue the pulp contains the blood vessels the nerves and connective tissue inside a tooth and provides the tooth ’ s blood and nutrients pulpitis is mainly caused by bacteria infection which itself is a secondary development of caries tooth decay it manifests itself in the form of a toothache
gingivitis
gingivitis inflammation of the gum tissue is a non destructive disease that occurs around the teeth the most common form of gingivitis and the most common form of periodontal disease overall is in response to bacterial biofilms also called plaque that is attached to tooth surfaces termed plaque induced gingivitis while some cases of gingivitis never progress to periodontitis data indicate that periodontitis is always preceded by gingivitis
periodontitis
periodontitis also known as pyorrhea is a set of inflammatory diseases affecting the periodontium i e the tissues that surround and support the teeth periodontitis involves progressive loss of the alveolar bone around the teeth and if left untreated can lead to the loosening and subsequent loss of teeth periodontitis is caused by microorganisms that adhere to and grow on the tooth s surfaces along with an over aggressive immune response against these microorganisms a diagnosis of periodontitis is established by inspecting the soft gum tissues around the teeth with a probe i e a clinical examination and by evaluating the patient s x ray films i e a radiographic examination to determine the amount of bone loss around the teeth specialists in the treatment of periodontiti
gingival enlargement
gingival enlargement also termed gingival overgrowth hypertrophic gingivitis gingival hyperplasia or gingival hypertrophy and sometimes abbreviated to go is an increase in the size of the gingiva gums it is a common feature of gingival disease gingival enlargement can be caused by a number of factors including inflammatory conditions and the side effects of certain medications the treatment is based on the cause a closely related term is epulis denoting a localized tumor i e lump on the gingiva
epulis
retrognathism
crossbite
overbite
overbite medically refers to the extent of vertical superior inferior overlap of the maxillary central incisors over the mandibular central incisors measured relative to the incisal ridges the term overbite does not refer to a specific condition nor is it a form of malocclusion rather an absent or excess overbite would be a malocclusion normal overbite is between 3 – 5 mm or approximately 20 – 30 of the height of the mandibular incisors and is commonly expressed as a percentage
malocclusion
a malocclusion is a misalignment or incorrect relation between the teeth of the two dental arches when they approach each other as the jaws close the term was coined by edward angle the father of modern orthodontics as a derivative of occlusion which refers to the manner in which opposing teeth meet mal occlusion incorrect occlusion
temporomandibular joint dysfunction
temporomandibular joint dysfunction tmd tmjd is an umbrella term covering pain and dysfunction of the muscles of mastication the muscles that move the jaw and the temporomandibular joints the joints which connect the mandible to the skull the most important feature is pain followed by restricted mandibular movement and noises from the temporomandibular joints tmj during jaw movement although tmd is not life threatening it can be detrimental to quality of life because the symptoms can become chronic and difficult to manage
temporomandibular joint dysfunction tmd tmjd is an umbrella term covering pain and dysfunction of the muscles of mastication the muscles that move the jaw and the temporomandibular joints the joints which connect the mandible to the skull the most important feature is pain followed by restricted mandibular movement and noises from the temporomandibular joints tmj during jaw movement although tmd is not life threatening it can be detrimental to quality of life because the symptoms can become chronic and difficult to manage tmd is a symptom complex rather than a single condition and it is thought to be caused by multiple factors however these factors are poorly understood and there is disagreement as to their relative importance there are many treatments available although there is a general lack of evidence for any treatment in tmd and no widely accepted treatment protocol common treatments include provision of occlusal splints psychosocial interventions like cognitive behavioral therapy and pain medication or others most sources agree that no irreversible treatment should be carried out for tmd about 20 to 30 of the adult population are affected to some degree usually people affected by tmd are between 20 and 40 years of age and it is more common in females than males tmd is the second most frequent cause of orofacial pain after dental pain i e toothache
toothache
toothache also known as dental pain is pain in the teeth and or their supporting structures caused by dental diseases or pain referred to the teeth by non dental diseases common causes include inflammation of the pulp usually in response to tooth decay dental trauma or other factors dentin hypersensitivity short sharp pain usually associated with exposed root surfaces apical periodontitis inflammation of the periodontal ligament and alveolar bone around the root apex dental abscesses localized collections of pus such as apical abscess pericoronal abscess and periodontal abscess alveolar osteitis dry socket a possible complication of tooth extraction with loss of the blood clot and exposure of bone acute necrotizing ulcerative gingivitis a gum infection also c
torus mandibularis
torus mandibularis pl tori mandibulares or mandibular torus pl mandibular tori in english is a bony growth in the mandible along the surface nearest to the tongue mandibular tori are usually present near the premolars and above the location of the mylohyoid muscle s attachment to the mandible in 90 of cases there is a torus on both the left and right sides making this finding an overwhelmingly bilateral condition
torus palatinus
torus palatinus pl tori palatinus palatinus torus pl palatal tori in english is a bony protrusion on the palate palatal tori are usually present on the midline of the hard palate most palatal tori are less than 2 cm in diameter but their size can change throughout life palatal tori are usually a clinical finding with no treatment necessary it is possible for ulcers to form on the area of the tori due to repeated trauma also the tori may complicate the fabrication of dentures if removal of the tori is needed surgery can be done to reduce the amount of bone present
alveolar osteitis
alveolar osteitis is inflammation of the alveolar bone i e the alveolar process of the maxilla or mandible classically this occurs as a postoperative complication of tooth extraction alveolar osteitis usually occurs where the blood clot fails to form or is lost from the socket i e the defect left in the gum when a tooth is taken out this leaves an empty socket where bone is exposed to the oral cavity causing a localized alveolar osteitis limited to the lamina dura i e the bone which lines the socket this specific type of alveolar osteitis is also known as dry socket or less commonly fibrinolytic alveolitis and is associated with increased pain and delayed healing time
alveolar osteitis is inflammation of the alveolar bone i e the alveolar process of the maxilla or mandible classically this occurs as a postoperative complication of tooth extraction alveolar osteitis usually occurs where the blood clot fails to form or is lost from the socket i e the defect left in the gum when a tooth is taken out this leaves an empty socket where bone is exposed to the oral cavity causing a localized alveolar osteitis limited to the lamina dura i e the bone which lines the socket this specific type of alveolar osteitis is also known as dry socket or less commonly fibrinolytic alveolitis and is associated with increased pain and delayed healing time dry socket occurs in about 0 5 – 5 of routine dental extractions and in about 25 – 30 of extractions of impacted mandibular third molars wisdom teeth which are buried in the bone
cherubism
cherubism is a rare genetic disorder that causes prominence in the lower portion in the face the name is derived from the temporary chubby cheeked resemblance to putti often confused with cherubs in renaissance paintings
fibrous dysplasia of bone
fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue resulting in formation of bone that is weak and prone to expansion as a result most complications result from fracture deformity functional impairment and pain disease occurs along a broad clinical spectrum ranging from asymptomatic incidental lesions to severe disabling disease disease can affect one bone monostotic or multiple polyostotic and may occur in isolation or in combination with cafe au lait skin macules and hyperfunctioning endocrinopathies termed mccune albright syndrome more rarely fibrous dysplasia may be associated with intramuscular myxomas termed mazabraud s syndrome fibrous dysplasia is very rare and there is no known cure fibrous dysplasia is not a form of c
sialolithiasis
sialolithiasis also termed salivary calculi or salivary stones is a condition where a calcified mass or sialolith forms within a salivary gland usually in the duct of the submandibular gland also termed wharton s duct less commonly the parotid gland or rarely the sublingual gland or a minor salivary gland may develop salivary stones
oral mucocele
oral mucocele also termed mucous retention cyst mucous extravasation cyst mucous cyst of the oral mucosa and mucous retention and extravasation phenomena is a clinical term that refers to two related phenomena mucus extravasation phenomenon mucus retention cyst although the term cyst is often used to refer to these lesions mucoceles are not strictly speaking true cysts because there is no epithelial lining rather it would be more accurate to classify mucoceles as polyps i e a lump
oral mucocele also termed mucous retention cyst mucous extravasation cyst mucous cyst of the oral mucosa and mucous retention and extravasation phenomena is a clinical term that refers to two related phenomena mucus extravasation phenomenon mucus retention cyst the former is a swelling of connective tissue consisting of a collection of fluid called mucin this occurs because of a ruptured salivary gland duct usually caused by local trauma damage in the case of mucus extravasation phenomenon and an obstructed or ruptured salivary duct parotid duct in the case of a mucus retention cyst the mucocele has a bluish translucent color and is more commonly found in children and young adults although the term cyst is often used to refer to these lesions mucoceles are not strictly speaking true cysts because there is no epithelial lining rather it would be more accurate to classify mucoceles as polyps i e a lump
ranula
a ranula is a type of mucocele found on the floor of the mouth ranulas present as a swelling of connective tissue consisting of collected mucin from a ruptured salivary gland caused by local trauma if small and asymptomatic further treatment may not be needed otherwise minor oral surgery may be indicated
xerostomia
xerostomia also termed dry mouth as a symptom or dry mouth syndrome as a syndrome is dryness in the mouth xero stom ia which may be associated with a change in the composition of saliva or reduced salivary flow hyposalivation or have no identifiable cause
benign lymphoepithelial lesion
benign lymphoepithelial lesion is a type of benign enlargement of the parotid and or lacrimal glands this pathologic state is sometimes but not always associated with sjögren s syndrome
stomatitis
stomatitis is inflammation of the mouth and lips it refers to any inflammatory process affecting the mucous membranes of the mouth and lips with or without oral ulceration in its widest meaning stomatitis can have a multitude of different causes and appearances common causes include infections nutritional deficiencies allergic reactions radiotherapy and many others when inflammation of the gums and the mouth generally presents itself sometimes the term gingivostomatitis is used though this is also sometimes used as a synonym for herpetic gingivostomatitis
aphthous stomatitis
aphthous stomatitis is a common condition characterized by the repeated formation of benign and non contagious mouth ulcers aphthae in otherwise healthy individuals the informal term canker sores is also used mainly in north america although this may also refer to any mouth ulcer the cause is not completely understood but involves a t cell mediated immune response triggered by a variety of factors different individuals have different triggers which may include nutritional deficiencies local trauma stress hormonal influences allergies genetic predisposition or other factors
aphthous stomatitis is a common condition characterized by the repeated formation of benign and non contagious mouth ulcers aphthae in otherwise healthy individuals the informal term canker sores is also used mainly in north america although this may also refer to any mouth ulcer the cause is not completely understood but involves a t cell mediated immune response triggered by a variety of factors different individuals have different triggers which may include nutritional deficiencies local trauma stress hormonal influences allergies genetic predisposition or other factors these ulcers occur periodically and heal completely between attacks in the majority of cases the individual ulcers last about 7 – 10 days and ulceration episodes occur 3 – 6 times per year most appear on the non keratinizing epithelial surfaces in the mouth i e anywhere except the attached gingiva the hard palate and the dorsum of the tongue although the more severe forms which are less common may also involve keratinizing epithelial surfaces symptoms range from a minor nuisance to interfering with eating and drinking the severe forms may be debilitating even causing weight loss due to malnutrition the condition is very common affecting about 20 of the general population to some degree the onset is often during childhood or adolescence and the condition usually lasts for several years before gradually disappearing there is no cure and treatments aim to manage pain reduce healing time and reduce the frequency of episodes of ulceration the term is from from greek αφθα aphtha meaning mouth ulcer
angular cheilitis
angular cheilitis ac is inflammation of one or both corners of the mouth often the corners are red with skin breakdown and crusting it can also be itchy or painful the condition can last for days to years angular cheilitis is a type of cheilitis inflammation of the lips
cheilitis
morsicatio buccarum
morsicatio buccarum also termed chronic cheek biting and chronic cheek chewing is a condition characterized by chronic irritation or injury to the buccal mucosa the lining of the inside of the cheek within the mouth caused by repetitive chewing biting or nibbling
leukoplakia
leukoplakia also termed leucoplakia leukokeratosis leukoplasia idiopathic leukoplakia idiopathic keratosis or idiopathic white patch normally refers to a condition where areas of keratosis appear as firmly attached white patches on the mucous membranes of the oral cavity although the term is sometimes used for white patches of other gastrointestinal tract mucosal sites or mucosal surfaces of the urinary tract and genitals
leukoplakia also termed leucoplakia leukokeratosis leukoplasia idiopathic leukoplakia idiopathic keratosis or idiopathic white patch normally refers to a condition where areas of keratosis appear as firmly attached white patches on the mucous membranes of the oral cavity although the term is sometimes used for white patches of other gastrointestinal tract mucosal sites or mucosal surfaces of the urinary tract and genitals leukoplakia in the mouth oral leukoplakia is defined as a predominantly white lesion of the oral mucosa that cannot be characterized as any other definable lesion however this definition is inconsistently applied and some refer to any oral white patch as leukoplakia leukoplakia is a descriptive clinical term that is only correctly used once all other possible causes have been ruled out a diagnosis of exclusion as such leukoplakia is not a specific disease entity and the clinical and histologic appearance are variable i e the term has no specific histologic implications leukoplakia may be confused with other common causes of white patches in the mouth such as oral candidiasis or lichen planus the lesions of leukoplakia cannot be rubbed off as would be the case in pseudomembraneous candidiasis oral thrush oral leukoplakia more commonly occurs in those who smoke but often the cause is unknown hence the name idiopathic leukoplakia chewing tobacco is also associated with this type of lesion leukoplakia is a premalignant lesion i e a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart the chance of transformation into oral squamous cell carcinoma oscc a type of oral cancer varies from almost 0 to about 20 and this may occur over 1 – 30 years the vast majority of oral leukoplakias will not turn malignant however some subtypes hold greater risk than others no interventions have been proven to reduce the risk of cancer developing in an area of leukoplakia but people are generally advised to stop smoking and limit alcohol consumption to reduce their risk sometimes the white patch will shrink and eventually disappear after stopping smoking but this may take up to a year in many cases areas of leukoplakia will slowly expand become more white and thicken if smoking is not stopped management usually involves regular review of the lesion to detect any possible malignant change early and thereby significantly improve the prognosis which normally is relatively poor for oscc
hairy leukoplakia
hairy leukoplakia also known as oral hairy leukoplakia ohl or hiv associated hairy leukoplakia is a white patch on the side of the tongue with a corrugated or hairy appearance it is caused by epstein barr virus ebv and occurs usually in persons who are immunocompromised especially those with human immunodeficiency virus infection acquired immunodeficiency syndrome hiv aids this white lesion cannot be scraped off the lesion itself is benign and does not require any treatment although its appearance may have diagnostic and prognostic implications for the underlying condition
hairy leukoplakia also known as oral hairy leukoplakia ohl or hiv associated hairy leukoplakia is a white patch on the side of the tongue with a corrugated or hairy appearance it is caused by epstein barr virus ebv and occurs usually in persons who are immunocompromised especially those with human immunodeficiency virus infection acquired immunodeficiency syndrome hiv aids this white lesion cannot be scraped off the lesion itself is benign and does not require any treatment although its appearance may have diagnostic and prognostic implications for the underlying condition depending upon what definition of leukoplakia is used hairy leukoplakia is sometimes considered a subtype of leukoplakia or a distinct diagnosis
glossitis
glossitis can mean soreness of the tongue or more usually inflammation with depapillation of the dorsal surface of the tongue loss of the lingual papillae leaving a smooth and erythematous reddened surface sometimes specifically termed atrophic glossitis in a wider sense glossitis can mean inflammation of the tongue generally glossitis is often caused by nutritional deficiencies and may be painless or cause discomfort glossitis usually responds well to treatment if the cause is identified and corrected tongue soreness caused by glossitis is differentiated from burning mouth syndrome where there is no identifiable change in the appearance of the tongue and there are no identifiable causes
geographic tongue
geographic tongue also known by several other terms is an inflammatory condition of the mucous membrane of the tongue usually on the dorsal surface it is a common condition affecting approximately 2 – 3 of the general population it is characterized by areas of smooth red depapillation loss of lingual papillae which migrate over time the name comes from the map like appearance of the tongue with the patches resembling the islands of an archipelago the cause is unknown but the condition is entirely benign importantly it does not represent oral cancer and there is no curative treatment uncommonly geographic tongue may cause a burning sensation on the tongue for which various treatments have been described with little formal evidence of efficacy
black hairy tongue
fissured tongue
burning mouth syndrome
burning mouth syndrome bms is the complaint of a burning sensation in the mouth where no underlying dental or medical cause can be identified and no signs found in the mouth burning mouth syndrome may also comprise subjective xerostomia a dry mouth sensation where no cause can be found such as reduced salivary flow oral paraesthesia e g tingling and altered taste or smell dysgeusia and dysosmia
esophagitis
esophagitis or oesophagitis is inflammation of the esophagus it may be acute or chronic acute esophagitis can be catarrhal or phlegmonous whereas chronic esophagitis may be hypertrophic or atrophic
gastroesophageal reflux disease
gastroesophageal reflux disease gerd also known as acid reflux is a long term condition where stomach contents come back up into the esophagus resulting in either symptoms or complications symptoms include the taste of acid in the back of the mouth heartburn bad breath chest pain vomiting breathing problems and wearing away of the teeth complications include esophagitis esophageal strictures and barrett s esophagus
achalasia
achalasia eɪkəˈleɪʒə a chalasia no relaxation is a failure of smooth muscle fibers to relax which can cause a sphincter to remain closed and fail to open when needed without a modifier achalasia usually refers to achalasia of the esophagus which is also called esophageal achalasia achalasia cardiae cardiospasm and esophageal aperistalsis achalasia can happen at various points along the gastrointestinal tract achalasia of the rectum for instance in hirschsprung s disease
boerhaave syndrome
esophageal rupture is a rupture of the esophageal wall iatrogenic causes account for approximately 56 of esophageal perforations usually due to medical instrumentation such as an endoscopy or paraesophageal surgery in contrast the term boerhaave s syndrome is reserved for the 10 of esophageal perforations which occur due to vomiting
esophageal rupture is a rupture of the esophageal wall iatrogenic causes account for approximately 56 of esophageal perforations usually due to medical instrumentation such as an endoscopy or paraesophageal surgery in contrast the term boerhaave s syndrome is reserved for the 10 of esophageal perforations which occur due to vomiting spontaneous perforation of the esophagus most commonly results from a full thickness tear in the esophageal wall due to a sudden increase in intraesophageal pressure combined with relatively negative intrathoracic pressure caused by straining or vomiting effort rupture of the esophagus or boerhaave s syndrome other causes of spontaneous perforation include caustic ingestion pill esophagitis barrett s esophagus infectious ulcers in patients with aids and following dilation of esophageal strictures in most cases of boerhaave s syndrome the tear occurs at the left postero lateral aspect of the distal esophagus and extends for several centimeters the condition is associated with high morbidity and mortality and is fatal without treatment the occasionally nonspecific nature of the symptoms may contribute to a delay in diagnosis and a poor outcome spontaneous effort rupture of the cervical esophagus leading to localized cervical perforation may be more common than previously recognized and has a generally benign course preexisting esophageal disease is not a prerequisite for esophageal perforation but it contributes to increased mortality this condition was first documented by the 18 th century physician herman boerhaave after whom it is named a related condition is mallory weiss syndrome which is only a mucosal tear in case of iatrogenic perforation common site is cervical esophagus just above the upper sphincter where as spontaneous rupture as seen in boerhaave s syndrome perforation commonly occurs in the lower 1 3 rd of esophagus
diffuse esophageal spasm
diffuse esophageal spasm des is a condition characterized by uncoordinated contractions of the esophagus which may cause difficulty swallowing dysphagia or regurgitation in some cases it may causes symptoms such as chest pain similar to heart disease the cause of des remains unknown
nutcracker esophagus
nutcracker esophagus or hypertensive peristalsis is a disorder of the movement of the esophagus characterized by contractions in the smooth muscle of the esophagus in a normal sequence but at an excessive amplitude or duration nutcracker esophagus is one of several motility disorders of the esophagus including achalasia and diffuse esophageal spasm it causes difficulty swallowing or dysphagia to both solid and liquid foods and can cause significant chest pain it may also be asymptomatic nutcracker esophagus can affect people of any age but is more common in the sixth and seventh decades of life the diagnosis is made by an esophageal motility study esophageal manometry which evaluates the pressure of the esophagus at various points along its length the term nutcracker esoph
zenker s diverticulum
a zenker s diverticulum also pharyngoesophageal diverticulum also pharyngeal pouch also hypopharyngeal diverticulum is a diverticulum of the mucosa of the pharynx just above the cricopharyngeal muscle i e above the upper sphincter of the esophagus it is a pseudo diverticulum not involving all layers of the esophageal wall it was named in 1877 by german pathologist friedrich albert von zenker
mallory – weiss syndrome
mallory – weiss syndrome or gastro esophageal laceration syndrome refers to bleeding from a laceration in the mucosa at the junction of the stomach and esophagus this is usually caused by severe vomiting because of alcoholism or bulimia but can be caused by any conditions which causes violent vomiting and retching such as food poisoning the syndrome presents with painful hematemesis the laceration is sometimes referred to as a mallory weiss tear
barrett s esophagus
barrett s esophagus british english barrett s oesophagus sometimes called barrett syndrome barrett esophagus or columnar epithelium lined lower oesophagus cello refers to an abnormal change metaplasia in the cells of the lower portion of the esophagus it is characterized by the replacement of the normal stratified squamous epithelium lining of the esophagus by simple columnar epithelium with goblet cells which are usually found lower in the gastrointestinal tract the medical significance of barrett s esophagus is its strong association about 0 5 per patient year with esophageal adenocarcinoma a very often deadly cancer because of which it is considered to be a premalignant condition
barrett s esophagus british english barrett s oesophagus sometimes called barrett syndrome barrett esophagus or columnar epithelium lined lower oesophagus cello refers to an abnormal change metaplasia in the cells of the lower portion of the esophagus it is characterized by the replacement of the normal stratified squamous epithelium lining of the esophagus by simple columnar epithelium with goblet cells which are usually found lower in the gastrointestinal tract the medical significance of barrett s esophagus is its strong association about 0 5 per patient year with esophageal adenocarcinoma a very often deadly cancer because of which it is considered to be a premalignant condition the main cause of barrett s esophagus is thought to be an adaptation to chronic acid exposure from reflux esophagitis the incidence of esophageal adenocarcinoma has increased substantially in the western world in recent years the condition is found in 5 – 15 of patients who seek medical care for heartburn gastroesophageal reflux disease although a large subgroup of patients with barrett s esophagus do not have symptoms diagnosis requires endoscopy more specifically esophagogastroduodenoscopy a procedure in which a fibreoptic cable is inserted through the mouth to examine the esophagus stomach and duodenum and biopsy the cells of barrett s esophagus after biopsy are classified into four general categories nondysplastic low grade dysplasia high grade dysplasia and frank carcinoma high grade dysplasia and early stages of adenocarcinoma can be treated by endoscopic resection and new endoscopic therapies such as radiofrequency ablation whereas advanced stages submucosal are generally advised to undergo surgical treatment nondysplastic and low grade patients are generally advised to undergo annual observation with endoscopy with radiofrequency ablation as a therapeutic option in high grade dysplasia the risk of developing cancer might be at 10 per patient year or greater the condition is named after the australian born british thoracic surgeon norman barrett 1903 – 1979 who described it in 1950
dieulafoy s lesion
dieulafoy s lesion exulceratio simplex dieulafoy is a medical condition characterized by a large tortuous arteriole most commonly in the stomach wall submucosal that erodes and bleeds it can present in any part of the gastrointestinal tract it can cause gastric hemorrhage but is relatively uncommon it is thought to cause less than 5 of all gastrointestinal bleeds in adults it was named after french surgeon paul georges dieulafoy who described this condition in his paper exulceratio simplex leçons 1 3 in 1898 it is also called caliber persistent artery or aneurysm of gastric vessels however unlike most other aneurysms these are thought to be developmental malformations rather than degenerative changes
peptic ulcer
peptic ulcer disease pud also known as a peptic ulcer or stomach ulcer is a break in the lining of the stomach first part of the small intestine or occasionally the lower esophagus an ulcer in the stomach is known as a gastric ulcer while that in the first part of the intestines is known as a duodenal ulcer the most common symptoms are waking at night with upper abdominal pain or upper abdominal pain that improves with eating the pain is often described as a burning or dull ache other symptoms include belching vomiting weight loss or poor appetite about a third of older people have no symptoms complications may include bleeding perforation and blockage of the stomach bleeding occurs in as many as 15 of people
gastritis
gastritis is inflammation of the lining of the stomach it may occur as a short episode or may be of a long duration the most common symptom is upper abdominal pain other symptoms include nausea and vomiting bloating loss of appetite and heartburn others may have no symptoms complications may include bleeding stomach ulcers and stomach tumors when due to autoimmune problems low red blood cells due to not enough vitamin b 12 may occur a condition known as pernicious anemia
ménétrier s disease
duodenitis
duodenitis is inflammation of the duodenum it may persist acutely or chronically
stomach disease
the stomach is an important organ in the body it plays a vital role in digestion of foods releases various enzymes and also protects the lower intestine from harmful organisms the stomach connects to the esophagus above and to the small intestine below it is intricately related to the pancreas spleen and liver the stomach does vary in size but its j shape is constant the stomach lies in the upper part of the abdomen just below the left rib cage gastritis and stomach cancer can be caused by helicobacter pylori infection
pyloric stenosis
pyloric stenosis or pylorostenosis is narrowing stenosis of the opening from the stomach to the first part of the small intestine known as the duodenum due to enlargement hypertrophy of the muscle surrounding this opening the pylorus meaning gate which spasms when the stomach empties this condition causes severe projectile non bilious vomiting it most often occurs in the first few months of life when it may thus be more specifically labeled as infantile hypertrophic pyloric stenosis the thickened pylorus is felt classically as an olive shaped mass in the middle upper part or right upper quadrant of the infant s abdomen in pyloric stenosis it is uncertain whether there is a true congenital anatomic narrowing or whether there is merely a functional hypertrophy of the pyloric
ileus
ileus is a disruption of the normal propulsive ability of the gastrointestinal tract although ileus originally referred to any lack of digestive propulsion including bowel obstruction up to date medical usage restricts its meaning to those disruptions caused by the failure of peristalsis rather than by mechanical obstruction although certain older terms such as gallstone ileus and meconium ileus persist in usage they are now misnomers which does not mean that they are incorrect or obsolete but rather that they are known to not sound like what they really are
gastric antral vascular ectasia
gastric antral vascular ectasia gave is an uncommon cause of chronic gastrointestinal bleeding or iron deficiency anemia the condition is associated with dilated small blood vessels in the antrum or the last part of the stomach the dilated vessels result in intestinal bleeding it is also called watermelon stomach because streaky long red areas that are present in the stomach may resemble the markings on watermelon
gastric antral vascular ectasia gave is an uncommon cause of chronic gastrointestinal bleeding or iron deficiency anemia the condition is associated with dilated small blood vessels in the antrum or the last part of the stomach the dilated vessels result in intestinal bleeding it is also called watermelon stomach because streaky long red areas that are present in the stomach may resemble the markings on watermelon the condition was first discovered in 1952 and reported in the literature in 1953 watermelon disease was first diagnosed by wheeler et al in 1979 and definitively described in four living patients by jabbari et al only in 1984 as of 2011 the cause and pathogenesis are still not known however there are several competing hypotheses as to various causes
achlorhydria
gastroparesis
gastroparesis gp gastro from ancient greek γαστήρ gaster stomach and πάρεσις paresis partial paralysis also called delayed gastric emptying is a medical condition consisting of a paresis partial paralysis of the stomach resulting in food remaining in the stomach for an abnormally long time normally the stomach contracts to move food down into the small intestine for additional digestion the vagus nerve controls these contractions gastroparesis may occur when the vagus nerve is damaged and the muscles of the stomach and intestines do not properly function food then moves slowly or stops moving through the digestive tract
gastric volvulus
gastric volvulus or volvulus of stomach is a twisting of all or part of the stomach by more than 180 degrees with obstruction of the flow of material through the stomach variable loss of blood supply and possible tissue death the twisting can occur around the long axis of the stomach this is called organoaxial or around the axis perpendicular to this called mesenteroaxial obstruction is more likely in organoaxial twisting than with mesenteroaxial while the latter is more associated with ischemia about one third of the cases are associated with a hiatus hernia treatment is surgical
appendicitis
appendicitis is inflammation of the appendix appendicitis commonly presents with right lower abdominal pain nausea vomiting and decreased appetite however approximately 40 of people do not have these typical signs and symptoms severe complications of a ruptured appendix include widespread painful inflammation of the inner lining of the abdominal wall and sepsis
fecolith
intussusception medical disorder
inguinal hernia
an inguinal hernia is a protrusion of abdominal cavity contents through the inguinal canal symptoms are present in about 66 of affected people this may include pain or discomfort especially with coughing exercise or bowel movements often it gets worse throughout the day and improves when lying down a bulging area may occur that becomes larger when bearing down inguinal hernias occur more often on the right than left side the main concern is strangulation where the blood supply to part of the intestine is blocked this usually produces severe pain and tenderness of the area
an inguinal hernia is a protrusion of abdominal cavity contents through the inguinal canal symptoms are present in about 66 of affected people this may include pain or discomfort especially with coughing exercise or bowel movements often it gets worse throughout the day and improves when lying down a bulging area may occur that becomes larger when bearing down inguinal hernias occur more often on the right than left side the main concern is strangulation where the blood supply to part of the intestine is blocked this usually produces severe pain and tenderness of the area risk factors for the development of a hernia include smoking chronic obstructive pulmonary disease obesity pregnancy peritoneal dialysis collagen vascular disease and previous open appendectomy among others hernias are partly genetic and occur more often in certain families it is unclear if inguinal hernias are associated with heavy lifting hernias can often be diagnosed based on signs and symptoms occasionally medical imaging is used to confirm the diagnosis or rule out other possible causes groin hernias that do not cause symptoms in males do not need to be repaired repair however is generally recommended in females due to the higher rate of femoral hernias which have more complications if strangulation occurs immediate surgery is required repair may be done by open surgery or by laparoscopic surgery open surgery has the benefit of possibly being done under local anesthesia rather than general anesthesia laparoscopic surgery generally has less pain following the procedure about 27 of males and 3 of females develop a groin hernia at some time in their life groin hernias occur most often before the age of one and after the age of fifty inguinal femoral and abdominal hernias resulted in 51 000 deaths in 2013 and 55 000 in 1990
hernia
a hernia is the exit of an organ such as the bowel through the wall of the cavity in which it normally resides hernias come in a number of different types most commonly they involve the abdomen specifically the groin groin hernias are most common of the inguinal type but may also be femoral other hernias include hiatus incisional and umbilical hernias for groin hernias symptoms are present in about 66 of people this may include pain or discomfort especially with coughing exercise or going to the toilet often it gets worse throughout the day and improves when lying down a bulging area may occur that becomes larger when bearing down groin hernias occur more often on the right than left side the main concern is strangulation where the blood supply to part of the bowel is bl
spigelian hernia
a spigelian hernia or lateral ventral hernia is a hernia through the spigelian fascia which is the aponeurotic layer between the rectus abdominis muscle medially and the semilunar line laterally these are generally interparietal hernias meaning that they do not lie below the subcutaneous fat but penetrate between the muscles of the abdominal wall therefore there is often no notable swelling spigelian hernias are usually small and therefore risk of strangulation is high most occur on the right side 4 th – 7 th decade of life compared to other types of hernias they are rare
hiatus hernia
a hiatus hernia or hiatal hernia is the protrusion or herniation of the upper part of the stomach into the chest cavity through the esophageal hiatus because of a tear or weakness in the diaphragm the most common cause is obesity the diagnosis is often by endoscopy or medical imaging
crohn s disease
crohn s disease is a type of inflammatory bowel disease ibd that may affect any part of the gastrointestinal tract from mouth to anus signs and symptoms often include abdominal pain diarrhea which may be bloody if inflammation is severe fever and weight loss other complications may occur outside the gastrointestinal tract and include anemia skin rashes arthritis inflammation of the eye and feeling tired the skin rashes may be due to infections as well as pyoderma gangrenosum or erythema nodosum bowel obstruction also commonly occurs and those with the disease are at greater risk of bowel cancer
crohn s disease is a type of inflammatory bowel disease ibd that may affect any part of the gastrointestinal tract from mouth to anus signs and symptoms often include abdominal pain diarrhea which may be bloody if inflammation is severe fever and weight loss other complications may occur outside the gastrointestinal tract and include anemia skin rashes arthritis inflammation of the eye and feeling tired the skin rashes may be due to infections as well as pyoderma gangrenosum or erythema nodosum bowel obstruction also commonly occurs and those with the disease are at greater risk of bowel cancer crohn s disease is caused by a combination of environmental immune and bacterial factors in genetically susceptible individuals it results in a chronic inflammatory disorder in which the body s immune system attacks the gastrointestinal tract possibly directed at microbial antigens while crohn s is an immune related disease it does not appear to be an autoimmune disease in that the immune system is not being triggered by the body itself the exact underlying immune problem is not clear however it may be an immunodeficiency state about half of the overall risk is related to genetics with more than 70 genes found to be involved tobacco smokers are two times more likely to develop crohn s disease than nonsmokers it also often begins after gastroenteritis diagnosis is based on a number of findings including biopsy and appearance of the bowel wall medical imaging and description of the disease other conditions that can present similarly include irritable bowel syndrome and behçet s disease there are no medications or surgical procedures that can cure crohn s disease treatment options help with symptoms maintain remission and prevent relapse in those newly diagnosed a corticosteroid may be used for a brief period of time to quickly improve the disease with another medication such as either methotrexate or a thiopurine used to prevent recurrence an important part of treatment is the stopping of smoking among those who do one in five people with the disease are admitted to hospital each year and half of those with the disease will require surgery for the disease at some point over a ten year period while surgery should be used as little as possible it is necessary to address some abscesses certain bowel obstructions and cancers checking for bowel cancer via colonoscopy is recommended every few years starting eight years after the disease has begun crohn s disease affects about 3 2 per 1 000 people in europe and north america it is less common in asia and africa it has historically been more common in the developed world rates have however been increasing particularly in the developing world since the 1970 s inflammatory bowel disease resulted in 35 000 deaths in 2010 and those with crohn s disease have a slightly reduced life expectancy it tends to start in the teens and twenties although it can occur at any age males and females are equally affected the disease was named after gastroenterologist burrill bernard crohn who in 1932 together with two other colleagues at mount sinai hospital in new york described a series of patients with inflammation of the terminal ileum of the small intestine the area most commonly affected by the illness
colitis
ulcerative colitis
ulcerative colitis uc is a long term condition that results in inflammation and ulcers of the colon and rectum the primary symptom of active disease is abdominal pain and diarrhea mixed with blood weight loss fever and anemia may also occur often symptoms come on slowly and can range from mild to severe symptoms typically occur intermittently with periods of no symptoms between flares complications may include megacolon inflammation of the eye joints or liver and colon cancer
mesenteric ischemia
mesenteric ischemia is a medical condition in which injury of the small intestine occurs due to not enough blood supply it can come on suddenly known as acute mesenteric ischemia or gradually known as chronic mesenteric ischemia acute disease often presents with sudden severe pain symptoms may come on more slowly in those with acute on chronic disease signs and symptoms of chronic disease include abdominal pain after eating unintentional weight loss vomiting and being afraid of eating
mesenteric ischemia is a medical condition in which injury of the small intestine occurs due to not enough blood supply it can come on suddenly known as acute mesenteric ischemia or gradually known as chronic mesenteric ischemia acute disease often presents with sudden severe pain symptoms may come on more slowly in those with acute on chronic disease signs and symptoms of chronic disease include abdominal pain after eating unintentional weight loss vomiting and being afraid of eating risk factors include atrial fibrillation heart failure chronic renal failure being prone to forming blood clots and previous myocardial infarction there are four mechanisms by which poor blood flow occurs a blood clot from elsewhere getting lodged in an artery a new blood clot forming in an artery a blood clot forming in the mesenteric vein and insufficient blood flow due to low blood pressure or spasms of arteries chronic disease is a risk factor for acute disease the best method of diagnosis is angiography with computer tomography ct being used when that is not available treatment of acute ischemia may include stenting or medications to break down the clot provided at the site of obstruction by interventional radiology open surgery may also be used to remove or bypass the obstruction and may be required to remove any intestines that may have died if not rapidly treated outcomes are often poor among those affected even with treatment the risk of death is 70 to 90 in those with chronic disease bypass surgery is the treatment of choice those who have thrombosis of the vein may be treated with anticoagulation such as heparin and warfarin with surgery used if they do not improve acute mesenteric ischemia affects about five per hundred thousand people per year in the developed world chronic mesenteric ischemia affects about one per hundred thousand people most people affected are over 60 years old rates are about equal in males and females of the same age mesenteric ischemia was first described in 1895
ischemic colitis
ischemic colitis also spelled ischaemic colitis is a medical condition in which inflammation and injury of the large intestine result from inadequate blood supply although uncommon in the general population ischemic colitis occurs with greater frequency in the elderly and is the most common form of bowel ischemia causes of the reduced blood flow can include changes in the systemic circulation e g low blood pressure or local factors such as constriction of blood vessels or a blood clot in most cases no specific cause can be identified
ischemic colitis also spelled ischaemic colitis is a medical condition in which inflammation and injury of the large intestine result from inadequate blood supply although uncommon in the general population ischemic colitis occurs with greater frequency in the elderly and is the most common form of bowel ischemia causes of the reduced blood flow can include changes in the systemic circulation e g low blood pressure or local factors such as constriction of blood vessels or a blood clot in most cases no specific cause can be identified ischemic colitis is usually suspected on the basis of the clinical setting physical examination and laboratory test results the diagnosis can be confirmed via endoscopy or by using sigmoid or endoscopic placement of a visible light spectroscopic catheter see ischemic colitis can span a wide spectrum of severity most patients are treated supportively and recover fully while a minority with very severe ischemia may develop sepsis and become critically sometimes fatally ill patients with mild to moderate ischemic colitis are usually treated with iv fluids analgesia and bowel rest that is no food or water by mouth until the symptoms resolve those with severe ischemia who develop complications such as sepsis intestinal gangrene or bowel perforation may require more aggressive interventions such as surgery and intensive care most patients make a full recovery occasionally after severe ischemia patients may develop long term complications such as a stricture or chronic colitis
volvulus
a volvulus is when a loop of intestine twists around itself and the mesentery that supports it resulting in a bowel obstruction symptoms include abdominal pain abdominal bloating vomiting constipation and bloody stool onset of symptoms may be rapid or more gradual the mesentery may become so tightly twisted that blood flow to part of the intestine is cut off resulting in ischemic bowel in this situation there may be fever or significant pain when the abdomen is touched
adhesion medicine
adhesions are fibrous bands that form between tissues and organs often as a result of injury during surgery they may be thought of as internal scar tissue that connects tissues not normally connected
ogilvie syndrome
ogilvie syndrome is the acute dilation of the colon in the absence of any mechanical obstruction in severely ill patients colonic pseudo obstruction is characterized by massive dilatation of the cecum diameter 10 cm and right colon on abdominal x ray it is a type of megacolon sometimes referred to as acute megacolon to distinguish it from toxic megacolon the condition carries the name of the british surgeon sir william heneage ogilvie 1887 – 1971 who first reported it in 1948
diverticulitis
diverticulitis is a digestive disease in which pouches within the large bowel wall become inflamed symptoms typically include lower abdominal pain of a sudden onset onset however may also occur over a few days in north america and europe pain is usually on the left side while in asia it is often on the right there may also be fever nausea diarrhoea or constipation or blood in the stool repeated attacks may occur
diverticulosis
diverticulosis is the condition of having diverticula in the colon that are not inflamed these are outpockets of the colonic mucosa and submucosa through weaknesses of muscle layers in the colon wall they typically cause no symptoms diverticular disease occurs when diverticula become inflamed known as diverticulitis or bleed
diverticulosis is the condition of having diverticula in the colon that are not inflamed these are outpockets of the colonic mucosa and submucosa through weaknesses of muscle layers in the colon wall they typically cause no symptoms diverticular disease occurs when diverticula become inflamed known as diverticulitis or bleed they typically occur in the sigmoid colon which is a common place for increased pressure the left side is more commonly affected in the united states while the right side is more commonly affected in asia diagnosis is often during routine colonoscopy or as an incidental finding during ct scan it is common in western countries with about half of those over the age of 60 in canada and the united states affected this is uncommon before the age of 40 and increases in incidence after that age rates are lower in africa which has been attributed to a shorter life expectancy and poor healthcare access the lower rate has also been attributed to high fiber
irritable bowel syndrome
irritable bowel syndrome ibs is a group of symptoms — including abdominal pain and changes in the pattern of bowel movements without any evidence of underlying damage these symptoms occur over a long time often years it has been classified into four main types depending on if diarrhea is common constipation is common both are common or neither occurs very often ibs d ibs c ibs m or ibs u respectively ibs negatively affects quality of life and may result in missed school or work disorders such as anxiety major depression and chronic fatigue syndrome are common among people with ibs
toxic megacolon
toxic megacolon megacolon toxicum is an acute form of colonic distension it is characterized by a very dilated colon megacolon accompanied by abdominal distension bloating and sometimes fever abdominal pain or shock
megacolon
megacolon is an abnormal dilation of the colon also called the large intestine the dilation is often accompanied by a paralysis of the peristaltic movements of the bowel in more extreme cases the feces consolidate into hard masses inside the colon called fecalomas literally fecal tumor which can require surgery to be removed a megacolon can be either acute or chronic it can also be classified according to etiology
proctalgia fugax
proctalgia fugax a variant of levator ani syndrome is a severe episodic rectal and sacrococcygeal pain it can be caused by cramp of the levator ani muscle particularly in the pubococcygeus
anal fissure
an anal fissure or rectal fissure is a break or tear in the skin of the anal canal anal fissures may be noticed by bright red anal bleeding on toilet paper sometimes in the toilet if acute they may cause pain after defecation but with chronic fissures pain intensity is often less anal fissures usually extend from the anal opening and are usually located posteriorly in the midline probably because of the relatively unsupported nature and poor perfusion of the anal wall in that location fissure depth may be superficial or sometimes down to the underlying sphincter muscle
anal fistula
anal fistula plural fistulae or fistula in ano is a chronic abnormal communication between the epithelialised surface of the anal canal and usually the perianal skin an anal fistula can be described as a narrow tunnel with its internal opening in the anal canal and its external opening in the skin near the anus anal fistulae commonly occur in people with a history of anal abscesses they can form when anal abscesses do not heal properly abscesses can recur if the fistula seals over allowing the accumulation of pus it can then extends to the surface again repeating the process
anorectal abscess
rectal prolapse
used colloquially the term rectal prolapse often is used synonymously with complete rectal prolapse external rectal prolapse where the rectal walls have prolapsed to a degree where they protrude out the anus and are visible outside the body however most researchers agree that there are 3 to 5 different types of rectal prolapse depending on if the prolapsed section is visible externally and if the full or only partial thickness of the rectal wall is involved
gastrointestinal perforation
colorectal polyp
a colorectal polyp is a polyp fleshy growth occurring on the lining of the colon or rectum untreated colorectal polyps can develop into colorectal cancer colorectal polyps are often classified by their behaviour i e benign vs malignant and or etiology e g as a consequence of inflammatory bowel disease they may be benign e g hyperplastic polyp pre malignant e g tubular adenoma or malignant e g colorectal adenocarcinoma
polyp medicine
a polyp is an abnormal growth of tissue projecting from a mucous membrane if it is attached to the surface by a narrow elongated stalk it is said to be pedunculated if no stalk is present it is said to be sessile polyps are commonly found in the colon stomach nose ear sinus es urinary bladder and uterus they may also occur elsewhere in the body where mucous membranes exist like the cervix vocal folds and small intestine some polyps are tumors neoplasms and others are nonneoplastic for example hyperplastic or dysplastic the neoplastic ones are generally benign although some can be premalignant and or concurrent with a malignancy
cronkhite – canada syndrome
cronkhite – canada syndrome is a rare syndrome characterized by multiple polyps of the digestive tract it is sporadic i e it does not seem to be a hereditary disease and it is currently considered acquired and idiopathic i e cause remains unknown about two thirds of patients are of japanese descent and the male to female ratio is 2 1 it was characterized in 1955
pneumatosis intestinalis
pneumatosis intestinalis also called intestinal pneumatosis pneumatosis cystoides intestinalis or pneumatosis coli is pneumatosis of an intestine that is gas cysts in the bowel wall as a radiological sign it is highly suggestive for necrotizing enterocolitis this is in contrast to gas in the intestinal lumen which is relieved by flatulence in newborns pneumatosis intestinalis is considered diagnostic for necrotizing enterocolitis and the air is produced by bacteria in the bowel wall the pathogenesis of pneumatosis intestinalis is poorly understood and is likely multifactorial pi itself is not a disease but rather a clinical sign in some cases pi is an incidental finding whereas in others it portends a life threatening intra abdominal condition
pneumatosis intestinalis also called intestinal pneumatosis pneumatosis cystoides intestinalis or pneumatosis coli is pneumatosis of an intestine that is gas cysts in the bowel wall as a radiological sign it is highly suggestive for necrotizing enterocolitis this is in contrast to gas in the intestinal lumen which is relieved by flatulence in newborns pneumatosis intestinalis is considered diagnostic for necrotizing enterocolitis and the air is produced by bacteria in the bowel wall the pathogenesis of pneumatosis intestinalis is poorly understood and is likely multifactorial pi itself is not a disease but rather a clinical sign in some cases pi is an incidental finding whereas in others it portends a life threatening intra abdominal condition pneumatosis intestinalis at computed tomography in intestinal ischemia lung window for better representation of the gas deposits in the intestinal walls coronal reconstruction pneumatosis intestinalis in the coronal computed tomography in lung window it can be seen next to gas entrapment in the bowel wall and gas in the stomach wall and in numerous vessels including the portal vein into the liver pneumatosis intestinalis in computed tomography with intestinal ischemia lung window for better representation of the gas deposits in the intestinal walls upright ap radiograph showing gas in the wall of the small bowel in the left upper quadrant indicative of pneumatosis intestinalis coronal reformatted mdct image showing extensive pneumatosis intestinalis in the left upper quadrant small bowel the pneumatosis is more cystic and nodular in the small bowel in the midline and the right of midline this patient had a relatively benign presentation without bowel ischemia and was treated conservatively
hemorrhoid
hemorrhoids also spelled haemorrhoids are vascular structures in the anal canal in their normal state they are cushions that help with stool control they become a disease when swollen or inflamed the unqualified term hemorrhoid is often used to mean the disease the signs and symptoms of hemorrhoids depend on the type present internal hemorrhoids usually present with painless bright red rectal bleeding when defecating external hemorrhoids often result in pain and swelling in the area of the anus if bleeding occurs it is usually darker symptoms frequently get better after a few days a skin tag may remain after the healing of an external hemorrhoid
hemorrhoids also spelled haemorrhoids are vascular structures in the anal canal in their normal state they are cushions that help with stool control they become a disease when swollen or inflamed the unqualified term hemorrhoid is often used to mean the disease the signs and symptoms of hemorrhoids depend on the type present internal hemorrhoids usually present with painless bright red rectal bleeding when defecating external hemorrhoids often result in pain and swelling in the area of the anus if bleeding occurs it is usually darker symptoms frequently get better after a few days a skin tag may remain after the healing of an external hemorrhoid while the exact cause of hemorrhoids remains unknown a number of factors which increase pressure in the abdomen are believed to be involved this may include constipation diarrhea and sitting on the toilet for a long time hemorrhoids are also more common during pregnancy diagnosis is made by looking at the area many people incorrectly refer to any symptom occurring around the anal area as hemorrhoids and serious causes of the symptoms should be ruled out colonoscopy or sigmoidoscopy is reasonable to confirm the diagnosis and rule out more serious causes often no specific treatment is needed initial measures consists of increasing fiber intake drinking fluids to maintain hydration nsaids to help with pain and rest medicated creams applied to the area are poorly supported by evidence a number of minor procedures may be performed if symptoms are severe or do not improve with conservative management surgery is reserved for those who fail to improve following these measures half to two thirds of people have problems with hemorrhoids at some point in their lives males and females are affected about equally commonly hemorrhoids affect people most often between 45 and 65 years of age it is more common among the wealthy outcomes are usually good the first known mention of the disease is from a 1700 bc egyptian papyrus
peritonitis
peritonitis is an inflammation of the peritoneum the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs peritonitis may be localized or generalized and may result from infection often due to rupture of a hollow abdominal organ as may occur in abdominal trauma or inflamed appendix or from a non infectious process
pneumoperitoneum
pneumoperitoneum is pneumatosis abnormal presence of air or other gas in the peritoneal cavity a potential space within the abdominal cavity when present it can often be seen on radiography but small amounts are often missed and ct scan is nowadays regarded as a criterion standard in the assessment of a pneumoperitoneum ct can visualize quantities as small as 5 cm ³ of air or gas the most common cause is a perforated abdominal viscus generally a perforated peptic ulcer although any part of the bowel may perforate from a benign ulcer tumor or abdominal trauma a perforated appendix seldom causes a pneumoperitoneum
fatty liver
fatty liver also known as fatty liver disease fld or hepatic steatosis is a reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis i e abnormal retention of lipids within a cell despite having multiple causes fatty liver can be considered a single disease that occurs worldwide in those with excessive alcohol intake and the obese with or without effects of insulin resistance the condition is also associated with other diseases that influence fat metabolism when this process of fat metabolism is disrupted the fat can accumulate in the liver in excessive amounts thus resulting in a fatty liver it is difficult to distinguish alcoholic fld from nonalcoholic fld and both show microvesicular and macrovesicular fatty
fatty liver also known as fatty liver disease fld or hepatic steatosis is a reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis i e abnormal retention of lipids within a cell despite having multiple causes fatty liver can be considered a single disease that occurs worldwide in those with excessive alcohol intake and the obese with or without effects of insulin resistance the condition is also associated with other diseases that influence fat metabolism when this process of fat metabolism is disrupted the fat can accumulate in the liver in excessive amounts thus resulting in a fatty liver it is difficult to distinguish alcoholic fld from nonalcoholic fld and both show microvesicular and macrovesicular fatty changes at different stages accumulation of fat may also be accompanied by a progressive inflammation of the liver hepatitis called steatohepatitis by considering the contribution by alcohol fatty liver may be termed alcoholic steatosis or nonalcoholic fatty liver disease nafld and the more severe forms as alcoholic steatohepatitis part of alcoholic liver disease and non alcoholic steatohepatitis nash
zieve s syndrome
zieve s syndrome is an acute metabolic condition that can occur during withdrawal from prolonged alcohol abuse it is defined by hemolytic anemia with spur cells and acanthocytes hyperlipoproteinaemia excessive blood lipoprotein jaundice elevation of unconjugated bilirubin and abdominal pain the underlying cause is liver delipidization this is distinct from alcoholic hepatitis which however may present simultaneously or develop later
steatohepatitis
steatohepatitis is a type of fatty liver disease characterized by inflammation of the liver with concurrent fat accumulation in liver more deposition of fat in the liver is termed steatosis and together these constitute fatty liver changes the word is from steato meaning fat and hepatitis meaning inflammation of the liver
cirrhosis
cirrhosis is a condition in which the liver does not function properly due to long term damage typically the disease comes on slowly over months or years early on there are often no symptoms as the disease worsens a person may become tired weak itchy have swelling in the lower legs develop yellow skin bruise easily have fluid build up in the abdomen or develop spider like blood vessels on the skin the fluid build up in the abdomen may become spontaneously infected other complications include hepatic encephalopathy bleeding from dilated veins in the esophagus or dilated stomach veins and liver cancer hepatic encephalopathy results in confusion and possibly unconsciousness
cirrhosis is a condition in which the liver does not function properly due to long term damage typically the disease comes on slowly over months or years early on there are often no symptoms as the disease worsens a person may become tired weak itchy have swelling in the lower legs develop yellow skin bruise easily have fluid build up in the abdomen or develop spider like blood vessels on the skin the fluid build up in the abdomen may become spontaneously infected other complications include hepatic encephalopathy bleeding from dilated veins in the esophagus or dilated stomach veins and liver cancer hepatic encephalopathy results in confusion and possibly unconsciousness cirrhosis is most commonly caused by alcohol hepatitis b hepatitis c and non alcoholic fatty liver disease typically more than two or three drinks per day over a number of years is required for alcoholic cirrhosis to occur non alcoholic fatty liver disease is due to a number of reasons including being overweight diabetes high blood fats and high blood pressure a number of less common causes include autoimmune hepatitis primary biliary cirrhosis hemochromatosis certain medications and gallstones cirrhosis is characterized by the replacement of normal liver tissue by scar tissue these changes lead to loss of liver function diagnosis is based on blood testing medical imaging and liver biopsy some causes of cirrhosis such as hepatitis b can be prevented by vaccination treatment partly depends on the underlying cause the goal is often to prevent worsening and complications avoiding alcohol is recommended hepatitis b and c may be treatable with antiviral medications autoimmune hepatitis may be treated with steroid medications ursodiol may be useful if the disease is due to blockage of the bile ducts other medications may be useful for complications such as swelling hepatic encephalopathy and dilated esophageal veins in severe cirrhosis a liver transplant may be an option cirrhosis resulted in 1 2 million deaths in 2013 up from 0 8 million deaths in 1990 of these alcohol caused 384 000 hepatitis c caused 358 000 and hepatitis b caused 317 000 in the united states more men die of cirrhosis than women the first known description of the condition is by hippocrates in the 5 th century bce the word cirrhosis is from greek κίρρωσις kirrhos κιρρός yellowish and osis ωσις meaning condition
hepatotoxicity
hepatotoxicity from hepatic toxicity implies chemical driven liver damage drug induced liver injury is a cause of acute and chronic liver disease the liver plays a central role in transforming and clearing chemicals and is susceptible to the toxicity from these agents certain medicinal agents when taken in overdoses and sometimes even when introduced within therapeutic ranges may injure the organ other chemical agents such as those used in laboratories and industries natural chemicals e g microcystins and herbal remedies can also induce hepatotoxicity chemicals that cause liver injury are called hepatotoxins
cholestasis
cholestasis is a condition where bile cannot flow from the liver to the duodenum the two basic distinctions are an obstructive type of cholestasis where there is a mechanical blockage in the duct system that can occur from a gallstone or malignancy and metabolic types of cholestasis which are disturbances in bile formation that can occur because of genetic defects or acquired as a side effect of many medications
hepatic encephalopathy
hepatic encephalopathy he is the occurrence of confusion altered level of consciousness and coma as a result of liver failure in the advanced stages it is called hepatic coma or coma hepaticum it may ultimately lead to death
liver failure
liver failure or hepatic insufficiency is the inability of the liver to perform its normal synthetic and metabolic function as part of normal physiology two forms are recognised acute and chronic recently a third form of liver failure known as acute on chronic liver failure aclf is increasingly being recognized
primary biliary cirrhosis
primary biliary cirrhosis also known as primary biliary cholangitis pbc is an autoimmune disease of the liver it is marked by slow progressive destruction of the small bile ducts of the liver with the intralobular ducts and the canals of hering intrahepatic ductules affected early in the disease when these ducts are damaged bile and other toxins build up in the liver cholestasis and over time damages the liver tissue in combination with ongoing immune related damage this can lead to scarring fibrosis and cirrhosis
liver abscess
autoimmune hepatitis
autoimmune hepatitis formerly called lupoid hepatitis is a chronic autoimmune disease of the liver that occurs when the body s immune system attacks liver cells causing the liver to be inflamed common initial symptoms include fatigue or muscle aches or signs of acute liver inflammation including fever jaundice and right upper quadrant abdominal pain individuals with autoimmune hepatitis often have no initial symptoms and the disease is detected by abnormal liver function tests
hepatitis
hepatitis is a disease of the liver characterized by the presence of inflammation hepatitis may occur without symptoms but can lead to jaundice a yellow discoloration of the skin mucous membranes and conjunctiva of the eyes poor appetite and fatigue depending on the cause hepatitis can manifest either as an acute or as a chronic disease acute hepatitis can be self limiting resolving on its own can progress to chronic hepatitis or can cause acute liver failure in rare instances chronic hepatitis may have no symptoms or may progress over time to cirrhosis scarring of the liver fibrosis the formation of extra fibrous connective tissue and chronic liver failure cirrhosis of the liver increases the risk of developing hepatocellular carcinoma a form of liver cancer
congestive hepatopathy
congestive hepatopathy also known as nutmeg liver and chronic passive congestion of the liver is liver dysfunction due to venous congestion usually due to congestive heart failure the gross pathological appearance of a liver affected by chronic passive congestion is speckled like a grated nutmeg kernel the dark spots represent the dilated and congested hepatic venules and small hepatic veins the paler areas are unaffected surrounding liver tissue when severe and longstanding hepatic congestion can lead to fibrosis if congestion is due to right heart failure it is called cardiac cirrhosis
peliosis hepatis
peliosis hepatis is an uncommon vascular condition characterised by multiple randomly distributed blood filled cavities throughout the liver the size of the cavities usually ranges between a few millimetres to 3 cm in diameter in the past it was a mere histological curiosity occasionally found at autopsies but has been increasingly recognised with wide ranging conditions from aids to the use of anabolic steroids it also occasionally affects spleen lymph nodes lungs kidneys adrenal glands bone marrow and other parts of gastrointestinal tract
hepatic veno occlusive disease
hepatic veno occlusive disease or veno occlusive disease vod is a condition in which some of the small veins in the liver are obstructed it is a complication of high dose chemotherapy given before a bone marrow transplant bmt and is marked by weight gain due to fluid retention increased liver size and raised levels of bilirubin in the blood the name sinusoidal obstruction syndrome is now preferred if vod happens as a result of chemotherapy or bone marrow transplantation
hepatic veno occlusive disease or veno occlusive disease vod is a condition in which some of the small veins in the liver are obstructed it is a complication of high dose chemotherapy given before a bone marrow transplant bmt and is marked by weight gain due to fluid retention increased liver size and raised levels of bilirubin in the blood the name sinusoidal obstruction syndrome is now preferred if vod happens as a result of chemotherapy or bone marrow transplantation apart from chemotherapy vod may also occur after ingestion of certain plant alkaloids such as pyrrolizidine alkaloids in some herbal teas and has been described as part of a rare hereditary disease called hepatic venoocclusive disease with immunodeficiency which results from mutations in the gene coding for a protein called sp 110
portal hypertension
portal hypertension is hypertension high blood pressure in the hepatic portal system which is composed of the portal vein and its branches and tributaries portal hypertension is defined as elevation of hepatic venous pressure gradient in clinical practice the pressure is not measured directly until the decision to place a transjugular intrahepatic portosystemic shunt has been made part of the procedure a hepatic vein wedge pressure is measured with the assumption of no pressure drop across the liver yielding portal vein pressure
gallstone
a gallstone is a stone formed within the gallbladder out of bile components the term cholelithiasis may refer to the presence of stones in the gallbladder or to the diseases caused by gallstones most people with gallstones about 80 never have symptoms in 1 – 4 of those with gallstones a crampy pain in the right upper part of the abdomen known as biliary colic occurs each year complications of gallstones include inflammation of the gallbladder inflammation of the pancreas and liver inflammation symptoms of these complications may include pain of more than five hours duration fever yellowish skin vomiting or tea color urine
a gallstone is a stone formed within the gallbladder out of bile components the term cholelithiasis may refer to the presence of stones in the gallbladder or to the diseases caused by gallstones most people with gallstones about 80 never have symptoms in 1 – 4 of those with gallstones a crampy pain in the right upper part of the abdomen known as biliary colic occurs each year complications of gallstones include inflammation of the gallbladder inflammation of the pancreas and liver inflammation symptoms of these complications may include pain of more than five hours duration fever yellowish skin vomiting or tea color urine risk factors for gallstones include birth control pills pregnancy a family history of gallstones obesity diabetes liver disease or rapid weight loss gallstones are formed in the gallbladder typically from either cholesterol or bilirubin gallstones may be suspected based on symptoms diagnosis is then typically confirmed by ultrasound complications may be detected on blood tests prevention is by maintaining a healthy weight and eating a proper diet if there are no symptoms treatment is usually not needed in those who are having gallbladder attacks surgery to remove the gallbladder is typically recommended this can be either done through several small incisions or through a single larger incision surgery is typically done under general anesthesia in those who are unable to have surgery medication to try to dissolve the stones or shock wave lithotripsy may be tried in the developed world 10 – 15 of adults have gallstones rates in many parts of africa however are as low as 3 gallbladder and biliary related diseases occurred in about 104 million people 1 6 in 2013 and they resulted in 106 000 deaths women more commonly have stones than men and they occur more commonly after the age of 40 certain ethnic groups have gallstones more often than others for example 48 of american indians have gallstones once the gallbladder is removed outcomes are generally good
cholecystitis
cholecystitis is inflammation of the gallbladder symptoms include right upper abdominal pain nausea vomiting and occasionally fever often acute cholecytitis is proceeded by gallbladder attacks the pain however lasts longer than is typical in a gallbladder attack without appropriate treatment recurrent episodes of cholecystitis are common acute cholecystitis may be complicated by gallstone pancreatitis common bile duct stones or inflammation of the common bile duct
primary sclerosing cholangitis
primary sclerosing cholangitis psc is a disease of the bile ducts that causes inflammation and obliterative fibrosis of bile ducts inside and or outside of the liver this pathological process impedes the flow of bile to the intestines and can lead to cirrhosis of the liver liver failure and other complications including bile duct and liver cancer the underlying cause of the inflammation remains unknown but elements of autoimmunity and microbial dysbiosis have been described and are suggested by the observation that approximately 75 of individuals with psc also have inflammatory bowel disease ibd most often ulcerative colitis the most definitive treatment for psc is liver transplantation though only a fraction of individuals with psc will ultimately require it
haemobilia
biliary sludge
biliary sludge refers to a viscous mixture of small particles derived from bile these sediments consist of cholesterol crystals calcium salts calcium bilirubinate mucin and other materials
ascending cholangitis
ascending cholangitis also known as acute cholangitis or simply cholangitis is an infection of the bile duct cholangitis usually caused by bacteria ascending from its junction with the duodenum first part of the small intestine it tends to occur if the bile duct is already partially obstructed by gallstones
pancreatitis
pancreatitis is inflammation of the pancreas the pancreas is a large organ behind the stomach that produces digestive enzymes there are two main types acute pancreatitis and chronic pancreatitis signs and symptoms of pancreatitis include pain in the upper abdomen nausea and vomiting the pain often goes into the back and is usually severe in acute pancreatitis a fever may occur and symptoms typically resolve in a few days in chronic pancreatitis weight loss fatty stool and diarrhea may occur complications may include infection bleeding diabetes mellitus or problems with other organs
pancreatic pseudocyst
a pancreatic pseudocyst is a circumscribed collection of fluid rich in pancreatic enzymes blood and necrotic tissue typically located in the lesser sac of the abdomen pancreatic pseudocysts are usually complications of pancreatitis although in children they frequently occur following abdominal trauma pancreatic pseudocysts account for approximately 75 of all pancreatic masses
exocrine pancreatic insufficiency
exocrine pancreatic insufficiency epi is the inability to properly digest food due to a lack of digestive enzymes made by the pancreas epi is found in humans afflicted with cystic fibrosis and shwachman diamond syndrome and is common in dogs epi is caused by a progressive loss of the pancreatic cells that make digestive enzymes loss of digestive enzymes leads to maldigestion and malabsorption of nutrients from normal digestive processes chronic pancreatitis is the most common cause of epi in humans and cats in dogs the most common cause is by pancreatic acinar atrophy arising as a result of genetic conditions a blocked pancreatic duct or prior infection
steatorrhea
coeliac disease
coeliac disease also spelled celiac disease is an autoimmune disorder affecting primarily the small intestine that occurs in people who are genetically predisposed classic symptoms include gastrointestinal problems such as chronic diarrhoea abdominal distention malabsorption loss of appetite and among children failure to grow normally this often begins between six months and two years of age non classic symptoms are the most common especially in people older than two years there may be mild or absent gastrointestinal symptoms a wide number of symptoms involving any part of the body or no obvious symptoms coeliac disease was first described in childhood however it may develop at any age it is associated with other autoimmune diseases such as diabetes mellitus type 1 and th
coeliac disease also spelled celiac disease is an autoimmune disorder affecting primarily the small intestine that occurs in people who are genetically predisposed classic symptoms include gastrointestinal problems such as chronic diarrhoea abdominal distention malabsorption loss of appetite and among children failure to grow normally this often begins between six months and two years of age non classic symptoms are the most common especially in people older than two years there may be mild or absent gastrointestinal symptoms a wide number of symptoms involving any part of the body or no obvious symptoms coeliac disease was first described in childhood however it may develop at any age it is associated with other autoimmune diseases such as diabetes mellitus type 1 and thyroiditis among others coeliac disease is caused by a reaction to gluten which are various proteins found in wheat and in other grains such as barley and rye moderate quantities of oats free of contamination with other gluten containing grains are usually tolerated but problems may depend on the type consumed upon exposure to gluten an abnormal immune response may lead to the production of several different autoantibodies that can affect a number of different organs in the small bowel this causes an inflammatory reaction and may produce shortening of the villi lining the small intestine villous atrophy this affects the absorption of nutrients frequently leading to anaemia diagnosis is typically made by a combination of blood antibody tests and intestinal biopsies helped by specific genetic testing making the diagnosis is not always straightforward frequently the autoantibodies in the blood are negative and many people have only minor intestinal changes with normal villi people may have severe symptoms and be investigated for years before a diagnosis is achieved increasingly the diagnosis is being made in people without symptoms as a result of screening while the disease is caused by a permanent intolerance to wheat proteins it is usually classified as different from the other forms of wheat allergy the only known effective treatment is a strict lifelong gluten free diet which leads to recovery of the intestinal mucosa improves symptoms and reduced risk of developing complications in most people if untreated it may result in cancers such as intestinal lymphoma and a slight increased risk of early death rates vary between different regions of the world from as few as 1 in 300 to as many as 1 in 40 with an average of between 1 in 100 and 1 in 170 people in developed countries it is estimated that five out of six cases 83 remain undiagnosed usually because of non classic minimal or absent complaints coeliac disease is slightly more common in women than in men the term coeliac is from the greek κοιλιακός koiliakós abdominal and was introduced in the 19 th century in a translation of what is generally regarded as an ancient greek description of the disease by aretaeus of cappadocia
tropical sprue
tropical sprue is a malabsorption disease commonly found in tropical regions marked with abnormal flattening of the villi and inflammation of the lining of the small intestine it differs significantly from coeliac sprue it appears to be a more severe form of environmental enteropathy
blind loop syndrome
blind loop syndrome bls commonly referred to in the literature as small intestinal bacterial overgrowth sibo or bacterial overgrowth syndrome bos is a state that occurs when the normal bacterial flora of the small intestine proliferates to numbers that cause significant derangement to the normal physiological processes of digestion and absorption in some cases of blind loop syndrome overgrowth of pathogenic non commensal bacteria has also been noted it has long been understood that from birth and throughout life large amounts of bacteria reside symbiotically within animal gastrointestinal tracts such as the human gastrointestinal tract the understanding of this gut flora has even led to novel treatments for bowel irregularity that utilize so called probiotics or good bacter
blind loop syndrome bls commonly referred to in the literature as small intestinal bacterial overgrowth sibo or bacterial overgrowth syndrome bos is a state that occurs when the normal bacterial flora of the small intestine proliferates to numbers that cause significant derangement to the normal physiological processes of digestion and absorption in some cases of blind loop syndrome overgrowth of pathogenic non commensal bacteria has also been noted it has long been understood that from birth and throughout life large amounts of bacteria reside symbiotically within animal gastrointestinal tracts such as the human gastrointestinal tract the understanding of this gut flora has even led to novel treatments for bowel irregularity that utilize so called probiotics or good bacteria that aid in normal digestion the problem of bls arises when the bacterial colonies residing in the upper gastrointestinal tract begin to grow out of control or are altered in their makeup thereby creating a burden on the normal physiological processes occurring in the small intestine this results in problems inclusive of but not restricted to vitamin b 12 deficiency fat malabsorption and steatorrhea fat soluble vitamin deficiencies and intestinal wall injury
small intestinal bacterial overgrowth
small intestinal bacterial overgrowth sibo also termed bacterial overgrowths or small bowel bacterial overgrowth syndrome sbbos is a disorder of excessive bacterial growth in the small intestine unlike the colon or large bowel which is rich with bacteria the small bowel usually has fewer than 10 000 organisms per millilitre patients with bacterial overgrowth typically develop symptoms including nausea bloating vomiting diarrhea malnutrition weight loss and malabsorption which is caused by a number of mechanisms
food intolerance
food intolerance or non allergic food hypersensitivity is a detrimental reaction often delayed to a food beverage food additive or compound found in foods that produces symptoms in one or more body organs and systems but generally refers to reactions other than food allergy food allergies are immune reactions involving mast cells in which food triggers release of mast cell mediators such as histamine when the food allergen binds to pre formed ige antibodies already bound to the mast cell this mechanism causes allergies to typically give immediate reaction a few minutes to a few hours to foods there are numerous causes for other types of food sensitivities most of which in contrast to food allergies cause delayed hypersensitivity reactions to the food
food intolerance or non allergic food hypersensitivity is a detrimental reaction often delayed to a food beverage food additive or compound found in foods that produces symptoms in one or more body organs and systems but generally refers to reactions other than food allergy food allergies are immune reactions involving mast cells in which food triggers release of mast cell mediators such as histamine when the food allergen binds to pre formed ige antibodies already bound to the mast cell this mechanism causes allergies to typically give immediate reaction a few minutes to a few hours to foods there are numerous causes for other types of food sensitivities most of which in contrast to food allergies cause delayed hypersensitivity reactions to the food food intolerances can be classified according to their mechanism intolerance can result from the absence of specific chemicals or enzymes needed to digest a food substance as in hereditary fructose intolerance it may be a result of an abnormality in the body s ability to absorb nutrients as occurs in fructose malabsorption food intolerance reactions can occur to naturally occurring chemicals in foods as in salicylate sensitivity drugs sourced from plants such as aspirin can also cause these kinds of reactions finally it may be the result of non ige mediated immune responses
whipple s disease
whipple s disease is a rare systemic infectious disease caused by the bacterium tropheryma whipplei first described by george hoyt whipple in 1907 and commonly considered a gastrointestinal disorder whipple s disease primarily causes malabsorption but may affect any part of the body including the heart brain joints skin lungs and the eyes weight loss diarrhea joint pain and arthritis are common presenting symptoms but the presentation can be highly variable and approximately 15 of patients do not have these classic signs and symptoms whipple s disease is significantly more common in men with 87 of the patients being male when recognized and treated whipple s disease can usually be cured with long term antibiotic therapy if the disease is left untreated it is ultimatel
short bowel syndrome
short bowel syndrome sbs also short gut syndrome or simply short gut is a malabsorption disorder caused by the surgical removal of a large portion of the small intestine or rarely due to the complete dysfunction of a large segment of small bowel the primary symptoms is diarrhea which ca result in dehydration malnutrition and weight loss
postcholecystectomy syndrome
postcholecystectomy syndrome describes the presence of abdominal symptoms after surgical removal of the gallbladder cholecystectomy symptoms of postcholecystectomy syndrome may include dyspepsia nausea and vomiting flatulence bloating and diarrhea persistent pain in the upper right abdomen symptoms occur in about 5 to 40 percent of patients who undergo cholecystectomy and can be transient persistent or lifelong the chronic condition is diagnosed in approximately 10 of postcholecystectomy cases
postcholecystectomy syndrome describes the presence of abdominal symptoms after surgical removal of the gallbladder cholecystectomy symptoms of postcholecystectomy syndrome may include dyspepsia nausea and vomiting flatulence bloating and diarrhea persistent pain in the upper right abdomen symptoms occur in about 5 to 40 percent of patients who undergo cholecystectomy and can be transient persistent or lifelong the chronic condition is diagnosed in approximately 10 of postcholecystectomy cases the pain associated with postcholecystectomy syndrome is usually ascribed to either sphincter of oddi dysfunction or to post surgical adhesions a recent study shows that postcholecystectomy syndrome can be caused by biliary microlithiasis approximately 50 of cases are due to biliary causes such as remaining stone biliary injury dysmotility and choledococyst the remaining 50 are due to non biliary causes this is because upper abdominal pain and gallstones are both common but are not always related chronic diarrhea in postcholecystectomy syndrome is a type of bile acid diarrhea type 3 this can be treated with a bile acid sequestrant like cholestyramine colestipol or colesevelam which may be better tolerated
hematemesis
hematemesis or haematemesis is the vomiting of blood the source is generally the upper gastrointestinal tract typically above the suspensory muscle of duodenum patients can easily confuse it with hemoptysis coughing up blood although the latter is more common hematemesis is always an important sign
gastrointestinal bleeding
gastrointestinal bleeding gi bleed also known as gastrointestinal hemorrhage is all forms of bleeding in the gastrointestinal tract from the mouth to the rectum when there is significant blood loss over a short time symptoms may include vomiting red blood vomiting black blood bloody stool or black stool small amounts of bleeding over a long time may cause iron deficiency anemia resulting in feeling tired or heart related chest pain other symptoms may include abdominal pain shortness of breath pale skin or passing out sometimes in those with small amounts of bleeding no symptoms may be present
gastrointestinal bleeding gi bleed also known as gastrointestinal hemorrhage is all forms of bleeding in the gastrointestinal tract from the mouth to the rectum when there is significant blood loss over a short time symptoms may include vomiting red blood vomiting black blood bloody stool or black stool small amounts of bleeding over a long time may cause iron deficiency anemia resulting in feeling tired or heart related chest pain other symptoms may include abdominal pain shortness of breath pale skin or passing out sometimes in those with small amounts of bleeding no symptoms may be present bleeding is typically divided into two main types upper gastrointestinal bleeding and lower gastrointestinal bleeding causes of upper gi bleeds include peptic ulcer disease esophageal varices due to liver cirrhosis and cancer among others causes of lower gi bleeds include hemorrhoids cancer and inflammatory bowel disease among others diagnosis typically begins with a medical history and physical examination along with blood tests small amounts of bleeding may be detected by fecal occult blood test endoscopy of the lower and upper gastrointestinal track may locate the area of bleeding medical imaging may be useful in cases that are not clear initial treatment focuses on resuscitation which may include intravenous fluids and blood transfusions often blood transfusions are not recommended unless the hemoglobin is less than 70 or 80 g l treatment with proton pump inhibitors octreotide and antibiotics may be considered in certain cases if other measures are not effective an esophageal balloon may be attempted in those with persumed esophageal varices endoscopy of the esophagus stomach and duodenum or endoscopy of the large bowel are generally recommended within 24 hours and may allow treatment as well as diagnosis an upper gi bleed is more common than lower gi bleed an upper gi bleed occurs in 50 to 150 per 100 000 adults per year a lower gi bleed is estimated to occur in 20 to 30 per 100 000 per year it results in about 300 000 hospital admissions a year in the united states risk of death from a gi bleed is between 5 and 30 risk of bleeding is more common in males and increases with age
staphylococcal scalded skin syndrome
staphylococcal scalded skin syndrome ssss also known as pemphigus neonatorum or ritter s disease or localized bullous impetigo is a dermatological condition caused by staphylococcus aureus
impetigo
impetigo is a bacterial infection that involves the superficial skin the most common presentation is yellowish crust on the face arms or legs less commonly there may be large blisters which affect the groin or armpits the lesions may be painful or itchy fever is uncommon prevention is by handwashing avoiding people who are infected and cleaning injuries treatment is typically with antibiotic creams such as mupirocin or fusidic acid antibiotics by mouth such as cephalexin may be used if large areas are affected antibiotic resistant forms have been found
abscess
an abscess latin abscessus is a collection of pus that has built up within the tissue of the body signs and symptoms of abscesses include redness pain warmth and swelling the swelling may feel fluid filled when pressed the area of redness often extends beyond the swelling carbuncles and boils are types of abscess that often involve hair follicles with carbuncles being larger
boil
a boil also called a furuncle is a deep folliculitis infection of the hair follicle it is most commonly caused by infection by the bacterium staphylococcus aureus resulting in a painful swollen area on the skin caused by an accumulation of pus and dead tissue boils which are expanded are basically pus filled nodules individual boils clustered together are called carbuncles most human infections are caused by coagulase positive s aureus strains notable for the bacteria s ability to produce coagulase an enzyme that can clot blood almost any organ system can be infected by s aureus
carbuncle
a carbuncle is a cluster of boils draining pus onto the skin it is usually caused by bacterial infection most commonly with staphylococcus aureus or streptococcus pyogenes which can turn lethal however the presence of a carbuncle is actually a sign that the immune system is active and fighting the infection responsible for the carbuncle the infection is contagious and may spread to other areas of the body or other people those living in the same residence may develop carbuncles at the same time
cellulitis
cellulitis is a bacterial infection involving the inner layers of the skin it specifically affects the dermis and subcutaneous fat signs and symptoms include an area of redness which increases in size over a couple of days the borders of the area of redness are generally not sharp and the skin may be swollen while the redness often turns white when pressure is applied this is not always the case the area of infection is usually painful lymphatic vessels may occasionally be involved and the person may have a fever and feel tired
cellulitis is a bacterial infection involving the inner layers of the skin it specifically affects the dermis and subcutaneous fat signs and symptoms include an area of redness which increases in size over a couple of days the borders of the area of redness are generally not sharp and the skin may be swollen while the redness often turns white when pressure is applied this is not always the case the area of infection is usually painful lymphatic vessels may occasionally be involved and the person may have a fever and feel tired the legs and face are the most common site involved though cellulitis can occur on any part of the body the leg is typically affected following a break in the skin other risk factors include obesity leg swelling and old age for face infections a break in the skin beforehand is not usually the case the bacteria most commonly involved are streptococci and staphylococcus aureus in contrast to cellulitis erysipelas is a bacterial infection involving the more superficial layers of the skin presents with an area of redness with well defined edges and more often is associated with fever more serious infections such as an underlying bone infection or necrotizing fasciitis should be ruled out diagnosis is usually based on the presenting signs and symptoms with cell culture rarely being possible treatment with antibiotics taken by mouth such as cephalexin amoxicillin or cloxacillin is often used in those who are seriously allergic to penicillin erythromycin or clindamycin may be used when methicillin resistant s aureus mrsa is a concern doxycycline or trimethoprim sulfamethoxazole may in addition be recommended concern is related to the presence of pus or previous mrsa infections steroids may speed recovery in those on antibiotics elevating the infected area may be useful as may pain killers around 95 of people are better after seven to ten days of treatment potential complications include abscess formation bacterial skin infections affected about 155 million people and cellulitis occurred in about 37 million people in 2013 this is about two of every 1000 people per year cellulitis in 2013 resulted in about 30 000 deaths worldwide in the united kingdom cellulitis was the reason for 1 6 of admissions to hospital
paronychia
pilonidal cyst
pilonidal cyst also referred to as a pilonidal abscess pilonidal sinus or sacrococcygeal fistula is a cyst or abscess near or on the natal cleft of the buttocks that often contains hair and skin debris
erythrasma
ecthyma
ecthyma is a variation of impetigo presenting at a deeper level of tissue it is usually associated with group a beta hemolytic streptococcus abbreviated gas
pemphigus
pemphigus ˈpɛmfɪɡəs or pɛmˈfaɪɡəs is a rare group of blistering autoimmune diseases that affect the skin and mucous membranes in pemphigus autoantibodies form against desmoglein desmoglein forms the glue that attaches adjacent epidermal cells via attachment points called desmosomes when autoantibodies attack desmogleins the cells become separated from each other and the epidermis becomes unglued a phenomenon called acantholysis this causes blisters that slough off and turn into sores in some cases these blisters can cover a significant area of the skin
pemphigus vulgaris
pemphigus foliaceus
pemphigus foliaceus is an autoimmune blistering disease of the skin with characteristic lesions that are scaly crusted erosions often on an erythematous base mucosal involvement is absent even with widespread disease if there is an autoimmune igg buildup in the epidermis then nearly all of the antibodies are aimed against desmoglein 1 the effect of the antibodies and the immunological pathway is most likely either of three mechanisms
acantholysis
pemphigoid
pemphigoid is a group of rare autoimmune blistering skin diseases as its name indicates pemphigoid is similar in general appearance to pemphigus but unlike pemphigus pemphigoid does not feature acantholysis a loss of connections between skin cells pemphigoid is more common than pemphigus and is slightly more common in women than in men it is also more common in people over 60 years of age than it is in younger people
bullous pemphigoid
bullous pemphigoid is an acute or chronic autoimmune skin disease involving the formation of blisters more appropriately known as bullae at the space between the skin layers epidermis and dermis it is classified as a type ii hypersensitivity reaction with the formation of anti hemidesmosome antibodies
dermatitis herpetiformis
dermatitis herpetiformis dh or duhring s disease is a chronic blistering skin condition characterised by blisters filled with a watery fluid despite its name dh is neither related to nor caused by herpes virus the name means that it is a skin inflammation having an appearance similar to herpes dh was first described by louis adolphus duhring in 1884 a connection between dh and coeliac disease was recognised in 1967 although the exact causal mechanism is not known dh is a specific manifestation of coeliac disease
atopic dermatitis
atopic dermatitis ad also known as atopic eczema is a type of inflammation of the skin dermatitis it results in itchy red swollen and cracked skin clear fluid may come from the affected areas which often thicken over time the condition typically starts in childhood with changing severity over the years in children under one year of age much of the body may be affected as people get older the back of the knees and front of the elbows are the most common areas affected in adults the hands and feet are the most commonly affected areas scratching worsens symptoms and affected people have an increased risk of skin infections many people with atopic dermatitis develop hay fever or asthma
atopic dermatitis ad also known as atopic eczema is a type of inflammation of the skin dermatitis it results in itchy red swollen and cracked skin clear fluid may come from the affected areas which often thicken over time the condition typically starts in childhood with changing severity over the years in children under one year of age much of the body may be affected as people get older the back of the knees and front of the elbows are the most common areas affected in adults the hands and feet are the most commonly affected areas scratching worsens symptoms and affected people have an increased risk of skin infections many people with atopic dermatitis develop hay fever or asthma the cause is unknown but believed to involve genetics immune system dysfunction environmental exposures and difficulties with the permeability of the skin if one identical twin is affected there is an 85 chance the other also has the condition those who live in cities and dry climates are more commonly affected exposure to certain chemicals or frequent hand washing makes symptoms worse while emotional stress may make the symptoms worse it is not a cause the disorder is not contagious the diagnosis is typically based on the signs and symptoms other diseases that must be excluded before making a diagnosis include contact dermatitis psoriasis and seborrheic dermatitis treatment involves avoiding things that make the condition worse daily bathing with application of a moisturising cream afterwards applying steroid creams when flares occur and medications to help with itchiness things that commonly make it worse include wool clothing soaps perfumes chlorine dust and cigarette smoke phototherapy may be useful in some people steroid pills or creams based on calcineurin inhibitors may occasionally be used if other measures are not effective antibiotics either by mouth or topically may be needed if a bacterial infection develops dietary changes are only needed if food allergies are suspected atopic dermatitis affects about 20 of people at some point in their lives it is more common in younger children males and females are equally affected many people outgrow the condition atopic dermatitis is sometimes called eczema a term that also refers to a larger group of skin conditions other names include infantile eczema flexural eczema prurigo besnier allergic eczema and neurodermatitis
dermatitis
dermatitis also known as eczema is a group of diseases that results in inflammation of the skin these diseases are characterized by itchiness red skin and a rash in cases of short duration there may be small blisters while in long term cases the skin may become thickened the area of skin involved can vary from small to the entire body
dermatitis also known as eczema is a group of diseases that results in inflammation of the skin these diseases are characterized by itchiness red skin and a rash in cases of short duration there may be small blisters while in long term cases the skin may become thickened the area of skin involved can vary from small to the entire body dermatitis is a group of skin conditions that includes atopic dermatitis allergic contact dermatitis irritant contact dermatitis and stasis dermatitis the exact cause of dermatitis is often unclear cases are believed to often involve a combination of irritation allergy and poor venous return the type of dermatitis is generally determined by the person s history and the location of the rash for example irritant dermatitis often occurs on the hands of people who frequently get them wet allergic contact dermatitis however can occur following brief exposures to specific substances to which a person is sensitive treatment of atopic dermatitis is typically with moisturizers and steroid creams the steroid creams should generally be of mid to high strength and used for less than two weeks at a time as side effects can occur antibiotics may be required if there are signs of skin infection contact dermatitis is typically treated by avoiding the allergen or irritant antihistamines may be used to help with sleep and to decrease nighttime scratching dermatitis was estimated to affect 334 million people globally in 2013 atopic dermatitis is the most common type and generally starts in childhood in the united states it affects about 10 30 of people contact dermatitis is two times more common in females than males allergic contact dermatitis affects about 7 of people at some point in time irritant contact dermatitis is common especially among people who do certain jobs however exact rates are unclear
hand eczema
hand eczema presents on the palms and soles and may sometimes be difficult or impossible to differentiate from atopic dermatitis allergic contact dermatitis and psoriasis which also commonly involve the hands even a biopsy of all these conditions may not result in a definitive diagnosis as all three conditions may demonstrate spongiosis and crusting on the hands
hand eczema presents on the palms and soles and may sometimes be difficult or impossible to differentiate from atopic dermatitis allergic contact dermatitis and psoriasis which also commonly involve the hands even a biopsy of all these conditions may not result in a definitive diagnosis as all three conditions may demonstrate spongiosis and crusting on the hands non communicable inflammation of the skin of the hands is referred to as hand eczema hand eczema is widely prevalent and as it is a very visible condition associated with severe itching or pain has serious consequences for the affected person including a high psychological impact different disease patterns can be identified according to the course of the illness appearance of symptoms degree of severity or catalysts prognosis is hard to predict for individual cases of chronic hand eczema and usually differs from patient to patient successful treatment depends on determining the causes of the condition obtaining an accurate diagnosis sustainable hand protection procedures and an early extensive and where appropriate internal treatment
seborrhoeic dermatitis
seborrheic dermatitis also known as seborrheic eczema or simply as seborrhea is a chronic relapsing and usually mild dermatitis in infants seborrheic dermatitis is called cradle cap dandruff is a type of seborrhoeic dermatitis where inflammation is not present seborrheic dermatitis is a skin disorder affecting the scalp face and torso typically seborrheic dermatitis presents with scaly flaky itchy and red skin it particularly affects the sebaceous gland rich areas of skin in adolescents and adults seborrhoeic dermatitis usually presents as scalp scaling or as redness of the nasolabial fold
cradle cap
cradle cap is a yellowish patchy greasy scaly and crusty skin rash that occurs on the scalp of recently born babies it is usually not itchy and does not bother the baby cradle cap most commonly begins sometime in the first 3 months similar symptoms in older children are more likely to be dandruff than cradle cap the rash is often prominent around the ear the eyebrows or the eyelids it may appear in other locations as well where it is called seborrhoeic dermatitis rather than cradle cap some countries use the term pityriasis capitis for cradle cap it is extremely common with about half of all babies affected most of them have a mild version of the disorder severe cradle cap is rare
irritant diaper dermatitis
irritant diaper dermatitis is a generic term applied to skin rashes in the diaper area that are caused by various skin disorders and or irritants generic rash or irritant diaper dermatitis idd is characterized by joined patches of erythema and scaling mainly seen on the convex surfaces with the skin folds spared diaper dermatitis with secondary bacterial or fungal involvement tends to spread to concave surfaces i e skin folds as well as convex surfaces and often exhibits a central red beefy erythema with satellite pustules around the border
irritant diaper dermatitis is a generic term applied to skin rashes in the diaper area that are caused by various skin disorders and or irritants generic rash or irritant diaper dermatitis idd is characterized by joined patches of erythema and scaling mainly seen on the convex surfaces with the skin folds spared diaper dermatitis with secondary bacterial or fungal involvement tends to spread to concave surfaces i e skin folds as well as convex surfaces and often exhibits a central red beefy erythema with satellite pustules around the border it is usually considered a form of irritant contact dermatitis despite the word diaper in the name the dermatitis is not due to the diaper itself but to the materials trapped by the diaper usually feces allergic contact dermatitis has also been suggested but there is little evidence for this etiology the term diaper candidiasis is used when a fungal origin is identified the distinction is critical because the treatment antifungals is completely different
irritant contact dermatitis
irritant contact dermatitis is a form of contact dermatitis that can be divided into forms caused by chemical irritants and those caused by physical irritants
contact dermatitis
erythroderma
drug eruption
in medicine a drug eruption is an adverse drug reaction of the skin most drug induced cutaneous reactions are mild and disappear when the offending drug is withdrawn these are called simple drug eruptions however more serious drug eruptions may be associated with organ injury such as liver or kidney damage and are categorized as complex drugs can also cause hair and nail changes affect the mucous membranes or cause itching without outward skin changes
lichen simplex chronicus
lichen simplex chronicus also known as neurodermatitis is a skin disorder characterized by chronic itching and scratching the constant scratching causes thick leathery brownish skin this condition is more common between ages 30 and 50 and is seen more in women than in men
itch
itch also known as pruritus is a sensation that causes the desire or reflex to scratch itch has resisted many attempts to classify it as any one type of sensory experience modern science has shown that itch has many similarities to pain and while both are unpleasant sensory experiences their behavioral response patterns are different pain creates a withdrawal reflex whereas itch leads to a scratch reflex
itch also known as pruritus is a sensation that causes the desire or reflex to scratch itch has resisted many attempts to classify it as any one type of sensory experience modern science has shown that itch has many similarities to pain and while both are unpleasant sensory experiences their behavioral response patterns are different pain creates a withdrawal reflex whereas itch leads to a scratch reflex unmyelinated nerve fibers for itch and pain both originate in the skin however information for them is conveyed centrally in two distinct systems that both use the same nerve bundle and spinothalamic tract
pruritus ani
aquagenic pruritus
dyshidrosis
dyshidrosis is a type of dermatitis that is characterized by itchy blisters on the palms of the hands and bottoms of the feet the blister are generally one to two millimeters in size and heal over three weeks redness is not usually present they however often recur repeated attacks may result in fissures and skin thickening about 1 in 2 000 people are affected in sweden males and females appear to be affected equally the first description was in 1873 the name comes from the word dyshidrotic meaning difficult sweating as problems with sweating was once believed to be the cause
id reaction
id reactions also known as disseminated eczema and generalized eczema present with a variety of infectious disorders often occurring in response to an inflammatory tinea of the feet resulting in an eczematous dermatitis the inflammation is in the absence of a locally visible cause
intertrigo
an intertrigo is an inflammation rash of the body folds adjacent areas of skin the term intertrigo commonly refers to a bacterial fungal or viral infection that has developed at the site of broken skin due to such inflammation a frequent manifestation is candidal intertrigo
pityriasis alba
psoriasis
psoriasis is a long lasting autoimmune disease which is characterized by patches of abnormal skin these skin patches are typically red itchy and scaly they may vary in severity from small and localized to complete body coverage injury to the skin can trigger psoriatic skin changes at that spot which is known as koebner phenomenon
psoriasis is a long lasting autoimmune disease which is characterized by patches of abnormal skin these skin patches are typically red itchy and scaly they may vary in severity from small and localized to complete body coverage injury to the skin can trigger psoriatic skin changes at that spot which is known as koebner phenomenon there are five main types of psoriasis plaque guttate inverse pustular and erythrodermic plaque psoriasis also known as psoriasis vulgaris makes up about 90 of cases it typically presents with red patches with white scales on top areas of the body most commonly affected are the back of the forearms shins around the navel and the scalp guttate psoriasis has drop shaped lesions pustular psoriasis presents with small non infectious pus filled blisters inverse psoriasis forms red patches in skin folds erythrodermic psoriasis occurs when the rash becomes very widespread and can develop from any of the other types fingernails and toenails are affected in most people at some point in time this may include pits in the nails or changes in nail color psoriasis is generally thought to be a genetic disease which is triggered by environmental factors in twin studies identical twins are three times more likely to both be affected compared to non identical twins this suggests that genetic factors predispose to psoriasis symptoms often worsen during winter and with certain medications such as beta blockers or nsaids infections and psychological stress may also play a role psoriasis is not contagious the underlying mechanism involves the immune system reacting to skin cells diagnosis is typically based on the signs and symptoms there is no cure for psoriasis however various treatments can help control the symptoms these treatments may include steroid creams vitamin d 3 cream ultraviolet light and immune system suppressing medications such as methotrexate about 75 of cases can be managed with creams alone the disease affects 2 – 4 of the population men and women are affected with equal frequency the disease may begin at any age psoriasis is associated with an increased risk of psoriatic arthritis lymphomas cardiovascular disease crohn s disease and depression psoriatic arthritis affects up to 30 of individuals with psoriasis
psoriatic arthritis
parapsoriasis
pityriasis lichenoides et varioliformis acuta
lymphomatoid papulosis
pityriasis rosea
pityriasis rosea also known as pityriasis rosea gibert is a skin rash it is benign but may inflict substantial discomfort in certain cases classically it begins with a single herald patch lesion followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks however usually around 6 8
lichen planus
lichen planus lp is an uncommon disease of the skin with a prevalence reported between 0 1 – 0 3 in men and women respectively the cause is unknown but it is thought to be the result of an autoimmune process with an unknown initial trigger there is no cure but many different medications and procedures have been used in efforts to control the symptoms
pityriasis rubra pilaris
pityriasis rubra pilaris also known as devergie s disease lichen ruber acuminatus and lichen ruber pilaris refers to a group of chronic disorders characterized by reddish orange scaling plaques and keratotic follicular papules symptoms may include reddish orange patches latin rubra on the skin severe flaking latin pityriasis uncomfortable itching thickening of the skin on the feet and hands and thickened bumps around hair follicles latin pilus for hair for some early symptoms may also include generalized swelling of the legs feet and other parts of the body prp has a varied clinical progression and a varied rate of improvement there is no known cause or cure although stress is a common factor
gianotti – crosti syndrome
hives
hives also known as urticaria is a kind of skin rash with red raised itchy bumps they may also burn or sting often the patches of rash move around typically they last a few days and do not leave any long lasting skin changes fewer than 5 of cases last for more than six weeks the condition frequently recurs
hives also known as urticaria is a kind of skin rash with red raised itchy bumps they may also burn or sting often the patches of rash move around typically they last a few days and do not leave any long lasting skin changes fewer than 5 of cases last for more than six weeks the condition frequently recurs hives frequently occur following an infection or as a result of an allergic reaction such as to medication insect bites or food psychological stress cold temperature or vibration may also be a trigger in half of cases the cause remains unknown risk factors include having conditions such as hay fever or asthma diagnosis is typically based on the appearance patch testing may be useful to determine the allergy prevention is by avoiding whatever it is that causes the condition treatment is typically with antihistamines such as diphenhydramine and ranitidine in severe cases corticosteroids or leukotriene inhibitors may also be used keeping the environmental temperature cool is also useful for cases that last more than six weeks immunosuppressants such as ciclosporin may be used about 20 of people are affected cases of short duration occur equally in males and females while cases of long duration are more common in females cases of short duration are more common among children while cases of long duration are more common among those who are middle aged hives have been described at least since the time of hippocrates the term urticaria is from the latin urtica meaning nettle
dermatographic urticaria
dermatographic urticaria also known as dermographism dermatographism or skin writing is a skin disorder and one of the most common types of urticaria affecting 4 – 5 of the population
aquagenic urticaria
erythema multiforme
erythema
stevens – johnson syndrome
stevens – johnson syndrome a form of toxic epidermal necrolysis is a life threatening skin condition in which cell death causes the epidermis to separate from the dermis the syndrome is thought to be a hypersensitivity complex that affects the skin and the mucous membranes the best known causes are certain medications such as lamotrigine but it can also be due to infections or more rarely cancers
toxic epidermal necrolysis
toxic epidermal necrolysis ten also known as lyell s syndrome is a rare life threatening skin condition that is usually caused by a reaction to drugs the disease causes the top layer of skin the epidermis to detach from the lower layers of the skin the dermis all over the body leaving the body susceptible to severe infection the case fatality ratio ranges from 25 to 30 and death usually occurs as a result of sepsis and subsequent multiorgan system failure treatment primarily involves discontinuing the use of causative agent s and supportive care in either the intensive care unit or burn unit of a hospital
erythema nodosum
palmar erythema
palmar erythema is reddening of the palms at the thenar and hypothenar eminences
sunburn
sunburn is a form of radiation burn that affects living tissue such as skin that results from an overexposure to ultraviolet uv radiation commonly from the sun common symptoms in humans and other animals include red or reddish skin that is hot to the touch pain general fatigue and mild dizziness an excess of uv radiation can be life threatening in extreme cases exposure of the skin to lesser amounts of uv radiation will often produce a suntan
sunburn is a form of radiation burn that affects living tissue such as skin that results from an overexposure to ultraviolet uv radiation commonly from the sun common symptoms in humans and other animals include red or reddish skin that is hot to the touch pain general fatigue and mild dizziness an excess of uv radiation can be life threatening in extreme cases exposure of the skin to lesser amounts of uv radiation will often produce a suntan excessive uv radiation is the leading cause of primarily non malignant skin tumors sunscreen is widely agreed to prevent sunburn and some types of skin cancer clothing including hats is considered the preferred skin protection method moderate sun tanning without burning can also prevent subsequent sunburn as it increases the amount of melanin a photoprotective pigment that is the skin s natural defense against overexposure importantly both sunburn and the increase in melanin production are triggered by direct dna damage when the skin cells dna is overly damaged by uv radiation type i cell death is triggered and the skin is replaced
phytophotodermatitis
phytophotodermatitis also known as lime disease not to be confused with lyme disease berloque dermatitis or margarita photodermatitis is a chemical reaction which makes skin hypersensitive to ultraviolet light it is frequently mistaken for hereditary conditions such as atopic dermatitis or chemical burns but it is caused by contact with the photosensitizing compounds found naturally in some plants and vegetables like parsnips citrus fruits and more symptoms include burning itching stinging and large blisters that slowly accumulate over time
solar urticaria
solar urticaria su is a rare condition in which exposure to ultraviolet or uv radiation or sometimes even visible light induces a case of urticaria or hives that can appear in both covered and uncovered areas of the skin it is classified as a type of physical urticaria the classification of disease types is somewhat controversial one classification system distinguished various types of su based on the wavelength of the radiation that causes the breakout another classification system is based on the type of allergen that initiates a breakout
acne aestivalis
acne aestivalis also known as mallorca acne is a special form of polymorphous light eruption it is a monomorphous eruption consisting of multiple uniform red papular lesions reported to occur after sun exposure
polymorphous light eruption
polymorphous light eruption ple or polymorphic light eruption pmle is a skin condition triggered by sunlight
actinic keratosis
actinic keratosis also called solar keratosis and senile keratosis abbreviated as ak is a pre cancerous patch of thick scaly or crusty skin these growths are more common in fair skinned people and those who are frequently in the sun they usually form when skin gets damaged by ultraviolet uv radiation from the sun or indoor tanning beds aks are considered potentially pre cancerous left untreated they may turn into a type of cancer called squamous cell carcinoma untreated lesions have up to a 20 risk of progression to squamous cell carcinoma so treatment by a dermatologist is recommended
actinic keratosis also called solar keratosis and senile keratosis abbreviated as ak is a pre cancerous patch of thick scaly or crusty skin these growths are more common in fair skinned people and those who are frequently in the sun they usually form when skin gets damaged by ultraviolet uv radiation from the sun or indoor tanning beds aks are considered potentially pre cancerous left untreated they may turn into a type of cancer called squamous cell carcinoma untreated lesions have up to a 20 risk of progression to squamous cell carcinoma so treatment by a dermatologist is recommended development of these growths occurs when skin is constantly exposed to the sun over time they usually appear as thick scaly or crusty areas that often feel dry or rough in fact aks are often felt before they are seen and the texture is often compared to sandpaper they may be dark light tan pink red a combination of all these or have the same color as the surrounding skin an actinic keratosis lesion commonly ranges between 2 and 6 millimeters in size but can grow to be a few centimeters in diameter they often appear on sun exposed areas of the skin such as the face ears neck scalp chest backs of hands forearms or lips because they are related to sun damage on the skin most people who have an ak have more than one often large areas of sun exposed skin are diagnosed with a continuum of multiple clinically visible aks of different sizes and severities typically accompanied by subclinical lesions that become apparent only in biopsies this concept of a skin area showing multiple aks is termed field cancerization diagnosis is suspected clinically on physical exam but can be confirmed by looking at cells from the lesion under a microscope different therapeutic options for ak are available photodynamic therapy pdt is recommended for the treatment of multiple ak lesions and field cancerization it involves the application of a photosensitizer to the skin followed by illumination with a strong light source topical creams may require daily application to affected skin areas over longer time periods cryotherapy is frequently used for single lesions but undesired hypopigmentation may occur at the treatment site by following up with a dermatologist aks can be treated before they turn into skin cancer if skin cancer does develop from an ak lesion it can be caught early with close monitoring at a time when treatment can be curative
cutis laxa
cutis laxa also known as chalazoderma dermatochalasia dermatolysis dermatomegaly generalized elastolysis generalized elastorrhexis or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds
photodermatitis
photodermatitis sometimes referred to as sun poisoning or photoallergy is a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response and to cause a rash or other systemic effects on subsequent exposure the second and subsequent exposures produce photoallergic skin conditions which are often eczematous in rare cases the victims die
radiation burn
a radiation burn is damage to the skin or other biological tissue caused by exposure to radiation the radiation types of greatest concern are thermal radiation radio frequency energy ultraviolet light and ionizing radiation
a radiation burn is damage to the skin or other biological tissue caused by exposure to radiation the radiation types of greatest concern are thermal radiation radio frequency energy ultraviolet light and ionizing radiation the most common type of radiation burn is a sunburn caused by uv radiation high exposure to x rays during diagnostic medical imaging or radiotherapy can also result in radiation burns as the ionizing radiation interacts with cells within the body — damaging them — the body responds to this damage typically resulting in erythema — that is redness around the damaged area radiation burns are often associated with radiation induced cancer due to the ability of ionizing radiation to interact with and damage dna occasionally inducing a cell to become cancerous cavity magnetrons can be improperly used to create surface and internal burning depending on the photon energy gamma radiation can cause very deep gamma burns with 60 co internal burns are common beta burns tend to be shallow as beta particles are not able to penetrate deep into the person these burns can be similar to sunburn radiation burns can also occur with high power radio transmitters at any frequency where the body absorbs radio frequency energy and converts it to heat the u s federal communications commission fcc considers 50 watts to be the lowest power above which radio stations must evaluate emission safety frequencies considered especially dangerous occur where the human body can become resonant at 35 mhz 70 mhz 80 100 mhz 400 mhz and 1 ghz exposure to microwaves of too high intensity can cause microwave burns
erythema ab igne
erythema ab igne eai also known as hot water bottle rash fire stains laptop thigh granny s tartan and toasted skin syndrome is a skin condition caused by long term exposure to heat infrared radiation prolonged thermal radiation exposure to the skin can lead to the development of reticulated erythema hyperpigmentation scaling and telangiectasias in the affected area some people may complain of mild itchiness and a burning sensation but often unless a change in pigmentation is seen it can go unnoticed
ingrown nail
onychocryptosis from greek ὄνυξ onyx nail κρυπτός kryptos hidden also known as an ingrown toenail or unguis incarnates is a common form of nail disease it is an often painful condition in which the nail grows so that it cuts into one or both sides of the paronychium or nail bed a true ingrown toenail or onychocryptosis is caused by the actual penetration of flesh by a sliver of nail
onychocryptosis from greek ὄνυξ onyx nail κρυπτός kryptos hidden also known as an ingrown toenail or unguis incarnates is a common form of nail disease it is an often painful condition in which the nail grows so that it cuts into one or both sides of the paronychium or nail bed the common opinion is that the nail enters inside the paronychium but an ingrown toenail can simply be overgrown toe skin the condition starts from a microbial inflammation of the paronychium then a granuloma which results in a nail buried inside of the granuloma while ingrown nails can occur in the nails of both the hands and the feet they occur most commonly with the toenails a true ingrown toenail or onychocryptosis is caused by the actual penetration of flesh by a sliver of nail
onychauxis
onychauxis presents with thickened nails without deformity and this simple thickening may be the result of trauma acromegaly darier s disease psoriasis or pityriasis rubra pilaris or in some cases hereditary
koilonychia
koilonychia from the greek koilos hollow onikh nail also known as spoon nails is a nail disease that can be a sign of hypochromic anemia especially iron deficiency anemia it refers to abnormally thin nails usually of the hand which have lost their convexity becoming flat or even concave in shape in a sense koilonychia is the opposite of nail clubbing in early stages nails may be brittle and chip or breakeasily koilonychia is associated with plummer vinson syndrome and iron deficiency anemia
beau s lines
beau s lines are deep grooved lines that run from side to side on the fingernail or the toenail they may look like indentations or ridges in the nail plate this condition of the nail was named by a french physician joseph honoré simon beau 1806 – 1865 who first described it in 1846 a researcher found beau s lines in the fingernails of two of six divers following a deep saturation dive to a pressure equal to 305 meters of sea water and in six of six divers following a similar dive to 335 meters they have also been seen in ötzi the ice man
beau s lines are deep grooved lines that run from side to side on the fingernail or the toenail they may look like indentations or ridges in the nail plate this condition of the nail was named by a french physician joseph honoré simon beau 1806 – 1865 who first described it in 1846 beau s lines are horizontal going across the nail and should not be confused with vertical ridges going from the bottom cuticle of the nail out to the fingertip these vertical lines are usually a natural consequence of aging and are harmless beau s lines should also be distinguished from muehrcke s lines of the fingernails while beau s lines are actual ridges and indentations in the nail plate muehrcke lines are areas of hypopigmentation without palpable ridges they affect the underlying nail bed and not the nail itself beau s lines should also be distinguished from mees lines of the fingernails which are areas of discoloration in the nail plate there are several causes of beau s lines it is believed that there is a temporary cessation of cell division in the nail matrix this may be caused by an infection or problem in the nail fold where the nail begins to form or it may be caused by an injury to that area some other reasons for these lines include trauma coronary occlusion hypocalcaemia and skin disease they may be a sign of systemic disease or may also be caused by an illness of the body as well as drugs used in chemotherapy or malnutrition beau s lines can also be seen one to two months after the onset of fever in children with kawasaki disease human nails grow at a rate which varies with many factors age sex and the finger or toe in question as well as nutrition however typically in healthy populations fingernails grow at about 0 1 mm day and toenails at about 0 05 mm day with this in mind the date of the stress causing beau s lines and other identifiable marks on nails can be estimated as the nail grows out the ridge visibly moves upwards toward the nail edge when the ridge reaches the nail edge the fingertips can become quite sore due to the mis shapen nail pressing into the flesh deeper than usual exposing the sensitive nail bed the quick at the nail edge a researcher found beau s lines in the fingernails of two of six divers following a deep saturation dive to a pressure equal to 305 meters of sea water and in six of six divers following a similar dive to 335 meters they have also been seen in ötzi the ice man
yellow nail syndrome
yellow nail syndrome also known as primary lymphedema associated with yellow nails and pleural effusion is a very rare medical syndrome that includes pleural effusions lymphedema due to under development of the lymphatic vessels and yellow dystrophic nails approximately 40 will also have bronchiectasis it is also associated with chronic sinusitis and persistent coughing it usually affects adults
ophiasis
ophiasis is a form of alopecia areata characterized by the loss of hair in the shape of a wave at the circumference of the head it gets its name from ophis which is the greek word for snake because of the apparent similarity to a snake shape and the pattern of hair loss the term sisaipho is used to characterize the inverse pattern sisaipho is the reverse spelling of ophiasis it is also called ophiasis inversus ophiasis has poor prognostic significance
alopecia mucinosa
hair loss
hair loss also known as alopecia or baldness refers to a loss of hair from part of the head or body typically at least the head is involved the severity of hair loss can vary from a small area to the entire body typically inflammation or scarring is not present hair loss in some people causes psychological distress
hair loss also known as alopecia or baldness refers to a loss of hair from part of the head or body typically at least the head is involved the severity of hair loss can vary from a small area to the entire body typically inflammation or scarring is not present hair loss in some people causes psychological distress common types include male pattern hair loss female pattern hair loss alopecia areata and a thinning of hair known as telogen effluvium the cause of male pattern hair loss is a combination of genetics and male hormones the cause of female pattern hair loss is unclear the cause of alopecia areata is autoimmune and the cause of is telogen effluvium is typically a physically or psychologically stressful event telogen effluvium is very common following pregnancy less common causes of hair loss without inflammation or scarring include the pulling out of hair certain medications including chemotherapy hiv aids hypothyroidism and malnutrition including iron deficiency causes of hair loss that occurs with scarring or inflammation include fungal infection lupus erythematosus radiation therapy and sarcoidosis diagnosis of hair loss is partly based on the areas affected treatment of pattern hair loss may simply involve accepting the condition intervention that can be tried include the medications minoxidil or finasteride and hair transplant surgery alopecia areata may be treated by steroid injections in the affected area but these need to be frequently repeated to be affective hair loss is a common problem pattern hair loss by age 50 affects about half of males and a quarter of females about 2 of people develop alopecia areata at some point in time
hypertrichosis
hypertrichosis also called ambras syndrome is an abnormal amount of hair growth over the body extensive cases of hypertrichosis have informally been called werewolf syndrome because the appearance is similar to the mythical werewolf the two distinct types of hypertrichosis are generalized hypertrichosis which occurs over the entire body and localized hypertrichosis which is restricted to a certain area hypertrichosis can be either congenital present at birth or acquired later in life the excess growth of hair occurs in areas of the skin with the exception of androgen dependent hair of the pubic area face and axillary regions
hypertrichosis also called ambras syndrome is an abnormal amount of hair growth over the body extensive cases of hypertrichosis have informally been called werewolf syndrome because the appearance is similar to the mythical werewolf the two distinct types of hypertrichosis are generalized hypertrichosis which occurs over the entire body and localized hypertrichosis which is restricted to a certain area hypertrichosis can be either congenital present at birth or acquired later in life the excess growth of hair occurs in areas of the skin with the exception of androgen dependent hair of the pubic area face and axillary regions several circus sideshow performers in the 19 th and early 20 th centuries such as julia pastrana had hypertrichosis many of them worked as freaks and were promoted as having distinct human and animal traits
hirsutism
acne vulgaris
acne vulgaris or simply acne is a long term skin disease that occurs when hair follicles become clogged with dead skin cells and oil from the skin acne is characterized by areas of blackheads whiteheads pimples and greasy skin and may result in scarring the resulting appearance can lead to anxiety reduced self esteem and in extreme cases depression or thoughts of suicide
chloracne
chloracne is an acne like eruption of blackheads cysts and pustules associated with over exposure to certain halogenated aromatic compounds such as chlorinated dioxins and dibenzofurans the lesions are most frequently found on the cheeks behind the ears in the armpits and groin region
acne cosmetica
the term acne cosmetica refers to acne caused by or aggravated by cosmetics the mechanism was presumably a chemically induced plugging of the pilosebaceous orifice this became a significant problem for dermatologists in the 1970 s and 1980 s but with the improved formulations produced by cosmetic chemists over the past thirty years a diagnosis of acne cosmetica has become relatively rare daily dermatological practice the production of a low grade folliculitis by some components of cosmetic products has led to misdiagnosis on occasion
rosacea
rosacea is a long term skin condition characterized by facial redness small and superficial dilated blood vessels on facial skin papules pustules and swelling rosacea typically begins as redness on the central face across the cheeks nose or forehead but can also less commonly affect the neck chest ears and scalp in some cases additional signs such as semipermanent redness dilation of superficial blood vessels on the face red domed papules small bumps and pustules red gritty eyes burning and stinging sensations and in some advanced cases a red lobulated nose rhinophyma may develop
rosacea is a long term skin condition characterized by facial redness small and superficial dilated blood vessels on facial skin papules pustules and swelling rosacea typically begins as redness on the central face across the cheeks nose or forehead but can also less commonly affect the neck chest ears and scalp in some cases additional signs such as semipermanent redness dilation of superficial blood vessels on the face red domed papules small bumps and pustules red gritty eyes burning and stinging sensations and in some advanced cases a red lobulated nose rhinophyma may develop rosacea affects all ages and has four subtypes three affecting the skin and the fourth affecting the eyes ocular rosacea it primarily affects people of northwestern european descent and has been nicknamed the curse of the celts by some in britain and ireland although such a connection has been questioned rosacea is almost three times more common in women it is commonly found in people between the ages of 30 and 50 and is more common in caucasians treatment has typically been with doxycycline tetracycline or metronidazole other treatments with tentative benefit include brimonidine cream ivermectin cream and isotretinoin
perioral dermatitis
perioral dermatitis also called periorifical dermatitis is skin disease characterised by multiple small 1 – 2 mm papules pustules and vesicles which are localized to the perioral skin around the mouth perinasal or nasolabial folds around the nostrils or perioccular area around the eyes it most commonly affects women between the ages of 20 and 45 years but may also affect children men and the elderly it is not uncommon and has a tendency to recur in individuals who have had it once
epidermoid cyst
an epidermoid cyst is a benign cyst usually found on the skin the cyst develops out of ectodermal tissue histologically it is made of a thin layer of squamous epithelium
steatocystoma multiplex
steatocystoma multiplex also known as epidermal polycystic disease and sebocystomatosis is a benign autosomal dominant congenital condition resulting in multiple cysts on a person s body first described by jamieson in 1873 and coined by pringle in 1899 steatocystoma multiplex sm is an uncommon disorder of the pilosebaceous unit characterized by the development of numerous sebum containing dermal cysts although steatocystoma multiplex has historically been described as an autosomal dominant inherited disorder most presenting cases are sporadic steatocystoma simplex is the sporadic solitary tumor counterpart to steatocystoma multiplex
milium dermatology
a milium plural milia also called a milk spot or an oil seed is a clog of the eccrine duct the true sweat gland it is a keratin filled cyst that can appear just under the epidermis or on the roof of the mouth milia are commonly associated with newborn babies but can appear on people of all ages they are usually found around the nose and eyes and sometimes on the genitalia often mistaken by those affected as warts or other sexually transmitted diseases milia can also be confused with stubborn whiteheads
a milium plural milia also called a milk spot or an oil seed is a clog of the eccrine duct the true sweat gland it is a keratin filled cyst that can appear just under the epidermis or on the roof of the mouth milia are commonly associated with newborn babies but can appear on people of all ages they are usually found around the nose and eyes and sometimes on the genitalia often mistaken by those affected as warts or other sexually transmitted diseases milia can also be confused with stubborn whiteheads in children milia often disappear within two to four weeks for adults they can be removed by a physician a dermatologist will have specialist knowledge in this area
pseudofolliculitis barbae
hidradenitis suppurativa
hidradenitis suppurativa hs also known as acne inversa is a chronic skin disease characterized by clusters of abscesses or subcutaneous boil like infections oftentimes free of actual bacteria that most commonly affects the underarms under the breasts inner thighs groin and buttocks outbreaks are painful and may persist for years with interspersed periods of inflammation often culminating in sudden drainage of pus this process often forms open wounds that will not heal and frequently leads to significant scarring
folliculitis
miliaria
miliaria ˌmɪl iˈɛər i ə also called sweat rash heat rash or prickly heat is a skin disease marked by small and itchy rashes miliaria is a common ailment in hot and humid conditions such as in the tropics and during the summer season although it affects people of all ages it is especially common in children and infants due to their underdeveloped sweat glands
ross syndrome
body odor
vitiligo
vitiligo is a long term skin condition characterized by patches of the skin losing their pigment the patches of skin affected become white and usually have sharp margins the hair from the skin may also become white inside the mouth and nose may also be involved typically both sides of the body are affected often the patches begin on areas of skin that are exposed to the sun it is more noticeable in people with dark skin vitiligo may result in psychological stress and those affected may be stigmatized
hypopigmentation
hypopigmentation is the loss of skin color it is caused by melanocyte or melanin depletion or a decrease in the amino acid tyrosine which is used by melanocytes to make melanin
freckle
café au lait spot
café au lait spots or café au lait macules are flat pigmented birthmarks the name café au lait is french for coffee with milk and refers to their light brown color they are also called giraffe spots or coast of maine spots they are caused by a collection of pigment producing melanocytes in the epidermis of the skin these spots are typically permanent and may grow or increase in number over time café au lait spots are often harmless but may be associated with syndromes such as neurofibromatosis type 1 and mccune albright syndrome
lentigo
a lentigo lɛnˈtaɪɡoʊ plural lentigines lɛnˈtɪdʒᵻniz is a small pigmented spot on the skin with a clearly defined edge surrounded by normal appearing skin it is a harmless benign hyperplasia of melanocytes which is linear in its spread this means the hyperplasia of melanocytes is restricted to the cell layer directly above the basement membrane of the epidermis where melanocytes normally reside this is in contrast to the nests of multi layer melanocytes found in moles melanocytic nevi because of this characteristic feature the adjective lentiginous is used to describe other skin lesions that similarly proliferate linearly within the basal cell layer
liver spot
liver spots also known as age spot solar lentigo lentigo senilis old age spot senile freckle are blemishes on the skin associated with aging and exposure to ultraviolet radiation from the sun they range in color from light brown to red or black and are located in areas most often exposed to the sun particularly the hands face shoulders arms and forehead and the scalp if bald
liver spots also known as age spot solar lentigo lentigo senilis old age spot senile freckle are blemishes on the skin associated with aging and exposure to ultraviolet radiation from the sun they range in color from light brown to red or black and are located in areas most often exposed to the sun particularly the hands face shoulders arms and forehead and the scalp if bald the spots derive their name from the fact that they were once incorrectly believed to be caused by liver problems but they are physiologically unrelated to the liver save for a similar color from the age of 40 onward the skin is less able to regenerate from sun exposure and liver spots are very common in this age group particularly in those who spend time in the sun in the overwhelming majority of cases liver spots pose no threat and require no treatment though they occasionally have been known to obscure the detection of skin cancer however despite being a benign condition liver spots are sometimes considered unsightly and some people choose to have them removed this can be done by electrosurgery laser treatment cryotherapy or the use of tretinoin or alpha hydroxy acids
dyschromia
seborrheic keratosis
a seborrheic keratosis also known as seborrheic verruca or a senile wart is a benign skin tumor that originates from keratinocytes like liver spots seborrheic keratoses are seen more often as people age
acanthosis nigricans
callus
a callus or callosity is a toughened area of skin which has become relatively thick and hard in response to repeated friction pressure or other irritation rubbing that is too frequent or forceful will cause blisters rather than allow calluses to form since repeated contact is required calluses are most often found on feet because of frequent walking calluses are generally not harmful but may sometimes lead to other problems such as skin ulceration or infection
paraneoplastic acrokeratosis
paraneoplastic acrokeratosis bazex syndrome also known as acrokeratosis paraneoplastica of bazex and acrokeratosis neoplastica is a cutaneous condition characterized by psoriasiform changes of hands feet ears and nose with involvement of the nails and periungual tissues being characteristic and indistinguishable from psoriatic nails the condition is associated with carcinomas of the upper aerodigestive tract this condition should not be confused with the other unrelated disease called bazex syndrome otherwise referred to as bazex dupre christol syndrome
palmoplantar keratoderma
palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles autosomal recessive and dominant x linked and acquired forms have all been described
hyperkeratosis
hyperkeratosis is thickening of the stratum corneum the outermost layer of the epidermis often associated with the presence of an abnormal quantity of keratin and also usually accompanied by an increase in the granular layer as the corneum layer normally varies greatly in thickness in different sites some experience is needed to assess minor degrees of hyperkeratosis it can be caused by vitamin a deficiency or chronic exposure to arsenic hyperkeratosis can also be caused by b raf inhibitor drugs such as vemurafenib and dabrafenib
pyoderma gangrenosum
pressure ulcer
pressure ulcers also known as pressure sores bedsores and decubitus ulcers are localized injuries to the skin and or underlying tissue that usually occur over a bony prominence as a result of pressure or pressure in combination with shear and or friction the most common sites are the skin overlying the sacrum coccyx heels or the hips but other sites such as the elbows knees ankles back of shoulders or the back of the cranium can be affected
lichen sclerosus
lichen sclerosus ls and also known as lichen sclerosus et atrophicus lseta also termed incorrectly lichen sclerosis et atrophicus is a disease of unknown cause that results in white patches on the skin which may cause scarring on and around genital or sometimes other skin there is a bimodal age distribution in the incidence of ls it occurs in females with an average age of diagnosis of 7 6 years in girls and 60 years old in women the average age of diagnosis in boys is 9 – 11 years old
lichen sclerosus ls and also known as lichen sclerosus et atrophicus lseta also termed incorrectly lichen sclerosis et atrophicus is a disease of unknown cause that results in white patches on the skin which may cause scarring on and around genital or sometimes other skin there is a bimodal age distribution in the incidence of ls it occurs in females with an average age of diagnosis of 7 6 years in girls and 60 years old in women the average age of diagnosis in boys is 9 – 11 years old several risk factors have been proposed including autoimmune diseases infections and genetic predisposition there is evidence that ls can be associated with thyroid disease
acrodermatitis chronica atrophicans
acrodermatitis chronica atrophicans aca also known as herxheimer disease and primary diffuse atrophy is a skin rash indicative of the third or late stage of european lyme borreliosis aca is a dermatological condition that takes a chronically progressive course and finally leads to a widespread atrophy of the skin involvement of the peripheral nervous system is often observed specifically polyneuropathy
scar
scars are areas of fibrous tissue fibrosis that replace normal skin after injury a scar results from the biological process of wound repair in the skin and other tissues of the body thus scarring is a natural part of the healing process with the exception of very minor lesions every wound e g after accident disease or surgery results in some degree of scarring an exception to this are animals with complete regeneration which regrow tissue without scar formation
scars are areas of fibrous tissue fibrosis that replace normal skin after injury a scar results from the biological process of wound repair in the skin and other tissues of the body thus scarring is a natural part of the healing process with the exception of very minor lesions every wound e g after accident disease or surgery results in some degree of scarring an exception to this are animals with complete regeneration which regrow tissue without scar formation scar tissue is composed of the same protein collagen as the tissue that it replaces but the fiber composition of the protein is different instead of a random basketweave formation of the collagen fibers found in normal tissue in fibrosis the collagen cross links and forms a pronounced alignment in a single direction this collagen scar tissue alignment is usually of inferior functional quality to the normal collagen randomised alignment for example scars in the skin are less resistant to ultraviolet radiation and sweat glands and hair follicles do not grow back within scar tissues a myocardial infarction commonly known as a heart attack causes scar formation in the heart muscle which leads to loss of muscular power and possibly heart failure however there are some tissues e g bone that can heal without any structural or functional deterioration
stretch marks
striae is also a general term referring to thin narrow grooves or channels or a thin line or band especially if several of them are parallel or close together stretch marks also known as striae are a form of scarring on the skin with an off color hue over time they may diminish but will not disappear completely stretch marks formed during pregnancy usually during the last trimester and usually on the belly but also commonly occurring on the breasts thighs hips lower back and buttocks are known as striae gravidarum
striae is also a general term referring to thin narrow grooves or channels or a thin line or band especially if several of them are parallel or close together stretch marks also known as striae are a form of scarring on the skin with an off color hue over time they may diminish but will not disappear completely stretch marks formed during pregnancy usually during the last trimester and usually on the belly but also commonly occurring on the breasts thighs hips lower back and buttocks are known as striae gravidarum stretch marks are caused by tearing of the dermis this is often from the rapid stretching of the skin associated with rapid growth or rapid weight changes stretch marks may also be influenced by hormonal changes associated with puberty pregnancy bodybuilding or hormone replacement therapy there is no evidence that creams used during pregnancy prevent stretch marks once they have formed there is no clearly useful treatment though various methods have been tried
keloid
keloid also keloidal scar is the formation of a type of scar which depending on its maturity is composed mainly of either type iii early or type i late collagen it is a result of an overgrowth of granulation tissue collagen type 3 at the site of a healed skin injury which is then slowly replaced by collagen type 1 keloids are firm rubbery lesions or shiny fibrous nodules and can vary from pink to the colour of the patient s flesh or red to dark brown in color a keloid scar is benign and not contagious but sometimes accompanied by severe itchiness pain and changes in texture in severe cases it can affect movement of skin keloid scars are seen 15 times more frequently in people of african descent than in people of european descent
granuloma
granuloma is an inflammation found in many diseases it is a collection of immune cells known as histiocytes macrophages granulomas form when the immune system attempts to wall off substances it perceives as foreign but is unable to eliminate such substances include infectious organisms including bacteria and fungi as well as other materials such as keratin and suture fragments
granuloma annulare
necrobiosis lipoidica
necrobiosis lipoidica is a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis in the former case it may be called necrobiosis lipoidica diabeticorum nld nld occurs in approximately 0 3 of the diabetic population with the majority of sufferers being women approximately 3 1 females to males affected
necrobiosis lipoidica is a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis in the former case it may be called necrobiosis lipoidica diabeticorum nld nld occurs in approximately 0 3 of the diabetic population with the majority of sufferers being women approximately 3 1 females to males affected the severity or control of diabetes in an individual does not affect who will or will not get nld better maintenance of diabetes after being diagnosed with nld will not change how quickly the nld will resolve
granuloma faciale
granuloma faciale gf is an uncommon benign chronic skin disease of unknown origin characterized by single or multiple cutaneous nodules usually occurring over the face occasionally extrafacial involvement is noted most often on sun exposed areas
foreign body granuloma
the foreign body granuloma is a response of biological tissue to any foreign material in the tissue tissue encapsulation of an implant is part of this an infection around a splinter is part of this too the presence of the implant changes the healing response and this is called the foreign body reaction fbr fbr consists of protein adsorption macrophages multinucleated foreign body giant cells macrophage fusion fibroblasts and angiogenesis it can be caused by beryllium
discoid lupus erythematosus
discoid lupus erythematosus dle is a chronic skin condition of sores with inflammation and scarring favoring the face ears and scalp and at times on other body areas these lesions develop as a red inflamed patch with a scaling and crusty appearance the center areas may appear lighter in color with a rim darker than the normal skin discoid lupus erythematosus can be divided into localized generalized and childhood discoid lupus erythematosus
scleroderma
scleroderma also known as systemic sclerosis is a long term autoimmune disease that results in hardening of the skin in the more severe form it also affects internal organs the cause is unknown the underlying mechanism involves the body s immune system attacking healthy tissues there is a strong associations with certain mutations in hla genes environmental factors have also been implicated
scleroderma also known as systemic sclerosis is a long term autoimmune disease that results in hardening of the skin in the more severe form it also affects internal organs the cause is unknown the underlying mechanism involves the body s immune system attacking healthy tissues there is a strong associations with certain mutations in hla genes environmental factors have also been implicated limited scleroderma involves mainly the skin of the hands arms and face it was previously called crest syndrome an acronym of the following common manifestations calcinosis the deposition of calcium nodules in the skin raynaud s phenomenon exaggerated vasoconstriction in the hands with fingers undergoing white blue red color transitions in the cold esophageal dysfunction leading to difficulty swallowing sclerodactyly skin thickening on the fingers and telangiectasias dilated capillaries on the face hands and mucous membranes diffuse scleroderma is rapidly progressing and affects a large area of the skin and one or more internal organs frequently the kidneys esophagus heart and or lungs this form of scleroderma can be quite disabling there are no treatments for scleroderma itself but individual organ system complications are treated outcomes are generally good for limited scleroderma of the skin when their are no lung complications they are worse for those with the diffuse skin disease particularly in older age and males death occurs most often from lung heart and kidney complications in diffuse cutaneous disease five year survival is 70 and 10 year survival is 55 scleroderma was first described in 1753 by carlo curzio of ospedale degli incurabili naples
livedoid vasculitis
livedoid vasculopathy also known as livedoid vasculitis livedo reticularis with summer winter ulceration and segmental hyalinizing vasculitis is a chronic cutaneous disease seen predominantly in young to middle aged women one synonym used to describe its features is painful purpuric ulcers with reticular pattern of the lower extremities purple it can be divided into a primary or idiopathic form and a secondary form which has been associated with a number of diseases including chronic venous hypertension and varicosities
malum perforans
malum perforans also known as neurotrophic ulcer and trophic ulcer is a long lasting usually painless ulcer that penetrates deep into or through the skin usually on the sole of the foot in which case it may be called malum perforans pedis it is often a complication in diabetes mellitus and other conditions affecting the nerves
pyogenic granuloma
excoriation disorder
excoriation disorder also known as dermatillomania skin picking disorder neurotic excoriation acne excoriee pathologic skin picking psp compulsive skin picking csp or psychogenic excoriation is a mental disorder characterized by the repeated urge to pick at one s own skin often to the extent that damage is caused
excoriation disorder also known as dermatillomania skin picking disorder neurotic excoriation acne excoriee pathologic skin picking psp compulsive skin picking csp or psychogenic excoriation is a mental disorder characterized by the repeated urge to pick at one s own skin often to the extent that damage is caused research has suggested that the urge to pick is similar to a body focused repetitive behavior but others have argued that for some the condition is more akin to a substance abuse disorder the two main strategies for treating this condition are pharmacological and behavioral intervention
neurotic excoriations
neurotic excoriations is a condition in which patients produce skin lesions through repetitive compulsive excoriation of their skin
febrile neutrophilic dermatosis
sweet s syndrome ss or acute febrile neutrophilic dermatosis is a skin disease characterized by the sudden onset of fever an elevated white blood cell count and tender red well demarcated papules and plaques that show dense infiltrates by neutrophil granulocytes on histologic examination the syndrome was first described in 1964 by robert douglas sweet it was also known as gomm button disease in honour of the first two patients sweet diagnosed with the condition
cutaneous lymphoid hyperplasia
cutaneous lymphoid hyperplasia also known as borrelial lymphocytoma lymphadenosis benigna cutis lymphocytoma cutis pseudolymphoma pseudolymphoma of spiegler and fendt sarcoidosis of spiegler and fendt spiegler – fendt lymphoid hyperplasia and spiegler – fendt sarcoid refers to a groups of benign cutaneous disorders characterized by collections of lymphocytes macrophages and dendritic cells in the skin conditions included in this groups are
cutaneous lymphoid hyperplasia also known as borrelial lymphocytoma lymphadenosis benigna cutis lymphocytoma cutis pseudolymphoma pseudolymphoma of spiegler and fendt sarcoidosis of spiegler and fendt spiegler – fendt lymphoid hyperplasia and spiegler – fendt sarcoid refers to a groups of benign cutaneous disorders characterized by collections of lymphocytes macrophages and dendritic cells in the skin conditions included in this groups are cutaneous lymphoid hyperplasia with nodular pattern a condition of the skin characterized by a solitary or localized cluster of asymptomatic erythematous to violaceous papules or nodules cutaneous lymphoid hyperplasia with bandlike and perivascular patterns a condition of the skin characterized by skin lesions that clinically resemble mycosis fungoides jessner lymphocytic infiltrate of the skin also known as benign lymphocytic infiltration of the skin jessner lymphocytic infiltration of the skin jessner – kanof lymphocytic infiltration of the skin and lymphocytic infiltrate of jessner is a cutaneous condition characterized by a persistent papular and plaque like skin eruption which can occur on the neck face and back and may re occur this is an uncommon skin disease and is a benign collection of lymph cells its cause is not known and can be hereditary it is named for max jessner it is thought to be equivalent to lupus erythematosus tumidus
hereditary mucoepithelial dysplasia
hereditary mucoepithelial dysplasia hmd or simply mucoepithelial dysplasia is a rare autosomal dominant multiepithelial disorder causing systemic maldevelopment of the epithelia and mucous membranes that line the surface of tissues and structures throughout the body particularly affecting systems affiliated with mucosa which includes the respiratory digestive urinary reproductive and immune systems the disorder is attributed to improper formation of desmosomes and gap junctions which prevents proper cornification of the epithelial layer of the skin
arthropathy
arthritis
arthritis is a term often used to mean any disorder that affects joints symptoms generally include joint pain and stiffness other symptoms may include redness warmth swelling and decreased range of motion of the affected joints in some types other organs are also affected onset can be gradual or sudden treatment may include resting the joint and alternating between applying ice and heat weight loss and exercise may also be useful pain medications such as ibuprofen and acetaminophen paracetamol may be used in some a joint replacement may be useful
arthritis is a term often used to mean any disorder that affects joints symptoms generally include joint pain and stiffness other symptoms may include redness warmth swelling and decreased range of motion of the affected joints in some types other organs are also affected onset can be gradual or sudden there are over 100 types of arthritis the most common forms are osteoarthritis degenerative joint disease and rheumatoid arthritis osteoarthritis usually occurs with age and affects the fingers knees and hips rheumatoid arthritis is an autoimmune disorder that often affects the hands and feet other types include gout lupus fibromyalgia and septic arthritis they are all types of rheumatic disease treatment may include resting the joint and alternating between applying ice and heat weight loss and exercise may also be useful pain medications such as ibuprofen and acetaminophen paracetamol may be used in some a joint replacement may be useful osteoarthritis affects more than 3 8 of people while rheumatoid arthritis affects about 0 24 of people gout affects about 1 to 2 of the western population at some point in their lives in australia and the united states more than 20 of people have a type of arthritis overall the disease becomes more common with age arthritis is a common reason that people miss work and can result in a decreased quality of life the term is from greek arthro meaning joint and itis meaning inflammation
reactive arthritis
reactive arthritis is classified as an autoimmune condition that develops in response to an infection in another part of the body cross reactivity coming into contact with bacteria and developing an infection can trigger the disease by the time the patient presents with symptoms often the trigger infection has been cured or is in remission in chronic cases thus making determination of the initial cause difficult
rheumatoid arthritis
rheumatoid arthritis ra is a long lasting autoimmune disorder that primarily affects joints it typically results in warm swollen and painful joints pain and stiffness often worsen following rest most commonly the wrist and hands are involved with the same joints typically involved on both sides of the body the disease may also affect other parts of the body this may result in a low red blood cell count inflammation around the lungs and inflammation around the heart fever and low energy may also be present often symptoms come on gradually over weeks to months
rheumatoid arthritis ra is a long lasting autoimmune disorder that primarily affects joints it typically results in warm swollen and painful joints pain and stiffness often worsen following rest most commonly the wrist and hands are involved with the same joints typically involved on both sides of the body the disease may also affect other parts of the body this may result in a low red blood cell count inflammation around the lungs and inflammation around the heart fever and low energy may also be present often symptoms come on gradually over weeks to months while the cause of rheumatoid arthritis is not clear it is believed to involve a combination of genetic and environmental factors the underlying mechanism involves the body s immune system attacking the joints this results in inflammation and thickening of the joint capsule it also affects the underlying bone and cartilage the diagnosis is made mostly on the basis of a person s signs and symptoms x rays and laboratory testing may support a diagnosis or exclude other diseases with similar symptoms other diseases that may present similarly include systemic lupus erythematosus psoriatic arthritis and fibromyalgia among others the goal of treatment is to reduce pain decrease inflammation and improve a person s overall functioning this may be helped by balancing rest and exercise the use of splints and braces or the use of assistive devices pain medications steroids and nsaids are frequently used to help with symptoms a group of medications called disease modifying antirheumatic drugs dmards may be used to try to slow the progression of disease they include the medications hydroxychloroquine and methotrexate biological dmards may be used when disease does not respond to other treatments however they may have a greater rate of adverse effects surgery to repair replace or fuse joints may help in certain situations most alternative medicine treatments are not supported by evidence ra affects between 0 5 and 1 of adults in the developed world with between 5 and 50 per 100 000 people newly developing the condition each year onset is most frequent during middle age and women are affected 2 5 times as frequently as men in 2013 it resulted in 38 000 deaths up from 28 000 deaths in 1990 the first recognized description of ra was made in 1800 by dr augustin jacob landré beauvais 1772 – 1840 of paris the term rheumatoid arthritis is based on the greek for watery and inflamed joints
felty s syndrome
felty s syndrome also called felty syndrome is characterized by the combination of rheumatoid arthritis splenomegaly and neutropenia the condition is more common in those aged 50 – 70 years and is more prevalent in females than males and more in caucasians than those of african descent it is a deforming but inactive disease and seropositive for rf
rheumatoid nodule
a rheumatoid nodule is a local swelling or tissue lump usually rather firm to touch like an unripe fruit which occurs almost exclusively in association with rheumatoid arthritis very rarely rheumatoid nodules occur as rheumatoid nodulosis in the absence of arthritis they are usually subcutaneous especially over bony prominences such as the olecranon tip of the elbow or the interphalangeal joints finger knuckles less commonly they occur in the lining of the lung and other internal organs the occurrence of nodules in the lung of miners exposed to silica dust was known as caplan s syndrome nodules vary in size from that of a lentil or pea to that of a mandarin orange quite often they are associated with synovial pockets or bursae about 5 of rheumatoid arthritis patients have su
juvenile idiopathic arthritis
juvenile idiopathic arthritis jia also known as juvenile rheumatoid arthritis jra is the most common form of arthritis in children and adolescents juvenile in this context refers to an onset before age 16 idiopathic refers to a condition with no defined cause and arthritis is the inflammation of the synovium of a joint jia affects approximately 1 in 1 000 children in any given year with about 1 in 10 000 having a more severe form
juvenile idiopathic arthritis jia also known as juvenile rheumatoid arthritis jra is the most common form of arthritis in children and adolescents juvenile in this context refers to an onset before age 16 idiopathic refers to a condition with no defined cause and arthritis is the inflammation of the synovium of a joint jia is an autoimmune non infective inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age the disease commonly occurs in children from the ages of 7 to 12 but it may occur in adolescents as old as 15 years of age as well as in infants it is a subset of arthritis seen in childhood which may be transient and self limited or chronic it differs significantly from arthritis commonly seen in adults osteoarthritis rheumatoid arthritis and other types of arthritis that can present in childhood which are chronic conditions e g psoriatic arthritis and ankylosing spondylitis aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion and joint instability and absent rheumatoid factor jia affects approximately 1 in 1 000 children in any given year with about 1 in 10 000 having a more severe form
ankylosing spondylitis
ankylosing spondylitis as is a type of arthritis in which there is long term inflammation of the joints of the spine typically where the spine joins the pelvis is also affected occasionally other joints such as the shoulders or hips are involved eye and bowel problems may also occur often the symptom of back pain comes and goes stiffness of the affected joints generally worsens over time
ankylosing spondylitis as is a type of arthritis in which there is long term inflammation of the joints of the spine typically where the spine joins the pelvis is also affected occasionally other joints such as the shoulders or hips are involved eye and bowel problems may also occur often the symptom of back pain comes and goes stiffness of the affected joints generally worsens over time the cause of ankylosing spondylitis is unknown however it is believed to involve a combination of genetic and environmental factors the underlying mechanism is believed to be autoimmune or autoinflammatory diagnosis is typically based on the symptoms with support from medical imaging and blood tests it is a type of seronegative spondyloarthropathies meaning that the person tests negative for the antibody called rheumatoid factor there is no cure for ankylosing spondylitis treatments can improve symptoms and possibly prevent worsening this may include medication exercise and surgery medications used include nsaids steroids disease modifying antirheumatic drugs such as methotrexate and biologic agents such as infliximab between 0 1 and 1 8 of people are affected onset is typically in young adults males are more often affected than females the condition was first fully described in the late 1600 s by bernard connor however skeletons with ankylosing spondylitis are found in egyptian mummies the word is from greek ankylos meaning stiffening of a joint spondylos meaning vertebra and itis meaning inflammation
chondrocalcinosis
kashin – beck disease
kashin – beck disease kbd is a chronic endemic type of osteochondropathy disease of the bone that is mainly distributed from northeastern to southwestern china involving 15 provinces tibet currently has the highest incidence rate of kbd in china southeast siberia and north korea are other affected areas kbd usually involves children ages 5 – 15 to date more than a million individuals have suffered from kbd the symptoms of kbd include joint pain morning stiffness in the joints disturbances of flexion and extension in the elbows enlarged inter phalangeal joints and limited motion in many joints of the body death of cartilage cells in the growth plate and articular surface is the basic pathologic feature this can result in growth retardation and secondary osteoarthrosis histolog
kashin – beck disease kbd is a chronic endemic type of osteochondropathy disease of the bone that is mainly distributed from northeastern to southwestern china involving 15 provinces tibet currently has the highest incidence rate of kbd in china southeast siberia and north korea are other affected areas kbd usually involves children ages 5 – 15 to date more than a million individuals have suffered from kbd the symptoms of kbd include joint pain morning stiffness in the joints disturbances of flexion and extension in the elbows enlarged inter phalangeal joints and limited motion in many joints of the body death of cartilage cells in the growth plate and articular surface is the basic pathologic feature this can result in growth retardation and secondary osteoarthrosis histological diagnosis of kbd is particularly difficult clinical and radiological examinations have proved to be the best means for identifying kbd little is known about the early stages of kbd before the visible appearance of the disease becomes evident in the destruction of the joints this disease has been recognized for over 150 years but its etiology has not yet been completely defined currently the accepted potential causes of kbd include mycotoxins present in grain trace mineral deficiency in nutrition and high levels of fulvic acid in drinking water selenium and iodine have been considered the most important deficiencies associated with kbd mycotoxins produced by fungi can contaminate grain which may cause kbd because mycotoxins cause the production of free radicals t 2 is the mycotoxin implicated with kbd produced by members of several fungal genera t 2 toxin can cause lesions in hematopoietic lymphoid gastrointestinal and cartilage tissues especially in physeal cartilage fulvic acid present in drinking water damages cartilage cells selenium supplementation in selenium deficient areas has been shown to prevent this disease however selenium supplementation in some areas showed no significant effect proving that deficiency of selenium may not be the dominant cause in kbd recently a significant association between snp rs 6910140 of col 9 a 1 and kashin – beck disease was discovered genetically suggesting a role of col 9 a 1 in the development of kashin – beck disease
pigmented villonodular synovitis
pigmented villonodular synovitis pvns is a joint disease characterized by inflammation and overgrowth of the joint lining it usually affects the hip or knee it can also occur in the shoulder ankle elbow hand or foot in pvns the lining of the joint called the synovium becomes swollen and grows this growth harms the bone next to the joint the lining also makes extra fluid that can cause swelling and make movement painful pvns is idiopathic it doesn t seem to run in families or be caused by certain jobs or activities surgery can help but even with treatment pvns comes back about half the time if the pain remains then radiation therapy may help in the worst cases the joint must be replaced
polyarthritis
polyarthritis is any type of arthritis that involves 5 or more joints simultaneously it is usually associated with autoimmune conditions and may be experienced at any age and is not sex specific
neuropathic arthropathy
neuropathic arthropathy or neuropathic osteoarthropathy also known as charcot joint often charcot foot refers to progressive degeneration of a weight bearing joint a process marked by bony destruction bone resorption and eventual deformity onset is usually insidious if this pathological process continues unchecked it can result in joint deformity ulceration and or superinfection loss of function and in the worst case scenario amputation or death early identification of joint changes is the best way to limit morbidity
osteoarthritis
osteoarthritis oa is a type of joint disease that results from breakdown of joint cartilage and underlying bone the most common symptoms are joint pain and stiffness initially symptoms may occur only following exercise but over time may become constant other symptoms may include joint swelling decreased range of motion and when the back is affected weakness or numbness of the arms and legs the most commonly involved joints are those near the ends of the fingers at the base of the thumb neck lower back knee and hips joints on one side of the body are often more affected than those on the other usually the symptoms come on over years it can affect work and normal daily activities unlike other types of arthritis only the joints are typically affected
osteoarthritis oa is a type of joint disease that results from breakdown of joint cartilage and underlying bone the most common symptoms are joint pain and stiffness initially symptoms may occur only following exercise but over time may become constant other symptoms may include joint swelling decreased range of motion and when the back is affected weakness or numbness of the arms and legs the most commonly involved joints are those near the ends of the fingers at the base of the thumb neck lower back knee and hips joints on one side of the body are often more affected than those on the other usually the symptoms come on over years it can affect work and normal daily activities unlike other types of arthritis only the joints are typically affected causes include previous joint injury abnormal joint or limb development and inherited factors risk is greater in those who are overweight have one leg of a different length and have jobs that result in high levels of joint stress osteoarthritis is believed to be caused by mechanical stress on the joint and low grade inflammatory processes it develops as cartilage is lost and the underlying bone becomes affected as pain may make it difficult to exercise muscle loss may occur diagnosis is typically based on signs and symptoms with medical imaging and other tests occasionally used to either support or rule out other problems in contrast to rheumatoid arthritis which is primarily an inflammatory condition in oa the joints do not typically become hot or red treatment includes exercise efforts to decrease joint stress support groups and pain medications efforts to decrease joint stress include resting and the use of a cane weight loss may help in those who are overweight pain medications may include paracetamol acetaminophen as well as nsaids such as naproxen or ibuprofen long term opioid use is generally discouraged due to lack of information on benefits as well as risks of addiction and other side effects if pain interferes with normal life despite other treatments joint replacement surgery may help an artificial joint typically lasts 10 to 15 years oa is the most common form of arthritis with disease of the knee and hip affecting about 3 8 of people as of 2010 among those over 60 years old about 10 of males and 18 of females are affected it is the cause of about 2 of years lived with disability in australia about 1 9 million people are affected and in the united states over 30 million people are affected it becomes more common in both sexes as people become older
bunion
a bunion is a deformity of the joint connecting the big toe to the foot it is characterized by medial deviation of the first metatarsal bone and lateral deviation of the hallux big toe often erroneously described as an enlargement of bone or tissue around the joint at the bottom of the big toe known as the metatarsophalangeal joint
hallux rigidus
hallux rigidus or stiff big toe is degenerative arthritis and stiffness due to bone spurs that affects the mtp joint at the base of the hallux big toe hallux flexus was initially described by davies colley in 1887 as a plantar flexed posture of phalanx relative to the metatarsal head about the same time cotterill first used the term hallux rigidus
hallux varus
hallux varus is a deformity of the great toe joint where the hallux is deviated medially towards the midline of the body away from the first metatarsal bone the hallux usually moves in the transverse plane unlike hallux valgus hallux varus is uncommon in the west but it is common in cultures where the population remains unshod
pigeon toe
valgus deformity
coxa valga
coxa valga is a deformity of the hip where the angle formed between the head and neck of the femur and its shaft is increased usually above 135 degrees it is caused by a slipped epiphysis of the femoral head the differential diagnosis includes neuromuscular disorders i e cerebral palsy spinal dysraphism poliomyelitis skeletal dysplasias and juvenile idiopathic arthritis
cubitus valgus
cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended a small degree of cubitus valgus known as the carrying angle is acceptable and occurs in the general population the opposite condition is cubitus varus 736 02
cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended a small degree of cubitus valgus known as the carrying angle is acceptable and occurs in the general population when present at birth it can be an indication of turner syndrome or noonan syndrome it can also be acquired through fracture or other trauma the physiological cubitus valgus varies from 3 ° to 29 ° women usually have a more pronounced cubitus valgus than men the deformity can also occur as a complication of fracture of the lateral condyle of the humerus which may lead to tardy delayed ulnar nerve palsy the opposite condition is cubitus varus 736 02
varus deformity
coxa vara
coxa vara is a deformity of the hip whereby the angle between the head and the shaft of the femur is reduced to less than 120 degrees this results in the leg being shortened and the development of a limp it is commonly caused by injury such as a fracture it can also occur when the bone tissue in the neck of the femur is softer than normal causing it to bend under the weight of the body this may either be congenital or the result of a bone disorder the most common cause of coxa vara is either congenital or developmental other common causes include metabolic bone diseases e g paget s disease of bone post perthes deformity osteomyelitis and post traumatic due to improper healing of a fracture between the greater and lesser trochanter shepherd s crook deformity is a severe f
flat feet
flat feet also called pes planus or fallen arches is a postural deformity in which the arches of the foot collapse with the entire sole of the foot coming into complete or near complete contact with the ground some individuals an estimated 20 – 30 of the general population have an arch that simply never develops in one foot unilaterally or both feet bilaterally
flat feet also called pes planus or fallen arches is a postural deformity in which the arches of the foot collapse with the entire sole of the foot coming into complete or near complete contact with the ground some individuals an estimated 20 – 30 of the general population have an arch that simply never develops in one foot unilaterally or both feet bilaterally there is a functional relationship between the structure of the arch of the foot and the biomechanics of the lower leg the arch provides an elastic springy connection between the forefoot and the hind foot this association safeguards so that a majority of the forces incurred during weight bearing of the foot can be dissipated before the force reaches the long bones of the leg and thigh in pes planus the head of the talus bone is displaced medially and distal from the navicular as a result the spring ligament and the tendon of the tibialis posterior muscle are stretched so much so that the individual with pes planus loses the function of the medial longitudinal arch mla if the mla is absent or nonfunctional in both the seated and standing positions the individual has “ rigid ” flatfoot if the mla is present and functional while the individual is sitting or standing up on their toes but this arch disappears when assuming a foot flat stance the individual has “ supple ” flatfoot this latter condition can be correctable with well fitting arch supports three studies see citations below in military section of military recruits have shown no evidence of later increased injury or foot problems due to flat feet in a population of people who reach military service age without prior foot problems however these studies cannot be used to judge possible future damage from this condition when diagnosed at younger ages they also cannot be applied to persons whose flat feet are associated with foot symptoms or certain symptoms in other parts of the body such as the leg or back possibly referable to the foot
club foot
club foot or clubfoot also called congenital talipes equinovarus ctev is a congenital deformity involving one foot or both the affected foot appears to have been rotated internally at the ankle without treatment people with club feet often appear to walk on their ankles or on the sides of their feet however with treatment the vast majority of patients recover completely during early childhood and are able to walk and participate in athletics just as well as patients born without ctev
club foot or clubfoot also called congenital talipes equinovarus ctev is a congenital deformity involving one foot or both the affected foot appears to have been rotated internally at the ankle without treatment people with club feet often appear to walk on their ankles or on the sides of their feet however with treatment the vast majority of patients recover completely during early childhood and are able to walk and participate in athletics just as well as patients born without ctev it is a relatively common birth defect occurring in about one in every 1 000 live births approximately half of people with clubfoot have it affect both feet which is called bilateral club foot in most cases it is an isolated disorder of the limbs it occurs in males twice as frequently as in females a condition of the same name appears in some non human animals particularly horses though in that particular case it is more akin to stepping en pointe than sideways
unequal leg length
genu recurvatum
genu recurvatum is a deformity in the knee joint so that the knee bends backwards in this deformity excessive extension occurs in the tibiofemoral joint genu recurvatum is also called knee hyperextension and back knee this deformity is more common in women and people with familial ligamentous laxity hyperextension of the knee may be mild moderate or severe
genu recurvatum is a deformity in the knee joint so that the knee bends backwards in this deformity excessive extension occurs in the tibiofemoral joint genu recurvatum is also called knee hyperextension and back knee this deformity is more common in women and people with familial ligamentous laxity hyperextension of the knee may be mild moderate or severe the normal range of motion rom of the knee joint is from 0 to 135 degrees in an adult full knee extension should be no more than 10 degrees in genu recurvatum back knee normal extension is increased the development of genu recurvatum may lead to knee pain and knee osteoarthritis
luxating patella
luxating patella or trick knee subluxation of patella floating patella or floating kneecap is a condition in which the patella or kneecap dislocates or moves out of its normal location patellar luxation is a common condition in dogs particularly small and miniature breeds the condition usually becomes evident between the ages of 4 to 6 months it can occur in cats as well especially the domestic shorthair it also occurs in humans where it can be associated with damage to the anterior cruciate ligament
chondromalacia patellae
chondromalacia patellae also known as cmp is inflammation of the underside of the patella and softening of the cartilage chondromalacia patellae is a term sometimes treated synonymously with patellofemoral pain syndrome however there is general consensus that patellofemoral pain syndrome is a term that applies only to individuals without cartilage damage thereby distinguishing it from chondromalacia patellae a condition characterized by softening of the patellar articular cartilage
contracture
a muscle contracture is a permanent shortening of a muscle or joint it is usually in response to prolonged hypertonic spasticity in a concentrated muscle area such as is seen in the tightest muscles of people with conditions like spastic cerebral palsy contractures can also be due to ischemia as in volkmann s contracture excessive matrix metalloproteinase and myofibroblast accumulation in the wound margins can result in contracture
ankylosis
ankylosis or anchylosis from greek ἀγκύλος bent crooked is a stiffness of a joint due to abnormal adhesion and rigidity of the bones of the joint which may be the result of injury or disease the rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself noma — a gangrenous disease still widespread among malnourished children living on the borders of the sahara desert — can cause ankylosis of the maxilla and mandible impairing the ability to speak and eat
protrusio acetabuli
protrusio acetabuli is an uncommon defect of the acetabulum the acetabulum is the socket that receives the femoral head to make the hip joint the hip bone of the pelvic bone girdle is composed of three bones the ilium the ischium and the pubis in protrusio deformity there is medial displacement of the femoral head in that the medial aspect of the femoral cortex is medial to the ilioischial line the socket is too deep and may protrude into the pelvis
hemarthrosis
hemarthrosis or haemarthrosis plural h a emarthroses is a bleeding into joint spaces it is a common feature of hemophilia the presence of it excludes the idiopathic thrombocytopenic purpura itp
arthralgia
arthralgia from greek arthro joint algos pain literally means joint pain it is a symptom of injury infection illnesses in particular arthritis or an allergic reaction to medication according to mesh the term arthralgia should only be used when the condition is non inflammatory and the term arthritis should be used when the condition is inflammatory
osteophyte
prognathism
polyarteritis nodosa
polyarteritis nodosa also known as panarteritis nodosa periarteritis nodosa kussmaul disease kussmaul maier disease or pan is a systemic vasculitis of small or medium sized muscular arteries typically involving renal and visceral vessels but sparing the pulmonary circulation polyarteritis nodosa may present in infants in polyarteritis nodosa small aneurysms are strung like the beads of a rosary therefore making rosary sign an important diagnostic feature of the vasculitis
eosinophilic granulomatosis with polyangiitis
eosinophilic granulomatosis with polyangiitis egpa also known as churg strauss syndrome css or allergic granulomatosis is a rare autoimmune condition that causes inflammation of small and medium sized blood vessels vasculitis in persons with a history of airway allergic hypersensitivity atopy effective treatment of egpa requires suppression of the immune system with medication this is typically glucocorticoids followed by other agents such as cyclophosphamide or azathioprine
kawasaki disease
kawasaki disease is a disease in which blood vessels throughout the body become inflamed the most common symptoms include a fever that lasts for more than five days and is not controlled by usual medications large lymph nodes in the neck a rash in the genital area and red eyes lips palms or bottoms of the feet other symptoms include sore throat and diarrhea within three weeks of the onset of symptoms the skin from the hands and feet may peel recovery then typically occurs in some children coronary artery aneurysms may form in the heart
cogan syndrome
cogan syndrome is a rare disorder characterized by recurrent inflammation of the front of the eye the cornea and often fever fatigue and weight loss episodes of dizziness and hearing loss it can lead to deafness or blindness if untreated the classic form of the disease was first described by d g cogan in 1945
sneddon s syndrome
goodpasture syndrome
goodpasture syndrome gps also known as goodpasture ’ s disease antiglomerular basement antibody disease or anti gbm disease is a rare autoimmune disease in which antibodies attack the basement membrane in lungs and kidneys leading to bleeding from the lungs and kidney failure it is thought to attack the alpha 3 subunit of type iv collagen which has therefore been referred to as goodpasture s antigen goodpasture syndrome may quickly result in permanent lung and kidney damage often leading to death it is treated with immunosuppressant drugs such as corticosteroids and cyclophosphamide and with plasmapheresis in which the antibodies are removed from the blood famous sufferers include vince earl an actor on the british soap opera brookside who underwent a successful kidney transp
goodpasture syndrome gps also known as goodpasture ’ s disease antiglomerular basement antibody disease or anti gbm disease is a rare autoimmune disease in which antibodies attack the basement membrane in lungs and kidneys leading to bleeding from the lungs and kidney failure it is thought to attack the alpha 3 subunit of type iv collagen which has therefore been referred to as goodpasture s antigen goodpasture syndrome may quickly result in permanent lung and kidney damage often leading to death it is treated with immunosuppressant drugs such as corticosteroids and cyclophosphamide and with plasmapheresis in which the antibodies are removed from the blood famous sufferers include vince earl an actor on the british soap opera brookside who underwent a successful kidney transplant in 2012 the disease was first described by an american pathologist ernest goodpasture of vanderbilt university in 1919 and was later named in his honor
upshaw – schulman syndrome
upshaw – schulman syndrome uss is the recessively inherited form of thrombotic thrombocytopenic purpura ttp a rare and complex blood coagulation disease uss is caused by the absence of the adamts 13 protease resulting in the persistence of unusually large von willebrand factor multimers ulvwf causing episodes of acute thrombotic microangiopathy with disseminated multiple small vessel obstructions these obstructions deprive downstream tissues from blood and oxygen which can result in tissue damage and death the presentation of an acute uss episode is variable but usually associated with thrombocytopenia microangiopathic hemolytic anemia maha with schistocytes on the peripheral blood smear fever and signs of ischemic organ damage in the brain kidney and heart
granulomatosis with polyangiitis
granulomatosis with polyangiitis gpa previously known as wegener s granulomatosis wg is a systemic disorder that involves both granulomatosis and polyangiitis it is a form of vasculitis inflammation of blood vessels that affects small and medium size vessels in many organs damage to the lungs and kidneys can be fatal it requires long term immunosuppression the condition was originally named for friedrich wegener who described the disease in 1936 as a response to wegener s association with the german nazi party professional bodies and journals have replaced his name with a descriptive name however the older name is still often seen
takayasu s arteritis
takayasu s disease also known as aortic arch syndrome nonspecific aortoarteritis and pulseless disease is a form of large vessel granulomatous vasculitis with massive intimal fibrosis and vascular narrowing most commonly affecting often young or middle age women of asian descent though anyone can be affected it mainly affects the aorta the main blood vessel leaving the heart and its branches as well as the pulmonary arteries females are about 8 – 9 times more likely to be affected than males
giant cell arteritis
giant cell arteritis gca also called temporal arteritis cranial arteritis or horton disease is an inflammatory disease of blood vessels most commonly involving large and medium arteries of the head predominantly the branches of the external carotid artery the most serious complication is occlusion of the ophthalmic artery which is a branch of the internal carotid it can create a medical emergency which can cause irreversible ischemia and blindness if not treated promptly gca is treated with glucocorticoids steroids which reduce the inflammation and prevent occlusion no other drugs are effective or contribute to the effect of glucocorticoids
giant cell arteritis gca also called temporal arteritis cranial arteritis or horton disease is an inflammatory disease of blood vessels most commonly involving large and medium arteries of the head predominantly the branches of the external carotid artery the most serious complication is occlusion of the ophthalmic artery which is a branch of the internal carotid it can create a medical emergency which can cause irreversible ischemia and blindness if not treated promptly gca is treated with glucocorticoids steroids which reduce the inflammation and prevent occlusion no other drugs are effective or contribute to the effect of glucocorticoids gca is a form of vasculitis it typically causes inflammation of the network of small vessels vasa vasorum that supplies the larger arteries gca affects arteries of the head and neck including the three arteries that branch out from the arch of the ascending aorta and their branches — the thoracic aorta the axillary arteries the vertebral arteries and further on in the head in the ophthalmic and external carotid arteries the temporal and occipital arteries it can cause occlusion of the arteries and ischemia gca is diagnosed with biopsy of the temporal artery while the clinical presentation patient characteristics and blood test markers of inflammation can raise suspicion only a temporal artery biopsy can give definite diagnosis some cases may not involve the temporal artery and distinguishing between a false negative and the absence of gca is difficult the terms giant cell arteritis and temporal arteritis are sometimes used interchangeably because of the frequent involvement of the temporal artery however it can involve other large vessels such as the aorta in giant cell aortitis giant cell arteritis of the temporal artery is referred to as temporal arteritis and is also known as cranial arteritis and horton s disease the name giant cell arteritis reflects the type of inflammatory cell involved as seen on a biopsy
microscopic polyangiitis
microscopic polyangiitis is an ill defined autoimmune disease characterized by a systemic pauci immune necrotizing small vessel vasculitis without clinical or pathological evidence of necrotizing granulomatous inflammation
systemic lupus erythematosus
systemic lupus erythematosus sle also known simply as lupus is an autoimmune disease in which the body ’ s immune system mistakenly attacks healthy tissue in many parts of the body symptoms vary between people and may be mild to severe common symptoms include painful and swollen joints fever chest pain hair loss mouth ulcers swollen lymph nodes feeling tired and a red rash which is most commonly on the face often there are periods of illness called flares and periods of remission when there are few symptoms
systemic lupus erythematosus sle also known simply as lupus is an autoimmune disease in which the body ’ s immune system mistakenly attacks healthy tissue in many parts of the body symptoms vary between people and may be mild to severe common symptoms include painful and swollen joints fever chest pain hair loss mouth ulcers swollen lymph nodes feeling tired and a red rash which is most commonly on the face often there are periods of illness called flares and periods of remission when there are few symptoms the cause is not entirely clear it is believed to involve hormonal environmental and genetic factors among identical twins if one is affected there is a 24 chance the other one will be as well female sex hormones sunlight smoking vitamin d deficiency and certain infections are also believed to increase the risk the mechanism involves an immune response by autoantibodies against a person s own tissues these are most commonly anti nuclear antibodies and they result in inflammation diagnosis can be difficult and is based on a combination of symptoms and laboratory tests there are a number of other kinds of lupus erythematosus including discoid lupus erythematosus neonatal lupus and subacute cutaneous lupus erythematosus there is no cure for sle treatments may include nsaids corticosteroids immunosuppressants hydroxychloroquine and methotrexate alternative medicine has not been shown to affect the disease life expectancy is lower among people with sle sle significantly increases the risk of cardiovascular disease with this being the most common cause of death with modern treatment about 80 of those affected survive more than 15 years women with lupus have pregnancies that are higher risk but are mostly successful rates of disease vary between countries from 20 to 70 per 100 000 women of childbearing age are affected about nine times more often than men while it most commonly begins between the ages of 15 and 45 a wide range of ages can be affected those of african caribbean and chinese descent are at higher risk than white people rates of disease in the developing world are unclear lupus is latin for wolf as in the 18 th century it was thought to be caused by a wolf s bite
dermatomyositis
polymyositis
polymyositis pm inflammation of many muscles is a type of chronic inflammation of the muscles inflammatory myopathy related to dermatomyositis and inclusion body myositis the inflammation is predominantly of the endomysium in polymyositis whereas dermatomyositis is characterized by primarily perimysial inflammation
crest syndrome
sjögren s syndrome
sjögren s syndrome sjs ss is a long term autoimmune disease in which the moisture producing glands of the body are affected this results primarily in the development of a dry mouth and dry eyes other symptoms can include dry skin a chronic cough vaginal dryness numbness in the arms and legs feeling tired muscle and joint pains and thyroid problems those affected are at an increased risk 5 of lymphoma
mixed connective tissue disease
in medicine mixed connective tissue disease also known as sharp s syndrome commonly abbreviated as mctd is an autoimmune disease in which the body s defense system attacks itself it was characterized in 1972 and the term was introduced by leroy in 1980 it is sometimes said to be the same as undifferentiated connective tissue disease but other experts specifically reject this idea because undifferentiated connective tissue disease is not necessarily associated with serum antibodies directed against the u 1 rnp and mctd is associated with a more clearly defined set of signs symptoms
behçet s disease
behçet s disease is a rare immune mediated small vessel systemic vasculitis that often presents with mucous membrane ulceration and ocular problems the disease was named in 1937 after the turkish dermatologist hulusi behçet who first described the triple symptom complex of recurrent oral aphthous ulcers genital ulcers and uveitis – a disease of the eye as a systemic disease it can also involve visceral organs such as the gastrointestinal tract pulmonary musculoskeletal cardiovascular and neurological systems this syndrome can be fatal due to ruptured vascular aneurysms or severe neurological complications
polymyalgia rheumatica
polymyalgia rheumatica pmr is a syndrome with pain or stiffness usually in the neck shoulders upper arms and hips but which may occur all over the body the pain can be very sudden or can occur gradually over a period most people with pmr wake up in the morning with pain in their muscles however cases have occurred in which the person has developed the pain during the evenings or has pain and stiffness all day long people who have polymyalgia rheumatica may also have temporal arteritis an inflammation of blood vessels in the face which can cause blindness if not treated quickly the pain and stiffness can result in a lowered quality of life and can lead to depression
nephrogenic systemic fibrosis
nephrogenic systemic fibrosis nsf or nephrogenic fibrosing dermopathy nfd is a rare and serious syndrome that involves fibrosis of skin joints eyes and internal organs the first cases were identified in 1997 and its cause is not fully understood however evidence suggests nsf is associated with exposure to gadolinium with gadolinium based mri contrast agents being frequently used as contrast agents for magnetic resonance imaging mri in patients with severe kidney failure epidemiological studies suggest that the incidence of nsf is unrelated to gender race or age and it is not thought to have a genetic basis a registry for nsf has identified about 335 cases as of 2011
hypermobility joints
toxic oil syndrome
toxic oil syndrome or simply toxic syndrome spanish síndrome del aceite tóxico or síndrome tóxico is a musculoskeletal disease most famous for a 1981 outbreak in spain which killed over 600 people and was likely caused by contaminated colza oil its first appearance was as a lung disease with unusual features though the symptoms initially resembled a lung infection antibiotics were ineffective the disease appeared to be restricted to certain geographical localities and several members of a family could be affected even while their neighbours had no symptoms following the acute phase a range of other chronic symptoms was apparent
kyphosis
kyphosis from greek κυφός kyphos a hump refers to the abnormally excessive convex kyphotic curvature of the spine as it occurs in the cervical thoracic and sacral regions normal inward concave curving of the cervical and lumbar regions of the spine is called lordosis kyphosis can be called roundback or kelso s hunchback it can result from degenerative diseases such as arthritis developmental problems most commonly scheuermann s disease osteoporosis with compression fractures of the vertebra multiple myeloma or trauma a normal thoracic spine extends from the 1 st to the 12 th vertebra and should have a slight kyphotic angle ranging from 20 ° to 45 ° when the roundness of the upper spine increases past 45 ° it is called kyphosis or hyperkyphosis scheuermann s kyphosis is the
kyphosis from greek κυφός kyphos a hump refers to the abnormally excessive convex kyphotic curvature of the spine as it occurs in the cervical thoracic and sacral regions normal inward concave curving of the cervical and lumbar regions of the spine is called lordosis kyphosis can be called roundback or kelso s hunchback it can result from degenerative diseases such as arthritis developmental problems most commonly scheuermann s disease osteoporosis with compression fractures of the vertebra multiple myeloma or trauma a normal thoracic spine extends from the 1 st to the 12 th vertebra and should have a slight kyphotic angle ranging from 20 ° to 45 ° when the roundness of the upper spine increases past 45 ° it is called kyphosis or hyperkyphosis scheuermann s kyphosis is the most classic form of hyperkyphosis and is the result of wedged vertebrae that develop during adolescence the cause is not currently known and the condition appears to be multifactorial and is seen more frequently in males than females in the sense of a deformity it is the pathological curving of the spine where parts of the spinal column lose some or all of their lordotic profile this causes a bowing of the back seen as a slouching posture while most cases of kyphosis are mild and only require routine monitoring serious cases can be debilitating high degrees of kyphosis can cause severe pain and discomfort breathing and digestion difficulties cardiovascular irregularities neurological compromise and in the more severe cases significantly shortened life spans these types of high end curves typically do not respond well to conservative treatment and almost always warrant spinal fusion surgery which can restore the body s natural degree of curvature the cobb angle is the preferred method of measuring kyphosis
lordosis
the term lordosis refers to the normal inward lordotic curvature of the lumbar and cervical regions of the spine excessive curvature of the lower back is known as lumbar hyperlordosis commonly called hollow back or saddle back after a similar condition that affects some horses a major feature of lumbar hyperlordosis is a forward pelvic tilt resulting in the pelvis resting on top of the thighs curvature in the opposite convex direction in the thoracic and sacral regions is termed kyphotic when this curvature is excessive it is called kyphosis or hyperkyphosis
spondyloarthropathy
spondyloarthropathy or spondyloarthrosis refers to any joint disease of the vertebral column as such it is a class or category of diseases rather than a single specific entity it differs from spondylopathy which is a disease of the vertebra itself however many conditions involve both spondylopathy and spondyloarthropathy
spondyloarthropathy or spondyloarthrosis refers to any joint disease of the vertebral column as such it is a class or category of diseases rather than a single specific entity it differs from spondylopathy which is a disease of the vertebra itself however many conditions involve both spondylopathy and spondyloarthropathy spondyloarthropathy with inflammation is called ankylosing spondylitis in the broadest sense the term spondyloarthropathy includes joint involvement of vertebral column from any type of joint disease including rheumatoid arthritis and osteoarthritis but the term is often used for a specific group of disorders with certain common features the group often being termed specifically seronegative spondylarthropathies they have an increased incidence of hla b 27 as well as negative rheumatoid factor and ana enthesopathy is also sometimes present in association with seronegative spondarthritides non vertebral signs and symptoms of degenerative or other not directly infected inflamation in the manner of spondyloarthropathies include asymmetric peripheral arthritis which is distinct from rheumatoid arthritis arthritis of the toe interphalangeal joints sausage digits achilles tendinitis plantar fasciitis costochondritis iritis and mucocutaneous lesions however lower back pain is the most common clinical presentation of the causes of spondyloarthropoathies this back pain is unique because it decreases with activity
scoliosis
scoliosis is a medical condition in which a person s spine has a sideways curve the curve is usually s or c shaped in some the degree of curve is stable while in others it increases over time mild scoliosis does not typically cause problems while severe cases can interfere with breathing pain is typically not present scoliosis occurs in about 3 of people it most commonly occurs between the ages of ten and twenty girls typically are more severely affected than boys the term is from ancient greek σκολίωσις skoliosis which means a bending
osteochondrosis
scheuermann s disease
scheuermann s disease is considered to be a form of juvenile osteochondrosis of the spine it is found mostly in teenagers and presents a significantly worse deformity than postural kyphosis patients suffering with scheuermann ’ s kyphosis cannot consciously correct their posture the apex of their curve located in the thoracic vertebrae is quite rigid
scheuermann s disease is considered to be a form of juvenile osteochondrosis of the spine it is found mostly in teenagers and presents a significantly worse deformity than postural kyphosis patients suffering with scheuermann ’ s kyphosis cannot consciously correct their posture the apex of their curve located in the thoracic vertebrae is quite rigid scheuermann s disease is notorious for causing lower and mid level back and neck pain which can be severe and disabling the sufferer may feel pain at the apex of the curve which is aggravated by physical activity and by periods of standing or sitting this can have a significantly detrimental effect to their lives as their level of activity is curbed by their disability the sufferer may feel isolated or uneasy amongst their peers if they are children depending on the level of deformity in addition to the pain associated with scheuermann s disease many sufferers of the disorder have loss of vertebral height and depending on where the apex of the curve is may have a visual hunchback or roundback it has been reported that curves in the lower thoracic region cause more pain whereas curves in the upper region present a more visual deformity nevertheless it is typically pain or cosmetic reasons that prompt sufferers to seek help for their condition in studies kyphosis is better characterized for the thoracic spine than for the lumbar spine the seventh and tenth thoracic vertebrae are most commonly affected it causes backache and spinal curvature in very serious cases it may cause internal problems and spinal cord damage but these cases are extremely rare the curvature of the back decreases height thus putting pressure on internal organs wearing them out more quickly than the natural aging process surgical procedures are almost always recommended in this case
spondylolysis
spondylolysis spon dee low lye sis is defined as a defect or stress fracture in the pars interarticularis of the vertebral arch the vast majority of cases occur in the lower lumbar vertebrae l 5 but spondylolysis may also occur in the cervical vertebrae
spondylolisthesis
spondylolisthesis is the forward displacement of a vertebral bone in relation to the natural curve of the spine most commonly occurring after a fracture and most often the fifth lumbar vertebra backward displacement is referred to as retrolisthesis when occurring in conjunction with scoliosis the shortened term olisthesis may sometimes be used instead
spondylolisthesis is the forward displacement of a vertebral bone in relation to the natural curve of the spine most commonly occurring after a fracture and most often the fifth lumbar vertebra backward displacement is referred to as retrolisthesis when occurring in conjunction with scoliosis the shortened term olisthesis may sometimes be used instead a hangman s fracture is a specific type of spondylolisthesis where the second cervical vertebra c 2 is displaced anteriorly relative to the c 3 vertebra due to fractures of the c 2 vertebra s pedicles this is the cause of death in hanging
torticollis
torticollis also known as wry neck or loxia is a dystonic condition defined by an abnormal asymmetrical head or neck position which may be due to a variety of causes the term torticollis is derived from the latin words tortus for twisted and collum for neck
sacroiliitis
in medicine sacroiliitis is an inflammation of the sacroiliac joint sacroiliitis is a feature of spondylarthropathies such as ankylosing spondylitis psoriatic arthritis reactive arthritis or arthritis related to inflammatory bowel diseases including ulcerative colitis or crohn s disease it is also the most common presentation of arthritis from brucellosis
discitis
discitis or diskitis is an infection in the intervertebral disc space that affects different age groups in adults it can lead to severe consequences such as sepsis or epidural abscess but can also spontaneously resolve especially in children under 8 years of age discitis occurs post surgically in approximately 1 2 percent of patients after spinal surgery
spondylosis
spondylosis from ancient greek σπόνδυλος spóndylos a vertebra in plural vertebrae – the backbone is a broad term meaning degeneration of the spinal column from any cause in the more narrow sense it refers to spinal osteoarthritis the age related wear and tear of the spinal column which is the most common cause of spondylosis the degenerative process in osteoarthritis chiefly affects the vertebral bodies the neural foramina and the facet joints facet syndrome if severe it may cause pressure on nerve roots with subsequent sensory or motor disturbances such as pain paresthesia and muscle weakness in the limbs
spondylosis from ancient greek σπόνδυλος spóndylos a vertebra in plural vertebrae – the backbone is a broad term meaning degeneration of the spinal column from any cause in the more narrow sense it refers to spinal osteoarthritis the age related wear and tear of the spinal column which is the most common cause of spondylosis the degenerative process in osteoarthritis chiefly affects the vertebral bodies the neural foramina and the facet joints facet syndrome if severe it may cause pressure on nerve roots with subsequent sensory or motor disturbances such as pain paresthesia and muscle weakness in the limbs when the space between two adjacent vertebrae narrows compression of a nerve root emerging from the spinal cord may result in radiculopathy sensory and motor disturbances such as severe pain in the neck shoulder arm back or leg accompanied by muscle weakness less commonly direct pressure on the spinal cord typically in the cervical spine may result in myelopathy characterized by global weakness gait dysfunction loss of balance and loss of bowel or bladder control the patient may experience shocks paresthesia in hands and legs because of nerve compression and lack of blood flow if vertebrae of the neck are involved it is labelled cervical spondylosis lower back spondylosis is labeled lumbar spondylosis
diffuse idiopathic skeletal hyperostosis
diffuse idiopathic skeletal hyperostosis dish is a non inflammatory spondyloarthropathy of the spine it is characterized by spiny ankylosis and enthesopathy ossification of the ligaments and entheses it most commonly affects the thoracic and thoraco lumbar spine but involvement is variable and can include the entire spine the disc spaces facet and sacroiliac joints remain unaffected diagnosis requires confluent ossification of at least four contiguous vertebral bodies classically advanced disease may have melted candle wax appearance along the spine on radiographic studies
diffuse idiopathic skeletal hyperostosis dish is a non inflammatory spondyloarthropathy of the spine it is characterized by spiny ankylosis and enthesopathy ossification of the ligaments and entheses it most commonly affects the thoracic and thoraco lumbar spine but involvement is variable and can include the entire spine the disc spaces facet and sacroiliac joints remain unaffected diagnosis requires confluent ossification of at least four contiguous vertebral bodies classically advanced disease may have melted candle wax appearance along the spine on radiographic studies the calcification and ossification is most common on the right side of the spine in people with dextrocardia and situs inversus this calcification occurs on the left side which confirms the role of the descending thoracic aorta in preventing the physical manifestations of dish on one side of the spine
baastrup s sign
baastrup s sign or kissing spine is an orthopedic and radiographic disorder that often occurs in elderly humans it is characterized by enlargement of the posterior spinous projections of the lumbar spine with normal intervertebral disc height and neuroforamina the reason it is referred to as kissing spine is because the posterior spinous processes kiss and touch one another as the individual goes into lumbar extension for example when flat on their stomach the condition has been seen in humans canines particularly with boxer breeds and certain breeds of horses this disorder is named after christian ingerslev baastrup
spinal disc herniation
spinal disc herniation also known as a slipped disc is a medical condition affecting the spine in which a tear in the outer fibrous ring of an intervertebral disc allows the soft central portion to bulge out beyond the damaged outer rings disc herniation is usually due to age related degeneration of the anulus fibrosus although trauma lifting injuries or straining have been implicated tears are almost always postero lateral in nature owing to the presence of the posterior longitudinal ligament in the spinal canal this tear in the disc ring may result in the release of inflammatory chemical mediators which may directly cause severe pain even in the absence of nerve root compression
spinal disc herniation also known as a slipped disc is a medical condition affecting the spine in which a tear in the outer fibrous ring of an intervertebral disc allows the soft central portion to bulge out beyond the damaged outer rings disc herniation is usually due to age related degeneration of the anulus fibrosus although trauma lifting injuries or straining have been implicated tears are almost always postero lateral in nature owing to the presence of the posterior longitudinal ligament in the spinal canal this tear in the disc ring may result in the release of inflammatory chemical mediators which may directly cause severe pain even in the absence of nerve root compression disc herniations are normally a further development of a previously existing disc protrusion a condition in which the outermost layers of the fibrous ring are still intact but can bulge when the disc is under pressure in contrast to a herniation none of the central portion escapes beyond the outer layers most minor herniations heal within several weeks anti inflammatory treatments for pain associated with disc herniation protrusion bulge or disc tear are generally effective severe herniations may not heal of their own accord and may require surgery the condition is widely referred to as a slipped disc but this term is not medically accurate as the spinal discs are firmly attached between the vertebrae and cannot slip out of place
schmorl s nodes
coccydynia
neutral spine
a neutral spine or good posture refers to the three natural curves that are present in a healthy spine looking directly at the front or back of the body the 33 vertebrae in the spinal column should appear completely vertical from a side view the cervical neck region of the spine c 1 c 7 is bent inward the thoracic upper back region t 1 t 12 bends outward and the lumbar lower back region l 1 l 5 bends inward the sacrum tailbone area s 1 s 5 fused and coccyx on average 4 fused rest between the pelvic bones a neutral pelvis indicates the anterior superior iliac spines and pubic symphysis fall in the same vertical line
back pain
back pain is pain felt in the back episodes of back pain may be acute sub acute or chronic depending on the duration the pain may be characterized as a dull ache shooting or piercing pain or a burning sensation the pain may radiate into the arms and hands as well as the legs or feet and may include paresthesia tingling with no apparent cause weakness or numbness in the legs and arms the anatomic classification of back pain follows the segments of the spine neck pain cervical middle back pain thoracic lower back pain lumbar or coccydynia tailbone or sacral pain with the lumbar vertebrae area most common for pain
myositis
pyomyositis
pyomyositis also known as tropical pyomyositis or myositis tropicans is a bacterial infection of the skeletal muscles which results in a pus filled abscess pyomyositis is most common in tropical areas but can also occur in temperate zones
inclusion body myositis
inclusion body myositis ibm is an inflammatory muscle disease characterized by slowly progressive weakness and wasting of both distal and proximal muscles most apparent in the muscles of the arms and legs there are two types sporadic inclusion body myositis sibm which is more common and hereditary inclusion body myopathy hibm
fibrodysplasia ossificans progressiva
fibrodysplasia ossificans progressiva fop is an extremely rare connective tissue disease the disease is caused by a mutation of the body s repair mechanism which causes fibrous tissue including muscle tendon and ligament to be ossified spontaneously or when damaged in many cases injuries can cause joints to become permanently frozen in place surgical removal of the extra bone growths has been shown to cause the body to repair the affected area with even more bone
diastasis recti
diastasis recti also known as abdominal separation is commonly defined as a gap of roughly 2 7 cm or greater between the two sides of the rectus abdominis muscle this condition has no associated morbidity or mortality the distance between the right and left rectus abdominis muscles is created by the stretching of the linea alba a connective collagen sheath created by the aponeurosis insertions of the transverse abdominis internal oblique and external oblique diastasis of this muscle occurs principally in two populations newborns and pregnant women it is also known to occur in men
compartment syndrome
compartment syndrome is increased pressure within one of the body s compartments which contains muscles and nerves compartment syndrome most commonly occurs in compartments in the leg or arm there are two main types of compartment syndrome acute and chronic
compartment syndrome is increased pressure within one of the body s compartments which contains muscles and nerves compartment syndrome most commonly occurs in compartments in the leg or arm there are two main types of compartment syndrome acute and chronic acute compartment syndrome occurs after a traumatic injury such as a car crash the trauma causes a severe high pressure in the compartment which results in insufficient blood supply to muscles and nerves acute compartment syndrome is a medical emergency that requires surgery to correct if untreated the lack of blood supply leads to permanent muscle and nerve damage and can result in the loss of function of the limb chronic exertional compartment syndrome is an exercise induced condition in which the pressure in the muscles increases to extreme levels during exercise the pressure creates a decrease in blood flow to the affected area which leads to a deprivation of oxygen to the muscles the symptoms are a sensation of extreme tightness in the affected muscles followed by a burning sensation if exercise is continued chronic exertional compartment syndrome usually occurs in athletes who participate in repetitive impact sports such as running
muscle atrophy
muscle atrophy is defined as a decrease in the mass of the muscle it can be a partial or complete wasting away of muscle and is most commonly experienced when persons suffer temporary disabling circumstances such as being restricted in movement and or confined to bed as when hospitalized when a muscle atrophies this leads to muscle weakness since the ability to exert force is related to mass modern medicine s understanding of the quick onset of muscle atrophy is a major factor behind the practice of getting hospitalized patients out of bed and moving about as active as possible as soon as is feasible despite sutures wounds broken bones and pain
muscle atrophy is defined as a decrease in the mass of the muscle it can be a partial or complete wasting away of muscle and is most commonly experienced when persons suffer temporary disabling circumstances such as being restricted in movement and or confined to bed as when hospitalized when a muscle atrophies this leads to muscle weakness since the ability to exert force is related to mass modern medicine s understanding of the quick onset of muscle atrophy is a major factor behind the practice of getting hospitalized patients out of bed and moving about as active as possible as soon as is feasible despite sutures wounds broken bones and pain muscle atrophy results from a co morbidity of several common diseases including cancer aids congestive heart failure copd chronic obstructive pulmonary disease renal failure and severe burns patients who have cachexia in these disease settings have a poor prognosis moreover starvation eventually leads to muscle atrophy disuse of the muscles such as when muscle tissue is immobilized for even a few days of unuse – when the patient has a primary injury such as an immobilized broken bone set in a cast or immobilized in traction for example – will also lead rapidly to disuse atrophy minimizing such occurrences as soon as possible is a primary mission of occupational and physical therapists employed within hospitals working in co ordination with orthopedic surgeons neurogenic atrophy which has a similar effect is muscle atrophy resulting from damage to the nerve which stimulates the muscle causing a shriveling around otherwise healthy limbs also time in a circa zero g environment without exercise will lead to atrophy this is partially due to the smaller amount of exertion needed to move about and the fact that muscles are not used to maintain posture in a similar effect patients with a broken leg joint undergoing as little as three weeks of traction can lose enough back and buttocks muscle mass and strength as to have difficulty sitting without assistance and experience pain stress and burning even after a very short ten minute exposure when such positioning is contrived during recovery
strain injury
this is about an injury of a muscle for a novel see the strain for other uses see strain disambiguation a strain is an injury to a muscle in which the muscle fibers tear as a result of overstretching a strain is also colloquially known as a pulled muscle or torn muscle the equivalent injury to a ligament is a sprain
charley horse
charley horse is a popular colloquial term in canada and the united states for painful involuntary spasms or cramps in the leg muscles typically lasting anywhere from a few seconds to about a day it is less likely to refer to a bruise on an arm or leg and a bruising of the quadriceps muscle of the anterior or lateral thigh or contusion of the femur that commonly results in a haematoma and sometimes several weeks of pain and disability in this latter sense such an injury is known as dead leg in australia it is also known as a corked thigh or corky it often occurs in contact sports such as football when an athlete suffers a knee blunt trauma to the lateral quadriceps causing a haematoma or temporary paresis and antalgic gait as a result of pain another term jolly horse is used
charley horse is a popular colloquial term in canada and the united states for painful involuntary spasms or cramps in the leg muscles typically lasting anywhere from a few seconds to about a day it is less likely to refer to a bruise on an arm or leg and a bruising of the quadriceps muscle of the anterior or lateral thigh or contusion of the femur that commonly results in a haematoma and sometimes several weeks of pain and disability in this latter sense such an injury is known as dead leg in australia it is also known as a corked thigh or corky it often occurs in contact sports such as football when an athlete suffers a knee blunt trauma to the lateral quadriceps causing a haematoma or temporary paresis and antalgic gait as a result of pain another term jolly horse is used to describe simple painful muscle cramps in the leg or foot especially those that follow strenuous exercise the term can also be used to refer to cramps in the foot muscles these muscle cramps can have many possible causes directly resulting from high or low ph or substrate concentrations in the blood including hormonal imbalances dehydration low levels of magnesium potassium or calcium although the evidence has been mixed side effects of medication or more seriously diseases such as amyotrophic lateral sclerosis and neuropathy they are also a common complaint during pregnancy
rhabdomyolysis
rhabdomyolysis is a condition in which damaged skeletal muscle breaks down rapidly symptoms may include muscle pains weakness vomiting and confusion there may be tea colored urine or an irregular heartbeat some of breakdown products such as the protein myoglobin are harmful to the kidneys and may lead to kidney failure
synovitis
synovitis is the medical term for inflammation of the synovial membrane this membrane lines joints which possess cavities known as synovial joints the condition is usually painful particularly when the joint is moved the joint usually swells due to synovial fluid collection
calcific tendinitis
trigger finger
transient synovitis
transient synovitis of the hip also called toxic synovitis see below for more synonyms is a self limiting condition in which there is an inflammation of the inner lining the synovium of the capsule of the hip joint the term irritable hip refers to the syndrome of acute hip pain joint stiffness limp or non weightbearing indicative of an underlying condition such as transient synovitis or orthopedic infections like septic arthritis or osteomyelitis in everyday clinical practice however irritable hip is commonly used as a synonym for transient synovitis it should not be confused with sciatica a condition describing hip and lower back pain much more common to adults than transient synovitis but with similar signs and symptoms
ganglion cyst
a ganglion cyst is a soft tissue lump that may occur in any joint but most often occurs on around or near joints and tendons in the hands or feet these cysts are caused by leakage of fluid from the joint into the surrounding tissue
tendinosis
repetitive strain injury
repetitive strain injury rsi and associative trauma orders are umbrella terms used to refer to several discrete conditions that can be associated with repetitive tasks forceful exertions vibrations mechanical compression or sustained awkward positions examples of conditions that may sometimes be attributed to such causes include edema tendinosis or less often tendinitis carpal tunnel syndrome cubital tunnel syndrome de quervain syndrome thoracic outlet syndrome intersection syndrome golfer s elbow medial epicondylitis tennis elbow lateral epicondylitis trigger finger so called stenosing tenosynovitis radial tunnel syndrome and focal dystonia
repetitive strain injury rsi and associative trauma orders are umbrella terms used to refer to several discrete conditions that can be associated with repetitive tasks forceful exertions vibrations mechanical compression or sustained awkward positions examples of conditions that may sometimes be attributed to such causes include edema tendinosis or less often tendinitis carpal tunnel syndrome cubital tunnel syndrome de quervain syndrome thoracic outlet syndrome intersection syndrome golfer s elbow medial epicondylitis tennis elbow lateral epicondylitis trigger finger so called stenosing tenosynovitis radial tunnel syndrome and focal dystonia since the 1970 s there has been a worldwide increase in rsis of the arms hands neck and shoulder attributed to the widespread use of typewriters computers in the workplace that require long periods of repetitive motions in a fixed posture
bursitis
bursitis is the inflammation of one or more bursae small sacs of synovial fluid in the body they are lined with a synovial membrane that secretes a lubricating synovial fluid there are more than 150 bursae in the human body the bursae rest at the points where internal functionaries such as muscles and tendons slide across bone healthy bursae create a smooth almost frictionless functional gliding surface making normal movement painless when bursitis occurs however movement relying on the inflamed bursa becomes difficult and painful moreover movement of tendons and muscles over the inflamed bursa aggravates its inflammation perpetuating the problem muscle can also be stiffened
baker s cyst
dupuytren s contracture
dupuytren s contracture also known as dupuytren s disease or by the slang term viking disease is a flexion contracture of the hand due to a palmar fibromatosis in which the fingers bend towards the palm and cannot be fully extended straightened it is an inherited proliferative connective tissue disorder that involves the hand s palmar fascia it is named after baron guillaume dupuytren the surgeon who described an operation to correct the affliction
plantar fasciitis
plantar fasciitis is a disorder that results in pain in the heel and bottom of the foot the pain is usually most severe with the first steps of the day or following a period of rest pain is also frequently brought on by bending the foot and toes up towards the shin and may be worsened by a tight achilles tendon the condition typically comes on slowly in about a third of people both legs are affected typically there are no fevers or night sweats
plantar fasciitis is a disorder that results in pain in the heel and bottom of the foot the pain is usually most severe with the first steps of the day or following a period of rest pain is also frequently brought on by bending the foot and toes up towards the shin and may be worsened by a tight achilles tendon the condition typically comes on slowly in about a third of people both legs are affected typically there are no fevers or night sweats the causes of plantar fasciitis are not entirely clear risk factors include overuse such as from long periods of standing an increase in exercise and obesity it is also associated with inward rolling of the foot and a lifestyle that involves little exercise while heel spurs are frequently found it is unclear if they have a role in causing the condition plantar fasciitis is a disorder of the insertion site of the ligament on the bone characterized by micro tears breakdown of collagen and scarring as inflammation plays a lesser role many feel the condition should be renamed plantar fasciosis the diagnosis is typically based on signs and symptoms with ultrasound sometimes used to help other conditions with similar symptoms include osteoarthritis ankylosing spondylitis heel pad syndrome and reactive arthritis most cases of plantar fasciitis resolve with time and conservative methods of treatment usually for the first few weeks people are advised to rest change their activities take pain medications and stretch if this is not sufficient physiotherapy orthotics splinting or steroid injections may be options if other measures do not work extracorporeal shockwave therapy or surgery may be tried between 4 and 7 of people have heel pain at any given time and about 80 of these cases are due to plantar fasciitis approximately 10 of people have the disorder at some point during their life it becomes more common with age it is unclear if one sex is more affected than the other
plantar fibromatosis
plantar fascial fibromatosis also known as ledderhose s disease morbus ledderhose and plantar fibromatosis is a relatively uncommon non malignant thickening of the feet s deep connective tissue or fascia in the beginning where nodules or cords start growing along tendons of the foot the disease is minor eventually however the cords thicken the toes stiffen and bend and walking becomes painful the disease is named after dr georg ledderhose a german surgeon who described the condition for the first time in 1894 a similar disease is dupuytren s disease which affects the hand and causes bent hand or fingers
plantar fascial fibromatosis also known as ledderhose s disease morbus ledderhose and plantar fibromatosis is a relatively uncommon non malignant thickening of the feet s deep connective tissue or fascia in the beginning where nodules or cords start growing along tendons of the foot the disease is minor eventually however the cords thicken the toes stiffen and bend and walking becomes painful the disease is named after dr georg ledderhose a german surgeon who described the condition for the first time in 1894 a similar disease is dupuytren s disease which affects the hand and causes bent hand or fingers as in most forms of fibromatosis it is usually benign and its onset varies with each patient the nodules are typically slow growing and most often found in the central and medial portions of the plantar fascia occasionally the nodules may lie dormant for months to years only to begin rapid and unexpected growth options for intervention include radiation therapy cryosurgery xiaflex surgical removal only if discomfort hinders walking
nodular fasciitis
nodular fasciitis also known as nodular pseudosarcomatous fasciits pseudosarcomatous fasciitis and subcutaneous pseudosarcomatous fibromatosis is a benign soft tissue lesion most commonly found in the superficial fascia the lesion commonly occurs in the first three decades of life upper extremities and trunk are the most common affected anatomical sites previous history of trauma may be present clinically and histologically nodular fasciitis may be mistaken for a sarcoma
necrotizing fasciitis
necrotising fasciitis nf commonly known as flesh eating disease is an infection that results in the death of the body s soft tissue it is a severe disease of sudden onset that spreads rapidly symptoms include red or purple skin in the affected area severe pain fever and vomiting the most commonly affected areas are the limbs and perineum
necrotising fasciitis nf commonly known as flesh eating disease is an infection that results in the death of the body s soft tissue it is a severe disease of sudden onset that spreads rapidly symptoms include red or purple skin in the affected area severe pain fever and vomiting the most commonly affected areas are the limbs and perineum typically the infection enters the body through a break in the skin such as a cut or burn risk factors include poor immune function such as from diabetes or cancer obesity alcoholism intravenous drug use and peripheral vascular disease it is not typically spread between people the disease is classified into four types depending on the infecting organism between 55 80 of cases involve more than one type of bacteria methicillin resistant staphylococcus aureus mrsa is involved in up to a third of cases medical imaging is helpful to confirm the diagnosis prevention is by good wound care and handwashing it is usually treated with surgery to remove the infected tissue and intravenous antibiotics often a combination of antibiotics are used such as penicillin g clindamycin vancomycin and gentamicin delays in surgery are associated with a higher risk of death despite high quality treatment the risk of death is between 25 and 35 necrotizing fasciitis affects 0 4 to 1 person per 100 000 per year both sexes are affected equally it becomes more common among older people and is very rare in children necrotizing fasciitis has been described at least since the time of hippocrates the term necrotising fasciitis first came into use in 1952
fibromatosis
the term fibromatosis refers to a group of benign soft tissue tumors which have certain characteristics in common including absence of cytologic and clinical malignant features a histology consistent with proliferation of well differentiated fibroblasts an infiltrative growth pattern and aggressive clinical behavior with frequent local recurrence
adhesive capsulitis of shoulder
adhesive capsulitis also known as frozen shoulder is a painful and disabling disorder of unclear cause in which the shoulder capsule the connective tissue surrounding the glenohumeral joint of the shoulder becomes inflamed and stiff greatly restricting motion and causing chronic pain pain is usually constant worse at night and with cold weather certain movements or bumps can provoke episodes of tremendous pain and cramping the condition is thought to be caused by injury or trauma to the area and may have an autoimmune component
rotator cuff tear
a rotator cuff tear is a tear of one or more of the tendons of the four rotator cuff muscles of the shoulder a rotator cuff injury can include any type of irritation or overuse of those muscles or tendons and is among the most common conditions affecting the shoulder the tendons of the rotator cuff not the muscles are most commonly involved and of the four the supraspinatus is most frequently affected as it passes below the acromion such a tear usually occurs at its point of insertion onto the humeral head at the greater tubercle
impingement syndrome
subacromial bursitis
enthesopathy
in medicine an enthesopathy refers to a disorder involving the attachment of a tendon or ligament to a bone this site of attachment is known as the entheses if the condition is known to be inflammatory it can more precisely be called an enthesitis
snapping hip syndrome
snapping hip syndrome also referred to as coxa saltans iliopsoas tendinitis or dancer s hip is a medical condition characterized by a snapping sensation felt when the hip is flexed and extended this may be accompanied by an audible snapping or popping noise and pain or discomfort pain often decreases with rest and diminished activity snapping hip syndrome is classified by location of the snapping either extra articular or intra articular
iliotibial band syndrome
iliotibial band syndrome itbs or itbfs for iliotibial band friction syndrome is a common injury to the knee generally associated with running cycling hiking or weight lifting especially squats
patellar tendinitis
tennis elbow
tennis elbow or lateral epicondylitis is a condition in which the outer part of the elbow becomes sore and tender the forearm muscles and tendons become damaged from overuse — repeating the same strenuous motions again and again this leads to pain and tenderness on the outside of the elbow
tennis elbow or lateral epicondylitis is a condition in which the outer part of the elbow becomes sore and tender the forearm muscles and tendons become damaged from overuse — repeating the same strenuous motions again and again this leads to pain and tenderness on the outside of the elbow any activity including playing tennis which involves the repetitive use of the extensor muscles of the forearm can cause acute or chronic tendonitis of the tendinous insertion of these muscles at the lateral epicondyle of the elbow the condition is common in carpenters and laborers who swing a hammer or other tool with the forearm continuing activity after onset of the condition and avoiding mandatory rest may lead to permanent onset of pain and only treatable via surgery dr f runge a german physician is usually credited for the first description of the condition in 1873 he called it writer s cramp schreibekrampf later it was called washer women s elbow as it also occurred in tennis it soon was called tennis elbow after british surgeon henry morris published an article in the lancet describing “ the lawn tennis arm ” 1883 the term tennis elbow first appeared in an 1883 paper by h p major as lawn tennis elbow
calcaneal spur
a calcaneal spur or heel spur is a small osteophyte bone spur located on the calcaneus heel bone calcaneal spurs are typically detected by a radiological examination x ray when a foot bone is exposed to constant stress calcium deposits build up on the bottom of the heel bone generally this has no effect on a person s daily life however repeated damage can cause these deposits to pile up on each other causing a spur shaped deformity called a calcaneal or heel spur obese people flatfooted people and people who often wear high heeled shoes are most susceptible to heel spurs
metatarsalgia
metatarsalgia literally metatarsal pain and colloquially known as a stone bruise is a general term used to refer to any painful foot condition affecting the metatarsal region of the foot this is a common problem that can affect the joints and bones of the metatarsals
metatarsalgia literally metatarsal pain and colloquially known as a stone bruise is a general term used to refer to any painful foot condition affecting the metatarsal region of the foot this is a common problem that can affect the joints and bones of the metatarsals metatarsalgia is most often localized to the first metatarsal head – the ball of the foot just behind the big toe there are two small sesamoid bones under the first metatarsal head the next most frequent site of metatarsal head pain is under the second metatarsal this can be due to either too short a first metatarsal bone or to hypermobility of the first ray – metatarsal bone and medial cuneiform bone behind it – both of which result in excess pressure being transmitted into the second metatarsal head
tendinitis
tendinitis also tendonitis meaning inflammation of a tendon is a type of tendinopathy often confused with the more common tendinosis which has similar symptoms but requires different treatment the suffix itis denotes diseases characterized by inflammation the term tendinitis should be reserved for tendon injuries that involve larger scale acute injuries accompanied by inflammation generally tendinitis is referred to by the body part involved such as achilles tendinitis affecting the achilles tendon or patellar tendinitis jumper s knee affecting the patellar tendon
rheumatism
rheumatism or rheumatic disorder is an umbrella term for conditions causing chronic often intermittent pain affecting the joints and or connective tissue the study of and therapeutic interventions in such disorders is called rheumatology the term rheumatism however does not designate any specific disorder but covers at least 200 different conditions
rheumatism or rheumatic disorder is an umbrella term for conditions causing chronic often intermittent pain affecting the joints and or connective tissue the study of and therapeutic interventions in such disorders is called rheumatology the term rheumatism however does not designate any specific disorder but covers at least 200 different conditions sources dealing with rheumatism tend to focus on arthritis but rheumatism may also refer to other conditions causing chronic pain grouped as non articular rheumatism also known as regional pain syndrome or soft tissue rheumatism the term rheumatic diseases is used in mesh to refer to connective tissue disorders
myofascial pain syndrome
myofascial pain syndrome mps also known as chronic myofascial pain cmp is a syndrome characterized by chronic pain in multiple myofascial trigger points knots and fascial connective tissue constrictions it can appear in any body part characteristic features of a myofascial trigger points include focal point tenderness reproduction of pain upon trigger point palpation hardening of the muscle upon trigger point palpation pseudo weakness of the involved muscle referred pain and limited range of motion following approximately 5 seconds of sustained trigger point pressure
neuralgia
neuralgia greek neuron nerve algos pain is pain in the distribution of a nerve or nerves as in intercostal neuralgia trigeminal neuralgia and glossopharyngeal neuralgia
panniculitis
fibromyalgia
fibromyalgia fm is a medical condition characterised by chronic widespread pain and a heightened pain response to pressure other symptoms include feeling tired to a degree that normal activities are affected sleep problems and troubles with memory some people also report restless legs syndrome bowel or bladder problems numbness and tingling and sensitivity to noise lights or temperature fibromyalgia is frequently associated with depression anxiety and posttraumatic stress disorder other types of chronic pain are also frequently present
fibromyalgia fm is a medical condition characterised by chronic widespread pain and a heightened pain response to pressure other symptoms include feeling tired to a degree that normal activities are affected sleep problems and troubles with memory some people also report restless legs syndrome bowel or bladder problems numbness and tingling and sensitivity to noise lights or temperature fibromyalgia is frequently associated with depression anxiety and posttraumatic stress disorder other types of chronic pain are also frequently present the cause of fibromyalgia is unknown but believed to involve a combination of genetic and environmental factors with half the risk attributed to each the condition runs in families and many genes are believed to be involved environmental factors may include psychological stress trauma and certain infections the pain appears to result from processes in the central nervous system and the condition is referred to as a central sensitization syndrome fibromyalgia is recognized as a disorder by the us national institutes of health and the american college of rheumatology there is no specific diagnostic test diagnosis involves first ruling out other potential causes and verifying that a set number of symptoms are present the treatment of fibromyalgia can be difficult recommendations often include getting enough sleep exercising regularly and eating a healthy diet cognitive behavioral therapy may also be helpful the medications duloxetine milnacipran or pregabalin may be used use of opioid pain medication is controversial with some stating their use is poorly supported by evidence and others saying that weak opioids may be reasonable if other medications are not effective dietary supplements also lack evidence to support their use while fibromyalgia can last a long time it does not result in death or tissue damage fibromyalgia is estimated to affect 2 – 8 of the population females are affected about twice as often as males rates appear similar in different areas of the world and among different cultures fibromyalgia was first defined in 1990 with updated criteria in 2011 there is controversy about the classification diagnosis and treatment of fibromyalgia while some feel the diagnosis of fibromyalgia may negatively affect a person other research finds it to be beneficial the term fibromyalgia is from new latin fibro meaning fibrous tissues greek μυώ myo muscle and greek άλγος algos pain thus the term literally means muscle and connective tissue pain
hematoma
a hematoma is a localized collection of blood outside the blood vessels usually in liquid form within the tissue an ecchymosis commonly although erroneously called a bruise is a hematoma of the skin larger than 10 mm it is not to be confused with hemangioma which is an abnormal buildup of blood vessels in the skin or internal organs
osteoporosis
osteoporosis is a disease where decreased bone strength increases the risk of a broken bone it is the most common reason for a broken bone among the elderly bones that commonly break include the back bones the bones of the forearm and the hip until a broken bone occurs there are typically no symptoms bones may weaken to such a degree that a break may occur with minor stress or spontaneously chronic pain and a decreased ability to carry out normal activities may occur following a broken bone
osteoporosis is a disease where decreased bone strength increases the risk of a broken bone it is the most common reason for a broken bone among the elderly bones that commonly break include the back bones the bones of the forearm and the hip until a broken bone occurs there are typically no symptoms bones may weaken to such a degree that a break may occur with minor stress or spontaneously chronic pain and a decreased ability to carry out normal activities may occur following a broken bone osteoporosis may be due to lower than normal peak bone mass and greater than normal bone loss bone loss increases after menopause due to lower levels of estrogen osteoporosis may also occur due to a number of diseases or treatments including alcoholism anorexia hyperthyroidism surgical removal of the ovaries and kidney disease certain medications increase the rate of bone loss including some antiseizure medications chemotherapy proton pump inhibitors selective serotonin reuptake inhibitors and steroids not enough exercise and smoking are also risk factors osteoporosis is defined as a bone density of 2 5 standard deviations below that of a young adult this is typically measured by dual energy x ray absorptiometry at the hip prevention of osteoporosis includes a proper diet during childhood and efforts to avoid medications that cause the condition efforts to prevent broken bones in those with osteoporosis include a good diet exercise and fall prevention lifestyle changes such as stopping smoking and not drinking alcohol may help medication of the bisphosphonate type are useful in those with previous broken bones due to osteoporosis in those with osteoporosis but no previous broken bones they are less effective a number of other medications may also be useful osteoporosis becomes more common with age about 15 of white people in their 50 s and 70 of those over 80 are affected it is more common in women than men in the developed world depending on the method of diagnosis 2 to 8 of males and 9 to 38 of females are affected rates of disease in the developing world are unclear about 22 million women and 5 5 million men in the european union had osteoporosis in 2010 in the united states in 2010 about eight million women and one to two million men had osteoporosis white and asian people are at greater risk the word osteoporosis is from the greek terms for porous bones
osteomalacia
osteomalacia is the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate calcium and vitamin d or because of resorption of calcium the impairment of bone metabolism causes inadequate bone remineralization osteomalacia in children is known as rickets and because of this use of the term osteomalacia is often restricted to the milder adult form of the disease signs and symptoms can include diffuse body pains muscle weakness and fragility of the bones
pseudarthrosis
pseudarthrosis commonly referred to as a nonunion or false joint is a bone fracture that has no chance of mending without intervention in pseudarthrosis the body perceives bone fragments as separate bones and does not attempt to unite them often this is the result of inadequate healing after the fracture though it can also be the result of a developmental failure in the u s fda guidelines allow a period of 9 months for fracture union after which intervention is considered to facilitate union
melorheostosis
melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution the condition begins in childhood and is characterized by thickening of the bones pain is a frequent symptom and the bone can have the appearance of dripping candle wax
hyperostosis
hyperostosis is an excessive growth of bone it may lead to exostosis it occurs in many musculoskeletal disorders
osteopenia
osteosclerosis
osteosclerosis is a type of osteopetrosis that involves abnormal hardening of bone and an elevation in bone density it can be a pathology normally detected on a radiograph as an area of increased opacity that is where more mineral is present in the bone to absorb or deflect the x ray beam localized osteosclerosis can be caused by injuries that compress the bone by osteoarthritis and osteoma it is associated with it can also be associated with hepatitis c sclerosis of the bones of the thoracic spine due to prostate cancer metastases ct image
osteomyelitis
osteomyelitis om is infection and inflammation of the bone and bone marrow it can be usefully subclassified on the basis of the causative organism pyogenic bacteria or mycobacteria and the route duration and anatomic location of the infection osteomyelitis usually begins as an acute infection but it may evolve into a chronic condition the word is from greek words ὀστέον osteon meaning bone μυελό myelo meaning marrow and ῖτις itis meaning inflammation
chronic recurrent multifocal osteomyelitis
chronic recurrent multifocal osteomyelitis crmo multifocal because it can erupt in different sites primarily bones osteomyelitis because it is very similar to that disease but appears to be without any infection also known as chronic recurring multifocal osteomyelitis is a rare condition 1 1 000 000 in which the bones have lesions inflammation and pain its definition is evolving many doctors and articles described crmo as an autoimmune disease that has symptoms similar to osteomyelitis but without the infection some doctors thought crmo was related to sapho syndrome cutting edge research now classifies crmo as an inherited autoinflammatory disease but have yet to isolate the exact gene responsible for it some specialists believe they have discovered a link between cr
avascular necrosis
paget s disease of bone
paget s disease of bone also termed ambiguously just paget s disease paget s is caused by the excessive breakdown and formation of bone followed by disorganized bone remodeling this causes affected bone to weaken resulting in pain misshapen bones fractures and arthritis in the joints near the affected bones rarely it can develop into a primary bone cancer known as paget s sarcoma often paget s disease is localized to only a few bones in the body the pelvis femur and lower lumbar vertebrae are the most commonly affected bones paget s disease typically is localized affecting just one or a few bones as opposed to osteoporosis for example which usually affects all the bones in the body
paget s disease of bone also termed ambiguously just paget s disease paget s is caused by the excessive breakdown and formation of bone followed by disorganized bone remodeling this causes affected bone to weaken resulting in pain misshapen bones fractures and arthritis in the joints near the affected bones rarely it can develop into a primary bone cancer known as paget s sarcoma often paget s disease is localized to only a few bones in the body the pelvis femur and lower lumbar vertebrae are the most commonly affected bones paget s disease typically is localized affecting just one or a few bones as opposed to osteoporosis for example which usually affects all the bones in the body a later phase of the disease is characterized by the replacement of normal bone marrow with highly vascular fibrous tissue because early diagnosis and treatment is important after age 40 siblings and children of someone with paget s disease should have an alkaline phosphatase blood test every two or three years if the alkaline phosphatase level is above normal other tests such as a bone specific alkaline phosphatase test bone scan or x ray can be performed decisions about treating paget s disease may be complicated as the disease often affects people differently in addition to this it is sometimes difficult to predict whether a person with paget s disease who shows no signs or symptoms of the disorder will develop symptoms or complications such as a bone fracture in the future although there is no cure for paget s disease medications bisphosphonates and calcitonin can help control the disorder and lessen pain and other symptoms medications are often successful in controlling the disorder especially when started before complications begin paget s disease affects from 1 5 to 8 0 percent of the population depending on age and country of residence paget s disease is rare in people less than 55 years of age men are more commonly affected than women 3 2 the disease is named after sir james paget
complex regional pain syndrome
complex regional pain syndrome crps also known as reflex sympathetic dystrophy rsd is a long term condition that often worsens with time it is characterized by severe pain and sensitivity swelling and changes in the skin it may initially affect one limb and then spread throughout the body 35 of people report symptoms throughout their whole body treatment is complicated involving medications physical and occupational therapy psychological treatments and neuromodulation and is often unsatisfactory especially if delayed
complex regional pain syndrome crps also known as reflex sympathetic dystrophy rsd is a long term condition that often worsens with time it is characterized by severe pain and sensitivity swelling and changes in the skin it may initially affect one limb and then spread throughout the body 35 of people report symptoms throughout their whole body the cause of crps is unknown though crps is associated with dysregulation of the central nervous system and autonomic nervous system resulting in multiple functional loss impairment and disability precipitating factors include injury and surgery although there are cases where no injury had occurred at the original site crps is not caused by psychological factors yet the constant pain and reduced quality of life has been known to cause psychological problems such as increased depression and anxiety although research does not reveal support for specific personality or psychopathology predictors of the condition crps is associated with psychosocial effects including impaired social and occupational function it is classified as an amplified musculoskeletal pain syndrome treatment is complicated involving medications physical and occupational therapy psychological treatments and neuromodulation and is often unsatisfactory especially if delayed
hypertrophic osteoarthropathy
hypertrophic osteoarthropathy also known as hypertrophic pulmonary osteoarthropathy bamberger marie syndrome or osteoarthropathia hypertrophicans is a medical condition combining clubbing and periostitis of the small hand joints especially the distal interphalangeal joints distal expansion of the long bones as well as painful swollen joints and synovial villous proliferation are often seen the condition may occur alone primary or it may be secondary to diseases like lung cancer it is especially associated with non small cell lung carcinoma these patients often get clubbing and increased bone deposition on long bones their presenting symptoms are sometimes only clubbing and painful ankles
osteolysis
osteolysis is an active resorption of bone matrix by osteoclasts and can be interpreted as the reverse of ossification although osteoclasts are active during the natural formation of healthy bone the term osteolysis specifically refers to a pathological process osteolysis often occurs in the proximity of a prosthesis that causes either an immunological response or changes in the bone s structural load osteolysis may also be caused by pathologies like bone tumors cysts or chronic inflammation
infantile cortical hyperostosis
nonossifying fibroma
a nonossifying fibroma also called fibroxanthoma is a fibrous bone lesion that is usually asymptomatic and discovered as an incidental finding on x ray it is the most common benign bone tumor in children and adolescents however it is controversial whether it represents a true neoplasm or rather a developmental disorder of growing bone radiographically the tumor presents as a well marginated radiolucent lesion with a distinct multilocular appearance these foci consist of collagen rich connective tissue fibroblasts histiocytes and osteoclasts they originate from the growth plate and are located in adjacent parts of the metaphysis and diaphysis of long bones most often of the legs no treatment is needed in asymptomatic patients and spontaneous remission with replacement by bone
a nonossifying fibroma also called fibroxanthoma is a fibrous bone lesion that is usually asymptomatic and discovered as an incidental finding on x ray it is the most common benign bone tumor in children and adolescents however it is controversial whether it represents a true neoplasm or rather a developmental disorder of growing bone radiographically the tumor presents as a well marginated radiolucent lesion with a distinct multilocular appearance these foci consist of collagen rich connective tissue fibroblasts histiocytes and osteoclasts they originate from the growth plate and are located in adjacent parts of the metaphysis and diaphysis of long bones most often of the legs no treatment is needed in asymptomatic patients and spontaneous remission with replacement by bone tissue is to be expected multiple nonossifying fibromas occur in jaffe campanacci syndrome in combination with cafe au lait spots mental retardation hypogonadism ocular and cardiovascular abnormalities
periostitis
chondropathy
in medicine chondropathy refers to a disease of the cartilage it is frequently divided into 5 grades with 0 2 defined as normal and 3 4 defined as diseased
legg – calvé – perthes disease
legg – calvé – perthes disease lcpd is a childhood hip disorder initiated by a disruption of blood flow to the ball of the femur called the femoral head due to the lack of blood flow the bone dies osteonecrosis or avascular necrosis and stops growing over time healing occurs by new blood vessels infiltrating the dead bone and removing the necrotic bone which leads to a loss of bone mass and a weakening of the femoral head the bone loss leads to some degree of collapse and deformity of the femoral head and sometimes secondary changes to the shape of the hip socket it is also referred to as idiopathic avascular osteonecrosis of the capital femoral epiphysis of the femoral head since the cause of the interruption of the blood supply of the head of the femur in the hip joint is unknown
blount s disease
osgood – schlatter disease
osgood – schlatter disease osd also known as apophysitis of the tibial tubercle or lannelongue s disease is an inflammation of the patellar ligament at the tibial tuberosity it is characterized by a painful bump just below the knee and is most often seen in young adolescents risk factors include overuse especially in sports involving running jumping and quick changes of direction and adolescent growth spurts
osgood – schlatter disease osd also known as apophysitis of the tibial tubercle or lannelongue s disease is an inflammation of the patellar ligament at the tibial tuberosity it is characterized by a painful bump just below the knee and is most often seen in young adolescents risk factors include overuse especially in sports involving running jumping and quick changes of direction and adolescent growth spurts the condition is named after robert bayley osgood 1873 – 1956 an american orthopedic surgeon and carl b schlatter 1864 – 1934 a swiss surgeon who described the condition independently in 1903
köhler disease
köhler disease also spelled kohler and referred to in some texts as kohler disease ii is a rare bone disorder of the foot found in children between six and nine years of age the disease typically affects boys but it can also affect girls it was first described in 1908 by alban köhler 1874 – 1947 a german radiologist in february 2010 the journal of the american medical association reported that the 19 year old king tutankhamun may well have died of complications from malaria combined with köhler disease ii
freiberg disease
freiberg disease also known as a freiberg infraction is a form of avascular necrosis in the metatarsal it generally develops in the second metatarsal but can occur in any metatarsal physical stress causes repeated microfractures where the middle of the metatarsal meets the growth plate these restrict circulation to the end of the metatarsal causing the necrosis it is an uncommon condition occurring most often in young women athletes and those with abnormally long metatarsals approximately 80 of those diagnosed are women
kienbock s disease
osteochondritis dissecans
osteochondritis dissecans ocd or od is a joint disorder in which cracks form in the articular cartilage and the underlying subchondral bone ocd usually causes pain and swelling of the affected joint which catches and locks during movement physical examination typically reveals an effusion tenderness and a crackling sound with joint movement
osteochondritis dissecans ocd or od is a joint disorder in which cracks form in the articular cartilage and the underlying subchondral bone ocd usually causes pain and swelling of the affected joint which catches and locks during movement physical examination typically reveals an effusion tenderness and a crackling sound with joint movement ocd is caused by blood deprivation in the subchondral bone this loss of blood flow causes the subchondral bone to die in a process called avascular necrosis the bone is then reabsorbed by the body leaving the articular cartilage it supported prone to damage the result is fragmentation dissection of both cartilage and bone and the free movement of these bone and cartilage fragments within the joint space causing pain and further damage ocd can be difficult to diagnose because these symptoms are found with other diseases however the disease can be confirmed by x rays computed tomography ct or magnetic resonance imaging mri scans non surgical treatment is rarely an option as the ability for articular cartilage to heal is limited as a result even moderate cases require some form of surgery when possible non operative forms of management such as protected reduced or non weight bearing and immobilization are used surgical treatment includes arthroscopic drilling of intact lesions securing of cartilage flap lesions with pins or screws drilling and replacement of cartilage plugs stem cell transplantation and joint replacement after surgery rehabilitation is usually a two stage process of immobilization and physical therapy most rehabilitation programs combine efforts to protection the joint with muscle strengthening and range of motion during the immobilization period isometric exercises such as straight leg raises are commonly used to restore muscle loss without disturbing the cartilage of the affected joint once the immobilization period has ended physical therapy involves continuous passive motion cpm and or low impact activities such as walking or swimming ocd occurs in 15 to 30 people per 100 000 in the general population each year although rare it is an important cause of joint pain in physically active adolescents because their bones are still growing adolescents are more likely than adults to recover from ocd recovery in adolescents can be attributed to the bone s ability to repair damaged or dead bone tissue and cartilage in a process called bone remodeling while ocd may affect any joint the knee tends to be the most commonly affected and constitutes 75 of all cases franz könig coined the term osteochondritis dissecans in 1887 describing it as an inflammation of the bone – cartilage interface many other conditions were once confused with ocd when attempting to describe how the disease affected the joint including osteochondral fracture osteonecrosis accessory ossification center osteochondrosis and hereditary epiphyseal dysplasia some authors have used the terms osteochondrosis dissecans and osteochondral fragments as synonyms for ocd
tietze syndrome
tietze syndrome also called chondropathia tuberosa or costochondral junction syndrome is a benign inflammation of one or more of the costal cartilages it was first described in 1921 by the german surgeon alexander tietze 1864 – 1927
relapsing polychondritis
relapsing polychondritis is a multi systemic condition characterized by inflammation and deterioration of cartilage the often painful disease can cause joint deformity and be life threatening if the respiratory tract heart valves or blood vessels are affected the exact mechanism is poorly understood but it is thought to be related to an immune mediated attack on particular proteins that are abundant in cartilage
cauliflower ear
young s syndrome
young s syndrome also known as azoospermia sinopulmonary infections sinusitis infertility syndrome and barry perkins young syndrome is a rare condition that encompasses a combination of syndromes such as bronchiectasis rhinosinusitis and reduced fertility in individuals with this syndrome the functioning of the lungs is usually normal but the mucus is abnormally viscous the reduced fertility azoospermia is due to functional obstruction of sperm transport down the genital tract at the epididymis where the sperms are found in viscous lipid rich fluid the syndrome was named after donald young the urologist who first made observations of the clinical signs of the syndrome in 1972 there have been several studies undertaken suggesting that contact with mercury might cause the syndro
glomerulonephritis
glomerulonephritis gn also known as glomerular nephritis is a term used to refer to several kidney diseases usually affecting both kidneys many of the diseases are characterised by inflammation either of the glomeruli or of the small blood vessels in the kidneys hence the name but not all diseases necessarily have an inflammatory component
focal segmental glomerulosclerosis
minimal change disease
minimal change disease mcd also known as nil disease or by is a kidney disease that causes nephrotic syndrome and usually affects children with peak incidence at ages 2 to 3 years the disease degrades the kidney s ability to filter and the impaired renal function causes edema
membranoproliferative glomerulonephritis
membranoproliferative glomerulonephritis mpgn also known as mesangiocapillary glomerulonephritis is a type of glomerulonephritis caused by deposits in the kidney glomerular mesangium and basement membrane gbm thickening activating complement and damaging the glomeruli mpgn accounts for approximately 4 of primary renal causes of nephritic syndrome in children and 7 in adults it should not be confused with membranous glomerulonephritis a condition in where the basement membrane is thickened but the mesangium is not
kidney disease
kidney disease also known as nephropathy or renal disease is damage to or disease of a kidney nephritis is inflammatory kidney disease nephrosis is noninflammatory nephropathy kidney disease usually causes kidney failure renal failure to more or less degree with the amount depending on the type of disease in precise usage disease denotes the structural and etiologic disease entity whereas failure denotes the dysfunction lack of working well that is impaired renal function but in common usage these meanings overlap for example the terms chronic kidney disease and chronic renal failure are usually considered synonymous acute kidney disease has often been called acute renal failure although nephrologists now often tend to call it acute kidney injury about 1 in 8 americans
kidney disease also known as nephropathy or renal disease is damage to or disease of a kidney nephritis is inflammatory kidney disease nephrosis is noninflammatory nephropathy kidney disease usually causes kidney failure renal failure to more or less degree with the amount depending on the type of disease in precise usage disease denotes the structural and etiologic disease entity whereas failure denotes the dysfunction lack of working well that is impaired renal function but in common usage these meanings overlap for example the terms chronic kidney disease and chronic renal failure are usually considered synonymous acute kidney disease has often been called acute renal failure although nephrologists now often tend to call it acute kidney injury about 1 in 8 americans suffer from chronic kidney disease
acute proliferative glomerulonephritis
rapidly progressive glomerulonephritis
rapidly progressive glomerulonephritis rpgn is a syndrome of the kidney that is characterized by a rapid loss of renal function usually a 50 decline in the glomerular filtration rate gfr within 3 months with glomerular crescent formation seen in at least 50 or 75 of glomeruli seen on kidney biopsies if left untreated it rapidly progresses into acute renal failure and death within months in 50 of cases rpgn is associated with an underlying disease such as goodpasture syndrome systemic lupus erythematosus or granulomatosis with polyangiitis the remaining cases are idiopathic regardless of the underlying cause rpgn involves severe injury to the kidneys glomeruli with many of the glomeruli containing characteristic glomerular crescents crescent shaped scars
hematuria
iga nephropathy
iga nephropathy igan also known as iga nephritis berger disease bɛərˈʒeɪ and variations or synpharyngitic glomerulonephritis is a disease of the kidney or nephropathy specifically it is a form of glomerulonephritis or an inflammation of the glomeruli of the kidney
membranous glomerulonephritis
nephrotic syndrome
nephrotic syndrome is a syndrome comprising signs of nephrosis chiefly proteinuria hypoalbuminemia and edema it is a component of glomerulonephrosis in which different degrees of proteinuria occur essentially loss of protein through the kidneys proteinuria leads to low protein levels in the blood hypoproteinemia including hypoalbuminemia which causes water to be drawn into soft tissues edema very low hypoalbuminemia can also cause a variety of secondary problems such as water in the abdominal cavity ascites around the heart or lung pericardial effusion pleural effusion high cholesterol hence hyperlipidemia loss of molecules regulating coagulation hence increased risk of thrombosis
thin basement membrane disease
interstitial nephritis
interstitial nephritis or tubulo interstitial nephritis is a form of nephritis affecting the interstitium of the kidneys surrounding the tubules this disease can be either acute meaning it occurs suddenly or chronic meaning it is ongoing and eventually ends in kidney failure
pyelonephritis
pyelonephritis is an inflammation of the kidney tissue calyces and renal pelvis it is commonly caused by bacterial infection that has spread up the urinary tract or travelled through the bloodstream to the kidneys a similar term is pyelitis which means inflammation of the pelvis and calyces in other words pyelitis together with nephritis is collectively known as pyelonephritis severe cases of pyelonephritis can lead to pyonephrosis pus accumulation around the kidney sepsis a systemic inflammatory response of the body to infection kidney failure and even death
obstructive uropathy
obstructive uropathy is a structural or functional hindrance of normal urine flow sometimes leading to renal dysfunction obstructive nephropathy it is a very broad term and does not imply a location or etiology
hydronephrosis
hydronephrosis — literally water inside the kidney — refers to distension and dilation of the renal pelvis and calyces usually caused by obstruction of the free flow of urine from the kidney untreated it leads to progressive atrophy of the kidney one or both kidneys may be affected in cases of hydroureteronephrosis there is distention of both the ureter and the renal pelvis and calices
retroperitoneal fibrosis
retroperitoneal fibrosis or ormond s disease is a disease featuring the proliferation of fibrous tissue in the retroperitoneum the compartment of the body containing the kidneys aorta renal tract and various other structures it may present with lower back pain kidney failure hypertension deep vein thrombosis and other obstructive symptoms it is named after john kelso ormond who rediscovered the condition in 1948
vesicoureteral reflux
vesicoureteral reflux vur is a condition in which urine flows retrograde or backward from the bladder into the ureters kidneys urine normally travels in one direction forward or antegrade from the kidneys to the bladder via the ureters with a 1 way valve at the ureterovesical ureteral bladder junction preventing backflow the valve is formed by oblique tunneling of the distal ureter through the wall of the bladder creating a short length of ureter 1 – 2 cm that can be compressed as the bladder fills reflux occurs if the ureter enters the bladder without sufficient tunneling i e too end on
analgesic nephropathy
analgesic nephropathy is injury to the kidney caused by analgesic medications such as aspirin phenacetin and paracetamol the term usually refers to damage induced by excessive use of combinations of these medications especially combinations that include phenacetin it may also be used to describe kidney injury from any single analgesic medication
balkan endemic nephropathy
acute kidney injury
acute kidney injury aki previously called acute renal failure arf is an abrupt loss of kidney function that develops within 7 days its causes are numerous generally it occurs because of damage to the kidney tissue caused by decreased kidney blood flow kidney ischemia from any cause e g low blood pressure exposure to substances harmful to the kidney an inflammatory process in the kidney or an obstruction of the urinary tract that impedes the flow of urine aki is diagnosed on the basis of characteristic laboratory findings such as elevated blood urea nitrogen and creatinine or inability of the kidneys to produce sufficient amounts of urine
acute kidney injury aki previously called acute renal failure arf is an abrupt loss of kidney function that develops within 7 days its causes are numerous generally it occurs because of damage to the kidney tissue caused by decreased kidney blood flow kidney ischemia from any cause e g low blood pressure exposure to substances harmful to the kidney an inflammatory process in the kidney or an obstruction of the urinary tract that impedes the flow of urine aki is diagnosed on the basis of characteristic laboratory findings such as elevated blood urea nitrogen and creatinine or inability of the kidneys to produce sufficient amounts of urine aki may lead to a number of complications including metabolic acidosis high potassium levels uremia changes in body fluid balance and effects on other organ systems including death people who have experienced aki may have an increased risk of chronic kidney disease in the future management includes treatment of the underlying cause and supportive care such as renal replacement therapy
kidney failure
kidney failure also known as renal failure or renal insufficiency is a medical condition of impaired kidney function in which the kidneys fail to adequately filter metabolic wastes from the blood the two main forms are acute kidney injury which is often reversible with adequate treatment and chronic kidney disease which is often not reversible in both cases there is usually an underlying cause
kidney failure also known as renal failure or renal insufficiency is a medical condition of impaired kidney function in which the kidneys fail to adequately filter metabolic wastes from the blood the two main forms are acute kidney injury which is often reversible with adequate treatment and chronic kidney disease which is often not reversible in both cases there is usually an underlying cause kidney failure is mainly determined by a decrease in glomerular filtration rate which is the rate at which blood is filtered in the glomeruli of the kidney the condition is detected by a decrease in or absence of urine production or determination of waste products creatinine or urea in the blood depending on the cause hematuria blood loss in the urine and proteinuria protein loss in the urine may be noted in kidney failure there may be problems with increased fluid in the body leading to swelling increased acid levels raised levels of potassium decreased levels of calcium increased levels of phosphate and in later stages anemia bone health may also be affected long term kidney problems are associated with an increased risk of cardiovascular disease
chronic kidney disease
chronic kidney disease ckd also known as chronic renal disease is progressive loss in kidney function over a period of months or years the symptoms of worsening kidney function are not specific and might include feeling generally unwell and experiencing a reduced appetite often chronic kidney disease is diagnosed as a result of screening of people known to be at risk of kidney problems such as those with high blood pressure or diabetes and those with a bloodline relative with ckd this disease may also be identified when it leads to one of its recognized complications such as cardiovascular disease anemia pericarditis or renal osteodystrophy the latter included in the novel term ckd mbd ckd is a long term form of kidney disease thus it is differentiated from acute kidney d
uremia
uremia can be translated as urea in the blood urea is one of the primary components of urine it can be defined as an excess of amino acid and protein metabolism end products such as urea and creatinine in the blood that would be normally excreted in the urine the uremic syndrome can be defined as the terminal clinical manifestation of kidney failure also called renal failure it is the signs symptoms and results from laboratory tests which result from inadequate excretory regulatory and endocrine function of the kidneys both uremia and the uremic syndrome have been used interchangeably to define a very high plasma urea concentration that is the result of renal failure the latter definition will be used for the rest of the article
kidney stone disease
kidney stone disease also known as urolithiasis is when a solid piece of material kidney stone occurs in the urinary tract kidney stones typically form in the kidney and leave the body in the urine stream a small stone may pass without causing symptoms if a stone grows to more than 5 millimeters 0 2 in it can cause blockage of the ureter resulting in severe pain in the lower back or abdomen a stone may also result in blood in the urine vomiting or painful urination about half of people will have another stone within ten years
renal colic
renal colic is a type of abdominal pain commonly caused by kidney stones
renal osteodystrophy
renal osteodystrophy is currently defined as an alteration of bone morphology in patients with chronic kidney disease ckd it is one measure of the skeletal component of the systemic disorder of chronic kidney disease mineral and bone disorder ckd mbd the term renal osteodystrophy was coined in 1943 60 years after an association was identified between bone disease and renal failure the traditional types of renal osteodystrophy have been defined on the basis of turnover and mineralization as follows mild slight increase in turnover and normal mineralization osteitis fibrosa increased turnover and normal mineralization osteomalacia decreased turnover and abnormal mineralization adynamic decreased turnover and acellularity mixed increased turnover with abnormal mineralizati
pseudohypoaldosteronism
pseudohypoaldosteronism pha is a condition that mimics hypoaldosteronism however the condition is due to a failure of response to aldosterone and levels of aldosterone are actually elevated due to a lack of feedback inhibition treatment of severe forms of pha requires relatively large amounts of sodium chloride these conditions also involve hyperkalemia types include
pseudohypoaldosteronism pha is a condition that mimics hypoaldosteronism however the condition is due to a failure of response to aldosterone and levels of aldosterone are actually elevated due to a lack of feedback inhibition this syndrome was first described by cheek and perry in 1958 later pediatric endocrinologist aaron hanukoglu reported that there are two independent forms of pha with different inheritance patterns renal form with autosomal dominant inheritance exhibiting salt loss mainly from the kidneys and multi system form with autosomal recessive form exhibiting salt loss from kidney lung and sweat and salivary glands treatment of severe forms of pha requires relatively large amounts of sodium chloride these conditions also involve hyperkalemia types include
renal tubular acidosis
renal tubular acidosis rta is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately acidify the urine in renal physiology when blood is filtered by the kidney the filtrate passes through the tubules of the nephron allowing for exchange of salts acid equivalents and other solutes before it drains into the bladder as urine the metabolic acidosis that results from rta may be caused either by failure to reabsorb sufficient bicarbonate ions which are alkaline from the filtrate in the early portion of the nephron the proximal tubule or by insufficient secretion of hydrogen ions which are acidic into the latter portions of the nephron the distal tubule although a metabolic acidosis also occurs in those with renal i
gitelman syndrome
gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia it is caused by loss of function mutations of the thiazide sensitive sodium chloride symporter also known as ncc ncct or tsc located in the distal convoluted tubule
renal cyst
nephroptosis
nephroptosis also called floating kidney or renal ptosis is an abnormal condition in which the kidney drops down into the pelvis when the patient stands up it is more common in women than in men it has been one of the most controversial conditions among doctors in both its diagnosis and its treatments
ureterocele
a ureterocele is a congenital abnormality found in the ureter in this condition the distal ureter balloons at its opening into the bladder forming a sac like pouch it is most often associated with a duplicated collection system where two ureters drain their respective kidney instead of one simple ureterocele where the condition involves only a single ureter represents only twenty percent of cases ureterocele affects one in 4 000 individuals at least four fifths of whom are female patients are frequently caucasian
a ureterocele is a congenital abnormality found in the ureter in this condition the distal ureter balloons at its opening into the bladder forming a sac like pouch it is most often associated with a duplicated collection system where two ureters drain their respective kidney instead of one simple ureterocele where the condition involves only a single ureter represents only twenty percent of cases ureterocele affects one in 4 000 individuals at least four fifths of whom are female patients are frequently caucasian since the advent of the ultrasound most ureteroceles are diagnosed prenatally the pediatric and adult conditions are often found incidentally i e through diagnostic imaging performed for unrelated reasons
megaureter
megaureter is a medical anomaly whereby the ureter is abnormally dilated congenital megaureter is an uncommon condition which is more common in males may be bilateral and is often associated with other congenital anomalies the cause is thought to be aperistalsis of the distal ureter leading to dilatation a functional obstruction at the lower end of the ureter leads to progressive dilatation and a tendency to infection the ureteric orifice appears normal and a ureteric catheter passes easily
megaureter is a medical anomaly whereby the ureter is abnormally dilated congenital megaureter is an uncommon condition which is more common in males may be bilateral and is often associated with other congenital anomalies the cause is thought to be aperistalsis of the distal ureter leading to dilatation a functional obstruction at the lower end of the ureter leads to progressive dilatation and a tendency to infection the ureteric orifice appears normal and a ureteric catheter passes easily definitive surgical treatment involves refashioning the lower end of the affected ureter so that a tunnelled reimplantation into the bladder can be done to prevent reflux
interstitial cystitis
interstitial cystitis ic also known as bladder pain syndrome bps is a type of chronic pain that affects the bladder symptoms include feeling the need to urinate right away needing to urinate often and pain with sex ic bps is associated with depression and lower quality of life many of those affected also have irritable bowel syndrome and fibromyalgia
interstitial cystitis ic also known as bladder pain syndrome bps is a type of chronic pain that affects the bladder symptoms include feeling the need to urinate right away needing to urinate often and pain with sex ic bps is associated with depression and lower quality of life many of those affected also have irritable bowel syndrome and fibromyalgia the cause of ic bps is unknown while it can it does not typically run in a family the diagnosis is usually based on the symptoms after ruling out other conditions typically the urine culture is negative ulceration or inflammation maybe seen on cystoscopy other conditions which can produce similar symptoms include urinary tract infection uti overactive bladder sexually transmitted infections endometriosis bladder cancer and prostatitis there is no cure for interstitial cystitis treatments that may improve symptoms include lifestyle changes medications or procedures lifestyle changes may include stopping smoking and reducing stress medications may include ibuprofen pentosan polysulfate or amitriptyline procedures may include bladder distention nerve stimulation or surgery pelvic floor exercises and long term antibiotics are not recommended in the united states and europe it is estimated that around 0 5 of people are affected women are affected about five times as often as men onset is typically in middle age the term interstitial cystitis first came into use in 1887
neurogenic bladder dysfunction
neurogenic bladder dysfunction sometimes simply referred to as neurogenic bladder is a dysfunction of the urinary bladder due to disease of the central nervous system or peripheral nerves involved in the control of micturition urination neurogenic bladder usually causes difficulty or full inability to pass urine without use of a catheter or other method
urethritis
urethral stricture
a urethral stricture is a narrowing of the urethra caused by injury instrumentation infection and certain non infectious forms of urethritis
urinary tract infection
a urinary tract infection uti is an infection that affects part of the urinary tract when it affects the lower urinary tract it is known as a bladder infection cystitis and when it affects the upper urinary tract it is known as kidney infection pyelonephritis symptoms from a lower urinary tract include pain with urination frequent urination and feeling the need to urinate despite having an empty bladder symptoms of a kidney infection include fever and flank pain usually in addition to the symptoms of a lower uti rarely the urine may appear bloody in the very old and the very young symptoms may be vague or non specific
pyuria
in medicine pyuria paɪjʊəˈriːə is the condition of urine containing white blood cells or pus defined as the presence of 6 10 or more neutrophils per high power field of unspun voided mid stream urine it can be a sign of a bacterial urinary tract infection pyuria may be present in the septic patient or in an older patient with pneumonia
in medicine pyuria paɪjʊəˈriːə is the condition of urine containing white blood cells or pus defined as the presence of 6 10 or more neutrophils per high power field of unspun voided mid stream urine it can be a sign of a bacterial urinary tract infection pyuria may be present in the septic patient or in an older patient with pneumonia sterile pyuria is urine which contains white blood cells while appearing sterile by standard culturing techniques it is often caused by sexually transmitted infections such as gonorrhea or viruses which will not grow in bacterial cultures sterile pyuria is listed as a side effect from some medications such as paracetamol acetaminophen its occurrence is also associated with certain disease processes such as kawasaki disease and genitourinary tuberculosis however there are many known causes including systemic or infectious disease structural and physiological reasons intrinsic kidney pathology or drugs
urinary incontinence
urinary incontinence ui also known as involuntary urination is any leakage of urine it is a common and distressing problem which may have a large impact on quality of life urinary incontinence is often a result of an underlying medical condition but is under reported to medical practitioners enuresis is often used to refer to urinary incontinence primarily in children such as nocturnal enuresis bed wetting there are four main types of incontinence
dent s disease
dent s disease or dent disease is a rare x linked recessive inherited condition that affects the proximal renal tubules of the kidney it is one cause of fanconi syndrome and is characterized by tubular proteinuria excess calcium in the urine formation of calcium kidney stones nephrocalcinosis and chronic kidney failure
benign prostatic hyperplasia
benign prostatic hyperplasia bph also called benign enlargement of the prostate bep or bpe is a noncancerous increase in size of the prostate bph involves hyperplasia of prostatic stromal and epithelial cells resulting in the formation of large fairly discrete nodules in the transition zone of the prostate when sufficiently large the nodules impinge on the urethra and increase resistance to flow of urine from the bladder this is commonly referred to as obstruction although the urethral lumen is no less patent only compressed resistance to urine flow requires the bladder to work harder during voiding possibly leading to progressive hypertrophy instability or weakness atony of the bladder muscle bph involves hyperplasia an increase in the number of cells rather than
benign prostatic hyperplasia bph also called benign enlargement of the prostate bep or bpe is a noncancerous increase in size of the prostate bph involves hyperplasia of prostatic stromal and epithelial cells resulting in the formation of large fairly discrete nodules in the transition zone of the prostate when sufficiently large the nodules impinge on the urethra and increase resistance to flow of urine from the bladder this is commonly referred to as obstruction although the urethral lumen is no less patent only compressed resistance to urine flow requires the bladder to work harder during voiding possibly leading to progressive hypertrophy instability or weakness atony of the bladder muscle bph involves hyperplasia an increase in the number of cells rather than hypertrophy a growth in the size of individual cells but the two terms are often used interchangeably even among urologists although prostate specific antigen levels may be elevated in these patients because of increased organ volume and inflammation due to urinary tract infections bph does not lead to cancer or increase the risk of cancer adenomatous prostatic growth is believed to begin at approximately age 30 an estimated 50 of men have histologic evidence of bph by age 50 and 75 by age 80 in 40 – 50 of these men bph becomes clinically significant bph was one of the ten most prominent and costly diseases in men older than 50 years of age in a study in the united states
prostatitis
prostatitis less commonly prostatosis is inflammation of the prostate gland prostatitis is classified into acute chronic asymptomatic inflammatory prostatitis and chronic pelvic pain syndrome in the united states prostatitis is diagnosed in 8 percent of all urologist visits and 1 percent of all primary care physician visits
spermatocele
spermatocele spɜːrˈmætəsiːl is a retention cyst of a tubule of the rete testis or the head of the epididymis distended with barely watery fluid that contains spermatozoa spermatoceles are the most common cystic condition encountered within the scrotum they vary in size from several millimeters to many centimeters spermatoceles are generally not painful however some men may experience discomfort from larger spermatoceles they are harmless
testicular torsion
testicular torsion occurs when the spermatic cord from which the testicle is suspended twists cutting off the testicle s blood supply a condition called ischemia the principal symptom is rapid onset of testicular pain the most common underlying cause is a congenital malformation known as a bell clapper deformity wherein the testis is inadequately affixed to the scrotum allowing it to move freely on its axis and susceptible to induced twisting of the cord and its vessels
orchitis
orchitis ˌɔːrˈkaɪtɪs or orchiditis ˌɔːrkɪˈdaɪtɪs from the ancient greek ὄρχις meaning testicle same root as orchid is inflammation of the testes it can also involve swelling heavy pains and frequent infection and is more rarely known as didymitis as in epididymis
epididymitis
epididymitis is a medical condition characterized by discomfort or pain of the epididymis a curved structure at the back of the testicle in which sperm matures and is stored epididymitis is usually characterized as either acute or chronic if acute the onset of testicular pain is often accompanied by inflammation redness and warmth in the scrotum if chronic pain may be the only symptom in either form testicular pain in one or both testes can vary from mild to severe and one or both epididymides may noticeably swell inflame and or harden indurate the pain is often cyclical and may last from less than an hour to several days
azoospermia
azoospermia is the medical condition of a man when sperm count is equal or less then 15 million ml in his semen it is associated with very low levels of fertility or even sterility but many forms are amenable to medical treatment in humans azoospermia affects about 1 of the male population and may be seen in up to 20 of male infertility situations
aspermia
aspermia is the complete lack of semen with ejaculation not to be confused with azoospermia the lack of sperm cells in the semen it is associated with infertility one of the causes of aspermia is retrograde ejaculation which can be brought on by excessive drug use or as a result of prostate surgery it can also be caused by alpha blockers such as tamsulosin and silodosin
infertility
infertility is the inability of a person animal or plant to reproduce by natural means it is usually not the natural state of a healthy adult organism except notably among certain eusocial species mostly haplodiploid insects women who are fertile experience a natural period of fertility before and during ovulation and they are naturally infertile during the rest of the menstrual cycle fertility awareness methods are used to discern when these changes occur by tracking changes in cervical mucus or basal body temperature
infertility is the inability of a person animal or plant to reproduce by natural means it is usually not the natural state of a healthy adult organism except notably among certain eusocial species mostly haplodiploid insects in humans infertility may describe a woman who is unable to conceive as well as being unable to carry a pregnancy to full term there are many biological and other causes of infertility including some that medical intervention can treat estimates from 1997 suggest that worldwide between three and seven per cent of all couples or women have an unresolved problem of infertility many more couples however experience involuntary childlessness for at least one year estimates range from 12 to 28 20 30 of infertility cases are due to male infertility 20 35 are due to female infertility and 25 40 are due to combined problems in both parts in 10 20 of cases no cause is found the most common cause of female infertility is ovulatory problems which generally manifest themselves by sparse or absent menstrual periods male infertility is most commonly due to deficiencies in the semen and semen quality is used as a surrogate measure of male fecundity women who are fertile experience a natural period of fertility before and during ovulation and they are naturally infertile during the rest of the menstrual cycle fertility awareness methods are used to discern when these changes occur by tracking changes in cervical mucus or basal body temperature
phimosis
phimosis is a condition of the penis where the foreskin cannot be fully retracted over the glans penis the term may also refer to clitoral phimosis in women whereby the clitoral hood cannot be retracted limiting exposure of the glans clitoridis at birth the foreskin is fused to the glans and is not retractable for some males non retractability may be normal until the age of adolescence
phimosis is a condition of the penis where the foreskin cannot be fully retracted over the glans penis the term may also refer to clitoral phimosis in women whereby the clitoral hood cannot be retracted limiting exposure of the glans clitoridis at birth the foreskin is fused to the glans and is not retractable for some males non retractability may be normal until the age of adolescence normal developmental non retractability does not cause any problems phimosis is deemed pathological when it causes problems such as difficulty urinating or performing common sexual functions there are numerous causes of so called pathological phimosis nonsurgical treatment involves the stretching of the foreskin steroid creams and changing masturbation habits surgical treatments include preputioplasty and circumcision the word is from the greek phimos φῑμός muzzle
paraphimosis
paraphimosis ˌpærəfaɪˈmoʊsᵻs or ˌpærəfəˈmoʊsᵻs is an uncommon medical condition in which the foreskin of an uncircumcised penis becomes trapped behind the glans penis and cannot be reduced pulled back to its normal flaccid position covering the glans if this condition persists for several hours or there is any sign of a lack of blood flow paraphimosis should be treated as a medical emergency as it can result in gangrene
balanitis
priapism
priapism is a medical condition in which the erect penis does not return to its flaccid state despite the absence of both physical and psychological stimulation within four hours priapism is potentially painful and is considered a medical emergency which should receive proper treatment by a qualified medical practitioner there are two types of priapism low flow ischemic and high flow nonischemic 80 to 90 of clinically presented priapisms are low flow disorders low flow involves the blood not adequately returning to the body from the penis high flow involves a short circuit of the vascular system partway along the penis treatment is different for each type early treatment can be beneficial for a functional recovery
priapism is a medical condition in which the erect penis does not return to its flaccid state despite the absence of both physical and psychological stimulation within four hours priapism is potentially painful and is considered a medical emergency which should receive proper treatment by a qualified medical practitioner there are two types of priapism low flow ischemic and high flow nonischemic 80 to 90 of clinically presented priapisms are low flow disorders low flow involves the blood not adequately returning to the body from the penis high flow involves a short circuit of the vascular system partway along the penis treatment is different for each type early treatment can be beneficial for a functional recovery not all sources give four hours as the guideline for priapism occurring the duration time of a normal erection before it is classifiable as priapism is still controversial ongoing penile erections for more than 6 hours can be classified as priapism
peyronie s disease
peyronie s disease or peyronie disease peɪroʊˈniː also known as induratio penis plastica ipp or chronic inflammation of the tunica albuginea cita is a connective tissue disorder involving the growth of fibrous plaques in the soft tissue of the penis affecting an estimated 5 of men specifically scar tissue forms in the tunica albuginea the thick sheath of tissue surrounding the corpora cavernosa causing pain abnormal curvature erectile dysfunction indentation loss of girth and shortening a variety of treatments have been used but none have been especially effective
frenulum breve
frenulum breve or short frenulum is a condition in which the frenulum of the penis which is an elastic band of tissue under the glans penis that connects to the foreskin and helps contract it over the glans is too short and thus restricts the movement of the foreskin the frenulum should normally be sufficiently long and supple to allow for the full retraction of the foreskin so that it lies smoothly back on the shaft of the erect penis
frenulum breve or short frenulum is a condition in which the frenulum of the penis which is an elastic band of tissue under the glans penis that connects to the foreskin and helps contract it over the glans is too short and thus restricts the movement of the foreskin the frenulum should normally be sufficiently long and supple to allow for the full retraction of the foreskin so that it lies smoothly back on the shaft of the erect penis the penile frenulum is comparable to the tongue s frenulum between the tongue s lower surface and the lower jaw or the frenulum between the upper lip and the outside of the upper gum
hirsuties coronae glandis
hirsuties coronae glandis also known as hirsutoid papillomas and pearly penile papules are small protuberances that may form on the ridge of the glans of the human penis they are a harmless anatomical variation though sometimes confused with hpv infection the papules are not a sexually transmitted infection and are not contagious
hirsuties coronae glandis also known as hirsutoid papillomas and pearly penile papules are small protuberances that may form on the ridge of the glans of the human penis they are a harmless anatomical variation though sometimes confused with hpv infection the papules are not a sexually transmitted infection and are not contagious the papules appear as one or several rows of small pearly or flesh colored smooth dome topped bumps situated circumferentially around the corona or sulcus of the glans they may range in size from less than 1 mm to 3 mm as of 1999 different studies have produced estimates of incidence ranging from 8 to 48 percent of all men studies suggest that it occurs more often on younger men and those who have not been circumcised one study found them in 33 3 of males who had not been circumcised and in 7 1 of circumcised males hirsuties coronae glandis are sometimes described as vestigial remnants of penile spines sensitive features found in the same location in other primates in species which retain the full expression of penile spines the spines contribute to sexual pleasure and quicker orgasms a similar expression vestibular papillomatosis of the vulva or hirsuties papillaris vulvae occurs in females and similarly can be misinterpreted as an outbreak of the hpv infection like hirsuties papillaris genitalis it is a normal variation on human anatomy
fournier gangrene
ejaculatory duct obstruction
ejaculatory duct obstruction edo is a congenital or acquired pathological condition which is characterized by the obstruction of one or both ejaculatory ducts thus the efflux of most constituents of semen is not possible it is a cause of male infertility and or pelvic pain ejaculatory duct obstruction must not be confused with an obstruction of the vas deferens
retrograde ejaculation
retrograde ejaculation occurs when semen which would in most cases be ejaculated via the urethra is redirected to the urinary bladder normally the sphincter of the bladder contracts before ejaculation forcing the semen to exit via the urethra the path of least resistance when the bladder sphincter does not function properly retrograde ejaculation may occur it can also be induced deliberately by a male as a primitive form of male birth control known as coitus saxonicus or as part of certain alternative medicine practices
breast cyst
a breast cyst is a fluid filled sac within the breast one breast can have one or more breast cysts they are often described as round or oval lumps with distinct edges in texture a breast cyst usually feels like a soft grape or a water filled balloon but sometimes a breast cyst feels firm breast cysts are not to be confused with milk cysts galactoceles which usually appear during weaning
a breast cyst is a fluid filled sac within the breast one breast can have one or more breast cysts they are often described as round or oval lumps with distinct edges in texture a breast cyst usually feels like a soft grape or a water filled balloon but sometimes a breast cyst feels firm breast cysts can be painful and may be worrisome but are generally benign they are most common in pre menopausal women in their 30 s or 40 s they usually disappear after menopause but may persist or reappear when using hormone therapy they are also common in adolescents breast cysts can be part of fibrocystic disease the pain and swelling is usually worse in the second half of the menstrual cycle or during pregnancy treating breast cysts is usually not necessary unless they are painful or cause discomfort in most cases the discomfort they cause may be alleviated by draining the fluid from the cyst the cysts form as a result of the growth of the milk glands and their size may range from smaller than a pea to larger than a ping pong ball small cysts cannot be felt during a physical examination and some large cysts feel like lumps however most cysts regardless of their size cannot be identified during physical exams breast cysts are not to be confused with milk cysts galactoceles which usually appear during weaning
fibrocystic breast changes
fibrocystic breasts or fibrocystic breast disease or fibrocystic breast condition commonly referred to as fbc is a condition of breast tissue affecting an estimated 30 60 of women and at least 50 of women of childbearing age some studies indicate that the lifetime prevalence of fbc may be as high as 70 to 90 it is characterized by noncancerous breast lumps which can sometimes cause discomfort often periodically related to hormonal influences from the menstrual cycle
mastitis
mastitis also called mammitis is inflammation of breast or udder tissue usually due to infection staphylococcus aureus is the most common pathogen responsible but s epidermidis and streptococci are occasionally isolated as well early stages of mastitis can present with local pain redness swelling and warmth later stages also present with systemic symptoms like fever and flu like symptoms and in rare cases an abscess can develop however it is pretty common that symptoms develop very quickly without any warning mastitis in dairy cattle has substantial economic importance in dairying
gynecomastia
gynecomastia is a common disorder of the endocrine system in which there is a non cancerous increase in the size of male breast tissue most adolescent boys up to 70 have some breast development during puberty newborn and adolescent males often experience temporary gynecomastia due to the influence of maternal hormones and hormonal changes during puberty respectively
breast hypertrophy
hypertrophy of the breast macromastia and gigantomastia is a rare medical condition of the breast connective tissues the indication is a breast weight that exceeds approximately 3 of the total body weight there are varying definitions of what is considered to be excessive breast tissue that is the expected breast tissue plus extraordinary breast tissue ranging from as little as 0 6 kilograms 1 3 lb up to 2 5 kilograms 5 5 lb with most physicians defining macromastia as excessive tissue of over 1 5 kilograms 3 3 lb some resources distinguish between macromastia greek macro large mastos breast where excessive tissue is less than 2 5 kg and gigantomastia greek gigantikos giant where excessive tissue is more than 2 5 kg the enlargement can cause muscular discomfort
hypertrophy of the breast macromastia and gigantomastia is a rare medical condition of the breast connective tissues the indication is a breast weight that exceeds approximately 3 of the total body weight there are varying definitions of what is considered to be excessive breast tissue that is the expected breast tissue plus extraordinary breast tissue ranging from as little as 0 6 kilograms 1 3 lb up to 2 5 kilograms 5 5 lb with most physicians defining macromastia as excessive tissue of over 1 5 kilograms 3 3 lb some resources distinguish between macromastia greek macro large mastos breast where excessive tissue is less than 2 5 kg and gigantomastia greek gigantikos giant where excessive tissue is more than 2 5 kg the enlargement can cause muscular discomfort and over stretching of the skin envelope which can lead in some cases to ulceration hypertrophy of the breast tissues might be caused by increased histologic sensitivity to certain hormones such as female sex hormones prolactin and growth factors or an abnormally elevated hormone s level in the blood or both breast hypertrophy is a benign progressive enlargement which can occur in both breasts bilateral or only in one breast unilateral it was first scientifically described in 1648
galactorrhea
breast pain
breast pain also known as breast tenderness mastodynia mammalgia and mastalgia from the greek μαστός mastos breast and ἄλγος algos pain is a medical symptom pain and discomfort may range from minor to severely incapacitating breast pain during lactation or after weaning is not included into this definition but is usually classified as breast engorgement or mastitis
inverted nipple
an inverted nipple occasionally invaginated nipple is a condition where the nipple instead of pointing outward is retracted into the breast in some cases the nipple will be temporarily protruded if stimulated women and men can have inverted nipples
salpingitis
endometritis
endometritis is inflammation of the endometrium the inner lining of the uterus pathologists have traditionally classified endometritis as either acute or chronic acute endometritis is characterized by the presence of microabscesses or neutrophils within the endometrial glands while chronic endometritis is distinguished by variable numbers of plasma cells within the endometrial stroma the most common cause of endometritis is infection symptoms include lower abdominal pain fever and abnormal vaginal bleeding or discharge caesarean section prolonged rupture of membranes and long labor with multiple vaginal examinations are important risk factors treatment is usually with broad spectrum antibiotics
pyometra
pyometra or pyometrea is a uterine infection though it is most commonly known as a disease of the unaltered female dog it is also a notable human disease it is also seen in female cats queens rabbits hamsters ferrets rats and guinea pigs pyometra is an important disease to be aware of for any dog owner because of the sudden nature of the disease and the deadly consequences if left untreated it has been compared to acute appendicitis in humans because both are essentially empyemas within an abdominal organ
cervicitis
cervicitis is inflammation of the uterine cervix cervicitis in women has many features in common with urethritis in men and many cases are caused by sexually transmitted infections death may occur non infectious causes of cervicitis can include intrauterine devices contraceptive diaphragms and allergic reactions to spermicides or latex condoms the condition is often confused with vaginismus which is a much simpler condition and easily rectified with simple exercises
bartholin s cyst
a bartholin s cyst also known as bartholinitis occurs when a bartholin s gland is blocked and the gland becomes inflamed sizes range from that of a pea to that of an egg and form just within each side of the lower part of the opening of the vagina an abscess may form if the cyst becomes infected in this case it often becomes red and painful when touched bartholin s cysts are most likely in women of childbearing age about two percent of women have the problem at some point in their life
bacterial vaginosis
bacterial vaginosis bv is a disease of the vagina caused by excessive growth of bacteria common symptoms include increased vaginal discharge that often smells like fish the discharge is usually white or gray in color burning with urination may occur itching is uncommon occasionally there may be no symptoms having bv approximately doubles the risk of infection by a number of other sexually transmitted infections including hiv aids it also increases the risk of early delivery among pregnant women
vaginitis
vaginitis also known as vaginal infection and vulvovaginitis is an inflammation of the vagina and possible vulva it can result in discharge itching and pain and is often associated with an irritation or infection of the vulva infected women may also be asymptomatic
endometriosis
endometriosis is a disease in which tissue that normally grows inside the uterus grows outside it the main symptoms are pelvic pain and infertility nearly half of those affected have chronic pelvic pain while in 70 pain occurs during menstruation pain during sex is also common infertility occurs in up to half of women affected less common symptoms include urinary or bowel symptoms about 25 of women have no symptoms endometriosis can have both social and psychological effects
endometriosis is a disease in which tissue that normally grows inside the uterus grows outside it the main symptoms are pelvic pain and infertility nearly half of those affected have chronic pelvic pain while in 70 pain occurs during menstruation pain during sex is also common infertility occurs in up to half of women affected less common symptoms include urinary or bowel symptoms about 25 of women have no symptoms endometriosis can have both social and psychological effects the cause is not entirely clear risk factors include having a family history of the condition most often the ovaries fallopian tubes and tissue around the uterus and ovaries are affected however in rare cases it may also occur in other parts of the body the areas of endometriosis bleed each month resulting in inflammation and scarring the growths due to endometriosis are not cancer diagnosis is usually based on symptoms in combination with medical imaging biopsy is the most sure method of diagnosis other causes of similar symptoms include pelvic inflammatory disease irritable bowel syndrome interstitial cystitis and fibromyalgia tentative evidence suggests that the use of combined oral contraceptives reduces the risk of endometriosis exercise and avoiding large amounts of alcohol may also be preventative there is no cure for endometriosis but a number of treatments may improve symptoms this may include pain medication hormonal treatments or surgery the recommended pain medication is usually an nsaid such as naproxen taking the active component of the birth control pill continuously or using an intrauterine device with progestogen may also be useful gonadotropin releasing hormone agonist may improve the ability of those who are infertile to get pregnant surgical removal of endometriosis may be used to treat those whose symptoms are not manageable with other treatments endometriosis is estimated to occur in roughly 6 – 10 of women it is most common in those in their thirties and forties however can begin in girls as early as 8 years old it results in few deaths with this being estimated at 200 globally in 2013 endometriosis was first determined to be a separate condition in the 1920 s before that time endometriosis and adenomyosis were considered together it is unclear who first described the disease
female genital prolapse
female genital prolapse or vaginal prolapse or pelvic organ prolapse is characterized by a portion of the vaginal canal protruding prolapsing from the opening of the vagina the condition usually occurs when the pelvic floor collapses as a result of childbirth or heavy lifting which can tear soft tissues i e herniating fascia membranes so that the vaginal wall collapses resulting in cystocele rectocele or both remediation typically involves dietary and lifestyle changes physical therapy or surgery
cystocele
a cystocele ˈsɪstəsiːl sis tə seel is a medical condition that occurs when the tough fibrous wall between a woman s bladder and her vagina the pubocervical fascia is torn by childbirth allowing the bladder to herniate into the vagina urethroceles often occur with cystoceles
uterine prolapse
rectocele
a rectocele ˈrɛktəsiːl rek tə seel results from a tear in the rectovaginal septum which is normally a tough fibrous sheet like divider between the rectum and vagina rectal tissue bulges through this tear and into the vagina as a hernia there are two main causes of this tear childbirth and hysterectomy
vesicovaginal fistula
vesicovaginal fistula vvf is a subtype of female urogenital fistula ugf
rectovaginal fistula
a rectovaginal fistula is a medical condition where there is a fistula or abnormal connection between the rectum and the vagina rectovaginal fistula may be extremely debilitating if the opening between the rectum and vagina is wide it will allow both flatulence and feces to escape through the vagina leading to fecal incontinence there is an association with recurrent urinary and vaginal infections this type of fistula can cause pediatricians to misdiagnose imperforate anus the severity of the symptoms will depend on the size of fistula most often it appears after about one week or so after delivery
ovarian cyst
an ovarian cyst is a fluid filled sac within the ovary often they cause no symptoms occasionally they may produce bloating lower abdominal pain or lower back pain if the cyst either breaks open or causes twisting of the ovary severe pain may occur this may result in vomiting or feeling faint the majority of cysts are however harmless most women of reproductive age develop small cysts each month large cysts that cause problems occur in about 8 of women before menopause ovarian cysts are present in about 16 of women after menopause and if present are more likely to be cancer
ovarian torsion
ovarian torsion accounts for about 3 of gynecologic emergencies the incidence of ovarian torsion among women of all ages is 5 9 per 100 000 women and the incidence among women of reproductive age 15 – 45 years is 9 9 per 100 000 women in 70 of cases it is diagnosed in women between 20 and 39 years of age the risk is greater during pregnancy and in menopause risk factors include increased length of the ovarian ligaments pathologically enlarged ovaries more than 6 cm ovarian masses or cysts and enlarged corpus luteum in pregnancy
endometrial hyperplasia
endometrial hyperplasia is a condition of excessive proliferation of the cells of the endometrium or inner lining of the uterus most cases of endometrial hyperplasia result from high levels of estrogens combined with insufficient levels of the progesterone like hormones which ordinarily counteract estrogen s proliferative effects on this tissue this may occur in a number of settings including obesity polycystic ovary syndrome estrogen producing tumours e g granulosa cell tumour and certain formulations of estrogen replacement therapy endometrial hyperplasia is a significant risk factor for the development or even co existence of endometrial cancer so careful monitoring and treatment of women with this disorder is essential
asherman s syndrome
asherman syndrome as or fritsch syndrome is a condition characterized by adhesions and or fibrosis of the endometrium particularly but can also affect the myometrium it is often associated with dilation and curettage of the intrauterine cavity a number of other terms have been used to describe the condition and related conditions including intrauterine adhesions iua uterine cervical atresia traumatic uterine atrophy sclerotic endometrium endometrial sclerosis and intrauterine synechiae
cervical ectropion
cervical ectropion or cervical eversion is a condition in which the central endocervical columnar epithelium protrudes out through the external os of the cervix and onto the vaginal portion of the cervix undergoes squamous metaplasia and transforms to stratified squamous epithelium although not an abnormality it is indistinguishable from early cervical cancer therefore further diagnostic studies e g pap smear biopsy must be performed for a differential diagnosis
nabothian cyst
hematocolpos
hematocolpos is a medical condition in which the vagina fills with menstrual blood it is often caused by the combination of menstruation with an imperforate hymen it is sometimes seen in robinow syndrome uterus didelphys or other congenital conditions a related disorder is hematometra where the uterus fills with menstrual blood it presents after puberty as primary amenorrhoea recurrent pelvic pain with a pelvic mass this can be caused by a congenital stenosis of the cervix or by a complication of a surgical treatment
kraurosis vulvae
kraurosis vulvae is a cutaneous condition characterized by atrophy and shrinkage of the skin of the vagina and vulva often accompanied by a chronic inflammatory reaction in the deeper tissues
clitoromegaly
clitoromegaly or macroclitoris is an abnormal enlargement of the clitoris that is mostly congenital or acquired though deliberately induced clitoris enlargement as a form of female genital body modification is achieved through various uses of anabolic steroids including testosterone and may also be referred to as clitoromegaly clitoromegaly is not the same as normal enlargement of the clitoris seen during sexual arousal
amenorrhoea
amenorrhoea be amenorrhea ame or amenorrhœa is the absence of a menstrual period in a woman of reproductive age physiological states of amenorrhoea are seen most commonly during pregnancy and lactation breastfeeding the latter also forming the basis of a form of contraception known as the lactational amenorrhoea method outside of the reproductive years there is absence of menses during childhood and after menopause
oligomenorrhea
oligomenorrhea or oligomenorrhoea is infrequent or in occasional usage very light menstruation more strictly it is menstrual periods occurring at intervals of greater than 35 days with only four to nine periods in a year also menstrual periods should have been regularly established previously before the development of infrequent flow the duration of such events may vary
metrorrhagia
metrorrhagia metro womb rrhagia excessive flow is uterine bleeding at irregular intervals particularly between the expected menstrual periods in some women menstrual spotting between periods occurs as a normal and harmless part of ovulation some women experience acute mid cycle abdominal pain around the time of ovulation sometimes referred to by the german term for this phenomenon mittelschmerz this may also occur at the same time as menstrual spotting the term breakthrough bleeding or breakthrough spotting is usually used for women using hormonal contraceptives such as iuds or oral contraceptives in which it refers to bleeding or spotting between any expected withdrawal bleedings or bleeding or spotting at any time if none is expected if spotting continues beyond the
metrorrhagia metro womb rrhagia excessive flow is uterine bleeding at irregular intervals particularly between the expected menstrual periods in some women menstrual spotting between periods occurs as a normal and harmless part of ovulation some women experience acute mid cycle abdominal pain around the time of ovulation sometimes referred to by the german term for this phenomenon mittelschmerz this may also occur at the same time as menstrual spotting the term breakthrough bleeding or breakthrough spotting is usually used for women using hormonal contraceptives such as iuds or oral contraceptives in which it refers to bleeding or spotting between any expected withdrawal bleedings or bleeding or spotting at any time if none is expected if spotting continues beyond the first three cycles of oral contraceptive use a woman should have her prescription changed to a pill containing either more estrogen or more progesterone besides the aforementioned physiologic forms metrorrhagia may also represent abnormal uterine bleeding and be a sign of an underlying disorder such as hormone imbalance endometriosis uterine fibroids uterine cancer or vaginal cancer if the bleeding is repeated and heavy it can cause significant iron deficiency anemia
mittelschmerz
premenstrual syndrome
premenstrual syndrome pms refers to physical and emotional symptoms that occur in the one to two weeks before a woman s period symptoms often vary between women and resolve around the start of bleeding common symptoms include acne tender breasts bloating feeling tired irritability and mood changes often symptoms are present for around six days a woman s pattern of symptoms may change over time symptoms do not occur during pregnancy or following menopause
dysmenorrhea
dysmenorrhea also known as dysmenorrhoea painful periods or menstrual cramps is pain during menstruation it usually begins around the time that menstruation begins symptoms typically last less than three days the pain is usually in the pelvis or lower abdomen other symptoms may include back pain diarrhea or nausea
menopause
menopause also known as the climacteric is the time in most women s lives when menstrual periods stop permanently and they are no longer able to bear children menopause typically occurs between 49 and 52 years of age medical professionals often define menopause as having occurred when a woman has not had any vaginal bleeding for a year it may also be defined by a decrease in hormone production by the ovaries in those who have had surgery to remove their uterus but they still have ovaries menopause may be viewed to have occurred at the time of the surgery or when their hormone levels fell following the removal of the uterus symptoms typically occur earlier at an average of 45 years of age
menopause also known as the climacteric is the time in most women s lives when menstrual periods stop permanently and they are no longer able to bear children menopause typically occurs between 49 and 52 years of age medical professionals often define menopause as having occurred when a woman has not had any vaginal bleeding for a year it may also be defined by a decrease in hormone production by the ovaries in those who have had surgery to remove their uterus but they still have ovaries menopause may be viewed to have occurred at the time of the surgery or when their hormone levels fell following the removal of the uterus symptoms typically occur earlier at an average of 45 years of age before menopause a woman s periods typically become irregular which means that periods may be longer or shorter in duration or be lighter or heavier in the amount of flow during this time women often experience hot flashes these typically last from 30 seconds to ten minutes and may be associated with shivering sweating and reddening of the skin hot flashes often stop occurring after a year or two other symptoms may include vaginal dryness trouble sleeping and mood changes the severity of symptoms varies between women while menopause is often thought to be linked to an increase in heart disease this primarily occurs due to increasing age and does not have a direct relationship with menopause in some women problems that were present like endometriosis or painful periods will improve after menopause menopause is usually a natural change it can occur earlier in those who smoke tobacco other causes include surgery that removes both ovaries or some types of chemotherapy at the physiological level menopause happens because of a decrease in the ovaries production of the hormones estrogen and progesterone while typically not needed a diagnosis of menopause can be confirmed by measuring hormone levels in the blood or urine menopause is the opposite of menarche the time when a girl s periods start specific treatment is not usually needed some symptoms however may be improved with treatment with respect to hot flashes avoiding smoking caffeine and alcohol is often recommended sleeping in a cool room and using a fan may help the following medications may help menopausal hormone therapy mht clonidine gabapentin or selective serotonin reuptake inhibitors exercise may help with sleeping problems while mht was once routinely prescribed it is now only recommended in those with significant symptoms as there are concerns about side effects high quality evidence for the effectiveness of alternative medicine has not been found there is tentative evidence for soy isoflavones
hormone replacement therapy menopause
hormone replacement therapy hrt in menopause is medical treatment in surgically menopausal perimenopausal and postmenopausal women its goal is to mitigate discomfort caused by diminished circulating estrogen and progesterone hormones in menopause combination hrt is often recommended as it decreases the amount of endometrial hyperplasia and cancer associated with unopposed estrogen therapy the main hormones involved are estrogen progesterone and progestin some recent therapies include the use of androgens as well
recurrent miscarriage
recurrent miscarriage habitual abortion or recurrent pregnancy loss rpl is three or more consecutive pregnancy losses infertility differs because it is the inability to conceive in many cases the cause of rpl is unknown after three or more losses a thorough evaluation is recommended by american society of reproductive medicine about 1 of couples trying to have children are affected by recurrent miscarriage
ovarian hyperstimulation syndrome
ovarian hyperstimulation syndrome ohss is a medical condition affecting the ovaries of some women who take fertility medication to stimulate egg growth most cases are mild but rarely the condition is severe and can lead to serious illness or death
contrast induced nephropathy
contrast induced nephropathy is defined as either a greater than 25 increase of serum creatinine or an absolute increase in serum creatinine of 0 5 mg dl after using iodine contrast agent without another clear cause for kidney injury despite extensive speculation the actual occurrence of contrast induced nephropathy in other patient populations has not been demonstrated in the literature
residual ovary syndrome
residual ovary syndrome or ovarian remnant syndrome is a condition that occurs when ovarian tissue is left behind following oophorectomy causing development of a pelvic mass pelvic pain and occasionally dyspareunia the frequency is about 1 8 in spayed female dogs
ectopic pregnancy
ectopic pregnancy also known as eccyesis or tubal pregnancy is a complication of pregnancy in which the embryo attaches outside the uterus signs and symptoms classically include abdominal pain and vaginal bleeding less than 50 percent of women have both of these symptoms the pain may be described as sharp dull or crampy pain may also spread to the shoulder if bleeding into the abdomen has occurred severe bleeding may result in a fast heart rate fainting or shock with very rare exceptions the fetus is unable to survive
ectopic pregnancy also known as eccyesis or tubal pregnancy is a complication of pregnancy in which the embryo attaches outside the uterus signs and symptoms classically include abdominal pain and vaginal bleeding less than 50 percent of women have both of these symptoms the pain may be described as sharp dull or crampy pain may also spread to the shoulder if bleeding into the abdomen has occurred severe bleeding may result in a fast heart rate fainting or shock with very rare exceptions the fetus is unable to survive risk factors for ectopic pregnancy include pelvic inflammatory disease often due to chlamydia infection tobacco smoking prior tubal surgery a history of infertility and the use of assisted reproductive technology those who have previously had an ectopic pregnancy are at much higher risk of having another one most ectopic pregnancies 90 occur in the fallopian tube which are known as tubal pregnancies implantation can also occur on the cervix ovaries or within the abdomen detection of ectopic pregnancy is typically by blood tests for human chorionic gonadotropin hcg and ultrasound this may require testing on more than one occasion ultrasound works best when performed from within the vagina other causes of similar symptoms include miscarriage ovarian torsion and acute appendicitis prevention is by decreasing risk factors such as chlamydia infections through screening and treatment while some ectopic pregnancies will resolve without treatment this approach has not been well studied as of 2014 the use of the medication methotrexate works as well as surgery in some cases specifically it works well when the beta hcg is low and the size of the ectopic is small surgery is still typically recommended if the tube has ruptured there is a fetal heartbeat or the person s vital signs are unstable the surgery may be laparoscopic or through a larger incision known as a laparotomy outcomes are generally good with treatment the rate of ectopic pregnancy is about 1 and 2 that of live births in developed countries though it may be as high as 4 among those using assisted reproductive technology it is the most common cause of death during the first trimester at approximately 10 of the total in the developed world outcomes have improved while in the developing world they often remain poor the risk of death among those in the developed world is between 0 1 and 0 3 percent while in the developing world it is between one and three percent the first known description of an ectopic pregnancy is by albucasis in the 11 th century the word ectopic means out of place
abdominal pregnancy
an abdominal pregnancy can be regarded as a form of an ectopic pregnancy where the embryo or fetus is growing and developing outside the womb in the abdomen but not in the fallopian tube ovary or broad ligament while rare abdominal pregnancies have a higher chance of maternal mortality perinatal mortality and morbidity compared to normal and ectopic pregnancies but on occasion a healthy viable infant can be delivered others in the minority are of the view that abdominal pregnancy should be defined by a placenta implanted into the peritoneum
an abdominal pregnancy can be regarded as a form of an ectopic pregnancy where the embryo or fetus is growing and developing outside the womb in the abdomen but not in the fallopian tube ovary or broad ligament while rare abdominal pregnancies have a higher chance of maternal mortality perinatal mortality and morbidity compared to normal and ectopic pregnancies but on occasion a healthy viable infant can be delivered because tubal ovarian and broad ligament pregnancies are as difficult to diagnose and treat as abdominal pregnancies their exclusion from the most common definition of abdominal pregnancy has been debated others in the minority are of the view that abdominal pregnancy should be defined by a placenta implanted into the peritoneum
molar pregnancy
molar pregnancy is an abnormal form of pregnancy in which a non viable fertilized egg implants in the uterus and will fail to come to term a molar pregnancy is a gestational trophoblastic disease which grows into a mass in the uterus that has swollen chorionic villi these villi grow in clusters that resemble grapes a molar pregnancy can develop when a fertilized egg does not contain an original maternal nucleus the products of conception may or may not contain fetal tissue it is characterized by the presence of a hydatidiform mole or hydatid mole mola hydatidosa molar pregnancies are categorized as partial moles or complete moles with the word mole being used to denote simply a clump of growing tissue or a growth
anembryonic gestation
an anembryonic gestation also known as a blighted ovum is a pregnancy in which the very early pregnancy appears normal on an ultrasound scan but as the pregnancy progresses a visible embryo never develops or develops and is reabsorbed in a normal pregnancy an embryo would be visible on an ultrasound by six weeks after the woman s last menstrual period rather than do a transvaginal exam at the time of the initial visit many centers prefer to do only a transabdominal study and offer mothers a follow up ultrasound 10 days later to see if a normal pregnancy subsequently develops
miscarriage
miscarriage also known as spontaneous abortion and pregnancy loss is the natural death of an embryo or fetus before it is able to survive independently some use the cutoff of 20 weeks of gestation after which fetal death is known as a stillbirth the most common symptoms of a miscarriage is vaginal bleeding with or without pain sadness anxiety and guilt may occur tissue or clot like material may also come out of the vagina
abortion
abortion is the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus an abortion which occurs spontaneously is also known as a miscarriage an abortion may be caused purposely and is then called an or less frequently induced miscarriage the word abortion is often used to mean only induced abortions a similar procedure after the fetus could potentially survive outside the womb is known as a late termination of pregnancy
abortion is the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus an abortion which occurs spontaneously is also known as a miscarriage an abortion may be caused purposely and is then called an or less frequently induced miscarriage the word abortion is often used to mean only induced abortions a similar procedure after the fetus could potentially survive outside the womb is known as a late termination of pregnancy when allowed by local law abortion in the developed world is modern methods use medication or surgery for abortions the drug mifepristone in combination with prostaglandin appears to be as safe and effective as surgery during the first and second trimester of pregnancy birth control such as the pill or intrauterine devices can be used immediately following abortion when performed legally and safely induced abortions do not increase the risk of long term mental or physical problems in contrast unsafe abortions cause 47 000 deaths and 5 million hospital admissions each year the world health organization recommends safe and legal abortions be available to all women around 56 million abortions occur each year in the world with a little under half done unsafely abortion rates changed little between 2003 and 2008 before which they decreased for at least two decades as access to family planning and birth control increased as of 2008 40 of the world s women had access to legal abortions without limits as to reason countries that permit abortions have different limits on how late in pregnancy abortion is allowed since ancient times abortions have been done using herbal medicines sharp tools with force or through other traditional methods abortion laws and cultural or religious views of abortions are different around the world in some areas abortion is legal only in specific cases such as rape problems with the fetus poverty risk to a woman s health or incest in many places there is much debate over the moral ethical and legal issues of abortion those who oppose abortion often maintain that an embryo or fetus is a human with a right to life and may compare abortion to murder those who favor the legality of abortion often hold that a woman has a right to make decisions about her own body
pre eclampsia
pre eclampsia pe is a disorder of pregnancy characterized by high blood pressure and a large amount of protein in the urine the disorder usually occurs in the third trimester of pregnancy and worsens over time in severe disease there may be red blood cell breakdown a low blood platelet count impaired liver function kidney dysfunction swelling shortness of breath due to fluid in the lungs or visual disturbances pre eclampsia increases the risk of poor outcomes for both the mother and the baby if left untreated it may result in seizures at which point it is known as eclampsia
pre eclampsia pe is a disorder of pregnancy characterized by high blood pressure and a large amount of protein in the urine the disorder usually occurs in the third trimester of pregnancy and worsens over time in severe disease there may be red blood cell breakdown a low blood platelet count impaired liver function kidney dysfunction swelling shortness of breath due to fluid in the lungs or visual disturbances pre eclampsia increases the risk of poor outcomes for both the mother and the baby if left untreated it may result in seizures at which point it is known as eclampsia risk factors for pre eclampsia include obesity prior hypertension older age and diabetes mellitus it is also more frequent in a woman s first pregnancy and if she is carrying twins the underlying mechanism involves abnormal formation of blood vessels in the placenta amongst other factors most cases are diagnosed before delivery rarely preeclampsia may begin in the period after delivery while historically both high blood pressure and protein in the urine were required to make the diagnosis some definitions also include those with hypertension and any associated organ dysfunction blood pressure is defined as high when it is greater than 140 mmhg systolic or 90 mmhg diastolic at two separate times more than four hours apart in a woman after twenty weeks of pregnancy preeclampsia is routinely screened for during prenatal care recommendations for prevention include aspirin in those at high risk calcium supplementation in areas with low intake and treatment of prior hypertension with medications in those with preeclampsia delivery of the fetus and placenta is an effective treatment when delivery becomes recommended depends on how severe the preeclampsia and how far along in pregnancy a person is blood pressure medication such as labetalol and methyldopa may be used to improve the mother s condition before delivery magnesium sulfate may be used to prevent eclampsia in those with severe disease bedrest and salt intake have not been found to be useful for either treatment or prevention preeclampsia affects 2 – 8 of pregnancies worldwide hypertensive disorders of pregnancy which include preeclampsia are one of the most common causes of death due to pregnancy they resulted in 29 000 deaths in 2013 – down from 37 000 deaths in 1990 preeclampsia usually occurs after 32 weeks however if it occurs earlier it is associated with worse outcomes women who have had preeclampsia are at increased risk of heart disease and stroke later in life the word eclampsia is from the greek term for lightning the first known description of the condition was by hippocrates in the 5 th century bc
hellp syndrome
hellp syndrome is a life threatening obstetric complication usually considered to be a variant or complication of pre eclampsia both conditions usually occur during the later stages of pregnancy or sometimes after childbirth hellp is an abbreviation of the three main features of the syndrome hemolysis elevated liver enzymes low platelet count
eclampsia
eclampsia is the onset of seizures convulsions in a woman with pre eclampsia pre eclampsia is a disorder of pregnancy in which there is high blood pressure and either large amounts of protein in the urine or other organ dysfunction onset may be before during or after delivery most often it is during the second half of pregnancy the seizures are of the tonic – clonic type and typically last about a minute following the seizure there is typically either a period of confusion or coma complications include aspiration pneumonia cerebral hemorrhage kidney failure and cardiac arrest preeclampsia and eclampsia are part of a larger group of conditions known as hypertensive disorders of pregnancy
morning sickness
morning sickness also called nausea and vomiting of pregnancy nvp is a symptom of pregnancy that involves nausea or vomiting despite the name nausea or vomiting can occur at any time during the day typically these symptoms occur between the 4 th and 16 th week of pregnancy about 10 of women still have symptoms after the 20 th week of pregnancy a severe form of the condition is known as hyperemesis gravidarum and results in weight loss
morning sickness also called nausea and vomiting of pregnancy nvp is a symptom of pregnancy that involves nausea or vomiting despite the name nausea or vomiting can occur at any time during the day typically these symptoms occur between the 4 th and 16 th week of pregnancy about 10 of women still have symptoms after the 20 th week of pregnancy a severe form of the condition is known as hyperemesis gravidarum and results in weight loss the cause of morning sickness is unknown but may be related to changing levels of the hormone human chorionic gonadotrophin some have proposed that it may be useful from an evolutionary point of view diagnosis should only occur after other possible causes have been ruled out abdominal pain fever or headaches are typically not present in morning sickness taking prenatal vitamins before pregnancy may decrease the risk specific treatment other than a bland diet may not be required for mild cases if treatment is used the combination of doxylamine and pyridoxine is recommended initially tentative evidence supports the use of ginger for severe cases that have not improved with other measures methylprednisolone may be tried tube feeding may be required in women who are losing weight morning sickness affects about 80 of all pregnant women to some extent about 60 of women have vomiting hyperemesis gravidarum occurs in about 1 6 of pregnancies morning sickness can negatively affect quality of life result in decreased ability to work while pregnant and result in health care expenses generally mild to moderate cases have no effect on the baby most severe cases also have normal outcomes some women choose to have an abortion due to the severity of symptoms complications such as wernicke encephalopathy or esophageal rupture may occur but are very rare
hyperemesis gravidarum
hyperemesis gravidarum hg is a complication of pregnancy that is characterized by severe nausea and vomiting such that weight loss and dehydration occur signs and symptoms may include vomiting several times a day and feeling faint it is more severe than morning sickness often symptoms get better after the 20 th week of pregnancy but may last the entire pregnancy
hyperemesis gravidarum hg is a complication of pregnancy that is characterized by severe nausea and vomiting such that weight loss and dehydration occur signs and symptoms may include vomiting several times a day and feeling faint it is more severe than morning sickness often symptoms get better after the 20 th week of pregnancy but may last the entire pregnancy the exact cause of hyperemesis gravidarum is not known risk factors include the first pregnancy multiple pregnancy obesity prior or family history of hyperemesis gravidarum trophoblastic disorder and a history of an eating disorder the diagnosis is usually made based on the signs and symptoms it has been technically defined as more than three episodes of vomiting per day such that weight loss of 5 or three kilograms has occurred and ketones are present in the urine other potential causes of the symptoms should be excluded including urinary tract infection and high thyroid levels treatment includes drinking fluids and a bland diet recommendations may include electrolyte replacement drinks thiamine and a higher protein diet some women require intravenous fluids with respect to medications pyridoxine or metoclopramide are preferred prochlorperazine dimenhydrinate or ondansetron may be used if these are not effective hospitalization may be required psychotherapy may improve outcomes evidence for acupressure is poor while vomiting in pregnancy has been described as early as 2 000 bc the first clear medically description of hyperemesis gravidarum was in 1852 by antoine dubois hyperemesis gravidarum is estimated to affect 0 3 – 2 0 of pregnant women while previously a common cause of death in pregnancy with proper treatment this is now very rare those affected have a low risk of miscarriage but a higher risk of premature birth some women opt to have an abortion because of the symptoms
gestational diabetes
gestational diabetes also known as gestational diabetes mellitus gdm is when a woman without diabetes develops high blood sugar levels during pregnancy gestational diabetes generally results in few symptoms however it does increase the risk of pre eclampsia depression and requiring a caesarean section babies born to mothers with poorly treated gestational diabetes are at increased risk of being too large having low blood sugar after birth and jaundice if untreated it can also result in a stillbirth long term children are at higher risk of being overweight and developing type 2 diabetes
gestational pemphigoid
gestational pemphigoid or pemphigoid gestationis pg is a dermatosis of pregnancy being an autoimmune blistering skin disease that occurs during pregnancy typically in the second or third trimester and or immediately following pregnancy it was originally called herpes gestationis because of the blistering appearance although it is not associated with the herpes virus
breech birth
a breech birth occurs when a baby is born bottom first instead of head first around 3 5 of pregnant women at term 37 – 40 weeks pregnant will have a breech baby most babies in the breech position are born by a caesarean section because it is seen as safer than being born vaginally
a breech birth occurs when a baby is born bottom first instead of head first around 3 5 of pregnant women at term 37 – 40 weeks pregnant will have a breech baby most babies in the breech position are born by a caesarean section because it is seen as safer than being born vaginally as most breech babies are delivered by caesarean section in developed countries doctors and midwives may lose the skills required to safely assist a women giving birth to a breech baby vaginally delivering all breech babies by caesarean section in developing countries may be very difficult to implement or even impossible as there are not always resources available to provide this service
conjoined twins
conjoined twins are identical twins joined in utero an extremely rare phenomenon the occurrence is estimated to range from 1 in 49 000 births to 1 in 189 000 births with a somewhat higher incidence in southeast asia africa and brazil approximately half are stillborn and an additional one third die within 24 hours most live births are female with a ratio of 3 1 most stillborns are male
conjoined twins are identical twins joined in utero an extremely rare phenomenon the occurrence is estimated to range from 1 in 49 000 births to 1 in 189 000 births with a somewhat higher incidence in southeast asia africa and brazil approximately half are stillborn and an additional one third die within 24 hours most live births are female with a ratio of 3 1 most stillborns are male two contradicting theories exist to explain the origins of conjoined twins the more generally accepted theory is fission in which the fertilized egg splits partially the other theory no longer believed to be the basis of conjoined twinning is fusion in which a fertilized egg completely separates but stem cells which search for similar cells find like stem cells on the other twin and fuse the twins together conjoined twins share a single common chorion placenta and amniotic sac although these characteristics are not exclusive to conjoined twins as there are some monozygotic but non conjoined twins who also share these structures in utero the most famous pair of conjoined twins was chang and eng bunker thai อิน จัน in chan 1811 – 1874 thai brothers born in siam now thailand they traveled with p t barnum s circus for many years and were labeled as the siamese twins chang and eng were joined by a band of flesh cartilage and their fused livers at the torso in modern times they could have been easily separated due to the brothers fame and the rarity of the condition the term siamese twins came to be used as a synonym for conjoined twins
polyhydramnios
polyhydramnios polyhydramnion hydramnios polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac it is seen in about 1 of pregnancies it is typically diagnosed when the amniotic fluid index afi is greater than 24 cm there are two clinical varieties of polyhydramnios chronic polyhydramnios where excess amniotic fluid accumulates gradually acute polyhydramnios where excess amniotic fluid collects rapidly the opposite to polyhydramnios is oligohydramnios a deficiency in amniotic fluid
oligohydramnios
oligohydramnios is a condition in pregnancy characterized by a deficiency of amniotic fluid it is the opposite of polyhydramnios
twin to twin transfusion syndrome
twin to twin transfusion syndrome ttts also known as feto fetal transfusion syndrome ffts and twin oligohydramnios polyhydramnios sequence tops is a complication of disproportionate blood supply resulting in high morbidity and mortality it can affect monochorionic multiples that is multiple pregnancies where two or more fetuses share a chorion and hence a single placenta severe ttts has a 60 – 100 mortality rate
velamentous cord insertion
velamentous cord insertion is an abnormal condition during pregnancy normally the umbilical cord inserts into the middle of the placenta as it develops in velamentous cord insertion the umbilical cord inserts into the fetal membranes choriamniotic membranes then travels within the membranes to the placenta between the amnion and the chorion the exposed vessels are not protected by wharton s jelly and hence are vulnerable to rupture rupture is especially likely if the vessels are near the cervix in which case they may rupture in early labor likely resulting in a stillbirth this is a serious condition called vasa previa not every pregnancy with a velamentous cord insertion results in vasa previa only those in which the blood vessels are near the cervix
placenta accreta
placenta accreta occurs when all or part of the placenta attaches abnormally to the myometrium the muscular layer of the uterine wall three grades of abnormal placental attachment are defined according to the depth of invasion accreta – chorionic villi attach to the myometrium rather than being restricted within the decidua basalis increta – chorionic villi invade into the myometrium percreta – chorionic villi invade through the myometrium
placenta praevia
placenta previa is an obstetric complication in which the placenta is inserted partially or wholly in the lower uterine segment it is a leading cause of antepartum haemorrhage vaginal bleeding it affects approximately 0 4 0 5 of all labours in the last trimester of pregnancy the isthmus of the uterus unfolds and forms the lower segment in a typical pregnancy the placenta does not overlie if the placenta does overlie the lower segment as is the case with placenta previa it may shear off and a small section may bleed
placental abruption
placental abruption also known as abruptio placentae is a complication of pregnancy wherein the placental lining has separated from the uterus of the mother prior to delivery it is the most common pathological cause of late pregnancy bleeding in humans it refers to the abnormal separation after 20 weeks of gestation and prior to birth it occurs on average in 0 5 or 1 in 200 deliveries placental abruption is a significant contributor to maternal mortality worldwide early and skilled medical intervention is needed to ensure a good outcome and this is not available in many parts of the world treatment depends on how serious the abruption is and how far along the woman is in her pregnancy
antepartum haemorrhage
in obstetrics antepartum haemorrhage aph also prepartum hemorrhage is genital bleeding during pregnancy from the 24 th week sometimes defined as from the 20 th week gestational age to term it can be associated with reduced fetal birth weight in regard to treatment it should be considered a medical emergency regardless of whether there is pain and medical attention should be sought immediately as if it is left untreated it can lead to death of the mother and or fetus
braxton hicks contractions
braxton hicks contractions also known as prodromal labor or practice contractions or false labor are sporadic uterine contractions that sometimes start around six weeks into a pregnancy however they are not usually felt until the second trimester or third trimester of pregnancy
preterm birth
preterm birth also known as premature birth is the birth of a baby at less than 37 weeks gestational age these babies are known as preemies or premmies symptoms of preterm labor include uterine contractions which occur more often than every ten minutes or the leaking of fluid from the vagina premature infants are at greater risk for cerebral palsy delays in development hearing problems and sight problems these risks are greater the earlier a baby is born
preterm birth also known as premature birth is the birth of a baby at less than 37 weeks gestational age these babies are known as preemies or premmies symptoms of preterm labor include uterine contractions which occur more often than every ten minutes or the leaking of fluid from the vagina premature infants are at greater risk for cerebral palsy delays in development hearing problems and sight problems these risks are greater the earlier a baby is born the cause of preterm birth is often not known risk factors include diabetes high blood pressure being pregnant with more than one baby being either obese or underweight a number of vaginal infections tobacco smoking and psychological stress among others it is recommended that labor not be medically induced before 39 weeks unless required for other medical reasons the same recommendation applies to cesarean section medical reasons for early delivery include preeclampsia in those at risk the hormone progesterone if taken during pregnancy may prevent preterm birth evidence does not support the usefulness of bed rest it is estimated that at least 75 of preterm infants would survive with appropriate treatment in women who might deliver between 24 and 37 weeks corticosteroids improve outcomes a number of medications including nifedipine may delay delivery so that a mother can be moved to where more medical care is available and the corticosteroids have a greater chance to work once the baby is born care includes keeping the baby warm through skin to skin contact supporting breastfeeding treating infections and supporting breathing preterm birth is the most common cause of death among infants worldwide about 15 million babies are preterm each year 5 to 18 of all deliveries in many countries rates of premature births have increased between the 1990 s and 2010 s complications from preterm births resulted in 0 74 million deaths in 2013 down from 1 57 million in 1990 the chance of survival at less than 23 weeks is close to zero while at 23 weeks it is 15 24 weeks 55 and 25 weeks about 80 the chances of survival without long term difficulties are lower
shoulder presentation
obstructed labour
obstructed labour also known as labour dystocia is when even though the uterus is contracting normally the baby does not exit the pelvis during childbirth due to being physically blocked complications for the baby include not getting enough oxygen which may result in death it increases the risk of the mother getting an infection having uterine rupture or having post partum bleeding long term complications for the mother include obstetrical fistula obstructed labour is said to result in prolonged labour when the active phase of labour is longer than twelve hours
obstructed labour also known as labour dystocia is when even though the uterus is contracting normally the baby does not exit the pelvis during childbirth due to being physically blocked complications for the baby include not getting enough oxygen which may result in death it increases the risk of the mother getting an infection having uterine rupture or having post partum bleeding long term complications for the mother include obstetrical fistula obstructed labour is said to result in prolonged labour when the active phase of labour is longer than twelve hours the main causes of obstructed labour include a large or abnormally positioned baby a small pelvis and problems with the birth canal abnormal positioning includes shoulder dystocia were the anterior shoulder does not pass easily below the pubic bone risk factors for a small pelvis include malnutrition and a lack of exposure to sunlight causing vitamin d deficiency it is also more common in adolescence as the pelvis may not have finished growing problems with the birth canal include a narrow vagina and perineum which may be due to female genital mutilation or tumors a partograph is often used to track labour progression and diagnose problems this combined with physical examination may identify obstructed labour the treatment of obstructed labour may require cesarean section or vacuum extraction with possible surgical opening of the symphysis pubis other measures include keeping the women hydrated and antibiotics if the membranes have been ruptured for more than 18 hours in africa and asia obstructed labor effects between two and five percent of deliveries in 2013 about 5 1 cases of obstructed labour occurred this resulted in 19 000 deaths down from 29 000 deaths in 1990 about 8 of all deaths related to pregnancy most deaths due to this condition occur in the developing world
shoulder dystocia
shoulder dystocia is a specific case of obstructed labour whereby after the delivery of the head the anterior shoulder of the infant cannot pass below or requires significant manipulation to pass below the pubic symphysis it is diagnosed when the shoulders fail to deliver shortly after the fetal head shoulder dystocia is an obstetric emergency and fetal demise can occur if the infant is not delivered due to compression of the umbilical cord within the birth canal it occurs in approximately 0 3 1 of vaginal births
umbilical cord prolapse
umbilical cord prolapse occurs when the umbilical cord comes out of the uterus with or before the presenting part of the fetus it is a relatively rare condition and occurs in fewer than 1 of pregnancies cord prolapse is more common in women who have had rupture of their amniotic sac other risk factors include maternal or fetal factors that prevent the fetus from occupying a normal position in the maternal pelvis such as abnormal fetal lie too much amniotic fluid or a premature or small fetus the concern with cord prolapse is that pressure on the cord from the fetus will cause cord compression that compromises blood flow to the fetus whenever there is a sudden decrease in fetal heart rate or abnormal fetal heart tracing umbilical cord prolapse should be considered due to the poss
perineal tear
in obstetrics a perineal tear is a spontaneous unintended laceration of the skin and other soft tissue structures which in women separate the vagina from the anus perineal tears mainly occur in women as a result of vaginal childbirth which strains the perineum tears vary widely in severity the majority are superficial and require no treatment but severe tears can cause significant bleeding long term pain or dysfunction a perineal tear is distinct from an episiotomy in which the perineum is intentionally incised to facilitate delivery
uterine rupture
uterine rupture is a potentially catastrophic event during childbirth by which the integrity of the myometrial wall is breached in an incomplete rupture the peritoneum is still intact with a complete rupture the contents of the uterus may spill into the peritoneal cavity or the broad ligament a uterine rupture is a life threatening event for mother and baby a uterine rupture typically occurs during active labor but may also develop during late pregnancy uterine dehiscence is a similar condition but involves fewer layers less bleeding and less risk
cephalic presentation
a cephalic presentation or head presentation or head first presentation is a situation at childbirth where the fetus is in a longitudinal lie and the head enters the pelvis first the most common form of cephalic presentation is the vertex presentation where the occiput is the leading part the part that first enters the birth canal all other presentations are abnormal malpresentations which are either more difficult to deliver or not deliverable by natural means
postpartum infections
postpartum infections also known as puerperal infections is any bacterial infection of the female reproductive tract following childbirth or miscarriage signs and symptoms usually include a fever greater than 38 0 ° c 100 4 ° f chills lower abdominal pain and possibly bad smelling vaginal discharge it usually occurs after the first 24 hours and within the first ten days following delivery
air embolism
an air embolism also known as a gas embolism is an embolism or blood vessel blockage caused by one or more bubbles of air or gas in the circulatory system air embolisms may also occur in the xylem of vascular plants especially when suffering from water stress divers can suffer from arterial gas embolisms venous gas embolisms usually get blocked by the lungs and so rarely cause a problem
amniotic fluid embolism
fat embolism
a fat embolism is a type of embolism that is often caused by physical trauma such as fracture of long bones soft tissue trauma and burns
peripartum cardiomyopathy
peripartum cardiomyopathy ppcm is a form of dilated cardiomyopathy that is defined as a deterioration in cardiac function presenting typically between the last month of pregnancy and up to six months postpartum as with other forms of dilated cardiomyopathy ppcm involves systolic dysfunction of the heart with a decrease of the left ventricular ejection fraction ef with associated congestive heart failure and an increased risk of atrial and ventricular arrhythmias thromboembolism blockage of a blood vessel by a blood clot and even sudden cardiac death in essence the heart muscle cannot contract forcefully enough to pump adequate amounts of blood for the needs of the body s vital organs
postpartum thyroiditis
postpartum thyroiditis is a phenomenon observed following pregnancy and may involve hyperthyroidism hypothyroidism or the two sequentially it affects about 5 of all women within a year after giving birth the first phase is typically hyperthyroidism then the thyroid either returns to normal or a woman develops hypothyroidism of those women who experience hypothyroidism associated with postpartum thyroiditis one in five will develop permanent hypothyroidism requiring lifelong treatment
postpartum thyroiditis is a phenomenon observed following pregnancy and may involve hyperthyroidism hypothyroidism or the two sequentially it affects about 5 of all women within a year after giving birth the first phase is typically hyperthyroidism then the thyroid either returns to normal or a woman develops hypothyroidism of those women who experience hypothyroidism associated with postpartum thyroiditis one in five will develop permanent hypothyroidism requiring lifelong treatment postpartum thyroiditis is believed to result from the modifications to the immune system necessary in pregnancy and histologically is a subacute lymphocytic thyroiditis the process is normally self limiting but when conventional antibodies are found there is a high chance of this proceeding to permanent hypothyroidism postpartum thyroiditis is a member of the group of thyroiditis conditions known as resolving thyroiditis
lactation failure
lactation failure or deficiency also known as agalactia or agalactorrhea as well as hypogalactia or hypogalactorrhea is a medical condition in which lactation is insufficient or fails completely due to an inadequacy of breast milk production and or a failure of the milk let down reflex in response to suckling following childbirth resulting in an inability to properly breastfeed
maternal death
maternal death is defined by the world health organization who as the death of a woman while pregnant or within 42 days of termination of pregnancy irrespective of the duration and site of the pregnancy from any cause related to or aggravated by the pregnancy or its management but not from accidental or incidental causes
maternal death is defined by the world health organization who as the death of a woman while pregnant or within 42 days of termination of pregnancy irrespective of the duration and site of the pregnancy from any cause related to or aggravated by the pregnancy or its management but not from accidental or incidental causes the world mortality rate has declined 45 since 1990 but still every day 800 women die from pregnancy or childbirth related causes according to the united nations population fund unfpa this is equivalent to about one woman every two minutes and for every woman who dies 20 or 30 encounter complications with serious or long lasting consequences most of these deaths and injuries are entirely preventable unfpa estimated that 289 000 women died of pregnancy or childbirth related causes in 2013 these causes range from severe bleeding to obstructed labour all of which have highly effective interventions as women have gained access to family planning and skilled birth attendance with backup emergency obstetric care the global maternal mortality ratio has fallen from 380 maternal deaths per 100 000 live births in 1990 to 210 deaths per 100 000 live births in 2013 and many countries halved their maternal death rates in the last 10 years worldwide mortality rates have been decreasing in modern age high rates still exist particularly in impoverished communities with over 85 living in africa and southern asia the effect of a mother s death results in vulnerable families and their infants if they survive childbirth are more likely to die before reaching their second birthday
pruritic urticarial papules and plaques of pregnancy
pruritic urticarial papules and plaques of pregnancy puppp known in united kingdom as polymorphic eruption of pregnancy pep is a chronic hives like rash that strikes some women during pregnancy although extremely annoying for its sufferers because of the itch it presents no long term risk for either the mother or unborn child puppp frequently begins on the abdomen and spreads to the legs feet arms chest and neck puppp s occurs in about 1 in every 200 pregnancies and is not always easy to diagnose front view of abdomen side view of abdomen feet and ankle view
pruritic urticarial papules and plaques of pregnancy puppp known in united kingdom as polymorphic eruption of pregnancy pep is a chronic hives like rash that strikes some women during pregnancy although extremely annoying for its sufferers because of the itch it presents no long term risk for either the mother or unborn child puppp frequently begins on the abdomen and spreads to the legs feet arms chest and neck papules and plaques usually start appearing on the abdomen although not on the umbilicus bellybutton and often spreads to the legs chest underarms etc the face is usually also spared and does not seem to become affected skin distension stretching is a common factor in puppp which is more common in mothers with large fundal measurements and or those who are carrying large babies twins and triplets the papules and plaques often first appear within stretch marks certain studies reveal that this condition is more frequent in women carrying boys although no formal research has been conducted statistics cite that 70 of puppp sufferers deliver boys some researchers think it has to do with male dna interacting with the mother s body causing irritation puppp s occurs in about 1 in every 200 pregnancies and is not always easy to diagnose front view of abdomen side view of abdomen feet and ankle view
placental insufficiency
single umbilical artery
occasionally there is only the one single umbilical artery sua present in the umbilical cord approximately this affects between 1 in 100 and 1 in 500 pregnancies making it the most common umbilical abnormality it is more common in multiple births its cause is not known it may be associated with edwards syndrome
amniotic band constriction
amniotic band constriction also known as amniotic band syndrome adam complex amniotic band sequence congenital constriction bands and pseudoainhum is a congenital disorder caused by entrapment of fetal parts usually a limb or digits in fibrous amniotic bands while in utero
small for gestational age
small for gestational age sga embryos are those who are smaller in size than normal for the gestational age most commonly defined as a weight below the 10 th percentile for the gestational age
intrauterine growth restriction
intrauterine growth retardation also known as intrauterine growth restriction iugr refers to poor growth of a fetus while in the mother s womb during pregnancy the causes can be many but most often involve poor maternal nutrition or lack of adequate oxygen supply to the fetus at least 60 of the 4 million neonatal deaths that occur worldwide every year are associated with low birth weight lbw caused by intrauterine growth restriction iugr preterm delivery and genetic chromosomal abnormalities demonstrating that under nutrition is already a leading health problem at birth
intrauterine growth retardation also known as intrauterine growth restriction iugr refers to poor growth of a fetus while in the mother s womb during pregnancy the causes can be many but most often involve poor maternal nutrition or lack of adequate oxygen supply to the fetus at least 60 of the 4 million neonatal deaths that occur worldwide every year are associated with low birth weight lbw caused by intrauterine growth restriction iugr preterm delivery and genetic chromosomal abnormalities demonstrating that under nutrition is already a leading health problem at birth intrauterine growth restriction can result in a baby being small for gestational age sga which is most commonly defined as a weight below the 10 th percentile for the gestational age at the end of pregnancy it can result in a low birth weight
large for gestational age
large for gestational age lga is an indication of high prenatal growth rate lga is often defined as a weight length or head circumference that lies above the 90 th percentile for that gestational age however it has been suggested that the definition be restricted to infants with birth weights greater than the 97 th percentile 2 standard deviations above the mean as this more accurately describes infants who are at greatest risk for perinatal morbidity and mortality
birth trauma physical
birth trauma bt refers to damage of the tissues and organs of a newly delivered child often as a result of physical pressure or trauma during childbirth the term also encompasses the long term consequences often of a cognitive nature of damage to the brain or cranium medical study of birth trauma dates to the 16 th century and the morphological consequences of mishandled delivery are described in renaissance era medical literature birth injury occupies a unique area of concern and study in the medical canon in icd 10 birth trauma occupied 49 individual codes p 10 р 15
caput succedaneum
caput succedaneum is a neonatal condition involving a serosanguinous subcutaneous extraperiosteal fluid collection with poorly defined margins caused by the pressure of the presenting part of the scalp against the dilating cervix tourniquet effect of the cervix during delivery it involves bleeding below the scalp and above the periosteum
cephalohematoma
a cephalhaematoma british english or cephalhematoma american english is a hemorrhage of blood between the skull and the periosteum of a newborn baby secondary to rupture of blood vessels crossing the periosteum because the swelling is subperiosteal its boundaries are limited by the individual bones in contrast to a caput succedaneum
infant respiratory distress syndrome
infant respiratory distress syndrome irds also called neonatal respiratory distress syndrome respiratory distress syndrome of newborn or increasingly surfactant deficiency disorder sdd and previously called hyaline membrane disease hmd is a syndrome in premature infants caused by developmental insufficiency of pulmonary surfactant production and structural immaturity in the lungs it can also be a consequence of neonatal infection it can also result from a genetic problem with the production of surfactant associated proteins irds affects about 1 of newborn infants and is the leading cause of death in preterm infants the incidence decreases with advancing gestational age from about 50 in babies born at 26 – 28 weeks to about 25 at 30 – 31 weeks the syndrome is more frequent
meconium aspiration syndrome
meconium aspiration syndrome mas also known as neonatal aspiration of meconium is a medical condition affecting newborn infants it occurs when meconium is present in their lungs during or before delivery meconium is the first stool of an infant composed of materials ingested during the time the infant spends in the uterus
meconium aspiration syndrome mas also known as neonatal aspiration of meconium is a medical condition affecting newborn infants it occurs when meconium is present in their lungs during or before delivery meconium is the first stool of an infant composed of materials ingested during the time the infant spends in the uterus meconium is normally stored in the infant s intestines until after birth but sometimes often in response to fetal distress and hypoxia it is expelled into the amniotic fluid prior to birth or during labor if the baby then inhales the contaminated fluid respiratory problems may occur
congenital lobar emphysema
congenital lobar emphysema cle also known as congenital lobar overinflation and infantile lobar emphysema is a neonatal condition associated with enlarged air spaces in the lungs of newborn children it is usually diagnosed around the time of birth or in the first 6 months of life occurring more often in boys than girls cle affects the upper lung lobes more than the lower lobes and the left lung more often than the right lung although cle may be caused by abnormal development of airways bronchi for example or compression of airways by nearby tissues no cause is identified in half of cases
bronchopulmonary dysplasia
bronchopulmonary dysplasia bpd formerly chronic lung disease of infancy is a chronic lung disorder of infants and children first described in 1967 it is more common in infants with low birth weight and those who receive prolonged mechanical ventilation to treat respiratory distress syndrome rds it results in significant morbidity and mortality the definition of bpd has continued to evolve since then primarily due to changes in the population such as more survivors at earlier gestational ages and improved neonatal management including surfactant antenatal glucocorticoid therapy and less aggressive mechanical ventilation
congenital rubella syndrome
congenital rubella syndrome crs can occur in a developing fetus of a pregnant woman who has contracted rubella usually in the first trimester if infection occurs 0 – 28 days before conception the infant has a 43 risk of being affected if the infection occurs 0 – 12 weeks after conception the risk increases to 51 if the infection occurs 13 – 26 weeks after conception the risk is 23 of the infant being affected by the disease infants are not generally affected if rubella is contracted during the third trimester or 26 – 40 weeks after conception problems rarely occur when rubella is contracted by the mother after 20 weeks of gestation and continues to disseminate the virus after birth
congenital rubella syndrome crs can occur in a developing fetus of a pregnant woman who has contracted rubella usually in the first trimester if infection occurs 0 – 28 days before conception the infant has a 43 risk of being affected if the infection occurs 0 – 12 weeks after conception the risk increases to 51 if the infection occurs 13 – 26 weeks after conception the risk is 23 of the infant being affected by the disease infants are not generally affected if rubella is contracted during the third trimester or 26 – 40 weeks after conception problems rarely occur when rubella is contracted by the mother after 20 weeks of gestation and continues to disseminate the virus after birth it was discovered in 1941 by australian norman mcalister gregg the molecular basis for the causation of congenital rubella syndrome are not yet completely clear but in vitro studies with cell lines showed that rubella virus has an apoptotic effect on certain cell types there is evidence for a p 53 dependent mechanism
neonatal herpes simplex
neonatal herpes simplex is a rare but serious condition usually caused by vertical transmission of herpes simplex virus from mother to newborn around 1 in every 3 500 babies in the united states contract the infection
haemorrhagic disease of the newborn
hemolytic disease of the newborn
hemolytic disease of the newborn also known as hemolytic disease of the fetus and newborn hdn hdfn or erythroblastosis fetalis is an alloimmune condition that develops in a fetus when the igg molecules one of the five main types of antibodies produced by the mother pass through the placenta among these antibodies are some which attack antigens on the red blood cells in the fetal circulation breaking down and destroying the cells hemolysis the fetus can develop reticulocytosis and anemia this fetal disease ranges from mild to very severe and fetal death from heart failure hydrops fetalis can occur when the disease is moderate or severe many erythroblasts immature red blood cells are present in the fetal blood and so these forms of the disease can be called erythroblast
hemolytic disease of the newborn also known as hemolytic disease of the fetus and newborn hdn hdfn or erythroblastosis fetalis is an alloimmune condition that develops in a fetus when the igg molecules one of the five main types of antibodies produced by the mother pass through the placenta among these antibodies are some which attack antigens on the red blood cells in the fetal circulation breaking down and destroying the cells hemolysis the fetus can develop reticulocytosis and anemia this fetal disease ranges from mild to very severe and fetal death from heart failure hydrops fetalis can occur when the disease is moderate or severe many erythroblasts immature red blood cells are present in the fetal blood and so these forms of the disease can be called erythroblastosis fetalis or erythroblastosis foetalis hdfn represents a breach of immune privilege for the fetus or some other form of impairment of the immune tolerance of pregnancy various types of hdfn are classified by which alloantigen provokes the response in order of incidence the types include abo anti rhd anti rhe anti rhc anti rhe anti rhc multiantigen combinations and anti kell
rh disease
rh disease also known as rhesus isoimmunisation rh d disease rhesus incompatibility rhesus disease rhd hemolytic disease of the newborn rhesus d hemolytic disease of the newborn or rhd hdn is a type of hemolytic disease of the newborn hdn the disease ranges from mild to severe and typically occurs only in some second or subsequent pregnancies of rh negative women where the fetus s father is rh positive leading to a rh pregnancy during birth the mother may be exposed to the infant s blood and this causes the development of antibodies which may affect the health of subsequent rh pregnancies in mild cases the fetus may have mild anaemia with reticulocytosis in moderate or severe cases the fetus may have a more marked anaemia and erythroblastosis fetalis hemolytic disea
hydrops fetalis
kernicterus
kernicterus is a bilirubin induced brain dysfunction bilirubin is a highly neurotoxic substance that may become elevated in the serum a condition known as hyperbilirubinemia hyperbilirubinemia may cause bilirubin to accumulate in the gray matter of the central nervous system potentially causing irreversible neurological damage depending on the level of exposure the effects range from clinically unnoticeable to severe brain damage and even death newborns are especially vulnerable to hyperbilirubinemia induced neurological damage and therefore must be carefully monitored for alterations in their serum bilirubin levels
neonatal jaundice
neonatal jaundice or neonatal hyperbilirubinemia or neonatal icterus from the greek word ἴκτερος attributive adjective icteric is a yellowing of the skin and other tissues of a newborn infant a bilirubin level of more than 85 μmol l 5 mg dl leads to a jaundiced appearance in neonates whereas in adults a level of 34 μmol l 2 mg dl is needed for this to occur in newborns jaundice is detected by blanching the skin with pressure applied by a finger so that it reveals underlying skin and subcutaneous tissue jaundiced newborns have yellow discoloration of the white part of the eye and yellowing of the face extending down onto the chest
neonatal jaundice or neonatal hyperbilirubinemia or neonatal icterus from the greek word ἴκτερος attributive adjective icteric is a yellowing of the skin and other tissues of a newborn infant a bilirubin level of more than 85 μmol l 5 mg dl leads to a jaundiced appearance in neonates whereas in adults a level of 34 μmol l 2 mg dl is needed for this to occur in newborns jaundice is detected by blanching the skin with pressure applied by a finger so that it reveals underlying skin and subcutaneous tissue jaundiced newborns have yellow discoloration of the white part of the eye and yellowing of the face extending down onto the chest neonatal jaundice can make the newborn sleepy and interfere with feeding extreme jaundice can cause permanent brain damage from kernicterus in neonates the yellow discoloration of the skin is first noted in the face and as the bilirubin level rises proceeds caudal to the trunk and then to the extremities this condition is common in newborns affecting over half 50 – 60 of all babies in the first week of life infants whose palms and soles are yellow have serum bilirubin level over 255 μmol l 15 mg dl more serious level studies have shown that trained examiners assessment of levels of jaundice show moderate agreement with icterometer bilirubin measurements in infants jaundice can be measured using invasive or non invasive methods
neonatal alloimmune thrombocytopenia
neonatal alloimmune thrombocytopenia naitp or nait or natp or nat for short or fetal and neonatal alloimmune thrombocytopenia fnait feto maternal alloimmune thrombocytopenia fmaitp or fmait is a disease that affects fetuses and newborns in which the platelet count is decreased a state known as thrombocytopenia platelet antigens are inherited from both mother and father fnait is caused by antibodies specific for platelet antigens inherited from the father but which are absent in the mother fetomaternal transfusions or fetomaternal hemorrhage results in the recognition of these antigens by the mother s immune system as non self with the subsequent generation of allo reactive antibodies which cross the placenta nait hence is caused by transplacental passage of maternal plate
neonatal alloimmune thrombocytopenia naitp or nait or natp or nat for short or fetal and neonatal alloimmune thrombocytopenia fnait feto maternal alloimmune thrombocytopenia fmaitp or fmait is a disease that affects fetuses and newborns in which the platelet count is decreased a state known as thrombocytopenia platelet antigens are inherited from both mother and father fnait is caused by antibodies specific for platelet antigens inherited from the father but which are absent in the mother fetomaternal transfusions or fetomaternal hemorrhage results in the recognition of these antigens by the mother s immune system as non self with the subsequent generation of allo reactive antibodies which cross the placenta nait hence is caused by transplacental passage of maternal platelet specific alloantibody and rarely human leukocyte antigen hla allo antibodies which are expressed by platelets to fetuses whose platelets express the corresponding antigens nait occurs in somewhere between 1 800 and 1 5000 live births more recent studies of nait seem to indicate that it occurs in around 1 600 live births in the caucasian population
necrotizing enterocolitis
meconium peritonitis
meconium peritonitis refers to rupture of the bowel prior to birth resulting in fetal stool meconium escaping into the surrounding space peritoneum leading to inflammation peritonitis despite the bowel rupture many infants born after meconium peritonitis in utero have normal bowels and have no further issues infants with cystic fibrosis are at increased risk for meconium peritonitis
erythema toxicum neonatorum
erythema toxicum neonatorum also known as erythema toxicum urticaria neonatorum and toxic erythema of the newborn is a common rash in neonates it appears in up to half of newborns carried to term usually between day 2 – 5 after birth it does not occur outside the neonatal period
periventricular leukomalacia
periventricular leukomalacia pvl is a form of white matter brain injury characterized by the necrosis more often coagulation of white matter near the lateral ventricles it can affect newborns and less commonly fetuses premature infants are at the greatest risk of the disorder affected individuals generally exhibit motor control problems or other developmental delays and they often develop cerebral palsy or epilepsy later in life
gray baby syndrome
hypertonia
hypertonia is a term sometimes used synonymously with spasticity in the literature surrounding damage to the central nervous system namely upper motor neuron lesions impaired ability of damaged motor neurons to regulate descending pathways gives rise to disordered spinal reflexes increased excitability of muscle spindles and decreased synaptic inhibition these consequences result in abnormally increased muscle tone of symptomatic muscles some authors suggest that the current definition for spasticity the velocity dependent over activity of the stretch reflex is not sufficient as it fails to take into account patients exhibiting increased muscle tone in the absence of stretch reflex over activity they instead suggest that “ reversible hypertonia ” is more appropriate and represents a
hypertonia is a term sometimes used synonymously with spasticity in the literature surrounding damage to the central nervous system namely upper motor neuron lesions impaired ability of damaged motor neurons to regulate descending pathways gives rise to disordered spinal reflexes increased excitability of muscle spindles and decreased synaptic inhibition these consequences result in abnormally increased muscle tone of symptomatic muscles some authors suggest that the current definition for spasticity the velocity dependent over activity of the stretch reflex is not sufficient as it fails to take into account patients exhibiting increased muscle tone in the absence of stretch reflex over activity they instead suggest that “ reversible hypertonia ” is more appropriate and represents a treatable condition that is responsive to various therapy modalities like drug and or physical therapy symptoms associated with central nervous systems disorders are classified into positive and negative categories positive symptoms include those that increase muscle activity through hyper excitability of the stretch reflex i e rigidity and spasticity where negative symptoms include those of insufficient muscle activity i e weakness and reduced motor function often the two classifications are thought to be separate entities of a disorder however some authors propose that they may be closely related
stillbirth
stillbirth is typically defined as fetal death at or after 20 to 28 weeks of pregnancy it results in a baby born without signs of life a stillbirth can result in the feeling of guilt in the mother the term is in contrast to miscarriage which is an early pregnancy loss and live birth where the baby is born alive even if it dies shortly thereafter
stillbirth is typically defined as fetal death at or after 20 to 28 weeks of pregnancy it results in a baby born without signs of life a stillbirth can result in the feeling of guilt in the mother the term is in contrast to miscarriage which is an early pregnancy loss and live birth where the baby is born alive even if it dies shortly thereafter often the cause is unknown causes may include pregnancy complications such as preeclampsia and birth complications problems with the placenta or umbilical cord birth defects infections such as malaria and poor health in the mother risk factors include a mother s age over 35 first pregnancy smoking drug use use of assisted reproductive technology stillbirth maybe suspected when no fetal movement is felt confirmation is by ultrasound worldwide prevention of most stillbirths is possible with improved health systems about half of stillbirths occur during childbirth with this being more common in the developing than developed world otherwise depending on how far along the pregnancy is medications may be used to start labor or a type of surgery known as dilation and evacuation may be carried out following a stillbirth women are at higher risk of another one however most subsequent pregnancies do not have similar problems depression financial loss and family breakdown are known complications worldwide in 2015 there were about 2 6 million stillbirths that occurred after 28 weeks of pregnancy about 1 for every 45 births they occur most commonly in the developing world particularly south asia and sub saharan africa in the united states for every 167 births there is one stillbirth rates of stillbirth in the united states have decreased by about 2 3 rds since the 1950 s
neural tube defect
neural tube defects ntds are a group of conditions in which an opening in the spinal cord or brain remains from early in human development in the 3 rd week of pregnancy called gastrulation specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube when the neural tube does not close completely an ntd develops specific types include spina bifida which affects the spine anencephaly which results in little to no brain encephalocele which affects the skull and iniencephaly which results in severe neck problems
acrania
acrania is a rare congenital disorder that occurs in the human fetus in which the flat bones in the cranial vault are either completely or partially absent the cerebral hemispheres develop completely but abnormally the condition is frequently though not always associated with anencephaly the fetus is said to suffer from acrania if it meets the following criteria the fetus should have a perfectly normal facial bone a normal cervical column but without the fetal skull and a volume of brain tissue equivalent to at least one third of the normal brain size
anencephaly
anencephaly is the absence of a major portion of the brain skull and scalp that occurs during embryonic development it is a cephalic disorder that results from a neural tube defect that occurs when the rostral head end of the neural tube fails to close usually between the 23 rd and 26 th day following conception strictly speaking the greek term translates as no in head that is totally lacking the inside part of the head i e the brain but it is accepted that children born with this disorder usually only lack a telencephalon the largest part of the brain consisting mainly of the cerebral hemispheres including the neocortex which is responsible for cognition the remaining structure is usually covered only by a thin layer of membrane — skin bone meninges etc are all lackin
encephalocele
encephalocele sometimes known as cranium bifidum is a neural tube defect characterized by sac like protrusions of the brain and the membranes that cover it through openings in the skull these defects are caused by failure of the neural tube to close completely during fetal development encephaloceles cause a groove down the middle of the skull or between the forehead and nose or on the back side of the skull the severity of encephalocele varies depending on its location
microcephaly
microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head microcephaly may be present at birth or it may develop in the first few years of life often people with the disorder have an intellectual disability poor motor function poor speech abnormal facial features seizures and dwarfism
microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head microcephaly may be present at birth or it may develop in the first few years of life often people with the disorder have an intellectual disability poor motor function poor speech abnormal facial features seizures and dwarfism the disorder may stem from a wide variety of conditions that cause abnormal growth of the brain or from syndromes associated with chromosomal abnormalities a homozygous mutation in one of the microcephalin genes causes primary microcephaly it serves as an important neurological indication or warning sign but no uniformity exists in its definition it is usually defined as a head circumference hc more than two standard deviations below the mean for age and sex some academics advocate defining it as head circumference more than three standard deviations below the mean for the age and sex there is no specific treatment that returns the head size to normal in general life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor occasionally some will grow normally and develop normal intelligence
dandy – walker syndrome
dandy – walker syndrome dws is a rare group of congenital human brain malformations there are three subtypes which affect multiple organs to varying degrees but the fundamental abnormalities involve the cerebellum which controls muscle coordination the adjacent fourth ventricle is often affected which can alter the flow of cerebrospinal fluid increase intracranial pressure and lead to multiple other brain function problems the degree of disability varies but is typically lifelong treatment may involve physical therapy special education or surgical placement of a cerebral shunt it is named for walter dandy and arthur earl walker
aicardi syndrome
holoprosencephaly
holoprosencephaly hpe once known as arhinencephaly is a cephalic disorder in which the prosencephalon the forebrain of the embryo fails to develop into two hemispheres normally the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy the condition also occurs in other species the condition can be mild or severe according to the national institute of neurological disorders and stroke ninds in most cases of holoprosencephaly the malformations are so severe that babies die before birth
joubert syndrome
lissencephaly
septo optic dysplasia
septo optic dysplasia sod de morsier syndrome is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve pituitary gland dysfunction and absence of the septum pellucidum a midline part of the brain two of these features need to be present for a clinical diagnosis — only 30 of patients have all three neuroradiologically intracranial malformations associated with septo optic dysplasia include agenesis of the septum pellucidum schizencephaly and lobar holoprosencephaly
cortical dysplasia
focal cortical dysplasia fcd is a congenital abnormality of brain development where the neurons in an area of the brain failed to migrate in the proper formation in utero focal cortical dysplasia is a common cause of intractable epilepsy in children and is a frequent cause of epilepsy in adults there are several subtypes of fcd including type 1 a 1 b 2 a 2 b 3 a 3 b and 3 c each with distinct histopathological features all forms of focal cortical dysplasia lead to disorganization of the normal structure of the cerebral cortex type 1 fcd exhibits subtle alterations in cortical lamination type 2 a fcd exhibits neurons that are larger than normal that are called cytomegalic dysmorphic neurons cdn fcd type 2 b exhibits complete loss of laminar structure and the presence of cdn and enl
schizencephaly
schizencephaly from greek skhizein meaning to split and enkephalos meaning brain is a rare birth defect characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater these clefts can occur bilaterally or unilaterally common clinical features of this malformation include epilepsy motor deficits and psychomotor retardation
spina bifida
spina bifida latin split spine is a birth defect where there is incomplete closing of the backbone and membranes around the spinal cord there are three main types spina bifida occulta meningocele and myelomeningocele the most common location is the lower back but in rare cases it may be the middle back or neck occulta has no or only mild signs signs of occulta may include a hairy patch dimple dark spot or swelling on the back at the site of the gap in the spine meningocele typically causes mild problems with a sac of fluid present at the gap in the spine myelomeningocele also known as open spina bifida is the most severe form associated problems include poor ability to walk problems with bladder or bowel control hydrocephalus a tethered spinal cord and latex allerg
diastematomyelia
diastematomyelia occasionally diastomyelia is a congenital disorder in which a part of the spinal cord is split usually at the level of the upper lumbar vertebra diastematomyelia is a rare congenital anomaly that results in the splitting of the spinal cord in a longitudinal sagittal direction females are affected much more commonly than males this condition occurs in the presence of an osseous bone cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords when the split does not reunite distally to the spur the condition is referred to as a diplomyelia or true duplication of the spinal cord
tethered spinal cord syndrome
tethered cord syndrome tcs or occult spinal dysraphism sequence refers to a group of neurological disorders that relate to malformations of the spinal cord various forms include tight filum terminale lipomeningomyelocele split cord malformations diastematomyelia dermal sinus tracts dermoids
arnold – chiari malformation
chiari malformation also known as arnold – chiari malformation is a malformation of the skull it consists of a downward displacement of the cerebellar tonsils through the foramen magnum the opening at the base of the skull sometimes causing non communicating hydrocephalus as a result of obstruction of cerebrospinal fluid csf outflow the cerebrospinal fluid outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain it can cause headaches fatigue muscle weakness difficulty swallowing sometimes accompanied by gagging choking and vomiting dizziness nausea tinnitus impaired coordination neck pain unsteady gait problems with balance poor hand coordination fine motor skills numbness and tingling of the hands and feet and speech
marcus gunn phenomenon
marcus gunn phenomenon also known as marcus gunn jaw winking or trigemino oculomotor synkinesis is an autosomal dominant condition with incomplete penetrance in which nursing infants will have rhythmic upward jerking of their upper eyelid this condition is characterized as a synkinesis when two or more muscles that are independently innervated have either simultaneous or coordinated movements
distichia
a distichia is an eyelash that arises from an abnormal spot on the eyelid this abnormality attributed to a genetic mutation is known to affect dogs and humans distichiae the abnormal eyelash usually exit from the duct of the meibomian gland at the eyelid margin they are usually multiple and sometimes more than one arises from a duct they can affect either the upper or lower eyelid and are usually bilateral the lower eyelids of dogs usually have no eyelashes
a distichia is an eyelash that arises from an abnormal spot on the eyelid this abnormality attributed to a genetic mutation is known to affect dogs and humans distichiae the abnormal eyelash usually exit from the duct of the meibomian gland at the eyelid margin they are usually multiple and sometimes more than one arises from a duct they can affect either the upper or lower eyelid and are usually bilateral the lower eyelids of dogs usually have no eyelashes distichiae usually cause no symptoms because the lashes are soft but they can irritate the eye and cause tearing squinting inflammation and corneal ulcers and scarring treatment options include manual removal electrolysis electrocautery cryotherapy and surgery
coloboma
a coloboma from the greek koloboma meaning defect is a hole in one of the structures of the eye such as the iris retina choroid or optic disc the hole is present from birth and can be caused when a gap called the choroid fissure which is present during early stages of prenatal development fails to close up completely before a child is born the classical description in medical literature is of a key hole shaped defect a coloboma can occur in one eye unilateral or both eyes bilateral most cases of coloboma affect only the iris people with coloboma may have no vision problems or may be blind depending on severity it affects less than one in every 10 000 births
anophthalmia
anophthalmia greek ανόφθαλμος without eye is the medical term for the absence of one or both eyes both the globe human eye and the ocular tissue are missing from the orbit the absence of the eye will cause a small bony orbit a constricted mucosal socket short eyelids reduced palpebral fissure and malar prominence genetic mutations chromosomal abnormalities and prenatal environment can all cause anophthalmia anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities it can also be associated with other syndromes
microphthalmia
microphthalmia greek μικρός micros small ὀφθαλμός ophthalmos eye also referred as microphthalmos is a developmental disorder of the eye in which one unilateral microphthalmia or both bilateral microphthalmia eyes are abnormally small and have anatomic malformations it is different from nanophthalmos in which the eye is small in size but has no anatomical alterations
aniridia
aniridia is the absence of the iris usually involving both eyes it can be congenital or caused by a penetrant injury isolated aniridia is a congenital disorder which is not limited to a defect in iris development but is a panocular condition with macular and optic nerve hypoplasia cataract and corneal changes vision may be severely compromised and the disorder is frequently associated with a number of ocular complications nystagmus amblyopia buphthalmos and cataract aniridia in some individuals occurs as part of a syndrome such as wagr syndrome kidney nephroblastoma wilms tumour genitourinary anomalies and intellectual disability or gillespie syndrome cerebellar ataxia
heterochromia iridum
in anatomy heterochromia ancient greek ἕτερος héteros different χρώμα chróma color is a difference in coloration usually of the iris but also of hair or skin heterochromia is a result of the relative excess or lack of melanin a pigment it may be inherited or caused by genetic mosaicism chimerism disease or injury
hydrophthalmos
hydrophthalmos is a congenital form of glaucoma
keratoglobus
keratoglobus from greek kerato horn cornea and latin globus round is a degenerative non inflammatory disorder of the eye in which structural changes within the cornea cause it to become extremely thin and change to a more globular shape than its normal gradual curve it causes corneal thinning primarily at the margins resulting in a spherical slightly enlarged eye it is sometimes equated with megalocornea
norrie disease
norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness in addition to the congenital ocular symptoms some patients suffer from a progressive hearing loss starting mostly in their 2 nd decade of life while another portion may be mentally challenged
accessory auricle
an accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear
microtia
microtia is a congenital deformity where the pinna external ear is underdeveloped a completely undeveloped pinna is referred to as anotia because microtia and anotia have the same origin it can be referred to as microtia anotia microtia can be unilateral one side only or bilateral affecting both sides microtia occurs in 1 out of about 8 000 – 10 000 births in unilateral microtia the right ear is most commonly affected it may occur as a complication of taking accutane isotretinoin during pregnancy
congenital heart defect
congenital heart defect chd also known as a congenital heart anomaly or congenital heart disease is a problem in the structure of the heart that is present at birth signs and symptoms depend on the specific type of problem symptoms can vary from none to life threatening when present they may include rapid breathing bluish skin poor weight gain and feeling tired it does not cause chest pain most congenital heart problems do not occur with other diseases complications that can result from heart defects include heart failure
persistent truncus arteriosus
double outlet right ventricle
transposition of the great vessels
levo transposition of the great arteries
levo transposition of the great arteries l transposition of the great arteries levo tga or l tga also commonly referred to as congenitally corrected transposition of the great arteries cc tga is an acyanotic congenital heart defect chd in which the primary arteries the aorta and the pulmonary artery are transposed with the aorta anterior and to the left of the pulmonary artery the morphological left and right ventricles with their corresponding atrioventricular valves are also transposed
levo transposition of the great arteries l transposition of the great arteries levo tga or l tga also commonly referred to as congenitally corrected transposition of the great arteries cc tga is an acyanotic congenital heart defect chd in which the primary arteries the aorta and the pulmonary artery are transposed with the aorta anterior and to the left of the pulmonary artery the morphological left and right ventricles with their corresponding atrioventricular valves are also transposed use of the term corrected has been disputed by many due to the frequent occurrence of other abnormalities and or acquired disorders in l tga patients in segmental analysis this condition is described as atrioventricular discordance ventricular inversion with ventriculoarterial discordance l tga is often referred to simply as transposition of the great arteries tga however tga is a more general term which may also refer to dextro transposition of the great arteries d tga another term commonly used to refer to both l tga and d tga is transposition of the great vessels tgv although this term can have an even broader meaning than tga
ventricular septal defect
a ventricular septal defect vsd is a defect in the ventricular septum the wall dividing the left and right ventricles of the heart the extent of the opening may vary from pin size to complete absence of the ventricular septum creating one common ventricle the ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes membranous ventricular septal defects are more common than muscular ventricular septal defects and are the most common congenital cardiac anomaly
atrial septal defect
atrial septal defect asd is a congenital heart defect in which blood flows between the atria upper chambers of the heart normally the atria are separated by a dividing wall the interatrial septum if this septum is defective or absent then oxygen rich blood can flow directly from the left side of the heart to mix with the oxygen poor blood in the right side of the heart or vice versa this can lead to lower than normal oxygen levels in the arterial blood that supplies the brain organs and tissues however an asd may not produce noticeable signs or symptoms especially if the defect is small
atrioventricular septal defect
tetralogy of fallot
tetralogy of fallot tof is a congenital heart defect that is present at birth symptoms include episodes of bluish color to the skin when affected babies cry or have a bowel movement they may develop a tet spell where they turn very blue have a hard time breathing become limp and occasionally lose consciousness other symptoms may include a heart murmur finger clubbing and easy tiring with breastfeeding
eisenmenger s syndrome
eisenmenger s syndrome or es eisenmenger s reaction eisenmenger physiology or tardive cyanosis is defined as the process in which a long standing left to right cardiac shunt caused by a congenital heart defect typically by a ventricular septal defect atrial septal defect or less commonly patent ductus arteriosus causes pulmonary hypertension and eventual reversal of the shunt into a cyanotic right to left shunt because of the advent of fetal screening with echocardiography early in life the incidence of heart defects progressing to eisenmenger s has decreased
tricuspid atresia
tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve therefore there is an absence of right atrioventricular connection this leads to a hypoplastic undersized or absent right ventricle this defect is contracted during prenatal development when the heart does not finish developing it causes the heart to be unable to properly oxygenate the rest of the blood in the body because of this the body does not have enough oxygen to live so other defects must occur to maintain blood flow because of the lack of an a v connection an atrial septal defect asd must be present to fill the left ventricle with blood also since there is a lack of a right ventricle there must be a way to pump blood into the pulmonary arteries and th
ebstein s anomaly
ebstein s anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced towards the apex of the right ventricle of the heart
hypoplastic left heart syndrome
hypoplastic left heart syndrome hlhs is a rare congenital heart defect in which the left heart is severely underdeveloped the international working group for mapping and coding of nomenclatures for paediatric and congenital heart disease defined hlhs as
hypoplastic left heart syndrome hlhs is a rare congenital heart defect in which the left heart is severely underdeveloped the international working group for mapping and coding of nomenclatures for paediatric and congenital heart disease defined hlhs as a spectrum of cardiac malformations with normally aligned great arteries without a common atrioventricular junction characterized by underdevelopment of the left heart with significant hypoplasia of the left ventricle including atresia stenosis or hypoplasia of the aortic or mitral valve or both valves and hypoplasia of the ascending aorta and aortic arch — tchervenkov et al p 344
dextrocardia
ectopia cordis
ectopia cordis greek away out of place latin heart is a congenital malformation in which the heart is abnormally located either partially or totally outside of the thorax the ectopic heart can be found along a spectrum of anatomical locations including the neck chest or abdomen in most cases the heart protrudes outside the chest through a split sternum
patent ductus arteriosus
patent ductus arteriosus pda is a condition wherein the ductus arteriosus fails to close after birth early symptoms are uncommon but in the first year of life include increased work of breathing and poor weight gain an uncorrected pda may lead to congestive heart failure with increasing age
coarctation of the aorta
coarctation of the aorta coa or coao also called aortic narrowing is a congenital condition whereby the aorta is narrow usually in the area where the ductus arteriosus ligamentum arteriosum after regression inserts the word “ coarctation ” means narrowing coarctations are most common in the aortic arch the arch may be small in babies with coarctations other heart defects may also occur when coarctation is present typically occurring on the left side of the heart when a patient has a coarctation the left ventricle has to work harder since the aorta is narrowed the left ventricle must generate a much higher pressure than normal in order to force enough blood through the aorta to deliver blood to the lower part of the body if the narrowing is severe enough the left ventricle m
interrupted aortic arch
interrupted aortic arch is a very rare heart defect affecting 3 per million live births in which the aorta is not completely developed there is a gap between the ascending and descending thoracic aorta in a sense it is the complete form of a coarctation of the aorta almost all patients also have other cardiac anomalies including a ventricular septal defect vsd aorto pulmonary window and truncus arteriosus interrupted aortic arch is often associated with digeorge syndrome
pulmonary atresia
pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop the valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs the pulmonary valve is located on the right side of the heart between the right ventricle and pulmonary artery in a normal functioning heart the opening to the pulmonary valve has three flaps that open and close
anomalous pulmonary venous connection
anomalous pulmonary venous connection or anomalous pulmonary venous drainage or anomalous pulmonary venous return is a congenital defect of the pulmonary veins
arteriovenous malformation
arteriovenous malformation avm is an abnormal connection between arteries and veins bypassing the capillary system this vascular anomaly is widely known because of its occurrence in the central nervous system but can appear in any location although many avms are asymptomatic they can cause intense pain or bleeding or lead to other serious medical problems
aberrant subclavian artery
cerebral arteriovenous malformation
a cerebral arteriovenous malformation avm is an abnormal connection between the arteries and veins in the brain
choanal atresia
laryngomalacia
laryngomalacia literally soft larynx is the most common cause of stridor in infancy in which the soft immature cartilage of the upper larynx collapses inward during inhalation causing airway obstruction it can also be seen in older patients especially those with neuromuscular conditions resulting in weakness of the muscles of the throat however the infantile form is much more common laryngomalacia is one of the most common laryngeal congenital disease in infancy and public education about the signs and symptoms of the disease is lacking
tracheomalacia
tracheomalacia from trachea and the greek μαλακία softening is a condition characterized by flaccidity of the tracheal support cartilage which leads to tracheal collapse especially when increased airflow is demanded the trachea normally dilates slightly during inspiration and narrows slightly during expiration these processes are exaggerated in tracheomalacia leading to airway collapse on expiration the usual symptom of tracheomalacia is expiratory stridor or laryngeal crow
pulmonary sequestration
a pulmonary sequestration bronchopulmonary sequestration or cystic lung lesion is a medical condition wherein a piece of tissue that ultimately develops into lung tissue is not attached to the pulmonary arterial blood supply as is the case in normally developing lung as a result this sequestered tissue is not connected to the normal bronchial airway architecture and as a result fails to function in and contribute to respiration of the organism
pulmonary hypoplasia
pulmonary hypoplasia is incomplete development of the lungs resulting in an abnormally low number or size of bronchopulmonary segments or alveoli a congenital malformation it most often occurs secondary to other fetal abnormalities that interfere with normal development of the lungs primary idiopathic pulmonary hypoplasia is rare and usually not associated with other maternal or fetal abnormalities
congenital pulmonary airway malformation
congenital pulmonary airway malformation cpam formerly known as congenital cystic adenomatoid malformation ccam is a congenital disorder of the lung similar to bronchopulmonary sequestration in cpam usually an entire lobe of lung is replaced by a non working cystic piece of abnormal lung tissue this abnormal tissue will never function as normal lung tissue the underlying cause for cpam is unknown it occurs in approximately 1 in every 30 000 pregnancies
cleft lip and cleft palate
cleft lip and cleft palate also known as orofacial cleft is a group of conditions that includes cleft lip cl cleft palate cp and both together clp a cleft lip contains an opening in the upper lip that may extend into the nose the opening may be on one side both sides or in the middle a cleft palate is when the roof of the mouth contains an opening into the nose these disorders can result in feeding problems speech problems hearing problems and frequent ear infections less than half the time the condition is associated with other disorders
cleft lip and cleft palate also known as orofacial cleft is a group of conditions that includes cleft lip cl cleft palate cp and both together clp a cleft lip contains an opening in the upper lip that may extend into the nose the opening may be on one side both sides or in the middle a cleft palate is when the roof of the mouth contains an opening into the nose these disorders can result in feeding problems speech problems hearing problems and frequent ear infections less than half the time the condition is associated with other disorders cleft lip and palate are the result of tissues of the face not joining properly during development as such they are a type of birth defect the cause is unknown in most cases risk factors include smoking during pregnancy diabetes obesity an older mother and certain medications such as some used to treat seizures cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam a cleft lip or palate can be successfully treated with surgery this is often done in the first few months of life for cleft lip and before eighteen months for cleft palate speech therapy and dental care may also be needed with appropriate treatment outcomes are good cleft lip and palate occurs in about 1 to 2 per 1000 births in the developed world cl is about twice as common in males as females while cp without cl is more common in females in 2013 it resulted in about 3 300 deaths globally down from 7 600 deaths in 1990 the condition was formerly known as a hare lip because of its resemblance to a hare or rabbit but that term is now generally considered to be offensive
van der woude syndrome
van der woude syndrome vdws is a genetic disorder characterized by the combination of lower lip pits cleft lip with or without cleft palate and cleft palate alone cp the frequency of orofacial clefts ranges from 1 1000 to 1 500 births worldwide and there are more than 400 syndromes that involve cleft lip with or without cleft palate vws is distinct from other clefting syndromes due to the combination of cleft lip and palate clp and cp within the same family other features frequently associated with vws include hypodontia in 10 81 of cases narrow arched palate congenital heart disease heart murmur and cerebral abnormalities syndactyly of the hands polythelia ankyloglossia and adhesions between the upper and lower gum pads
ankyloglossia
ankyloglossia also known as tongue tie is a congenital oral anomaly that may decrease mobility of the tongue tip and is caused by an unusually short thick lingual frenulum a membrane connecting the underside of the tongue to the floor of the mouth ankyloglossia varies in degree of severity from mild cases characterized by mucous membrane bands to complete ankyloglossia whereby the tongue is tethered to the floor of the mouth
esophageal atresia
esophageal atresia or oesophageal atresia is a congenital medical condition birth defect which affects the alimentary tract it causes the esophagus to end in a blind ended pouch rather than connecting normally to the stomach it comprises a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus it is characterized anatomically by a congenital obstruction of the esophagus with interruption of the continuity of the esophageal wall
esophageal web
duodenal atresia
duodenal atresia also known as duodenojejunal atresia is the congenital absence or complete closure of a portion of the lumen of the duodenum it causes increased levels of amniotic fluid during pregnancy polyhydramnios and intestinal obstruction in newborn babies radiography shows a distended stomach and distended duodenum which are separated by the pyloric valve a finding described as the double bubble sign treatment includes suctioning out any fluid that is trapped in the stomach providing fluids intravenously and surgical repair of the intestinal closure
imperforate anus
hirschsprung s disease
hirschsprung s disease hd is a form of megacolon that occurs when part or all of the large intestine or antecedent parts of the gastrointestinal tract have no ganglion cells and therefore cannot function during normal prenatal development cells from the neural crest migrate into the large intestine colon to form the networks of nerves called the myenteric plexus auerbach plexus between the smooth muscle layers of the gastrointestinal tract wall and the submucosal plexus meissner plexus within the submucosa of the gastrointestinal tract wall in hirschsprung s disease the migration is not complete and part of the colon lacks these nerve bodies that regulate the activity of the colon the affected segment of the colon cannot relax and pass stool through the colon creating an
intestinal malrotation
intestinal malrotation is a congenital anomaly of rotation of the midgut embryologically the gut undergoes a complex rotation outside the abdomen as a result the small bowel is found predominantly on the right side of the abdomen the cecum is displaced from its usual position in the right lower quadrant into the epigastrium right hypochondrium the ligament of treitz is displaced inferiorly and rightward fibrous bands of ladd course over the vertical portion of the duodenum dii causing intestinal obstruction the small intestine has an unusually narrow base and therefore the midgut is prone to volvulus a twisting that can obstruct the mesenteric blood vessels and cause intestinal ischemia
biliary atresia
biliary atresia also known as extrahepatic ductopenia progressive obliterative cholangiopathy or kotb disease is a childhood disease of the liver in which one or more bile ducts are abnormally narrow blocked or absent it can be congenital or acquired as a birth defect in newborn infants it has an incidence of one in 10 000 – 15 000 live births in the united states and a prevalence of one in 16 700 in the british isles biliary atresia is most common in east asia with a frequency of one in 5 000
choledochal cysts
choledochal cysts aka bile duct cyst are congenital conditions involving cystic dilatation of bile ducts they are uncommon in western countries but not as rare in east asian nations like japan and china
alagille syndrome
alagille syndrome is an autosomal dominant genetic disorder that affects the liver heart kidney and other systems of the body problems associated with the disorder generally become evident in infancy or early childhood the disorder is inherited in an autosomal dominant pattern and the estimated prevalence of alagille syndrome is 1 in every 100 000 live births it is named for daniel alagille
johanson – blizzard syndrome
johanson – blizzard syndrome jbs is a rare sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas nose and scalp with mental retardation hearing loss and growth failure it is sometimes described as a form of ectodermal dysplasia the disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas and it is considered to be an inherited pancreatic disease
annular pancreas
annular pancreas is a rare condition in which the second part of the duodenum is surrounded by a ring of pancreatic tissue continuous with the head of the pancreas this portion of the pancreas can constrict the duodenum and block or impair the flow of food to the rest of the intestines it is estimated to occur in 1 out of 12 000 to 15 000 newborns the ambiguity arises from the fact that not all cases are symptomatic
shwachman – diamond syndrome
shwachman – diamond syndrome sds or shwachman – bodian – diamond syndrome is a rare congenital disorder characterized by exocrine pancreatic insufficiency bone marrow dysfunction skeletal abnormalities and short stature after cystic fibrosis cf it is the second most common cause of exocrine pancreatic insufficiency in children
pancreas divisum
uterine malformation
a uterine malformation is a type of female genital malformation resulting from an abnormal development of the müllerian duct s during embryogenesis symptoms range from amenorrhea infertility recurrent pregnancy loss and pain to normal functioning depending on the nature of the defect
müllerian agenesis
vaginal septum
labial fusion
cryptorchidism
cryptorchidism is the absence of one or both testes from the scrotum it is the most common birth defect of the male genitals about 3 of full term and 30 of premature infant boys are born with at least one undescended testis however about 80 of cryptorchid testes descend by the first year of life the majority within three months making the true incidence of cryptorchidism around 1 overall cryptorchidism may develop after infancy sometimes as late as young adulthood but that is exceptional a testis absent from the normal scrotal position may be
cryptorchidism is the absence of one or both testes from the scrotum it is the most common birth defect of the male genitals about 3 of full term and 30 of premature infant boys are born with at least one undescended testis however about 80 of cryptorchid testes descend by the first year of life the majority within three months making the true incidence of cryptorchidism around 1 overall cryptorchidism may develop after infancy sometimes as late as young adulthood but that is exceptional cryptorchidism is distinct from monorchism the condition of having only one testicle the condition may occur on one or both sides it more commonly affects the right testis a testis absent from the normal scrotal position may be 1 anywhere along the path of descent from high in the posterior retroperitoneal abdomen just below the kidney to the inguinal ring 2 in the inguinal canal 3 ectopic having wandered from the path of descent usually outside the inguinal canal and sometimes even under the skin of the thigh the perineum the opposite scrotum or the femoral canal 4 undeveloped hypoplastic or severely abnormal dysgenetic 5 missing also see anorchia about two thirds of cases without other abnormalities are unilateral most of the other third involve both testes in 90 of cases an undescended testis can be felt in the inguinal canal in a small minority of cases missing testes may be found in the abdomen or appear to be nonexistent truly hidden undescended testes are associated with reduced fertility increased risk of testicular germ cell tumors and psychological problems when the boy is grown undescended testes are also more susceptible to testicular torsion and subsequent infarction and inguinal hernias without intervention an undescended testicle will usually descend during the first year of life but to reduce these risks undescended testes can be brought into the scrotum in infancy by a surgical procedure called an orchiopexy although cryptorchidism nearly always refers to congenital absence or maldescent a testis observed in the scrotum in early infancy can occasionally reascend move back up into the inguinal canal a testis which can readily move or be moved between the scrotum and canal is referred to as retractile the word is from the greek κρυπτός kryptos meaning hidden ὄρχις orchis meaning testicle cryptorchidism hypospadias testicular cancer and poor semen quality make up the syndrome known as testicular dysgenesis syndrome
hypospadias
hypospadias haɪpoʊˈspeɪdɪəs is a birth defect of the urethra where the urinary opening is not at the usual location on the head of the penis it is the second most common birth abnormality of the male reproductive system affecting approximately 1 of every 250 in approximately 90 of cases the opening meatus is on or near the head of the penis glans referred to as distal hypospadias while the remainder have proximal hypospadias with a meatus near or within the scrotum shiny tissue seen extending from the meatus to the tip of the glans which would have made the urinary channel is referred to as the urethral plate
hypospadias haɪpoʊˈspeɪdɪəs is a birth defect of the urethra where the urinary opening is not at the usual location on the head of the penis it is the second most common birth abnormality of the male reproductive system affecting approximately 1 of every 250 in approximately 90 of cases the opening meatus is on or near the head of the penis glans referred to as distal hypospadias while the remainder have proximal hypospadias with a meatus near or within the scrotum shiny tissue seen extending from the meatus to the tip of the glans which would have made the urinary channel is referred to as the urethral plate in most cases the foreskin is also underdeveloped and does not wrap completely around the penis leaving the underside of the glans penis uncovered there may also be downward bending of the penis commonly referred to as chordee this is found in 10 of distal hypospadias and 50 of proximal hypospadias at the time of surgery the scrotum may be higher than usual to either side of the penis called penoscrotal transposition adding to the abnormal overall appearance hypospadias is thought to result from failure of the urinary channel to completely tubularize to the end of the penis the cause of hypospadias is not known most often it is the only abnormal finding although in about 10 of cases hypospadias may be part of a syndrome with multiple abnormalities the most common associated defect is an undescended testicle which has been reported in approximately 3 of infants with distal hypospadias and 10 of those having proximal hypospadias the combination of hypospadias and an undescended testicle sometimes indicates a disorder of sexual differentiation and so additional testing may be recommended otherwise no blood tests or x rays are routinely needed in newborns with hypospadias
monorchism
monorchism also monorchidism is the state of having only one testicle within the scrotum
anorchia
anorchia or anorchism is an xy disorder of sex development in which individuals have both testes absent at birth within a few weeks of fertilization the embryo develops rudimentary gonads testes which produce hormones responsible for the development of the reproductive system if the testes fail to develop within eight weeks the baby will develop female genitalia see swyer syndrome if the testes begin to develop but are lost or cease to function between eight and 10 weeks the baby will have ambiguous genitalia when it is born however if the testes are lost after 14 weeks the baby will have partial male genitalia with the notable absence of gonads
anorchia or anorchism is an xy disorder of sex development in which individuals have both testes absent at birth within a few weeks of fertilization the embryo develops rudimentary gonads testes which produce hormones responsible for the development of the reproductive system if the testes fail to develop within eight weeks the baby will develop female genitalia see swyer syndrome if the testes begin to develop but are lost or cease to function between eight and 10 weeks the baby will have ambiguous genitalia when it is born however if the testes are lost after 14 weeks the baby will have partial male genitalia with the notable absence of gonads tests include observable lack of testes low testosterone levels typical female levels elevated follicle stimulating hormone and luteinizing hormone levels xy karyotype ultrasound or magnetic resonance imaging showing absent gonadal tissue low bone density low anti müllerian hormone levels and surgical exploration for evidence of male gonadal tissue
congenital absence of the vas deferens
congenital absence of the vas deferens cavd is a condition in which the vasa deferentia reproductive organs fail to form properly prior to birth it may either be unilateral cuavd or bilateral cbavd
persistent müllerian duct syndrome
persistent müllerian duct syndrome pmds is the presence of müllerian duct derivatives fallopian tubes uterus and or the upper part of the vagina in a genetically male animal in humans pmds typically is due to an autosomal recessive congenital disorder and is considered by some to be a form of pseudohermaphroditism due to the presence of müllerian derivatives
xy gonadal dysgenesis
renal agenesis
renal agenesis is a medical condition in which one unilateral or both bilateral fetal kidneys fail to develop it can be associated with ret or upk 3 a
potter sequence
potter sequence also known as potter s syndrome potter s sequence or oligohydramnios sequence is the atypical physical appearance of a fetus or neonate due to oligohydramnios experienced in the uterus oligohydramnios is the decrease in amniotic fluid volume sufficient to cause deformations in morphogenesis of the fetus potter s sequence is known in the medical field as clubbed feet pulmonary hypoplasia and cranial anomalies related to the oligohydramnios
potter sequence also known as potter s syndrome potter s sequence or oligohydramnios sequence is the atypical physical appearance of a fetus or neonate due to oligohydramnios experienced in the uterus oligohydramnios is the decrease in amniotic fluid volume sufficient to cause deformations in morphogenesis of the fetus oligohydramnios is the cause of potter sequence but there are many things that can lead to oligohydramnios it can be caused by renal diseases such as bilateral renal agenesis bra atresia of the ureter or urethra causing obstruction of the urinary tract polycystic or multicystic kidney diseases renal hypoplasia amniotic rupture toxemia or uteroplacental insufficiency from maternal hypertension potter s sequence is known in the medical field as clubbed feet pulmonary hypoplasia and cranial anomalies related to the oligohydramnios the term potter sequence was initially intended to only refer to cases caused by bra however it is now commonly used by many clinicians and researchers to refer to any case that presents with oligohydramnios or anhydramnios regardless of the source of the loss of amniotic fluid
polycystic kidney disease
polycystic kidney disease pkd or pckd also known as polycystic kidney syndrome is a genetic disorder in which abnormal cysts develop and grow in the kidneys cystic disorders can express themselves at any point infancy childhood or adulthood the disease occurs in humans and some other animals pkd is characterized by the presence of multiple cysts hence polycystic typically in both kidneys however 17 of cases initially present with observable disease in one kidney with most cases progressing to bilateral disease in adulthood
polycystic kidney disease pkd or pckd also known as polycystic kidney syndrome is a genetic disorder in which abnormal cysts develop and grow in the kidneys cystic disorders can express themselves at any point infancy childhood or adulthood the disease occurs in humans and some other animals pkd is characterized by the presence of multiple cysts hence polycystic typically in both kidneys however 17 of cases initially present with observable disease in one kidney with most cases progressing to bilateral disease in adulthood polycystic kidney disease is one of the most common hereditary diseases in the united states affecting more than 600 000 people it is the cause of nearly 10 of end stage renal disease and affects men women and all races equally
medullary cystic kidney disease
medullary cystic kidney disease mckd is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end stage renal disease because the presence of cysts is neither an early nor a typical diagnostic feature of the disease and because at least 4 different gene mutations may give rise to the condition the name autosomal dominant tubulointerstitial kidney disease adtkd has been proposed to be appended with the underlying genetic variant for a particular individual importantly if cysts are found in the medullary collecting ducts they can result in a shrunken kidney unlike that of polycystic kidney disease there are two known forms of medullary cystic kidney disease mucin 1 kidney disease 1 mkd 1 and mucin 2 kidney disease uromodulin kidney disea
medullary sponge kidney
medullary sponge kidney also known as cacchi – ricci disease is a congenital disorder of the kidneys characterized by cystic dilatation of the collecting tubules in one or both kidneys individuals with medullary sponge kidney are at increased risk for kidney stones and urinary tract infection patients with msk typically pass twice as many stones per year as do other stone formers without msk while described as a benign disorder with a low morbidity rate as many as 10 of patients with msk have an increased risk of morbidity associated with frequent stones and utis while some patients report increased chronic kidney pain the source of the pain when a uti or blockage is not present is unclear at this time renal colic flank and back pain is present in 55 of patients women with
nephronophthisis
nephronophthisis is a genetic disorder of the kidneys which affects children it is classified as a medullary cystic kidney disease the disorder is inherited in an autosomal recessive fashion and although rare is the most common genetic cause of childhood kidney failure it is a form of ciliopathy its incidence has been estimated to be 0 9 cases per million people in the united states and 1 in 50 000 births in canada
meckel syndrome
meckel syndrome also known as meckel – gruber syndrome gruber syndrome dysencephalia splanchnocystica is a rare lethal ciliopathic genetic disorder characterized by renal cystic dysplasia central nervous system malformations occipital encephalocele polydactyly post axial hepatic developmental defects and pulmonary hypoplasia due to oligohydramnios meckel – gruber syndrome is named for johann meckel and georg gruber
ectopic ureter
ectopic ureter or ureteral ectopia is a medical condition where the ureter rather than terminating at the urinary bladder terminates at a different site in males this site is usually the urethra in females this is usually the urethra or vagina it can be associated with renal dysplasia frequent urinary tract infections and urinary incontinence usually continuous drip incontinence ectopic ureters are found in 1 of every 2000 – 4000 patients and can be difficult to diagnose but are most often seen on ct scans
horseshoe kidney
horseshoe kidney also known as ren arcuatus in latin renal fusion or super kidney is a congenital disorder affecting about 1 in 600 people more common in men in this disorder the patient s kidneys fuse together to form a horseshoe shape during development in the womb the fused part is the isthmus of the horseshoe kidney fusion abnormalities of the kidney can be categorized into two groups horseshoe kidney and crossed fused ectopia the horseshoe kidney is the most common renal fusion anomaly
epispadias
an epispadias is a rare type of malformation of the penis in which the urethra ends in an opening on the upper aspect the dorsum of the penis it can also develop in females when the urethra develops too far anteriorly it occurs in around 1 in 120 000 male and 1 in 500 000 female births
bladder exstrophy
bladder exstrophy also known as ectopia vesicae is a congenital anomaly that exists along the spectrum of the exstrophy epispadias complex and most notably involves protrusion of the urinary bladder through a defect in the abdominal wall its presentation is variable often including abnormalities of the bony pelvis pelvic floor and genitalia the underlying embryologic mechanism leading to bladder exstrophy is unknown though it is thought to be in part due to failed reinforcement of the cloacal membrane by underlying mesoderm
hip dysplasia
pes cavus
pes cavus in medical terminology also high instep high arch talipes cavus cavoid foot and supinated foot type is a human foot type in which the sole of the foot is distinctly hollow when bearing weight that is there is a fixed plantar flexion of the foot a high arch is the opposite of a flat foot and is somewhat less common
dolichocephaly
dolichocephaly derived from the ancient greek δολιχός meaning long is a condition where the head is longer than would be expected relative to its width the skulls of neanderthals show a marked dolichocephaly compared to other humans past or present in humans scaphocephaly is a form of dolichocephaly it can present be in cases of sensenbrenner syndrome crouzon syndrome sotos syndrome as well as marfan syndrome
plagiocephaly
plagiocephaly also known as flat head syndrome is a condition characterized by an asymmetrical distortion flattening of one side of the skull it is characterized by a flat spot on the back or one side of the head caused by remaining in a supine position for too long
plagiocephaly also known as flat head syndrome is a condition characterized by an asymmetrical distortion flattening of one side of the skull it is characterized by a flat spot on the back or one side of the head caused by remaining in a supine position for too long plagiocephaly is the word that is used to describe a diagonal asymmetry across the head shape this word particularly describes a flattening which is to one side at the back of the head and there is often some facial asymmetry plagiocephaly divides into two groups synostotic plagiocephaly with one or more fused cranial sutures and nonsynostotic deformational plagiocephaly surgical treatment of these groups includes the deference method however the treatment of deformational plagiocephaly is controversial brachycephaly describes a very wide head shape with a flattening across the whole back of the head
pectus excavatum
pectus excavatum is a congenital deformity of the anterior thoracic wall in which the sternum and rib cage grow abnormally this produces a caved in or sunken appearance of the chest it can either be present at birth or not develop until puberty pectus excavatum is sometimes considered to be cosmetic but depending on the severity it can impair cardiac and respiratory function and cause pain in the chest and back people with the condition may experience negative psychosocial effects and avoid activities that expose the chest
pectus carinatum
pectus carinatum l carīnātus equiv to carīn a keel also called pigeon chest is a deformity of the chest characterized by a protrusion of the sternum and ribs it is distinct from the related deformity pectus excavatum
camptodactyly
brachydactyly
brachydactyly greek βραχύς short plus δάκτυλος finger is a medical term which literally means shortness of the fingers and toes digits the shortness is relative to the length of other long bones and other parts of the body brachydactyly is an inherited usually dominant trait it most often occurs as an isolated dysmelia but can also occur with other anomalies as part of many congenital syndromes
brachydactyly greek βραχύς short plus δάκτυλος finger is a medical term which literally means shortness of the fingers and toes digits the shortness is relative to the length of other long bones and other parts of the body brachydactyly is an inherited usually dominant trait it most often occurs as an isolated dysmelia but can also occur with other anomalies as part of many congenital syndromes nomograms for normal values of finger length as a ratio to other body measurements have been published in clinical genetics the most commonly used index of digit length is the dimensionless ratio of the length of the 3 rd middle finger to the hand length both are expressed in the same units centimeters for example and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist a nomogram can be found in the appendix of jones ed smith s recognizable patterns of human malformation 5 th edition philadelphia saunders 1997
genu varum
boomerang dysplasia
boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage
polydactyly
syndactyly
syndactyly from greek συν meaning together and δακτυλος meaning finger is a condition where in two or more digits are fused together it occurs normally in some mammals such as the siamang and diprotodontia but is an unusual condition in humans
ectrodactyly
ectrodactyly split hand cleft hand derived from the greek ektroma abortion and daktylos finger involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand split foot malformation shfm the hands and feet of people with ectrodactyly are often described as claw like and may include only the thumb and one finger usually either the little finger ring finger or a syndactyly of the two with similar abnormalities of the feet
ectrodactyly split hand cleft hand derived from the greek ektroma abortion and daktylos finger involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand split foot malformation shfm the hands and feet of people with ectrodactyly are often described as claw like and may include only the thumb and one finger usually either the little finger ring finger or a syndactyly of the two with similar abnormalities of the feet it is a rare form of a congenital disorder in which the development of the hand is disturbed it is a type i failure of formation – longitudinal arrest the central ray of the hand is affected and usually appears without proximal deficiencies of nerves vessels tendons muscles and bones in contrast to the radial and ulnar deficiencies the cleft hand appears as a v shaped cleft situated in the centre of the hand the digits at the borders of the cleft might be syndactilyzed and one or more digits can be absent in most types the thumb ring finger and little finger are the less affected parts of the hand the incidence of cleft hand varies from 1 in 90 000 to 1 in 10 000 births depending on the used classification cleft hand can appear unilateral or bilateral and can appear isolated or associated with a syndrome split hand foot malformation shfm is characterized by underdeveloped or absent central digital rays clefts of hands and feet and variable syndactyly of the remaining digits shfm is a heterogeneous condition caused by abnormalities at one of multiple loci including shfm 1 shfm 1 at 7 q 21 q 22 shfm 2 xq 26 shfm 3 fbxw 4 dactylin at 10 q 24 shfm 4 tp 63 at 3 q 27 and shfm 5 dlx 1 and dlx 2 at 2 q 31 shfm 3 is unique in that it is caused by submicroscopic tandem chromosome duplications of fbxw 4 dactylin shfm 3 is considered isolated ectrodactyly and does not show a mutation of the tp 63 gene
amelia birth defect
amelia from greek ἀ lack of plus μέλος plural μέλεα or μέλη limb is the birth defect of lacking one or more limbs it can also result in a shrunken or deformed limb for example a child might be born without an elbow or forearm the term may be modified to indicate the number of legs or arms missing at birth such as tetra amelia for the absence of all four limbs a related term is meromelia which is the partial absence of a limb or limbs
phocomelia
phocomelia from ancient greek φώκη phōkē seal animal o interfix μέλος melos limb english suffix ia is an extremely rare congenital disorder involving malformation of the limbs dysmelia étienne geoffroy saint hilaire coined the term in 1836
phocomelia from ancient greek φώκη phōkē seal animal o interfix μέλος melos limb english suffix ia is an extremely rare congenital disorder involving malformation of the limbs dysmelia étienne geoffroy saint hilaire coined the term in 1836 although many factors can cause phocomelia the prominent roots come from the use of the drug thalidomide and from genetic inheritance occurrence in an individual results in various abnormalities to the face limbs ears nose vessels and many other underdevelopments although operations may improve some abnormalities many are not surgically treatable due to the lack of nerves and other related structures
roberts syndrome
roberts syndrome or sometimes called pseudothalidomide syndrome is an extremely rare genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division leading to malformation of the bones in the skull face arms and legs
ectromelia
fibular hemimelia
madelung s deformity
madelung s deformity is usually characterized by malformed wrists and wrist bones accompanied by short stature and is often associated with léri weill dyschondrosteosis it has only been recognized within the past hundred years
sprengel s deformity
sprengel s deformity also known as high scapula or congenital high scapula is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other the deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position the deformity is commonly associated with other conditions most notably klippel feil syndrome congenital scoliosis including cervical scoliosis fused ribs the presence of an omovertebral bone and spina bifida the left shoulder is the most commonly affected shoulder but the condition can be bilateral meaning that both shoulders are affected about 75 of all observed cases are girls treatment includes surgery in early childhood and physical ther
sprengel s deformity also known as high scapula or congenital high scapula is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other the deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position the deformity is commonly associated with other conditions most notably klippel feil syndrome congenital scoliosis including cervical scoliosis fused ribs the presence of an omovertebral bone and spina bifida the left shoulder is the most commonly affected shoulder but the condition can be bilateral meaning that both shoulders are affected about 75 of all observed cases are girls treatment includes surgery in early childhood and physical therapy surgical treatment in adulthood is complicated by the risk of nerve damage when removing the omovertebral bone and when stretching the muscle tissue during relocation of the shoulder
cleidocranial dysostosis
cleidocranial dysostosis also called cleidocranial dysplasia is congenital disorder that mostly affects the development of bones and teeth there is typically either poorly developed or no collarbones which often allows the shoulders to be brought close together the front of the skull often does not close under later and those affected are short other symptoms may include a prominent forehead wide set eyes abnormal teeth and a flat nose symptoms can vary between people however intelligence is typically normal
clinodactyly
arthrogryposis
arthrogryposis multiplex congenita amc or simply arthrogryposis describes congenital joint contractures in two or more areas of the body it derives its name from greek literally meaning curving of joints arthron joint grȳpōsis late latin form of late greek grūpōsis hooking children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening and therefore are unable to perform passive extension and flexion in the affected joint or joints amc has been divided into three groups amyoplasia distal arthrogryposis and syndromic amyoplasia is characterized by severe joint contractures and muscle weakness distal arthrogryposis mainly involves the hands and feet types of arthrogryposis with a primary neurological or muscle
arthrogryposis multiplex congenita amc or simply arthrogryposis describes congenital joint contractures in two or more areas of the body it derives its name from greek literally meaning curving of joints arthron joint grȳpōsis late latin form of late greek grūpōsis hooking children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening and therefore are unable to perform passive extension and flexion in the affected joint or joints amc has been divided into three groups amyoplasia distal arthrogryposis and syndromic amyoplasia is characterized by severe joint contractures and muscle weakness distal arthrogryposis mainly involves the hands and feet types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group
femur fibula ulna syndrome
craniosynostosis
craniosynostosis from cranio cranium syn together ostosis relating to bone is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses by turning into bone ossification thereby changing the growth pattern of the skull because the skull cannot expand perpendicular to the fused suture it compensates by growing more in the direction parallel to the closed sutures sometimes the resulting growth pattern provides the necessary space for the growing brain but results in an abnormal head shape and abnormal facial features in cases in which the compensation does not effectively provide enough space for the growing brain craniosynostosis results in increased intracranial pressure leading possibly to visual impairment sleeping impairment eating
craniosynostosis from cranio cranium syn together ostosis relating to bone is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses by turning into bone ossification thereby changing the growth pattern of the skull because the skull cannot expand perpendicular to the fused suture it compensates by growing more in the direction parallel to the closed sutures sometimes the resulting growth pattern provides the necessary space for the growing brain but results in an abnormal head shape and abnormal facial features in cases in which the compensation does not effectively provide enough space for the growing brain craniosynostosis results in increased intracranial pressure leading possibly to visual impairment sleeping impairment eating difficulties or an impairment of mental development combined with a significant reduction in iq craniosynostosis occurs in one in 2000 births craniosynostosis is part of a syndrome in 15 to 40 of the patients but it usually occurs as an isolated condition
trigonocephaly
muenke syndrome
muenke syndrome also known as fgfr 3 related craniosynostosis is a human specific condition characterized by the premature closure of certain bones of the skull during development which affects the shape of the head and face first described by maximilian muenke the syndrome occurs in about 1 in 30 000 newborns this condition accounts for an estimated 8 percent of all cases of craniosynostosis
crouzon syndrome
crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome specifically this syndrome affects the first branchial or pharyngeal arch which is the precursor of the maxilla and mandible since the branchial arches are important developmental features in a growing embryo disturbances in their development create lasting and widespread effects breaking down the name craniofacial refers to the skull and face and dysostosis refers to malformation of bone
hypertelorism
macrocephaly
macrocephaly is a condition in which the head is abnormally large this includes the scalp the cranial bone and the contents of the cranium
treacher collins syndrome
treacher collins syndrome tcs is an autosomal dominant congenital disorder characterized by craniofacial deformities involving ears eyes and cheekbones and goes along with normal intelligence it is caused by a mutation in the tcof 1 gene most commonly or of polr 1 c or polr 1 d the typical physical features include downward slanting eyes micrognathia a small lower jaw conductive hearing loss underdeveloped zygoma drooping part of the lateral lower eyelids and malformed or absent ears
treacher collins syndrome tcs is an autosomal dominant congenital disorder characterized by craniofacial deformities involving ears eyes and cheekbones and goes along with normal intelligence it is caused by a mutation in the tcof 1 gene most commonly or of polr 1 c or polr 1 d the typical physical features include downward slanting eyes micrognathia a small lower jaw conductive hearing loss underdeveloped zygoma drooping part of the lateral lower eyelids and malformed or absent ears tcs occurs in about one in 50 000 births in europe the syndrome is named after edward treacher collins 1862 – 1932 the english surgeon and ophthalmologist who described its essential traits in 1900
frontonasal dysplasia
frontonasal dysplasia fnd also known as median cleft face syndrome frontonasal dysostosis frontonasal malformation or tessier cleft number 0 14 is a congenital malformation of the midface for the diagnosis of fnd a patient should present at least two of the following characteristics hypertelorism an increased distance between the eyes a wide nasal root vertical midline cleft of the nose and or upper lip cleft of the wings of the nose malformed nasal tip encephalocele an opening of the skull with protrusion of the brain or v shaped hair pattern on the forehead the cause of fnd remains unknown fnd seems to be sporadic random and multiple environmental factors are suggested as possible causes for the syndrome however in some families multiple cases of fnd were reported
spondylocostal dysostosis
spondylocostal dysostosis is a rare heritable axial skeleton growth disorder it is characterized by widespread and sometimes severe malformations of the vertebral column and ribs shortened thorax and moderate to severe scoliosis and kyphosis individuals with jarcho levin typically appear to have a short trunk and neck with arms appearing relatively long in comparison and a slightly protuberant abdomen severely affected individuals may have life threatening pulmonary complications due to deformities of the thorax the syndrome was first described by saul jarcho and paul m levin at johns hopkins university in 1938
klippel – feil syndrome
klippel – feil syndrome is a rare disease initially reported in 1884 by maurice klippel and andré feil from france characterized by the congenital fusion of any two of the seven cervical vertebrae the syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine klippel feil results in limited movement of the neck klippel – feil syndrome is sometimes identified by shortness of the neck but not all people with this disorder have a visibly shortened neck some people with the syndrome have a very low hairline in 1919 andré feil in his phd thesis suggested another classification of the syndrome encompassing not only deformation of the cervical spine but also deformation of the lumbar and thora
klippel – feil syndrome is a rare disease initially reported in 1884 by maurice klippel and andré feil from france characterized by the congenital fusion of any two of the seven cervical vertebrae the syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine klippel feil results in limited movement of the neck klippel – feil syndrome is sometimes identified by shortness of the neck but not all people with this disorder have a visibly shortened neck some people with the syndrome have a very low hairline in 1919 andré feil in his phd thesis suggested another classification of the syndrome encompassing not only deformation of the cervical spine but also deformation of the lumbar and thoracic spine
cervical rib
a cervical rib in humans is an extra rib which arises from the seventh cervical vertebra sometimes known as neck ribs their presence is a congenital abnormality located above the normal first rib a cervical rib is estimated to occur in 0 6 1 in 150 people to 0 8 of the population people may have a cervical rib on the right left or both sides on imaging cervical ribs can be distinguished because their transverse processes are directed inferolaterally whereas those of the adjacent thoracic spine are directed anterolaterally
a cervical rib in humans is an extra rib which arises from the seventh cervical vertebra sometimes known as neck ribs their presence is a congenital abnormality located above the normal first rib a cervical rib is estimated to occur in 0 6 1 in 150 people to 0 8 of the population people may have a cervical rib on the right left or both sides most cases of cervical ribs are not clinically relevant and do not have symptoms cervical ribs are generally discovered incidentally however they vary widely in size and shape and in rare cases they may cause problems such as contributing to thoracic outlet syndrome because of pressure on the nerves that may be caused by the presence of the rib a cervical rib represents a persistent ossification of the c 7 lateral costal element during early development this ossified costal element typically becomes re absorbed failure of this process results in a variably elongated transverse process or complete rib that can be anteriorly fused with the t 1 first rib below on imaging cervical ribs can be distinguished because their transverse processes are directed inferolaterally whereas those of the adjacent thoracic spine are directed anterolaterally
bifid rib
a bifid rib bifurcated rib or sternum bifidum is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1 2 of humans bifid ribs occur in up to 8 4 of samoans the sternal end of the rib is cleaved into two it is usually unilateral
a bifid rib bifurcated rib or sternum bifidum is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1 2 of humans bifid ribs occur in up to 8 4 of samoans the sternal end of the rib is cleaved into two it is usually unilateral bifid ribs are usually asymptomatic and are often discovered incidentally by chest x ray effects of this neuroskeletal anomaly can include respiratory difficulties neurological difficulties limitations and limited energy from the stress of needing to compensate for the neurophysiological difficulties another association is with odontogenic keratocysts okc aka keratocystic odontogenic tumor who terminology of the jaw which may behave aggressively and have a high propensity to recur when treated with simple enucleation and curettage when seen together the patient is likely to have nevoid basal cell carcinoma syndrome aka gorlin goltz syndrome and should be evaluated with this in mind
osteochondrodysplasia
osteochondrodysplasia or skeletal dysplasia is a general term for a disorder of the development dysplasia of bone osteo and cartilage chondro osteochondrodysplasias are rare diseases about 1 in 5 000 babies are born with some type of skeletal dysplasia
achondrogenesis type 1 b
achondrogenesis type 1 b is a severe autosomal recessive skeletal disorder invariable fatal in the perinatal period it is characterized by extremely short limbs a narrow chest and a prominent rounded abdomen the fingers and toes are short and the feet may be rotated inward affected infants frequently have a soft out pouching around the belly button an umbilical hernia or near the groin an inguinal hernia
achondrogenesis
achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia malformation of bones and cartilage these conditions are characterized by a small body short limbs and other skeletal abnormalities as a result of their serious health problems infants with achondrogenesis are usually born prematurely are stillborn or die shortly after birth from respiratory failure some infants however have lived for a while with intensive medical support achondrogenesis type 1 b is caused by a similar mutation in slc 26 a 2 which encodes a sulfate transporter
thanatophoric dysplasia
short rib – polydactyly syndrome
short rib – polydactyly syndrome is a family of four closely related dysplasias i saldino noonan type ii majewski type iii verma naumoff type associated with dync 2 h 1 iv beemer langer type
conradi – hünermann syndrome
chondrodysplasia punctata
rhizomelic chondrodysplasia punctata
rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones i e rhizomelia seizures recurrent respiratory tract infections and congenital cataracts the affected individuals have low levels of plasmalogens
achondroplasia
achondroplasia is a common cause of dwarfism it occurs as a sporadic mutation in approximately 80 of cases associated with advanced paternal age or it may be inherited as an autosomal dominant genetic disorder
hypochondroplasia
hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene fgfr 3 that results in a disproportionately short stature micromelia and a head that appears large when compared with the underdeveloped portions of the body it is classified as short limbed dwarfism
diastrophic dysplasia
diastrophic dysplasia dtd is an autosomal recessive dysplasia which affects cartilage and bone development diastrophism is a general word referring to a twisting diastrophic dysplasia is due to mutations in the slc 26 a 2 gene affected individuals have short stature with very short arms and legs and joint problems that restrict mobility
ellis – van creveld syndrome
ellis – van creveld syndrome also called chondroectodermal dysplasia or mesoectodermal dysplasia but see nomenclature section below is a rare genetic disorder of the skeletal dysplasia type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia congenita abbreviated to sed more often than sdc is a rare disorder of bone growth that results in dwarfism characteristic skeletal abnormalities and occasionally problems with vision and hearing the name of the condition indicates that it affects the bones of the spine spondylo and the ends of bones epiphyses and that it is present from birth congenital the signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to but milder than the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy types ii and xi
léri – weill dyschondrosteosis
osteogenesis imperfecta
osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones it results in bones that break easily the severity may be mild to severe other symptoms may include a blue tinge to the white s of the eye short height loose joints hearing loss breathing problems and problems with the teeth oi affects about one in 15 000 people outcomes depend on the type of disease most people however have good outcomes the condition has been described since ancient history the term osteogenesis imperfecta came into use in 1895 and means imperfect bone formation
osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones it results in bones that break easily the severity may be mild to severe other symptoms may include a blue tinge to the white s of the eye short height loose joints hearing loss breathing problems and problems with the teeth the underlying mechanism is usually a problem with connective tissue due to a lack of type i collagen this occurs in more than 90 of cases due to mutations in the col 1 a 1 or col 1 a 2 genes these genetic problems are often inherited from a person s parents in an autosomal dominant manner or occur via a new mutation there are eight types with type i being the least severe and type ii the most severe diagnosis is often based on symptoms and may be confirmed by collagen or dna testing there is no cure maintaining a health healthy lifestyle by exercising and avoiding smoking can help prevent fractures treatment may include care of broken bones pain medication physical therapy braces or wheelchairs and surgery a type of surgery that puts metal rods through long bones maybe done to strengthen them tentative evidence supports the use of medications of the bisphosphonate type oi affects about one in 15 000 people outcomes depend on the type of disease most people however have good outcomes the condition has been described since ancient history the term osteogenesis imperfecta came into use in 1895 and means imperfect bone formation
osteopetrosis
camurati – engelmann disease
camurati – engelmann disease ced is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton it is a form of dysplasia patients typically have heavily thickened bones especially along the shafts of the long bones called diaphyseal dysplasia the skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed possibly leading to sensory deficits blindness or deafness
maffucci syndrome
maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple hemangiomas also lymphangiomas may be apparent
metaphyseal dysplasia
hereditary multiple exostoses
osteopoikilosis
multiple epiphyseal dysplasia
fairbank s disease or multiple epiphyseal dysplasia med is a rare genetic disorder dominant form 1 in 10 000 births that affects the growing ends of bones bones usually elongate by a process that involves the depositing of cartilage at the ends of the bones called ossification this cartilage then mineralizes and hardens to become bone in med this process is defective
congenital diaphragmatic hernia
congenital diaphragmatic hernia cdh is a birth defect of the diaphragm the most common type of cdh is a bochdalek hernia other types include morgagni hernia diaphragm eventration and central tendon defects of the diaphragm malformation of the diaphragm allows the abdominal organs to push into the chest cavity hindering proper lung formation
omphalocele
gastroschisis
gastroschisis represents a congenital defect characterised by a defect in the anterior abdominal wall through which the abdominal contents freely protrude there is no overlying sac or peritoneum and the size of the defect is usually less than 4 centimetres 1 6 in the abdominal wall defect is located at the junction of the umbilicus and normal skin and is almost always to the right of the umbilicus the defect occurs 5 – 8 weeks after conception most likely due to a disruption of the bloodsupply to the developing abdominal wall
prune belly syndrome
prune belly syndrome also referred to as abdominal muscle deficiency syndrome congenital absence of the abdominal muscles eagle barrett syndrome obrinsky syndrome fröhlich syndrome or rarely triad syndrome is a rare genetic birth defect affecting about 1 in 40 000 births about 97 of those affected are male prune belly syndrome is a congenital disorder of the urinary system characterized by a triad of symptoms the syndrome is named for the mass of wrinkled skin that is often but not always present on the abdomen of those with the disorder
ehlers – danlos syndrome
ehlers – danlos syndrome eds is a group of genetic connective tissue disorders symptoms can vary from mildly loose joints to life threatening complications such as aortic dissection chronic pain or early osteoarthritis may also occur eds affects about 1 in 5 000 people globally excess mobility was first described by hippocrates in 400 bc the syndrome is named after two physicians edvard ehlers from denmark and henri alexandre danlos from france who described it at the turn of the 20 th century
ehlers – danlos syndrome eds is a group of genetic connective tissue disorders symptoms can vary from mildly loose joints to life threatening complications such as aortic dissection chronic pain or early osteoarthritis may also occur eds is caused by a defect in the structure production or processing of collagen or proteins that interact with collagen the collagen in connective tissue helps tissues resist deformation collagen is an important contributor to the physical strength of tissue abnormal collagen renders these structures more elastic in some cases it can be life threatening people with joint pain may be misdiagnosed with hypochondriasis depression chronic fatigue syndrome or other conditions there may be poor knowledge about eds among practitioners there is no cure for eds treatment is supportive including close monitoring of the digestive excretory and particularly the cardiovascular systems physical therapy bracing and corrective surgery may help with injuries and pain that tend to develop in certain types of eds although extra caution and special practices are advised to prevent permanent damage eds is a long term disease eds affects about 1 in 5 000 people globally excess mobility was first described by hippocrates in 400 bc the syndrome is named after two physicians edvard ehlers from denmark and henri alexandre danlos from france who described it at the turn of the 20 th century
poland syndrome
poland syndrome is a rare birth defect characterized by underdevelopment or absence of the chest muscle pectoralis on one side of the body and usually also webbing of the fingers cutaneous syndactyly of the hand on the same side the ipsilateral hand in most affected individuals the missing part is the large section of the muscle that normally attaches to the upper arm on one side and the breastbone sternum on the other other abnormalities may occur on the affected side of the torso in some cases additional muscles in the chest wall side and shoulder are missing or underdeveloped
popliteal pterygium syndrome
ichthyosis
ichthyosis plural ichthyoses is a heterogeneous family of at least 28 generalized mostly genetic skin disorders all types of ichthyosis have dry thickened scaly or flaky skin in many types there is cracked skin which is said to resemble the scales on a fish the word ichthyosis comes from the ancient greek ἰχθύς ichthys meaning fish
ichthyosis plural ichthyoses is a heterogeneous family of at least 28 generalized mostly genetic skin disorders all types of ichthyosis have dry thickened scaly or flaky skin in many types there is cracked skin which is said to resemble the scales on a fish the word ichthyosis comes from the ancient greek ἰχθύς ichthys meaning fish the severity of symptoms can vary enormously from the mildest most common type such as ichthyosis vulgaris which may be mistaken for normal dry skin up to life threatening conditions such as harlequin type ichthyosis ichthyosis vulgaris accounts for more than 95 of cases
netherton syndrome
epidermolysis bullosa
epidermolysis bullosa eb is a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes with an incidence of 20 per million newborns in the united states it is a result of a defect in anchoring between the epidermis and dermis resulting in friction and skin fragility its severity ranges from mild to lethal butterfly children is a term often used to describe younger patients because the skin is said to be as fragile as a butterfly ’ s wings cotton wool babies or in south america as crystal skin children
epidermolysis bullosa simplex
epidermolysis bullosa simplex ebs is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14 blister formation of ebs occurs at the dermoepidermal junction sometimes ebs is called epidermolytic
milroy s disease
xeroderma pigmentosum
xeroderma pigmentosum xp is a rare autosomal recessive genetic disorder of dna repair in which the ability to repair damage caused by ultraviolet uv light is deficient in extreme cases all exposure to sunlight must be forbidden no matter how small as such individuals with the disease are often colloquially referred to as moon child multiple basal cell carcinomas basaliomas and other skin malignancies frequently occur at a young age in those with xp metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in xp victims this disease is present in both genders and in all races with an incidence of 1 250 000 in the united states xp is roughly six times more common in japanese people than in other groups
xeroderma pigmentosum xp is a rare autosomal recessive genetic disorder of dna repair in which the ability to repair damage caused by ultraviolet uv light is deficient in extreme cases all exposure to sunlight must be forbidden no matter how small as such individuals with the disease are often colloquially referred to as moon child multiple basal cell carcinomas basaliomas and other skin malignancies frequently occur at a young age in those with xp metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in xp victims this disease is present in both genders and in all races with an incidence of 1 250 000 in the united states xp is roughly six times more common in japanese people than in other groups normally damage to dna in epidermal cells occurs during exposure to uv light the absorption of the high energy light leads to the formation of pyrimidine dimers namely cyclobutane pyrimidine dimers and pyrimidine 6 4 pyrimidone photoproducts in a healthy normal human being the damage is first excised by endonucleases dna polymerase then repairs the missing sequence and ligase seals the transaction this process is known as nucleotide excision repair
mastocytosis
mastocytosis one of the mast cell diseases is a rare mast cell activation disorder of both children and adults caused by the presence of too many mast cells mastocytes and cd 34 mast cell precursors people affected by mastocytosis are susceptible to itching hives and anaphylactic shock caused by the release of histamine from mast cells the current classifications definitions and diagnostic criteria for mastocytosis are being reviewed for revision to better describe the collection of related disorders
incontinentia pigmenti
limb – mammary syndrome
limb – mammary syndrome is a cutaneous condition characterized by p 63 mutations
ectodermal dysplasia
ectodermal dysplasia is not a single disorder but a group of syndromes all deriving from abnormalities of the ectodermal structures more than 150 different syndromes have been identified despite some of the syndromes having different genetic causes the symptoms are sometimes very similar diagnosis is usually by clinical observation often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive
ectodermal dysplasia is not a single disorder but a group of syndromes all deriving from abnormalities of the ectodermal structures more than 150 different syndromes have been identified despite some of the syndromes having different genetic causes the symptoms are sometimes very similar diagnosis is usually by clinical observation often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive worldwide around 7 000 people have been diagnosed with an ectodermal dysplasia condition some ed conditions are only present in single family units and derive from very recent mutations ectodermal dysplasias can occur in any race but are much more prevalent in caucasians than any other group and especially in fair caucasians ectodermal dysplasias are described as heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair teeth nails sweat glands salivary glands cranial facial structure digits and other parts of the body
dermatopathia pigmentosa reticularis
hypohidrotic ectodermal dysplasia
hypohidrotic ectodermal dysplasia also known as anhidrotic ectodermal dysplasia and christ siemens touraine syndrome is one of about 150 types of ectodermal dysplasia in humans before birth these disorders result in the abnormal development of structures including the skin hair nails teeth and sweat glands
eem syndrome
eem syndrome or ectodermal dysplasia ectrodactyly and macular dystrophy syndrome is an autosomal recessive congenital malformation disorder affecting tissues associated with the ectoderm skin hair nails teeth and also the hands feet and eyes
hay – wells syndrome
hay – wells syndrome also known as aec syndrome see is one of at least 150 known types of ectodermal dysplasia these disorders affect tissues that arise from the ectodermal germ layer such as skin hair and nails
port wine stain
a port wine stain nevus flammeus also commonly called a firemark is almost always a birthmark in rare cases it can develop in early childhood it is caused by a vascular anomaly a capillary malformation in the skin port wine stains are named for their coloration which is similar to a portuguese fortified red wine port wine stains may be part of a syndrome such as sturge – weber syndrome or klippel – trénaunay – weber syndrome
focal dermal hypoplasia
focal dermal hypoplasia also known as goltz syndrome is a form of ectodermal dysplasia it is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth these defects manifest as yellow pink bumps on the skin and pigmentation changes the disorder is also associated with shortness of stature and some evidence suggests that it can cause epilepsy
hailey – hailey disease
dyskeratosis congenita
bloom syndrome
bloom syndrome often abbreviated as bs in literature also known as bloom torre machacek syndrome is a rare autosomal recessive disorder characterized by short stature predisposition to the development of cancer and genomic instability bs is caused by mutations in the blm gene leading to mutated dna helicase protein formation cells from a person with bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and sister chromatid exchanges sces the condition was discovered and first described by new york dermatologist dr david bloom in 1954
kindler syndrome
schöpf – schulz – passarge syndrome
meleda disease
rothmund – thomson syndrome
rothmund – thomson syndrome rts also known as poikiloderma atrophicans with cataract or poikiloderma congenitale is a rare autosomal recessive skin condition originally described by august von rothmund 1830 – 1906 in 1868 matthew sydney thomson 1894 – 1969 published further descriptions in 1936 there have been several reported cases associated with osteosarcoma a hereditary genetic basis mutations in the dna helicase recql 4 gene causing problems during initiation of dna replication has been implicated in the syndrome
darier s disease
darier s disease dar also known as darier disease darier – white disease dyskeratosis follicularis and keratosis follicularis is an autosomal dominant disorder discovered by french dermatologist ferdinand jean darier darier s is characterized by dark crusty patches on the skin sometimes containing pus the crusty patches are also known as keratotic papules keratosis follicularis or dyskeratosis follicularis
darier s disease dar also known as darier disease darier – white disease dyskeratosis follicularis and keratosis follicularis is an autosomal dominant disorder discovered by french dermatologist ferdinand jean darier darier s is characterized by dark crusty patches on the skin sometimes containing pus the crusty patches are also known as keratotic papules keratosis follicularis or dyskeratosis follicularis mild forms of the disease are the most common consisting solely of skin rashes that flare up under certain conditions such as high humidity high stress or tight fitting clothes even in mild forms short stature combined with poorly formed fingernails containing vertical striations are diagnostic
gerodermia osteodysplastica
gerodermia osteodysplastica go also called geroderma osteodysplasticum and walt disney dwarfism is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes usage of the name walt disney dwarfism is attributed to the first known case of the disorder documented in a 1950 journal report in which the authors described five affected members from a swiss family as having the physical appearance of dwarves from a walt disney film
hypotrichosis with juvenile macular dystrophy
hypotrichosis with juvenile macular dystrophy hjmd or cdh 3 is an extremely rare congenital disease characterized by sparse hair growth hypotrichosis from birth and progressive macular corneal dystrophy
pili annulati
pili annulati also known as ringed hair is a genetic trait in which the hair seems banded by alternating segments of light and dark color when seen in reflected light
uncombable hair syndrome
uncombable hair syndrome also known as pili trianguli et canaliculi spun glass hair and cheveux incoiffables is a rare structural anomaly of the hair with a variable degree of effect it was first reported in the early 20 th century and was described in the 1970 s it becomes apparent from as little as 3 months to up to 12 years
monilethrix
monilethrix also referred to as beaded hair is a rare autosomal dominant hair disease that results in short fragile broken hair that appears beaded it comes from the latin word for necklace monile and the greek word for hair thrix
marie unna hereditary hypotrichosis
marie unna hereditary hypotrichosis also known as marie unna hypotrichosis is an autosomal dominant condition characterized by scalp hair that is sparse or absent at birth with variable coarse wiry hair regrowth in childhood and potential loss again at puberty
pachyonychia congenita
pachyonychia congenita is an autosomal dominant skin disorder
aplasia cutis congenita
aplasia cutis congenita also known as cutis aplasia congenital absence of skin and congenital scars is the most common congenital cicatricial alopecia and is a congenital focal absence of epidermis with or without evidence of other layers of the skin it can be associated with johanson blizzard syndrome adams oliver syndrome trisomy 13 and wolf hirschhorn syndrome it can also seen with exposure to methimazole and carbimazole in utero this dermatological manifestation has been linked to peptidase d haploinsufficiency and a deletion in chromosome 19
phakomatosis
phakomatoses or neuro oculo cutaneous syndromes neurocutaneous disorders are multisystem disorders that have characteristic central nervous system ocular and cutaneous lesions of variable severity the skin and the brain have a common ectodermal origin so there are many genetic and acquired diseases that affect both tissues however in some conditions such as von hippel lindau disease ectodermal presentation is minimal
neurofibromatosis
neurofibromatosis type i
neurofibromatosis type i nf 1 is a tumor disorder that is caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division nf 1 causes tumors along the nervous system and can grow anywhere on the body nf 1 is one of the most common genetic disorders and is not limited to any person s race or sex currently 2015 there are at least 100 000 people in the u s and about 150 000 people in the uk who have been diagnosed with nf common symptoms of nf 1 include brownish red spots in the colored part of the eye called lisch nodules benign skin tumors called neurofibromas and larger benign tumors of nerves called plexiform neurofibromas scoliosis curvature of the spine learning disabilities vision disorders mental disabilities multiple café au lait
neurofibromatosis type i nf 1 is a tumor disorder that is caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division nf 1 causes tumors along the nervous system and can grow anywhere on the body nf 1 is one of the most common genetic disorders and is not limited to any person s race or sex currently 2015 there are at least 100 000 people in the u s and about 150 000 people in the uk who have been diagnosed with nf common symptoms of nf 1 include brownish red spots in the colored part of the eye called lisch nodules benign skin tumors called neurofibromas and larger benign tumors of nerves called plexiform neurofibromas scoliosis curvature of the spine learning disabilities vision disorders mental disabilities multiple café au lait tcl name of specifics spots spots and epilepsy nf 1 is a developmental syndrome caused by germline mutations in neurofibromin a gene that is involved in the ras pathway rasopathy due to its rarity and to the fact that genetic diagnosis has been used only in recent years in the past nf 1 was in same cases confused with another syndrome with vaguely similar symptoms the legius syndrome nf 1 is an age specific disease most signs of nf 1 are visible after birth during infancy but many symptoms of nf 1 occur as the person ages and has hormonal changes nf 1 was formerly known as von recklinghausen disease after the researcher friedrich daniel von recklinghausen who first documented the disorder
tuberous sclerosis
tuberous sclerosis is a rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys heart liver eyes lungs and skin a combination of symptoms may include seizures intellectual disability developmental delay behavioral problems skin abnormalities and lung and kidney disease tuberous sclerosis is caused by a mutation of either of two genes tsc 1 and tsc 2 which code for the proteins hamartin and tuberin respectively these proteins act as tumor growth suppressors agents that regulate cell proliferation and differentiation
tuberous sclerosis is a rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys heart liver eyes lungs and skin a combination of symptoms may include seizures intellectual disability developmental delay behavioral problems skin abnormalities and lung and kidney disease tuberous sclerosis is caused by a mutation of either of two genes tsc 1 and tsc 2 which code for the proteins hamartin and tuberin respectively these proteins act as tumor growth suppressors agents that regulate cell proliferation and differentiation the name composed of the latin tuber swelling and the greek skleros hard refers to the pathological finding of thick firm and pale gyri called tubers in the brains of patients post mortem these tubers were first described by désiré magloire bourneville in 1880 the cortical manifestations may sometimes still be known by the eponym bourneville s disease english bɔərnˈviːl or bourneville – pringle disease after bourneville and john james pringle
von hippel – lindau disease
peutz – jeghers syndrome
peutz – jeghers syndrome often abbreviated pjs is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa melanosis this syndrome can be classed as one of various hereditary intestinal polyposis syndromes and one of various hamartomatous polyposis syndromes it has an incidence of approximately 1 in 25 000 to 300 000 births
sturge – weber syndrome
sturge – weber syndrome sometimes referred to as encephalotrigeminal angiomatosis is a rare congenital neurological and skin disorder it is one of the phakomatoses and is often associated with port wine stains of the face glaucoma seizures mental retardation and ipsilateral leptomeningeal angioma cerebral malformations and tumors sturge weber syndrome can be classified into three different types type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions normally only one side of the brain is affected this type is the most common type 2 involvement includes a facial angioma port wine stain with a possibility of glaucoma developing there is not any evidence of brain involvement symptoms can show at any time beyond the initi
sturge – weber syndrome sometimes referred to as encephalotrigeminal angiomatosis is a rare congenital neurological and skin disorder it is one of the phakomatoses and is often associated with port wine stains of the face glaucoma seizures mental retardation and ipsilateral leptomeningeal angioma cerebral malformations and tumors sturge weber syndrome can be classified into three different types type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions normally only one side of the brain is affected this type is the most common type 2 involvement includes a facial angioma port wine stain with a possibility of glaucoma developing there is not any evidence of brain involvement symptoms can show at any time beyond the initial diagnosis of the facial angioma the symptoms can include glaucoma cerebral blood flow abnormalities and headaches more research is needed on this type of sturge weber syndrome type 3 has leptomeningeal angioma involvement exclusively the facial angioma is absent and glaucoma rarely occurs this type is only diagnosed via brain scan sturge weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development unlike other neurocutaneous disorders phakomatoses sturge weber occurs sporadically i e does not have a hereditary etiology it is caused by a somatic activating mutation occurring in the gnaq gene radiological findings will show tram track calcifications on ct bilaterally
hamartoma
a hamartoma is a benign focal malformation that resembles a neoplasm in the tissue of its origin this is not a malignant tumor and it grows at the same rate as the surrounding tissues it is composed of tissue elements normally found at that site but which are growing in a disorganized mass they occur in many different parts of the body and are most often asymptomatic and undetected unless seen on an image taken for another reason incidentaloma
fetal alcohol spectrum disorder
fetal alcohol spectrum disorders fasds are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy problems may include an abnormal appearance short height low body weight small head size poor coordination low intelligence behavior problems and problems with hearing or seeing those affected are more likely to have trouble in school legal problems participate in high risk behaviors and have trouble with alcohol or other drugs the most severe form of the condition is known as fetal alcohol syndrome fas other types include partial fetal alcohol syndrome pfas alcohol related neurodevelopmental disorder arnd and alcohol related birth defects arbd
fetal alcohol spectrum disorders fasds are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy problems may include an abnormal appearance short height low body weight small head size poor coordination low intelligence behavior problems and problems with hearing or seeing those affected are more likely to have trouble in school legal problems participate in high risk behaviors and have trouble with alcohol or other drugs the most severe form of the condition is known as fetal alcohol syndrome fas other types include partial fetal alcohol syndrome pfas alcohol related neurodevelopmental disorder arnd and alcohol related birth defects arbd fetal alcohol spectrum disorders are caused by drinking alcohol during pregnancy surveys from the united states have found about 10 of pregnant women have drunk alcohol in the last month and 20 to 30 drank at some point during the pregnancy about 4 7 of north american women who are pregnant have alcoholism the risk of problems depends on the amount consumed and the frequency of consumption as well as when during pregnancy the alcohol is consumed other risk factors include an older mother smoking and poor diet there is no known safe amount or safe time to drink during pregnancy while drinking small amounts of alcohol does not cause abnormalities in the face it may cause behavioral issues alcohol crosses the blood brain barrier and both directly and indirectly affects a developing baby diagnosis is based on signs and symptoms in the person fetal alcohol spectrum disorders are preventable by avoiding alcohol medical organizations recommend no alcohol during pregnancy for this reason while the condition is permanent treatment can improve outcomes interventions may include parent child interaction therapy efforts to modify child behavior and possibly medications fasd is estimated to affect between 2 and 5 of people in the united states and western europe fas is believed to occur in between 0 2 and 9 per 1000 live births in the united states in south africa some populations have rates as high as 9 the negative effects of alcohol have been described since ancient times the lifetime cost per child with fas was 2 000 000 in 2002 the term fetal alcohol syndrome was first used in 1973
kabuki syndrome
kabuki syndrome also previously known as kabuki makeup syndrome kms or niikawa – kuroki syndrome is a pediatric congenital disorder of suspected genetic origin with multiple congenital anomalies and intellectual disabilities it is quite rare affecting roughly one in 32 000 births it was identified and described in 1981 by two japanese groups led by the scientists norio niikawa and yoshikazu kuroki it is named kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in kabuki a japanese traditional theatrical form
antley – bixler syndrome
antley – bixler syndrome also called trapezoidocephaly synostosis syndrome is a rare very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body
branchio oto renal syndrome
branchio oto renal syndrome bor also known as branchiootorenal syndrome or bor syndrome is an autosomal dominant genetic disorder involving the kidneys ears and neck it often has also been described as melnick fraser syndrome
apert syndrome
apert syndrome is a form of acrocephalosyndactyly a congenital disorder characterized by malformations of the skull face hands and feet it is classified as a branchial arch syndrome affecting the first branchial or pharyngeal arch the precursor of the maxilla and mandible disturbances in the development of the branchial arches in fetal development create lasting and widespread effects
3 c syndrome
3 c syndrome also known as ccc dysplasia craniocerebellocardiac dysplasia or ritscher – schinzel syndrome is a rare condition whose symptoms include heart defects cerebellar hypoplasia and cranial dysmorphism it was first described in the medical literature in 1987 by ritscher and schinzel for whom the disorder is sometimes named
fraser syndrome
fraser syndrome also known as meyer schwickerath s syndrome fraser françois syndrome or ullrich feichtiger syndrome is an autosomal recessive congenital disorder fraser syndrome is named for the geneticist george r fraser who first described the syndrome in 1962
pierre robin syndrome
acrocephalosyndactylia
acrocephalosyndactylia or acrocephalosyndactyly is the common presentation of craniosynostosis and syndactyly
carpenter syndrome
goldenhar syndrome
goldenhar syndrome also known as oculo auriculo vertebral oav syndrome is a rare congenital defect characterized by incomplete development of the ear nose soft palate lip and mandible it is associated with anomalous development of the first branchial arch and second branchial arch common clinical manifestations include limbal dermoids preauricular skin tags and strabismus the term is sometimes used interchangeably with hemifacial microsomia although this definition is usually reserved for cases without internal organ vertebrae disruption
goldenhar syndrome also known as oculo auriculo vertebral oav syndrome is a rare congenital defect characterized by incomplete development of the ear nose soft palate lip and mandible it is associated with anomalous development of the first branchial arch and second branchial arch common clinical manifestations include limbal dermoids preauricular skin tags and strabismus the term is sometimes used interchangeably with hemifacial microsomia although this definition is usually reserved for cases without internal organ vertebrae disruption it affects between 1 3 500 to 1 26 000 live births with a male female ratio of 3 2
möbius syndrome
pfeiffer syndrome
pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones of the skull which affects the shape of the head and face in addition the syndrome includes abnormalities of the hands such as wide and deviated thumbs and feet such as wide and deviated big toes pfeiffer syndrome affects about 1 in 100 000 births
cyclopia
cyclopia also cyclocephaly or synophthalmia is a rare form of holoprosencephaly and is a congenital disorder birth defect characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities its incidence is 1 in 16 000 in born animals and 1 in 200 in miscarried fetuses
prader – willi syndrome
prader – willi syndrome pws is a genetic disorder due to loss of function of specific genes on chromosome 15 in newborns symptoms include weak muscles poor feeding and slow development in childhood the person becomes constantly hungry which often leads to obesity and type 2 diabetes there is also typically mild to moderate intellectual impairment and behavioral problems often the forehead is narrow hands and feet small height short skin light in color and they are unable to have children
noonan syndrome
noonan syndrome ns is a relatively common autosomal dominant congenital disorder and is named after jacqueline noonan a pediatric cardiologist it is referred to as the male version of turner s syndrome and is still sometimes described in this way however the genetic causes of noonan syndrome and turner syndrome are distinct the principal features include congenital heart defect typically pulmonary valve stenosis also atrial septal defect and hypertrophic cardiomyopathy short stature learning problems pectus excavatum impaired blood clotting and a characteristic configuration of facial features including a webbed neck and a flat nose bridge ns is a rasopathy and is one of several disorders that are caused by a disruption of ras mapk pathway signaling
noonan syndrome ns is a relatively common autosomal dominant congenital disorder and is named after jacqueline noonan a pediatric cardiologist it is referred to as the male version of turner s syndrome and is still sometimes described in this way however the genetic causes of noonan syndrome and turner syndrome are distinct the principal features include congenital heart defect typically pulmonary valve stenosis also atrial septal defect and hypertrophic cardiomyopathy short stature learning problems pectus excavatum impaired blood clotting and a characteristic configuration of facial features including a webbed neck and a flat nose bridge ns is a rasopathy and is one of several disorders that are caused by a disruption of ras mapk pathway signaling it is believed that between approximately 1 in 1 000 and 1 in 2 500 children worldwide are born with ns it is one of the most common genetic syndromes associated with congenital heart disease similar in frequency to down syndrome however the range and severity of features can vary greatly in patients with ns therefore the syndrome is not always identified at an early age
rapadilino syndrome
rapadilino syndrome is an autosomal recessive congenital disorder characterized by radial and patellar aplasia short stature arched or cleft palate limb malformation and dislocated joints it is more prevalent in finland than elsewhere in the world it has been associated with recql 4 this is also associated with rothmund thomson syndrome and baller gerold syndrome
aarskog – scott syndrome
aarskog – scott syndrome is a rare disease inherited as autosomal dominant or x linked and characterized by short stature facial abnormalities skeletal and genital anomalies the aarskog – scott syndrome aas is also known as the aarskog syndrome faciodigitogenital syndrome shawl scrotum syndrome and faciogenital dysplasia
robinow syndrome
robinow syndrome is an extremely rare genetic disorder characterized by short limbed dwarfism abnormalities in the head face and external genitalia as well as vertebral segmentation the disorder was first described in 1969 by human geneticist meinhard robinow along with physicians frederic n silverman and hugo d smith in the american journal of diseases of children by 2002 over 100 cases had been documented and introduced into medical literature
robinow syndrome is an extremely rare genetic disorder characterized by short limbed dwarfism abnormalities in the head face and external genitalia as well as vertebral segmentation the disorder was first described in 1969 by human geneticist meinhard robinow along with physicians frederic n silverman and hugo d smith in the american journal of diseases of children by 2002 over 100 cases had been documented and introduced into medical literature two forms of the disorder exist dominant and recessive of which the former is more common patients with the dominant version often suffer moderately from the aforementioned symptoms recessive cases on the other hand are usually more physically marked and individuals may exhibit more skeletal abnormalities the recessive form is particularly frequent in turkey however this can likely be explained by a common ancestor as these patients families can be traced to a single town in eastern turkey clusters of the autosomal recessive form have also been documented in oman and czechoslovakia the syndrome is also known as robinow silverman smith syndrome robinow dwarfism fetal face fetal face syndrome fetal facies syndrome acral dysostosis with facial and genital abnormalities or mesomelic dwarfism small genitalia syndrome the recessive form was previously known as covesdem syndrome
dubowitz syndrome
dubowitz syndrome is a rare genetic disorder characterized by microcephaly growth retardation and a characteristic facial appearance small round triangular shaped with a pointed receding chin a broad wide tipped nose and wide set eyes with drooping eyelids symptoms vary among patients but other characteristics include a soft high pitched voice partial webbing of fingers and toes palate deformations genital abnormalities eczema hyperactivity preference for concrete thinking over abstract language difficulties and aversion to crowds the pathogenesis of the disease is yet to be identified and no medical tests can definitively diagnose the disease the main method of diagnosis is through identification of facial phenotype since it was first described in 1965 by english phy
dubowitz syndrome is a rare genetic disorder characterized by microcephaly growth retardation and a characteristic facial appearance small round triangular shaped with a pointed receding chin a broad wide tipped nose and wide set eyes with drooping eyelids symptoms vary among patients but other characteristics include a soft high pitched voice partial webbing of fingers and toes palate deformations genital abnormalities eczema hyperactivity preference for concrete thinking over abstract language difficulties and aversion to crowds the pathogenesis of the disease is yet to be identified and no medical tests can definitively diagnose the disease the main method of diagnosis is through identification of facial phenotype since it was first described in 1965 by english physician victor dubowitz over 140 cases have been reported worldwide although the majority of cases have been reported from the united states germany and russia the disorder appears to affect both genders and all ethnicities equally
3 m syndrome
3 m syndrome alternative names dolichospondylic dysplasia gloomy face syndrome and le merrer syndrome is a rare hereditary growth retardation syndrome the name 3 m originates from the initials of the three authors miller mckusick and malvaux who first reported the syndrome in literature major symptoms of 3 m syndrome are dwarfism facial dysmorphia and skeletal abnormalities no signs of mental retardation are reported 3 m syndrome is thought to be inherited as an autosomal recessive genetic trait
langer mesomelic dysplasia
langer mesomelic dysplasia lmd is a rare congenital disorder characterized by an altered bone formation that causes a severe short and disproportionate stature
seckel syndrome
the seckel syndrome or microcephalic primordial dwarfism also known as bird headed dwarfism harper s syndrome virchow seckel dwarfism and bird headed dwarf of seckel is an extremely rare congenital nanosomic disorder inheritance is autosomal recessive it is characterized by intrauterine growth retardation and postnatal dwarfism with a small head narrow bird like face with a beak like nose large eyes with down slanting palpebral fissures receding mandible and intellectual disability a mouse model has been developed
smith – lemli – opitz syndrome
smith – lemli – opitz syndrome also slos or 7 dehydrocholesterol reductase deficiency is an inborn error of cholesterol synthesis it is an autosomal recessive multiple malformation syndrome caused by a mutation in the enzyme 7 dehydrocholesterol reductase or dhcr 7 it causes a broad spectrum of effects ranging from mild intellectual disability and behavioural problems to lethal malformations
cockayne syndrome
cockayne syndrome cs also called neill dingwall syndrome is a rare fatal autosomal recessive neurodegenerative disorder characterized by growth failure impaired development of the nervous system abnormal sensitivity to sunlight photosensitivity eye disorders and premature aging failure to thrive and neurological disorders are criteria for diagnosis while photosensitivity hearing loss eye abnormalities and cavities are other very common features problems with any or all of the internal organs are possible it is associated with a group of disorders called leukodystrophies which are conditions characterized by degradation of neurological white matter the underlying disorder is a defect in a dna repair mechanism unlike other defects of dna repair patients with cs are not pr
cockayne syndrome cs also called neill dingwall syndrome is a rare fatal autosomal recessive neurodegenerative disorder characterized by growth failure impaired development of the nervous system abnormal sensitivity to sunlight photosensitivity eye disorders and premature aging failure to thrive and neurological disorders are criteria for diagnosis while photosensitivity hearing loss eye abnormalities and cavities are other very common features problems with any or all of the internal organs are possible it is associated with a group of disorders called leukodystrophies which are conditions characterized by degradation of neurological white matter the underlying disorder is a defect in a dna repair mechanism unlike other defects of dna repair patients with cs are not predisposed to cancer or infection cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life the mutation of specific genes in cockayne syndrome is known but the widespread effects and its relationship with dna repair is yet to be well understood it is named after english physician edward alfred cockayne 1880 – 1956 who first described it in 1936 and re described in 1946 neill dingwall syndrome was named after mary m dingwall and catherine a neill these women described the case of two brothers with cockayne syndrome and asserted it was the same disease described by cockayne in their article the women contributed to the symptoms of the disease through their discovery of calcifications in the brain they also compared cockayne syndrome to what is now known as hutchinson – gilford progeria syndrome hgps then called progeria due to the advanced aging that characterizes both disorders
silver – russell syndrome
silver – russell dwarfism also called silver – russell syndrome srs or russell – silver syndrome rss is a growth disorder occurring in approximately 1 50 000 to 1 100 000 births in the united states it is usually referred to as russell – silver syndrome and silver – russell syndrome elsewhere it is one of 200 types of dwarfism and one of five types of primordial dwarfism and is one of the few forms that is considered treatable in some cases there is no statistical significance of the syndrome occurring preferentially in either males or females
sjögren – larsson syndrome
sjögren – larsson syndrome sls is an autosomal recessive form of ichthyosis apparent at birth sjögren – larsson syndrome is a rare autosomal recessive neurocutaneous disease this disease can be identified by a triad of medical disorders the first is ichthyosis which is a buildup of skin to form a scale like covering that causes dry skin and other problems the second identifier is spastic paraplegia which is characterized by leg spasms the final identifier is intellectual delay the gene of sls is found on chromosome 17 in order for a child to receive sls both parents must be carriers of the sls gene if they are carriers their child has a ¼ chance of getting the disease in 1957 sjogren and larsson proposed that the swedes with the disease all descended from a common ancestor 600 yea
cornelia de lange syndrome
cornelia de lange syndrome cdls is a very rare genetic disorder present from birth but not always diagnosed at birth it causes a range of physical cognitive and medical challenges and affects both sexes equally the syndrome is named after dutch pediatrician cornelia catharina de lange who described it it is often termed bushy syndrome and is also known as amsterdam dwarfism it is a genetic disorder that can lead to severe developmental anomalies it affects the physical and intellectual development of a child exact incidence is unknown but it is estimated at 1 in 10 000 to 30 000
sirenomelia
sirenomelia alternatively known as mermaid syndrome is a rare congenital deformity in which the legs are fused together giving them the appearance of a mermaid s tail this condition is found in approximately one out of every 100 000 live births about as rare as conjoined twins and is usually fatal within a day or two of birth because of complications associated with abnormal kidney and urinary bladder development and function more than half the cases of sirenomelia result in stillbirth and this condition is 100 times more likely to occur in identical twins than in single births or fraternal twins it results from a failure of normal vascular supply from the lower aorta in utero maternal diabetes has been associated with caudal regression syndrome and sirenomelia although a few sou
sirenomelia alternatively known as mermaid syndrome is a rare congenital deformity in which the legs are fused together giving them the appearance of a mermaid s tail this condition is found in approximately one out of every 100 000 live births about as rare as conjoined twins and is usually fatal within a day or two of birth because of complications associated with abnormal kidney and urinary bladder development and function more than half the cases of sirenomelia result in stillbirth and this condition is 100 times more likely to occur in identical twins than in single births or fraternal twins it results from a failure of normal vascular supply from the lower aorta in utero maternal diabetes has been associated with caudal regression syndrome and sirenomelia although a few sources question this association vacterl h is an expanded form of the vacterl association that concludes that this diagnosis is a less severe form of sirenomelia the disorder was formerly thought to be an extreme case of caudal regression syndrome however it was reclassified to be considered a separate condition
holt – oram syndrome
holt – oram syndrome is an autosomal dominant disorder that affects bones in the arms and hands the upper limbs and may also cause heart problems the syndrome includes an absent radial bone in the arms an atrial septal defect and a first degree heart block holt – oram syndrome is considered to be a phenocopy of thalidomide since both the genetic disorder and the teratogenic effects have similar presentations in individuals
tar syndrome
vacterl association
the vacterl association also vater association refers to the non random co occurrence of birth defects vertebral anomalies anal atresia cardiac defects tracheoesophageal fistula and or esophageal atresia renal radial anomalies and limb defects the reason it is called an association rather than a syndrome is that while the complications are not pathogenically related they tend to occur together more frequently than expected by chance in general the etiology of associations is not defined
the vacterl association also vater association refers to the non random co occurrence of birth defects vertebral anomalies anal atresia cardiac defects tracheoesophageal fistula and or esophageal atresia renal radial anomalies and limb defects the reason it is called an association rather than a syndrome is that while the complications are not pathogenically related they tend to occur together more frequently than expected by chance in general the etiology of associations is not defined each child with this condition can be unique at present this condition is treated after birth with issues being approached one at a time some infants are born with symptoms that cannot be fixed and they do not survive causes of this association are debated though it appears to be genetic according to certain studies also vacterl association can be linked to other similar conditions such as klippel feil and goldenhar syndrome including crossovers of conditions no specific genetic or chromosome problem has been identified with vacterl association vacterl can be seen with some chromosomal defects such as trisomy 18 and is more frequently seen in babies of diabetic mothers vacterl association however is most likely caused by multiple factors vacterl association specifically refers to the abnormalities in structures derived from the embryonic mesoderm
rubinstein – taybi syndrome
rubinstein – taybi syndrome rts also known as broad thumb hallux syndrome or rubinstein syndrome is a condition characterized by short stature moderate to severe learning difficulties distinctive facial features and broad thumbs and first toes other features of the disorder vary among affected individuals people with this condition have an increased risk of developing noncancerous and cancerous tumors leukemia and lymphoma this condition is sometimes inherited as an autosomal dominant pattern and is uncommon many times it occurs as a de novo not inherited occurrence it occurs in an estimated 1 in 125 000 300 000 births
klippel – trénaunay syndrome
nail – patella syndrome
nail – patella syndrome nps also known as hood syndrome is a genetic disorder that results in small poorly developed nails and kneecaps but can also affect many other areas of the body such as the elbows chest and hips the name nail – patella can be very misleading because the syndrome often affects many other areas of the body including even the production of certain proteins those affected by nps may have one or more affected areas of the body and its severity varies depending on the individual it is also referred to as iliac horn syndrome hereditary onychoosteodysplasia hood syndrome fong disease or turner – kieser syndrome
nail – patella syndrome nps also known as hood syndrome is a genetic disorder that results in small poorly developed nails and kneecaps but can also affect many other areas of the body such as the elbows chest and hips the name nail – patella can be very misleading because the syndrome often affects many other areas of the body including even the production of certain proteins those affected by nps may have one or more affected areas of the body and its severity varies depending on the individual it is also referred to as iliac horn syndrome hereditary onychoosteodysplasia hood syndrome fong disease or turner – kieser syndrome diagnosis of nps can be made at birth but is common for it to remain undiagnosed for several generations while there is no cure available for nps treatment is available and recommended
beckwith – wiedemann syndrome
beckwith – wiedemann syndrome ˈbɛkˌwɪθ ˈviːdə mən abbreviated bws is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features beckwith syndrome can also cause child behavior problems common features used to define bws are macroglossia large tongue macrosomia above average birth weight and length midline abdominal wall defects omphalocele exomphalos umbilical hernia diastasis recti ear creases or ear pits neonatal hypoglycemia low blood sugar after birth hepatoblastoma
sotos syndrome
sotos syndrome cerebral gigantism or sotos dodge syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life excessive growth often starts in infancy and continues into the early teen years the disorder may be accompanied by autism mild intellectual disability delayed motor cognitive and social development hypotonia low muscle tone and speech impairments children with sotos syndrome tend to be large at birth and are often taller heavier and have relatively large skulls macrocephaly than is normal for their age signs of the disorder which vary among individuals include a disproportionately large skull with a slightly protrusive forehead large hands and feet large mandible hypertelorism an abnormally increased distance
simpson – golabi – behmel syndrome
simpson – golabi – behmel syndrome sgbs also called bulldog syndrome sara agers syndrome golabi – rosen syndrome simpson dysmorphia syndrome sdys or x linked dysplasia gigantism syndrome dgsx is a rare inherited congenital disorder that can cause craniofacial skeletal cardiac and renal abnormalities the syndrome is inherited in an x linked recessive fashion where males express the phenotype and females usually do not females that possess one copy of the mutation are considered to be carriers of the syndrome and may express varying degrees of the phenotype
simpson – golabi – behmel syndrome sgbs also called bulldog syndrome sara agers syndrome golabi – rosen syndrome simpson dysmorphia syndrome sdys or x linked dysplasia gigantism syndrome dgsx is a rare inherited congenital disorder that can cause craniofacial skeletal cardiac and renal abnormalities the syndrome is inherited in an x linked recessive fashion where males express the phenotype and females usually do not females that possess one copy of the mutation are considered to be carriers of the syndrome and may express varying degrees of the phenotype there are two types of sgbs each found on a different gene sgbs is also considered to be an overgrowth syndrome ogs ogs is characterized by a 2 3 standard deviation increase in weight height or head circumference above the average for sex and age one of the most noted features of ogs is the increased risk of neoplasms in certain ogss sgbs in particular has been found to have a 10 tumor predisposition frequency with 94 of cases occurring in the abdominal region most being malignant it is common for tumors to be embryonal in type and appear before the age of 10 there are five different types of tumors that patients with sgbs might develop all intra abdominal wilms tumor hepatoblastoma hepatocarcinoma gonadoblastoma and neuroblastoma the most common types of tumors developed in patients are the wilms tumor and hepatoblastoma
weaver syndrome
marfan syndrome
marfan syndrome mfs is a genetic disorder of connective tissue the degree to which people are affected varies people with marfan s tend to be tall and thin with long arms legs fingers and toes they also typically have flexible joints and scoliosis the most serious complications involve the heart and aorta with an increased risk of mitral valve prolapse and aortic aneurysm other commonly affected areas include the lungs eyes bones and the covering of the spinal cord
arachnodactyly
cardiofaciocutaneous syndrome
cardiofaciocutaneous syndrome cfc is an extremely rare and serious genetic disorder it is characterized by the following distinctive facial appearance unusually sparse brittle curly scalp hair a range of skin abnormalities from dermatitis to thick scaly skin over the entire body generalized ichthyosis heart malformations congenital or appearing later especially an obstruction of the normal flow of blood from the lower right ventricle of the heart to the lungs valvar pulmonary stenosis delayed growth foot abnormalities extra toe or fusion of two or more toes
coffin – lowry syndrome
coffin – lowry syndrome is a genetic disorder that is x linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth cardiac abnormalities kyphoscoliosis as well as auditory and visual abnormalities
neu laxova syndrome
neu – laxova syndrome also known as neu syndrome or neu povysilová syndrome abbreviated as nls is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations neu – laxova syndrome is a very severe disorder leading to stillbirth or neonatal death it was first described by dr richard neu in 1971 and dr renata laxova in 1972 as a lethal disorder in siblings with multiple malformations neu – laxova syndrome is an extremely rare disorder with less than 100 cases reported in medical literature
alström syndrome
alström syndrome also called alstrom halgren syndrome is a rare genetic disorder caused by mutations in the gene alms 1 it is among the rarest genetic disorders in the world as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries it was first described by carl henry alström in sweden in 1959 alstrom syndrome is sometimes confused with bardet biedl syndrome which has similar symptoms bardet biedl syndrome tends to have later onset in its symptoms the likelihood of two carrier parents both passing the gene and therefore having a child affected by the syndrome is 25 with each pregnancy the likelihood of having a child who is only a carrier of the gene is 50 with each pregnancy the likelihood of a child receiving normal genes from
alström syndrome also called alstrom halgren syndrome is a rare genetic disorder caused by mutations in the gene alms 1 it is among the rarest genetic disorders in the world as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries it was first described by carl henry alström in sweden in 1959 alstrom syndrome is sometimes confused with bardet biedl syndrome which has similar symptoms bardet biedl syndrome tends to have later onset in its symptoms the likelihood of two carrier parents both passing the gene and therefore having a child affected by the syndrome is 25 with each pregnancy the likelihood of having a child who is only a carrier of the gene is 50 with each pregnancy the likelihood of a child receiving normal genes from both parents and being considered to be genetically normal is 25 the risk for carrying the gene is equivalent for both males and females according to a 2007 article by joy et al published in the orphanet journal of rare diseases alström syndrome as is a rare autosomal recessive disease characterized by multiorgan dysfunction the key features are childhood obesity blindness due to congenital retinal dystrophy and sensorineural hearing loss associated endocrinologic features include hyperinsulinemia early onset type 2 diabetes and hypertriglyceridemia thus as shares several features with the common metabolic syndrome namely obesity hyperinsulinemia and hypertriglyceridemia mutations in the alms 1 gene have been found to be causative for as with a total of 79 disease causing mutations having been described prevalence estimates have ranged from 1 in 10 000 to fewer than 1 in 1 000 000 individuals in the general population
door syndrome
door deafness onychdystrophy osteodystrophy and mental retardation syndrome is a genetic disease which is inherited in an autosomal recessive fashion door syndrome is characterized by mental retardation sensorineural deafness abnormal nails and phalanges of the hands and feet and variable seizures a similar deafness onychodystrophy syndrome is transmitted as an autosomal dominant trait and has no mental retardation some authors have proposed that it may be the same as eronen syndrome but since both disorders are extremely rare it is hard to make a determination
charge syndrome
alport syndrome
alport syndrome is a genetic disorder affecting around 1 in 50 000 children characterized by glomerulonephritis end stage kidney disease and hearing loss alport syndrome can also affect the eyes though the changes do not usually affect sight except when changes to the lens occur in later life blood in urine is universal proteinuria is a feature as kidney disease progresses
yunis – varon syndrome
yunis – varon syndrome yvs also called cleidocranial dysplasia with micrognathia absent thumbs and distal aphalangia is an extremely rare autosomal recessive multisystem congenital disorder which affects the skeletal system ectodermal tissue heart and respiratory system
stickler syndrome
stickler syndrome hereditary progressive arthro ophthalmopathy is a group of genetic disorders affecting connective tissue specifically collagen stickler syndrome is a subtype of collagenopathy types ii and xi stickler syndrome is characterized by distinctive facial abnormalities ocular problems hearing loss and joint problems it was first studied and characterized by gunnar b stickler in 1965
townes – brocks syndrome
townes – brocks syndrome tbs is a rare genetic disease that has been described in approximately 200 cases in the published literature it affects both males and females equally the condition was first identified in 1972 by philip l townes md phd who was at the time a human geneticists and professor of pediatrics and eric brocks md who was at the time a medical student both at the university of rochester
bardet – biedl syndrome
bardet – biedl syndrome bbs is a ciliopathic human genetic disorder that produces many effects and affects many body systems it is characterized principally by obesity retinitis pigmentosa polydactyly hypogonadism and renal failure in some cases historically slower mental processing has also been considered a principal symptom but is now not regarded as such
zellweger syndrome
zellweger syndrome also called cerebrohepatorenal syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual it is one of a family of disorders called leukodystrophies zellweger syndrome is named after hans zellweger 1909 – 1990 a swiss american pediatrician a professor of pediatrics and genetics at the university of iowa who researched this disorder
accessory spleen
an accessory spleen supernumerary spleen splenule or splenunculus is a small nodule of splenic tissue found apart from the main body of the spleen accessory spleens are found in approximately 10 percent of the population and are typically around 1 centimeter in diameter they may resemble a lymph node or a small spleen they form either by the result of developmental anomalies or trauma they are medically significant in that they may result in interpretation errors in diagnostic imaging or continued symptoms after therapeutic splenectomy
splenomegaly
splenomegaly is an enlargement of the spleen the spleen usually lies in the left upper quadrant luq of the human abdomen splenomegaly is one of the four cardinal signs of hypersplenism which include some reduction in the number of circulating blood cells affecting granulocytes erythrocytes or platelets in any combination a compensatory proliferative response in the bone marrow and the potential for correction of these abnormalities by splenectomy splenomegaly is usually associated with increased workload such as in hemolytic anemias which suggests that it is a response to hyperfunction it is therefore not surprising that splenomegaly is associated with any disease process that involves abnormal red blood cells being destroyed in the spleen other common causes include congesti
splenomegaly is an enlargement of the spleen the spleen usually lies in the left upper quadrant luq of the human abdomen splenomegaly is one of the four cardinal signs of hypersplenism which include some reduction in the number of circulating blood cells affecting granulocytes erythrocytes or platelets in any combination a compensatory proliferative response in the bone marrow and the potential for correction of these abnormalities by splenectomy splenomegaly is usually associated with increased workload such as in hemolytic anemias which suggests that it is a response to hyperfunction it is therefore not surprising that splenomegaly is associated with any disease process that involves abnormal red blood cells being destroyed in the spleen other common causes include congestion due to portal hypertension and infiltration by leukemias and lymphomas thus the finding of an enlarged spleen along with caput medusa is an important sign of portal hypertension
thyroglossal cyst
a thyroglossal cyst is a fibrous cyst that forms from a persistent thyroglossal duct thyroglossal cysts can be defined as an irregular neck mass or a lump which had developed from cells and tissues left over after the formation of the thyroid gland during developmental stages thyroglossal cysts are the most common cause of midline neck masses and are generally located substandard to the hyoid bone yet these neck masses can occur anywhere along the path of the thyroid gland from the base of the tongue to the suprasternal notch
situs inversus
situs inversus also called situs transversus or oppositus is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions the normal arrangement of internal organs is known as situs solitus while situs inversus is generally the mirror image of situs solitus although cardiac problems are more common than in the general population most people with situs inversus have no medical symptoms or complications resulting from the condition and until the advent of modern medicine it was usually undiagnosed
caudal regression syndrome
caudal regression syndrome or sacral agenesis or hypoplasia of the sacrum is a congenital disorder in which there is abnormal fetal development of the lower spine — the caudal partition of the spine it occurs at a rate of approximately one per 25 000 live births
down syndrome
down syndrome ds or dns also known as trisomy 21 is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21 it is typically associated with physical growth delays characteristic facial features and mild to moderate intellectual disability the average iq of a young adult with down syndrome is 50 equivalent to the mental age of an 8 or 9 year old child but this can vary widely
down syndrome ds or dns also known as trisomy 21 is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21 it is typically associated with physical growth delays characteristic facial features and mild to moderate intellectual disability the average iq of a young adult with down syndrome is 50 equivalent to the mental age of an 8 or 9 year old child but this can vary widely the parents of the affected individual are typically genetically normal the extra chromosome occurs by random chance the risk increases from less than 0 1 in 20 year old mothers to 3 in those age 45 there is no known behavioral activity or environmental factor that changes the risk down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing since the introduction of screening pregnancies with the diagnosis are often terminated regular screening for health problems common in down syndrome is recommended throughout the person s life there is no cure for down syndrome education and proper care have been shown to improve quality of life some children with down syndrome are educated in typical school classes while others require more specialized education some individuals with down syndrome graduate from high school and a few attend post secondary education in adulthood about 20 in the united states do paid work in some capacity with many requiring a sheltered work environment support in financial and legal matters is often needed life expectancy is around 50 to 60 years in the developed world with proper health care down syndrome is one of the most common chromosome abnormalities in humans it occurs in about one per 1000 babies born each year in 2013 down syndrome was present in 8 5 million individuals and resulted in 36 000 deaths down from 43 000 deaths in 1990 it is named after john langdon down the british doctor who fully described the syndrome in 1866 some aspects of the condition were described earlier by jean étienne dominique esquirol in 1838 and édouard séguin in 1844 the genetic cause of down syndrome — an extra copy of chromosome 21 — was identified by french researchers in 1959
trisomy
a trisomy is a type of polysomy in which there are three instances of a particular chromosome instead of the normal two a trisomy is a type of aneuploidy an abnormal number of chromosomes
aneuploidy
aneuploidy is the presence of an abnormal number of chromosomes in a cell for example a human cell having 45 or 47 chromosomes instead of the usual 46 it does not include a difference of one or more complete sets of chromosomes which is called euploidy an extra or missing chromosome is a common cause of genetic disorders including some human birth defects some cancer cells also have abnormal numbers of chromosomes aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells
edwards syndrome
edwards syndrome also known as trisomy 18 is a genetic disorder caused by the presence of all or part of a third copy of chromosome 18 many parts of the body are affected babies are often born small and have heart defects other features include a small head small jaw clenched fists with overlapping fingers and severe intellectual disability treatment is supportive after having one child with the condition the risk of having a second is typically around one percent it is the second most frequent condition due to a third chromosome at birth after down syndrome
patau syndrome
patau syndrome is a syndrome caused by a chromosomal abnormality in which some or all of the cells of the body contain extra genetic material from chromosome 13 the extra genetic material disrupts normal development causing multiple and complex organ defects like all nondisjunction conditions such as down syndrome and edwards syndrome the risk of this syndrome in the offspring increases with maternal age at pregnancy with about 31 years being the average patau syndrome affects somewhere between 1 in 10 000 and 1 in 21 700 live births
trisomy 9
full trisomy 9 is a lethal chromosomal disorder caused by having three copies trisomy of chromosome number 9 it can be a viable condition if trisomy affects only part of the cells of the body mosaicism or in cases of partial trisomy trisomy 9 p in which cells have a normal set of two entire chromosomes 9 plus part of a third copy usually of the short arm of the chromosome arm p
trisomy 8
triploid syndrome
triploid syndrome also called triploidy is an extremely rare chromosomal disorder in which a fetus has three copies of every chromosome instead of the normal two if this occurs in only some cells it is called mosaic triploidy and is less severe
22 q 13 deletion syndrome
22 q 13 deletion syndrome spoken as twenty two q one three is a genetic disorder caused by deletions or rearrangements on the q terminal end long arm of chromosome 22 any abnormal genetic variation in the q 13 region that presents with significant manifestations phenotype typical of a terminal deletion should be diagnosed as 22 q 13 deletion syndrome 22 q 13 deletion syndrome is often placed in the more general category of phelan mcdermid syndrome abbreviated pms which includes some mutations and microdeletions the pms name is less precise since there is disagreement among researchers as to which variants belong in the pms category the developmental synaptopathies consortium defines pms as being caused by shank 3 mutations a definition that excludes terminal deletions this latter d
22 q 13 deletion syndrome spoken as twenty two q one three is a genetic disorder caused by deletions or rearrangements on the q terminal end long arm of chromosome 22 any abnormal genetic variation in the q 13 region that presents with significant manifestations phenotype typical of a terminal deletion should be diagnosed as 22 q 13 deletion syndrome 22 q 13 deletion syndrome is often placed in the more general category of phelan mcdermid syndrome abbreviated pms which includes some mutations and microdeletions the pms name is less precise since there is disagreement among researchers as to which variants belong in the pms category the developmental synaptopathies consortium defines pms as being caused by shank 3 mutations a definition that excludes terminal deletions this latter definition of pms is incompatible with the definition of 22 q 13 deletion syndrome by those who first described 22 q 13 deletion syndrome a prototypical terminal deletion of 22 q 13 can be uncovered by karyotype analysis but many terminal and interstitial deletions are too small the availability of dna microarray technology for revealing multiple genetic problems simultaneously has been the diagnostic tool of choice the falling cost for whole exome sequencing and eventually whole genome sequencing may replace dna microarray technology for candidate evaluation however fluorescence in situ hybridization fish tests remain valuable for diagnosing cases of mosaicism mosaic genetics and chromosomal rearrangements e g ring chromosome unbalanced chromosomal translocation although early researchers sought a monogenic single gene genetic disorder explanation recent studies have not supported that hypothesis see etiology below
wolf – hirschhorn syndrome
cri du chat
cri du chat syndrome also known as chromosome 5 p deletion syndrome 5 p − said minus syndrome or lejeune ’ s syndrome is a rare genetic disorder due to a missing part deletion of chromosome 5 its name is a french term cat cry or call of the cat referring to the characteristic cat like cry of affected children it was first described by jérôme lejeune in 1963 the condition affects an estimated 1 in 50 000 live births across all ethnicities and is more common in females by a 4 3 ratio
1 q 21 1 deletion syndrome
1 q 21 1 deletion syndrome or 1 q 21 1 recurrent microdeletion is a rare aberration of chromosome 1 a human cell has one pair of identical chromosomes on chromosome 1 with the 1 q 21 1 deletion syndrome one chromosome of the pair is not complete because a part of the sequence of the chromosome is missing one chromosome has the normal length and the other is too short in 1 q 21 1 the 1 stands for chromosome 1 the q stands for the long arm of the chromosome and 21 1 stands for the part of the long arm in which the deletion is situated
1 q 21 1 deletion syndrome or 1 q 21 1 recurrent microdeletion is a rare aberration of chromosome 1 a human cell has one pair of identical chromosomes on chromosome 1 with the 1 q 21 1 deletion syndrome one chromosome of the pair is not complete because a part of the sequence of the chromosome is missing one chromosome has the normal length and the other is too short in 1 q 21 1 the 1 stands for chromosome 1 the q stands for the long arm of the chromosome and 21 1 stands for the part of the long arm in which the deletion is situated the syndrome is a form of the 1 q 21 1 copy number variations and it is a deletion in the distal area of the 1 q 21 1 part the cnv leads to a very variable phenotype and the manifestations in individuals are quite variable some people who have the syndrome can function in a normal way while others have symptoms of mental retardation and various physical anomalies 1 q 21 1 microdeletion is a very rare chromosomal condition only 46 individuals with this deletion have been reported in medical literature as of august 2011
angelman syndrome
angelman syndrome as is a neurodevelopmental disorder characterized by severe intellectual and developmental disability sleep disturbance seizures jerky movements especially hand flapping frequent laughter or smiling and usually a happy demeanor
smith – magenis syndrome
smith – magenis syndrome sms is a developmental disorder affecting the body and brain features include intellectual disability facial features such as a broad face difficulty sleeping and numerous behavioral problems smith – magenis syndrome affects an estimated 1 in 25 000 individuals it is a microdeletion syndrome characterized by an abnormality in the short p arm of chromosome 17 and is sometimes called the 17 p syndrome
williams syndrome
williams syndrome ws also known as williams – beuren syndrome wbs is a rare neurodevelopmental disorder characterized by a distinctive elfin facial appearance along with a low nasal bridge an unusually cheerful demeanor and ease with strangers developmental delay coupled with language deficiencies profound visuo spatial impairments and cardiovascular problems such as supravalvular aortic stenosis and transient high blood calcium
turner syndrome
turner syndrome ts also known as 45 x is a condition in which a female is partly or completely missing an x chromosome signs and symptoms vary among those affected often a short and webbed neck low set ears low hairline at the back of the neck short stature and swollen hands and feet are seen at birth typically they are without menstrual periods do not develop breasts and are unable to have children heart defects diabetes and low thyroid hormone occur more frequently most people with ts have normal intelligence many however have troubles with spatial visualization such as that needed for mathematics vision and hearing problems occur more often
turner syndrome ts also known as 45 x is a condition in which a female is partly or completely missing an x chromosome signs and symptoms vary among those affected often a short and webbed neck low set ears low hairline at the back of the neck short stature and swollen hands and feet are seen at birth typically they are without menstrual periods do not develop breasts and are unable to have children heart defects diabetes and low thyroid hormone occur more frequently most people with ts have normal intelligence many however have troubles with spatial visualization such as that needed for mathematics vision and hearing problems occur more often turner syndrome is not usually inherited from a person s parents no environmental risks are known and the mother s age does not play a role turner syndrome is due to a chromosomal abnormality in which all or part of one of the x chromosomes is missing or altered while most people have 46 chromosomes people with ts usually have 45 the chromosomal abnormality may be present in just some cells in which case it is known as ts with mosaicism in these cases the symptoms are usually fewer and possibly none occur at all diagnosis is based on physical signs and genetic testing no cure for turner syndrome is known treatment however may help with symptoms human growth hormone injections during childhood may increase adult height estrogen replacement therapy can promote development of the breasts and hips medical care is often required to manage other health problems with which ts is associated turner syndrome occurs in between one in 2000 and one in 5000 females at birth all regions of the world and cultures are affected about equally generally people with ts have a shorter life expectancy mostly due to heart problems and diabetes henry turner first described the condition in 1938 in 1964 it was determined to be due to a chromosomal abnormality
triple x syndrome
triple x syndrome also known as trisomy x and 47 xxx is characterized by the presence of an extra x chromosome in each cell of a female those affected are often taller than average usually there is no other physical differences and normal fertility occasionally there are learning difficulties decreased muscle tone seizures or kidney problems
klinefelter syndrome
klinefelter syndrome ks also known as 47 xxy or xxy is the set of symptoms that result from two or more x chromosomes in males the primary feature is sterility often symptoms may be subtle and many people do not realize they are affected sometimes symptoms are more prominent and may include weaker muscles greater height poor coordination less body hair smaller genitals breast growth and less interest in sex often it is only at puberty that these symptoms are noticed intelligence is usually normal however reading difficulties and problems with speech are more common symptoms are typically more severe if three or more x chromosomes are present
xyy syndrome
xyy syndrome is a genetic condition in which a human male has an extra male y chromosome giving a total of 47 chromosomes instead of the more usual 46 this produces a 47 xyy karyotype which occurs every 1 in 1 000 male births some medical geneticists question whether the term syndrome is appropriate for this condition because its clinical phenotype is normal and the vast majority of xyy males do not know their karyotype
gonadal dysgenesis
gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by a progressive loss of germ cells on the developing gonads of an embryo this loss leads to extremely hypoplastic underdeveloped and dysfunctioning gonads mainly composed of fibrous tissue hence the name streak gonads — i e a form of aplasia in which the ovary is replaced by functionless tissue the accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex resulting in a sexually infantile female appearance and infertility
gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by a progressive loss of germ cells on the developing gonads of an embryo this loss leads to extremely hypoplastic underdeveloped and dysfunctioning gonads mainly composed of fibrous tissue hence the name streak gonads — i e a form of aplasia in which the ovary is replaced by functionless tissue the accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex resulting in a sexually infantile female appearance and infertility the first type of gonadal dysgenesis discovered was turner syndrome
fragile x syndrome
fragile x syndrome fxs is a genetic disorder symptoms often include mild to moderate intellectual disability physical features may include a long and narrow face large ears flexible fingers and large testicles about a third of people have features of autism such as problems with social interactions and delayed speech hyperactivity is common and seizures occur in about 10 males are usually more affected than females
fragile x syndrome fxs is a genetic disorder symptoms often include mild to moderate intellectual disability physical features may include a long and narrow face large ears flexible fingers and large testicles about a third of people have features of autism such as problems with social interactions and delayed speech hyperactivity is common and seizures occur in about 10 males are usually more affected than females fragile x syndrome is typically due to the expansion of the cgg triplet repeat within the fragile x mental retardation 1 fmr 1 gene on the x chromosome this results in a failure to express the fragile x mental retardation protein fmrp which is required for normal neural development depending on the length of the cgg repeat an allele may be classified as normal unaffected by the syndrome a premutation at risk of fragile x associated disorders or full mutation usually affected by the syndrome a diagnosis of fragile x syndrome is made through genetic testing to determine the number of cgg repeats testing for premutation carriers may allow for genetic counseling there is no medication that has a benefit specifically for fragile x syndrome medications are commonly used to treat symptoms of attention deficit and hyperactivity anxiety and aggression supportive management is important in optimizing functioning in individuals with fragile x syndrome and may involve speech therapy occupational therapy and individualized educational and behavioral programs fragile x syndrome occurs in about 1 in 4 000 males and 1 in 8 000 females the first complete dna sequence of the repeat expansion in someone with the full mutation was generated by scientists in 2012 using smrt sequencing
pallister – killian syndrome
pallister – killian syndrome also tetrasomy 12 p mosaicism or pallister mosaic aneuploidy syndrome is an extremely rare genetic disorder occurring in humans pallister killian occurs due to the presence of the anomalous extra isochromosome 12 p the short arm of the twelfth chromosome this leads to the development of tetrasomy 12 p because not all cells have the extra isochromosome pallister killian is a mosaic condition more readily detected in skin fibroblasts it was first described by philip pallister in 1977 and further researched by maria teschler nicola and wolfgang killian in 1981
uniparental disomy
gangrene
gangrene or gangrenous necrosis is a type of necrosis caused by a critically insufficient blood supply this potentially life threatening condition may occur after an injury or infection or in people suffering from any chronic health problem affecting blood circulation the primary cause of gangrene is reduced blood supply to the affected tissues which results in cell death diabetes and long term smoking increase the risk of suffering from gangrene
gangrene or gangrenous necrosis is a type of necrosis caused by a critically insufficient blood supply this potentially life threatening condition may occur after an injury or infection or in people suffering from any chronic health problem affecting blood circulation the primary cause of gangrene is reduced blood supply to the affected tissues which results in cell death diabetes and long term smoking increase the risk of suffering from gangrene gangrene is not a communicable disease it does not spread from person to person the types of gangrene differ in symptoms and include dry gangrene wet gangrene gas gangrene internal gangrene and necrotizing fasciitis treatment depends on the underlying cause and can include resection debridement or in severe cases amputation of the affected body parts antibiotics revascularization via a vascular bypass or angioplasty or hyperbaric oxygen therapy it can rarely include medical therapy to stop vascular spasm or the production of cold induced vascular obstruction by cold precipitated cryoglobulins
nosebleed
epistaxis also known as a nosebleed is the common occurrence of bleeding from the nose it is usually noticed when the blood drains out through the nostrils there are two types anterior the most common and posterior less common more likely to require medical attention sometimes in more severe cases the blood can come up the nasolacrimal duct and out from the eye fresh blood and clotted blood can also flow down into the stomach and cause nausea and vomiting
hypercapnia
hypercapnia also known as hypercarbia and co 2 retention is a condition of abnormally elevated carbon dioxide co 2 levels in the blood carbon dioxide is a gaseous product of the body s metabolism and is normally expelled through the lungs hypercapnia normally triggers a reflex which increases breathing and access to oxygen o such as arousal and turning the head during sleep a failure of this reflex can be fatal for example as a contributory factor in sudden infant death syndrome
hypercapnia also known as hypercarbia and co 2 retention is a condition of abnormally elevated carbon dioxide co 2 levels in the blood carbon dioxide is a gaseous product of the body s metabolism and is normally expelled through the lungs hypercapnia normally triggers a reflex which increases breathing and access to oxygen o such as arousal and turning the head during sleep a failure of this reflex can be fatal for example as a contributory factor in sudden infant death syndrome hypercapnia is the opposite of hypocapnia the state of having abnormally reduced levels of carbon dioxide in the blood the word is from the greek hyper above or too much and kapnos smoke
post nasal drip
post nasal drip pnd also termed upper airway cough syndrome uacs or post nasal drip syndrome pnds occurs when excessive mucus is produced by the nasal mucosa the excess mucus accumulates in the throat or back of the nose it is caused by rhinitis sinusitis gastroesophageal reflux disease gerd or by a disorder of swallowing such as an esophageal motility disorder it is frequently caused by an allergy which may be seasonal or persistent throughout the year
acute abdomen
colic
colic from greek κολικός kolikos relative to the colon or cholic is a form of pain that starts and stops abruptly it occurs due to muscular contractions of a hollow tube colon ureter gall bladder etc in an attempt to relieve an obstruction by forcing content out it may be accompanied by vomiting and sweating types include
colic from greek κολικός kolikos relative to the colon or cholic is a form of pain that starts and stops abruptly it occurs due to muscular contractions of a hollow tube colon ureter gall bladder etc in an attempt to relieve an obstruction by forcing content out it may be accompanied by vomiting and sweating types include baby colic a condition usually in infants characterized by incessant crying renal colic a pain in the flank characteristic of kidney stones biliary colic blockage by a gallstone of the common bile duct or cystic duct horse colic a potentially fatal condition experienced by horses caused by intestinal displacement or blockage devon colic an affliction caused by lead poisoning painter s colic or lead poisoning
baby colic
baby colic also known as infantile colic is defined as episodes of crying for more than three hours a day for more than three days a week for three weeks in an otherwise healthy child often crying occurs in the evening it typically does not result in long term problems the crying can cause frustration for the parents depression following delivery excess visits to the doctor and child abuse
baby colic also known as infantile colic is defined as episodes of crying for more than three hours a day for more than three days a week for three weeks in an otherwise healthy child often crying occurs in the evening it typically does not result in long term problems the crying can cause frustration for the parents depression following delivery excess visits to the doctor and child abuse the cause of colic is unknown some believe it is due to gastrointestinal discomfort like intestinal cramping diagnosis requires ruling out other possible causes concerning findings include a fever poor activity or a swollen abdomen fewer than 5 of infants with excess crying have an underlying organic disease treatment is generally conservative with little to no role for either medications or alternative therapies extra support for the parents may be useful tentative evidence supports probiotics in those who are breastfeed and hydrolyzed formula in those who are bottlefeed colic affects 10 – 40 of children it is most common at six weeks of age and typically goes away by six months of age it rarely lasts up to one year of age it occurs at the same rate in boys and in girls the first detailed medical description of the problem occurred in 1954
fecal vomiting
fecal vomiting also called feculent vomiting and stercoraceous vomiting is a kind of vomiting wherein the material vomited is of fecal origin it is a common symptom of gastrojejunocolic fistula and intestinal obstruction in the ileum fecal vomiting is often accompanied by an odor of feces on the breath and other gastrointestinal symptoms including abdominal pain abdominal distension dehydration and diarrhea in severe cases of bowel obstruction or constipation such as those related to clozapine treatment fecal vomiting has been identified as a cause of death
fecal vomiting also called feculent vomiting and stercoraceous vomiting is a kind of vomiting wherein the material vomited is of fecal origin it is a common symptom of gastrojejunocolic fistula and intestinal obstruction in the ileum fecal vomiting is often accompanied by an odor of feces on the breath and other gastrointestinal symptoms including abdominal pain abdominal distension dehydration and diarrhea in severe cases of bowel obstruction or constipation such as those related to clozapine treatment fecal vomiting has been identified as a cause of death fecal vomiting occurs when the bowel is obstructed for some reason and intestinal contents cannot move normally peristaltic waves occur in an attempt to decompress the intestine and the strong contractions of the intestinal muscles push the contents backwards through the pyloric sphincter into the stomach where they are then vomited fecal vomiting can also occur in cats
encopresis
encopresis from the ancient greek ἐγκόπρησις egkóprēsis also known as paradoxical diarrhea is voluntary or involuntary fecal soiling in children who have usually already been toilet trained persons with encopresis often leak stool into their undergarments this term is usually applied to children and where the symptom is present in adults it is more commonly known as fecal leakage fl fecal soiling or fecal seepage
hepatosplenomegaly
hepatosplenomegaly commonly abbreviated hsm is the simultaneous enlargement of both the liver hepatomegaly and the spleen splenomegaly hepatosplenomegaly can occur as the result of acute viral hepatitis infectious mononucleosis and histoplasmosis or it can be the sign of a serious and life threatening lysosomal storage disease systemic venous hypertension can also increase the risk for developing hepatosplenomegaly which may be seen in those patients with right sided heart failure
ascites
ascites is a gastroenterological term for an accumulation of fluid in the peritoneal cavity that exceeds 25 ml although most commonly due to cirrhosis severe liver disease or metastatic cancer its presence can be a sign of other significant medical problems such as budd – chiari syndrome diagnosis of the cause is usually with blood tests an ultrasound scan of the abdomen and direct removal of the fluid by needle or paracentesis which may also be therapeutic treatment may be with medication diuretics paracentesis or other treatments directed at the cause the term is from greek askítes meaning baglike
somatosensory disorder
a somatosensory disorder is an impairment of the somatosensory system an example is hypoesthesia
hyperesthesia
hyperesthesia or hyperaesthesia is a condition that involves an abnormal increase in sensitivity to stimuli of the sense when a non noxious stimulus causes the sensation of pain the area will be termed hyperaesthetic stimuli of the senses can include sound that one hears foods that one tastes textures that one feels and so forth increased touch sensitivity is referred to as tactile hyperesthesia and increased sound sensitivity is called auditory hyperesthesia tactile hyperesthesia may be a common symptom of many neurologic disorders such as herpes zoster peripheral neuropathy and radiculopathies in 1979 and then in 1994 merskey bogduk noordenbos devor and others a subcommittee of international association for the study of pain proposed instead of hyperaestheia th
spasticity
spasticity from greek spasmos meaning drawing pulling is a feature of altered skeletal muscle performance with a combination of paralysis increased tendon reflex activity and hypertonia it is also colloquially referred to as an unusual tightness stiffness or pull of muscles clinically spasticity results from the loss of inhibition of motor neurons causing excessive muscle contraction this ultimately leads to hyperreflexia an exaggerated deep tendon reflex spasticity is often treated with the drug baclofen which acts as an agonist at gaba receptors which are inhibitory
trismus
trismus or lockjaw refers to reduced opening of the jaws caused by spasm of the muscles of mastication or more generally to any instance limited mouth opening stemming from a variety of causes temporary trismus occurs much more frequently than permanent trismus it is known to interfere with eating speaking and maintaining proper oral hygiene this interference specifically with the patient s ability to swallow properly results in an increased risk of aspiration in some instances trismus presents with altered facial appearance the condition may be distressing and painful for the patient examination and treatments requiring access to the oral cavity can be limited or in some cases impossible due to the nature of the condition itself
athetosis
athetosis is a symptom characterized by slow involuntary convoluted writhing movements of the fingers hands toes and feet and in some cases arms legs neck and tongue movements typical of athetosis are sometimes called athetoid movements lesions to the brain are most often the direct cause of the symptoms particularly to the corpus striatum this symptom does not occur alone and is often accompanied by the symptoms of cerebral palsy as it is often a result of this disease treatments for athetosis are not very effective and in most cases are simply aimed at the uncontrollable movement rather than the cause itself
dysmetria
dysmetria english wrong length refers to a lack of coordination of movement typified by the undershoot or overshoot of intended position with the hand arm leg or eye it is a type of ataxia it is sometimes described as an inability to judge distance or scale hypermetria and hypometria refer respectively to overshooting and undershooting the intended position
asterixis
asterixis also called the flapping tremor or liver flap is a tremor of the hand when the wrist is extended sometimes said to resemble a bird flapping its wings this motor disorder is characterized by an inability to actively maintain a position which is demonstrated by jerking movements of the outstretched hands when bent upward at the wrist the tremor is caused by abnormal function of the diencephalic motor centers in the brain which regulate the muscles involved in maintaining position asterixis is associated with various encephalopathies due especially to faulty metabolism the term derives from the greek a not and stērixis fixed position
meningism
meningism is the triad of nuchal rigidity neck stiffness photophobia intolerance of bright light and headache it is a sign of irritation of the meninges such as seen in meningitis subarachnoid hemorrhages and various other diseases meningismus is the term used when the above listed symptoms are present without actual infection or inflammation usually it is seen in concordance with other acute illnesses in the pediatric population related clinical signs include kernig s sign and three signs all named brudzinski s sign
falls in older adults
falls in older adults are a significant cause of morbidity and mortality and are an important class of preventable injuries the cause of falling in old age is often multifactorial and may require a multidisciplinary approach both to treat any injuries sustained and to prevent future falls falls include dropping from a standing position or from exposed positions such as those on ladders or stepladders the severity of injury is generally related to the height of the fall the state of the ground surface onto which the victim falls is also important harder surfaces causing more severe injury falls can be prevented by ensuring that carpets are tacked down that objects like electric cords are not in one s path that hearing and vision are optimized dizziness is minimized alcohol intak
falls in older adults are a significant cause of morbidity and mortality and are an important class of preventable injuries the cause of falling in old age is often multifactorial and may require a multidisciplinary approach both to treat any injuries sustained and to prevent future falls falls include dropping from a standing position or from exposed positions such as those on ladders or stepladders the severity of injury is generally related to the height of the fall the state of the ground surface onto which the victim falls is also important harder surfaces causing more severe injury falls can be prevented by ensuring that carpets are tacked down that objects like electric cords are not in one s path that hearing and vision are optimized dizziness is minimized alcohol intake is moderated and that shoes have low heels or rubber soles
somnolence
somnolence alternatively sleepiness or drowsiness is a state of strong desire for sleep or sleeping for unusually long periods compare hypersomnia it has distinct meanings and causes it can refer to the usual state preceding falling asleep the condition of being in a drowsy state due to circadian rhythm disorders or a symptom of other health problems it can be accompanied by lethargy weakness and lack of mental agility the word somnolence is derived from the latin somnus meaning sleep
somnolence alternatively sleepiness or drowsiness is a state of strong desire for sleep or sleeping for unusually long periods compare hypersomnia it has distinct meanings and causes it can refer to the usual state preceding falling asleep the condition of being in a drowsy state due to circadian rhythm disorders or a symptom of other health problems it can be accompanied by lethargy weakness and lack of mental agility somnolence is often viewed as a symptom rather than a disorder by itself however the concept of somnolence recurring at certain times for certain reasons constitutes various disorders such as excessive daytime sleepiness shift work sleep disorder and others and there are medical codes for somnolence as viewed as a disorder sleepiness can be dangerous when performing tasks that require constant concentration such as driving a vehicle when a person is sufficiently fatigued microsleeps may be experienced the word somnolence is derived from the latin somnus meaning sleep
hallucination
a hallucination is a perception in the absence of external stimulus that has qualities of real perception hallucinations are vivid substantial and are perceived to be located in external objective space they are distinguishable from these related phenomena dreaming which does not involve wakefulness illusion which involves distorted or misinterpreted real perception imagery which does not mimic real perception and is under voluntary control and pseudohallucination which does not mimic real perception but is not under voluntary control hallucinations also differ from delusional perceptions in which a correctly sensed and interpreted stimulus i e a real perception is given some additional and typically absurd significance
synesthesia
synesthesia also spelled synæsthesia or synaesthesia from the ancient greek σύν syn together and αἴσθησις aisthēsis sensation is a neurological phenomenon in which stimulation of one sensory or cognitive pathway leads to automatic involuntary experiences in a second sensory or cognitive pathway people who report a lifelong history of such experiences are known as synesthetes only a fraction of types of synesthesia have been evaluated by scientific research awareness of synesthetic perceptions varies from person to person
synesthesia also spelled synæsthesia or synaesthesia from the ancient greek σύν syn together and αἴσθησις aisthēsis sensation is a neurological phenomenon in which stimulation of one sensory or cognitive pathway leads to automatic involuntary experiences in a second sensory or cognitive pathway people who report a lifelong history of such experiences are known as synesthetes in one common form of synesthesia known as grapheme color synesthesia or color graphemic synesthesia letters or numbers are perceived as inherently colored in spatial sequence or number form synesthesia numbers months of the year and or days of the week elicit precise locations in space for example 1980 may be farther away than 1990 or may appear as a three dimensional map clockwise or counterclockwise synesthetic associations can occur in any combination and any number of senses or cognitive pathways little is known about how synesthesia develops it has been suggested that synesthesia develops during childhood when children are intensively engaged with abstract concepts for the first time this hypothesis – referred to as semantic vacuum hypothesis – explains why the most common forms of synesthesia are grapheme color spatial sequence and number form these are usually the first abstract concepts that educational systems require children to learn only a fraction of types of synesthesia have been evaluated by scientific research awareness of synesthetic perceptions varies from person to person difficulties have been recognized in adequately defining synesthesia many different phenomena have been included in the term synesthesia union of the senses and in many cases the terminology seems to be inaccurate a more accurate term may be ideasthesia
suicidal ideation
suicidal ideation also known as suicidal thoughts concerns thoughts about or an unusual preoccupation with suicide the range of suicidal ideation varies greatly from fleeting thoughts to extensive thoughts to detailed planning role playing e g standing on a chair with a noose and incomplete attempts which may be deliberately constructed to not complete or to be discovered or may be fully intended to result in death but the individual survives e g in the case of a hanging in which the cord breaks
suicidal ideation also known as suicidal thoughts concerns thoughts about or an unusual preoccupation with suicide the range of suicidal ideation varies greatly from fleeting thoughts to extensive thoughts to detailed planning role playing e g standing on a chair with a noose and incomplete attempts which may be deliberately constructed to not complete or to be discovered or may be fully intended to result in death but the individual survives e g in the case of a hanging in which the cord breaks most people who have suicidal thoughts do not go on to make suicide attempts but it is considered a risk factor during 2008 09 an estimated 8 3 million adults aged 18 and over in the united states or 3 7 of the adult us population reported having suicidal thoughts in the previous year an estimated 2 2 million in the us reported having made suicide plans in the past year suicidal ideation is generally associated with depression and other mood disorders however it seems to have associations with many other mental disorders life events and family events all of which may increase the risk of suicidal ideation for example many individuals with borderline personality disorder exhibit recurrent suicidal behavior and suicidal thoughts one study found that 73 of patients with borderline personality disorder have attempted suicide with the average patient having 3 4 attempts currently there are a number of treatment options for those experiencing suicidal ideation
dysarthria
dysarthria is a motor speech disorder resulting from neurological injury of the motor component of the motor speech system and is characterized by poor articulation of phonemes cf aphasia a disorder of the content of language in other words it is a condition in which problems effectively occur with the muscles that help produce speech often making it very difficult to pronounce words it is unrelated to any problem with understanding cognitive language any of the speech subsystems respiration phonation resonance prosody and articulation can be affected leading to impairments in intelligibility audibility naturalness and efficiency of vocal communication dysarthria that has progressed to a total loss of speech is referred to as anarthria
dysarthria is a motor speech disorder resulting from neurological injury of the motor component of the motor speech system and is characterized by poor articulation of phonemes cf aphasia a disorder of the content of language in other words it is a condition in which problems effectively occur with the muscles that help produce speech often making it very difficult to pronounce words it is unrelated to any problem with understanding cognitive language any of the speech subsystems respiration phonation resonance prosody and articulation can be affected leading to impairments in intelligibility audibility naturalness and efficiency of vocal communication dysarthria that has progressed to a total loss of speech is referred to as anarthria neurological injury due to damage in the central or peripheral nervous system may result in weakness paralysis or a lack of coordination of the motor speech system producing dysarthria these effects in turn hinder control over the tongue throat lips or lungs for example swallowing problems dysphagia are also often present in those with dysarthria dysarthria does not include speech disorders from structural abnormalities such as cleft palate and must not be confused with apraxia of speech which refers to problems in the planning and programming aspect of the motor speech system just as the term articulation can mean either speech or joint movement so is the combining form of arthr the same in the terms dysarthria dysarthrosis and arthropathy the term dysarthria is conventionally reserved for the speech problem and is not used to refer to arthropathy whereas dysarthrosis has both senses but usually refers to arthropathy cranial nerves that control the muscles relevant to dysarthria include the trigeminal nerve s motor branch v the facial nerve vii the glossopharyngeal nerve ix the vagus nerve x and the hypoglossal nerve xii the term is from ancient greek δυσ dys hard difficult bad and ἄρθρωσις arthrosis articulation
apraxia
prosopagnosia
prosopagnosia ˌprɑːsəpæɡˈnoʊʒə greek prosopon face agnosia not knowing also called face blindness is a cognitive disorder of face perception where the ability to recognize familiar faces including one s own face self recognition is impaired while other aspects of visual processing e g object discrimination and intellectual functioning e g decision making remain intact the term originally referred to a condition following acute brain damage acquired prosopagnosia but a congenital or developmental form of the disorder also exists which may affect up to 2 5 of the population the specific brain area usually associated with prosopagnosia is the fusiform gyrus which activates specifically in response to faces the functionality of the fusiform gyrus allow
echolalia
echolalia also known as echologia or echophrasia is defined as the unsolicited repetition of vocalizations made by another person by the same person is called palilalia in its profound form it is automatic and effortless it is one of the echophenomena closely related to echopraxia the automatic repetition of movements made by another person both are subsets of imitative behavior whereby sounds or actions are imitated without explicit awareness echolalia may be an immediate reaction to a stimulus or may be delayed
fever of unknown origin
convulsion
a convulsion is a medical condition where body muscles contract and relax rapidly and repeatedly resulting in an uncontrolled shaking of the body because a convulsion is often a symptom of an epileptic seizure the term convulsion is sometimes used as a synonym for seizure however not all epileptic seizures lead to convulsions and not all convulsions are caused by epileptic seizures convulsions are also consistent with an electric shock and improper enriched air scuba diving for non epileptic convulsions see non epileptic seizures
febrile seizure
a febrile seizure also known as a fever fit or febrile convulsion is a seizure associated with a high body temperature but without any serious underlying health issue they most commonly occur in children between the ages of 6 months and 5 years most seizures are less than five minutes in duration and the child is completely back to normal within sixty minutes of the event
a febrile seizure also known as a fever fit or febrile convulsion is a seizure associated with a high body temperature but without any serious underlying health issue they most commonly occur in children between the ages of 6 months and 5 years most seizures are less than five minutes in duration and the child is completely back to normal within sixty minutes of the event febrile seizures may run in families the diagnosis involves verifying that there is not an infection of the brain there are no metabolic problems and there have not been prior seizures that have occurred without a fever there are two types of febrile seizures simple febrile seizures and complex febrile seizures simple febrile seizures involve an otherwise healthy child who has at most one tonic clonic seizure lasting less than 15 minutes in a 24 hour period blood testing imaging of the brain or an electroencephalogram eeg is typically not needed for the diagnosis examination to determine the source of the fever is recommended in otherwise healthy looking children a lumbar puncture is not necessarily required neither anti seizure medication nor anti fever medication are recommended in an effort to prevent further simple febrile seizures in the few cases that last greater than five minutes a benzodiazepine such as lorazepam or midazolam may be used outcomes are generally excellent with similar academic achievements to other children and no change in the risk of death for those with simple seizures there is tentative evidence that children have a slight increased risk of epilepsy at 2 febrile seizures affect two to ten percent of children before the age of five they are more common in boys than girls after a single febrile seizure there is a 15 to 70 chance of another one
bleeding
hyperhidrosis
hyperhidrosis is a condition characterized by abnormally increased sweating in excess of that required for regulation of body temperature hyperhidrosis can be associated with a quality of life burden from a psychological emotional and social perspective it has been called by some the silent handicap both the words diaphoresis and hidrosis can mean either perspiration in which sense they are synonymous with sweating or excessive perspiration in which case they refer to a specific narrowly defined clinical disorder
weight loss
weight loss in the context of medicine health or physical fitness refers to a reduction of the total body mass due to a mean loss of fluid body fat or adipose tissue and or lean mass namely bone mineral deposits muscle tendon and other connective tissue weight loss can either occur unintentionally due to malnourishment or an underlying disease or arise from a conscious effort to improve an actual or perceived overweight or obese state unexplained weight loss that is not caused by reduction in calorific intake or exercise is called cachexia and may be a symptom of a serious medical condition is commonly referred to as slimming
multiple organ dysfunction syndrome
multiple organ dysfunction syndrome mods also known as multiple organ failure mof total organ failure tof or multisystem organ failure msof is altered organ function in an acutely ill patient requiring medical intervention to achieve homeostasis although irwin rippe cautions in 2005 that the use of multiple organ failure or multisystem organ failure should be avoided both harrison s 2015 and cecil s 2012 medical textbooks still use the terms multi organ failure and multiple organ failure in several chapters and do not use multiple organ dysfunction syndrome at all
poikilocytosis
poikilocytosis refers to the presence of poikilocytes in the blood poikilocytes are abnormally shaped red blood cells as seen on a blood film in humans and many wild and domestic species of animals though they are common in some clinically normal small ruminants particularly goats normal red blood cells are round flattened disks that are thinner in the middle than at the edges a poikilocyte is an abnormally shaped cell generally poikilocytosis can refer to an increase in abnormal red blood cells of any shape where they make up 10 or more of the total population
hyperglycemia
elevated transaminases
in medicine the presence of elevated transaminases commonly the transaminases alanine transaminase alt and aspartate transaminase ast may be an indicator of liver damage other terms employed include transaminasemia and transaminitis although some sources consider the latter pathologically meaningless normal ranges for both alt and ast are 8 40 u l with mild transaminesemia noted to the upward numerical limit of 250 u l drug induced increases such as that found with the use of anti tuberculosis agents such as isoniazid are limited typically to below 100 u l for either alt or ast cirrhosis of the liver or fulminant liver failure secondary to hepatitis commonly reach values for both alt and ast in the 1000 u l range elevated transaminases that persist less than six months are t
azotemia
myoglobinuria
bilirubinuria
hemoglobinuria
short qt syndrome
short qt syndrome is a genetic disease of the electrical system of the heart it consists of a constellation of signs and symptoms consisting of a short qt interval on an ekg ≤ 300 ms that does not significantly change with heart rate tall and peaked t waves and a structurally normal heart short qt syndrome appears to be inherited in an autosomal dominant pattern and a few affected families have been identified
sudden infant death syndrome
sudden infant death syndrome sids also known as cot death or crib death is the sudden unexplained death of a child less than one year of age diagnosis requires that the death remains unexplained even after a thorough autopsy and detailed death scene investigation sids usually occurs during sleep typically death occurs between the hours of 00 00 and 09 00 there is usually no evidence of struggle and no noise produced
sudden infant death syndrome sids also known as cot death or crib death is the sudden unexplained death of a child less than one year of age diagnosis requires that the death remains unexplained even after a thorough autopsy and detailed death scene investigation sids usually occurs during sleep typically death occurs between the hours of 00 00 and 09 00 there is usually no evidence of struggle and no noise produced the exact cause of sids is unknown the requirement of a combination of factors including a specific underlying susceptibility a specific time in development and an environmental stressor has been proposed these environmental stressors may include sleeping on the stomach or side overheating and exposure to tobacco smoke accidental suffocation such as during bed sharing or from soft objects may also play a role another risk factor is being born before 39 weeks of gestation sids makes up about 80 of sudden and unexpected infant deaths suids with other causes including infections genetic disorders and heart problems while child abuse in the form of intentional suffocation may be misdiagnosed as sids this is believed to make up less than 5 of cases the most effective method of reducing the risk of sids is putting a child less than one year old on their back to sleep other measures include a firm mattress separate from but close to caregivers no loose bedding a relatively cool sleeping environment using a pacifier and avoiding exposure to tobacco smoke breastfeeding and immunization may also be preventive measures not shown to be useful include positioning devices and baby monitors evidence is not sufficient for the use of fans grief support for families impacted by sids is important as the death of the infant is sudden without witnesses and often associated with an investigation rates of sids vary nearly tenfold in developed countries from one in a thousand to one in ten thousand globally it resulted in about 15 000 deaths in 2013 down from 22 000 deaths in 1990 sids was the third leading cause of death in children less than one year old in the united states in 2011 it is the most common cause of death between one month and one year of age about 90 of cases happen before six months of age with it being most frequent between two months and four months of age it is more common in boys than girls
bruise
a bruise or contusion is a type of hematoma of tissue in which capillaries and sometimes venules are damaged by trauma allowing blood to seep hemorrhage or extravasate into the surrounding interstitial tissues bruises which do not blanch under pressure can involve capillaries at the level of skin subcutaneous tissue muscle or bone bruises are not to be confused with other similar looking lesions primarily distinguished by their diameter or causation these lesions include petechia 3 mm result from numerous and diverse etiologies such as adverse reactions from medications such as warfarin straining asphyxiation platelet disorders and diseases such as cytomegalovirus purpura 3 mm to 1 cm classified as palpable purpura or non palpable purpura and indicates various pathol
injury
black eye
a black eye periorbital hematoma or shiner is bruising around the eye commonly due to an injury to the face rather than to the eye the name is given due to the color of bruising the so called black eye is caused by bleeding beneath the skin and around the eye sometimes a black eye could get worse if not referring to a doctor after a few months indicating a more extensive injury even a skull fracture particularly if the area around both eyes is bruised raccoon eyes or if there has been a prior head injury
basilar skull fracture
a basilar skull fracture or basal skull fracture is a fracture of the base of the skull typically involving the temporal bone occipital bone sphenoid bone and or ethmoid bone this type of fracture is rare occurring as the only fracture in just 4 of severe head injury patients
a basilar skull fracture or basal skull fracture is a fracture of the base of the skull typically involving the temporal bone occipital bone sphenoid bone and or ethmoid bone this type of fracture is rare occurring as the only fracture in just 4 of severe head injury patients such fractures can cause tears in the membranes surrounding the brain or meninges with resultant leakage of the cerebrospinal fluid csf the leaking fluid may accumulate in the middle ear space and dribble out through a perforated eardrum csf otorrhea or into the nasopharynx via the eustachian tube causing a salty taste csf may also drip from the nose csf rhinorrhea in fractures of the anterior skull base yielding a halo sign these signs are characteristic for basilar skull fractures
nasal fracture
a nasal fracture commonly referred to as a broken nose is a fracture of one of the bones of the nose because of the protrusion of the nose from the face and the fragility of the bones of the nose a broken nose is one of the most common facial injuries comprising almost 40 of all facial injuries
orbital blowout fracture
an orbital blowout fracture is a traumatic deformity of the orbital floor or medial wall typically resulting from impact of a blunt object larger than the orbital aperture or eye socket there are two broad categories of blowout fractures open door which are large displaced and comminuted and trapdoor which are linear hinged and minimally displaced they are characterized by double vision sunken ocular globes and loss of sensation of the cheek and upper gums due to infraorbital nerve injury
an orbital blowout fracture is a traumatic deformity of the orbital floor or medial wall typically resulting from impact of a blunt object larger than the orbital aperture or eye socket there are two broad categories of blowout fractures open door which are large displaced and comminuted and trapdoor which are linear hinged and minimally displaced they are characterized by double vision sunken ocular globes and loss of sensation of the cheek and upper gums due to infraorbital nerve injury in pure orbital blowout fractures the orbital rim the most anterior bony margin of the orbit is preserved while with impure fractures the orbital rim is also injured with the trapdoor variant there is a high frequency of extra ocular muscle entrapment despite minimal signs of external trauma a phenomenon referred to as a white eyed orbital blowout fracture they can occur with other injuries such as transfacial le fort fractures or zygomaticomaxillary complex fractures the most common causes are assault and motor vehicle accidents in children the trapdoor subtype are more common reconstruction is usually performed with a titanium mesh or porous polyethylene through a transconjunctival or subciliary incision more recently there has been success with endoscopic or minimally invasive approaches
mandibular fracture
mandibular fracture also known as fracture of the jaw is a break through the mandibular bone in about 60 of cases the break occurs in two places it may result in a decreased ability to fully open the mouth often the teeth will not feel properly aligned or there may be bleeding of the gums mandibular fractures occur most commonly among males in their 30 s
traumatic brain injury
traumatic brain injury tbi also known as intracranial injury occurs when an external force traumatically injures the brain tbi can be classified based on severity mechanism closed or penetrating head injury or other features e g occurring in a specific location or over a widespread area head injury usually refers to tbi but is a broader category because it can involve damage to structures other than the brain such as the scalp and skull
jefferson fracture
whiplash medicine
whiplash is a non medical term describing a range of injuries to the neck caused by or related to a sudden distortion of the neck associated with extension although the exact injury mechanisms remain unknown the term whiplash is a colloquialism cervical acceleration – deceleration cad describes the mechanism of the injury while the term whiplash associated disorders wad describes the injury sequelae and symptoms
whiplash is a non medical term describing a range of injuries to the neck caused by or related to a sudden distortion of the neck associated with extension although the exact injury mechanisms remain unknown the term whiplash is a colloquialism cervical acceleration – deceleration cad describes the mechanism of the injury while the term whiplash associated disorders wad describes the injury sequelae and symptoms whiplash is commonly associated with motor vehicle accidents usually when the vehicle has been hit in the rear however the injury can be sustained in many other ways including headbanging bungee jumping and falls it is one of the main injuries covered by insurance in the united kingdom 430 000 people made an insurance claim for whiplash in 2007 accounting for 14 of every driver s premium before the invention of the car whiplash injuries were called railway spine as they were noted mostly in connection with train collisions the first case of severe neck pain arising from a train collision was documented around 1919 the number of whiplash injuries has since risen sharply due to rear end motor vehicle collisions given the wide variety of symptoms associated with whiplash injuries the quebec task force on whiplash associated disorders coined the phrase whiplash associated disorders
decapitation
decapitation from latin caput capitis meaning head is the complete separation of the head from the body in humans and most other animals death will always result from such an injury since severing the head deprives all other organs of the involuntary functions that are essential for the body to function while the brain itself is deprived of oxygenated blood
chest injury
rib fracture
a rib fracture is a break or fracture in one or more of the bones making up the rib cage fractures of the first and second ribs may be more likely to be associated with head and facial injuries than other rib fractures the middle ribs are the ones most commonly fractured fractures usually occur from direct blows or from indirect crushing injuries a rib fracture has the complication of potentially causing a pulmonary contusion rib fractures are usually quite painful because the ribs have to move to allow for breathing when several ribs are broken in several places a flail chest results and the detached bone sections will move separately from the rest of the chest
flail chest
flail chest is a life threatening medical condition that occurs when a segment of the rib cage breaks due to trauma and becomes detached from the rest of the chest wall two of the symptoms of flail chest are chest pain and shortness of breath flail chest is usually accompanied by a pulmonary contusion a bruise of the lung tissue that can interfere with blood oxygenation often it is the contusion not the flail segment that is the main cause of respiratory problems in people with both injuries surgery to fix the fractures appears to result in better outcomes
commotio cordis
commotio cordis latin agitation of the heart is an often lethal disruption of heart rhythm that occurs as a result of a blow to the area directly over the heart the precordial region at a critical time during the cycle of a heart beat causing cardiac arrest it is a form of ventricular fibrillation v fib not mechanical damage to the heart muscle or surrounding organs and not the result of heart disease the fatality rate is about 65 it can sometimes but not always be reversed by defibrillation
commotio cordis latin agitation of the heart is an often lethal disruption of heart rhythm that occurs as a result of a blow to the area directly over the heart the precordial region at a critical time during the cycle of a heart beat causing cardiac arrest it is a form of ventricular fibrillation v fib not mechanical damage to the heart muscle or surrounding organs and not the result of heart disease the fatality rate is about 65 it can sometimes but not always be reversed by defibrillation commotio cordis occurs mostly in boys and young men average age 15 usually during sports most often baseball often despite a chest protector it is most often caused by a projectile but can also be caused by the blow of an elbow or other body part being less developed the thorax of an adolescent is likely more prone to this injury given the circumstances the phenomenon was confirmed experimentally in the 1930 s with research in anaesthetized rabbits cats and dogs
pulmonary contusion
a pulmonary contusion or lung contusion is a contusion bruise of the lung caused by chest trauma as a result of damage to capillaries blood and other fluids accumulate in the lung tissue the excess fluid interferes with gas exchange potentially leading to inadequate oxygen levels hypoxia unlike pulmonary laceration another type of lung injury pulmonary contusion does not involve a cut or tear of the lung tissue
diaphragmatic rupture
diaphragmatic rupture also called diaphragmatic injury or tear is a tear of the diaphragm the muscle across the bottom of the ribcage that plays a crucial role in respiration most commonly acquired diaphragmatic tears result from physical trauma diaphragmatic rupture can result from blunt or penetrating trauma and occurs in about 5 of cases of severe blunt trauma to the trunk
abdominal trauma
abdominal trauma is an injury to the abdomen it may be blunt or penetrating and may involve damage to the abdominal organs signs and symptoms include abdominal pain tenderness rigidity and bruising of the external abdomen abdominal trauma presents a risk of severe blood loss and infection diagnosis may involve ultrasonography computed tomography and peritoneal lavage and treatment may involve surgery injury to the lower chest may cause splenic or liver injuries
acetabular fracture
fractures of the acetabulum occur when the head of the femur is driven into the pelvis this is caused either by a blow on the side or by a blow in the front of the knee usually in a dashboard injury when the femur also may be fractured acetabulum in latin means a cup that holds vinegar collins english dictionary it is a cavity situated on the outer surface of innominate bone innominate bone is confluence of 3 bones the ilium ischium and pubis acetabulum and ball of femur form the hip joint
splenic injury
a splenic injury which includes a ruptured spleen is any injury to the spleen the rupture of a normal spleen can be caused by trauma such as a traffic collision
clavicle fracture
a clavicle fracture is a bone fracture in the clavicle or collarbone it is often caused by a fall onto an outstretched upper extremity a fall onto a shoulder or a direct blow to the clavicle many research projects are underway regarding the medical healing process of clavicle fractures
dislocated shoulder
a dislocated shoulder occurs when the humerus separates from the scapula at the shoulder joint glenohumeral joint the shoulder joint has the greatest range of motion of any joint at the cost of low joint stability and it is therefore particularly susceptible to subluxation partial dislocation and dislocation approximately half of major joint dislocations seen in emergency departments involve the shoulder
separated shoulder
a separated shoulder also known as acromioclavicular separation ac separation is a common injury to the acromioclavicular joint it is a joint dislocation but it is not called a dislocated shoulder as that term refers to a glenohumeral joint shoulder joint dislocation the ac joint is located at the distal end of the clavicle known as the acromial end and attaches to the acromion of the scapula although this is part of the shoulder a dislocated shoulder and a separated shoulder are completely different acromioclavicular separation occurs as a result of a downward force being applied to the superior part of the acromion either by something striking the top of the acromion or by falling directly on it the injury is more likely to occur if the shoulder is struck with the hand o
nursemaid s elbow
scaphoid fracture
a scaphoid fracture a fracture of the scaphoid bone also known as the carpal navicular is the most common type of carpal bone fracture scaphoid fractures usually cause pain at the base of the thumb accompanied by swelling in the same area scaphoid fractures usually cause pain and sensitivity to palpation in the anatomic snuffbox at the base of the thumb accompanied by swelling in the same area these are also called navicular fractures the scaphoid also being called the carpal navicular as navicular is the traditional name for the scaphoid bone although this can be confused with the navicular bone in the foot treatment depends on the location of the fracture
bennett s fracture
bennett fracture is a fracture of the base of the first metacarpal bone which extends into the carpometacarpal cmc joint this intra articular fracture is the most common type of fracture of the thumb and is nearly always accompanied by some degree of subluxation or frank dislocation of the carpometacarpal joint
patellar tendon rupture
patellar tendon rupture is a rupture of the tendon that connects the patella to the tibia the superior portion of the patellar tendon attaches on the posterior portion of the patella and the posterior portion of the patella tendon attaches to the tibial tubercle on the front of the tibia above the patella are the quadriceps muscle large muscles on the front of the thigh the quadriceps tendon attaches to the top of the patella this structure allows the knee to flex and extend allowing use of basic functions such as walking and running
unhappy triad
an unhappy triad or terrible triad horrible triangle o donoghue s triad or a blown knee is an injury to the anterior cruciate ligament medial collateral ligament and the medial meniscus the triad refers to a complete or partial tear of the anterior cruciate ligament medial collateral ligament and the medial meniscus originally the unhappy triad included the medial meniscus and not the lateral meniscus however during the 1990 s analysis indicated that the classic o donoghue triad is actually an unusual clinical entity among athletes with knee injuries some authors mistakenly believe that in this type of injury acute tears of the medial meniscus always present with a concomitant lateral meniscus injury however the lateral meniscus tears are more common than medial men
an unhappy triad or terrible triad horrible triangle o donoghue s triad or a blown knee is an injury to the anterior cruciate ligament medial collateral ligament and the medial meniscus the triad refers to a complete or partial tear of the anterior cruciate ligament medial collateral ligament and the medial meniscus originally the unhappy triad included the medial meniscus and not the lateral meniscus however during the 1990 s analysis indicated that the classic o donoghue triad is actually an unusual clinical entity among athletes with knee injuries some authors mistakenly believe that in this type of injury acute tears of the medial meniscus always present with a concomitant lateral meniscus injury however the lateral meniscus tears are more common than medial meniscus tears in conjunction with sprains of the acl according to the 1990 s study
achilles tendon rupture
achilles tendon rupture is when the achilles tendon breaks the achilles is the most commonly injured tendon rupture can occur while performing actions requiring explosive acceleration such as pushing off or jumping the male to female ratio for achilles tendon rupture varies between 7 1 and 4 1 across various studies
jones fracture
sprained ankle
a sprained ankle also known as an ankle sprain twisted ankle rolled ankle floppy ankle or just ankle injury is a common injury where sprain occur on one or more ligaments of the ankle
bone fracture
a bone fracture sometimes abbreviated frx or fx fx or is a medical condition in which there is a damage in the continuity of the bone a bone fracture can be the result of high force impact or stress or a minimal trauma injury as a result of certain medical conditions that weaken the bones such as osteoporosis bone cancer or osteogenesis imperfecta where the fracture is then properly termed a pathologic fracture although broken bone and bone break are common colloquialisms for a bone fracture break is not a formal orthopedic term
blister
a blister is a small pocket of lymph within the upper layers of the skin typically caused by forceful rubbing friction burning freezing chemical exposure or infection most blisters are filled with a clear fluid either serum or plasma however blisters can be filled with blood known as blood blisters or with pus if they become infected
wound
a wound is a type of injury which happens relatively quickly in which skin is torn cut or punctured an open wound or where blunt force trauma causes a contusion a closed wound in pathology it specifically refers to a sharp injury which damages the dermis of the skin
animal bite
an animal bite is a wound usually lacerations caused by the teeth an animal bite usually results in a break in the skin but also includes contusions from the excessive pressure on body tissue from the bite the contusions can occur without a break in the skin bites can be provoked or unprovoked other bite attacks may be apparently unprovoked biting is a physical action not only describing an attack but it is a normal response in an animal as it eats carries objects softens and prepares food for its young removes ectoparasites from its body surface removes plant seeds attached to its fur or hair scratching itself and grooming other animals animal bites often result in serious infections and mortality animal bites not only include injuries from the teeth of reptiles mammals b
an animal bite is a wound usually lacerations caused by the teeth an animal bite usually results in a break in the skin but also includes contusions from the excessive pressure on body tissue from the bite the contusions can occur without a break in the skin bites can be provoked or unprovoked other bite attacks may be apparently unprovoked biting is a physical action not only describing an attack but it is a normal response in an animal as it eats carries objects softens and prepares food for its young removes ectoparasites from its body surface removes plant seeds attached to its fur or hair scratching itself and grooming other animals animal bites often result in serious infections and mortality animal bites not only include injuries from the teeth of reptiles mammals but fish and amphibians arthropods can also bite and leave injuries
insect bites and stings
insect bites and stings occur when an insect is agitated and seeks to defend itself through its natural defense mechanisms or when an insect seeks to feed off the bitten person some insects inject formic acid which can cause an immediate skin reaction often resulting in redness and swelling in the injured area stings from fire ants bees wasps and hornets are usually painful and may stimulate a dangerous allergic reaction called anaphylaxis for at risk patients and some wasps can also have a powerful bite along with a sting bites from mosquitoes and fleas are more likely to cause itching than pain
insect bites and stings occur when an insect is agitated and seeks to defend itself through its natural defense mechanisms or when an insect seeks to feed off the bitten person some insects inject formic acid which can cause an immediate skin reaction often resulting in redness and swelling in the injured area stings from fire ants bees wasps and hornets are usually painful and may stimulate a dangerous allergic reaction called anaphylaxis for at risk patients and some wasps can also have a powerful bite along with a sting bites from mosquitoes and fleas are more likely to cause itching than pain the skin reaction to insect bites and stings usually lasts for up to a few days however in some cases the local reaction can last for up to two years these bites are sometimes misdiagnosed as other types of benign or cancerous lesions
sprain
joint dislocation
a joint dislocation also called luxation occurs when there is an abnormal separation in the joint where two or more bones meet a partial dislocation is referred to as a subluxation dislocations are often caused by sudden trauma on the joint like an impact or fall a joint dislocation can cause damage to the surrounding ligaments tendons muscles and nerves dislocations can occur in any joint major shoulder knees etc or minor toes fingers etc the most common joint dislocation is a shoulder dislocation
a joint dislocation also called luxation occurs when there is an abnormal separation in the joint where two or more bones meet a partial dislocation is referred to as a subluxation dislocations are often caused by sudden trauma on the joint like an impact or fall a joint dislocation can cause damage to the surrounding ligaments tendons muscles and nerves dislocations can occur in any joint major shoulder knees etc or minor toes fingers etc the most common joint dislocation is a shoulder dislocation treatment for joint dislocation is usually by closed reduction that is skilled manipulation to return the bones to their normal position reduction should be done only by trained people because it can cause injury
amputation
amputation is the removal of a limb by trauma medical illness or surgery as a surgical measure it is used to control pain or a disease process in the affected limb such as malignancy or gangrene in some cases it is carried out on individuals as a preventative surgery for such problems a special case is that of congenital amputation a congenital disorder where fetal limbs have been cut off by constrictive bands in some countries amputation of the hands feet or other body parts is or was used as a form of punishment for people who committed crimes amputation has also been used as a tactic in war and acts of terrorism it may also occur as a war injury in some cultures and religions minor amputations or mutilations are considered a ritual accomplishment unlike some non mammal
foreign body
a foreign body or sometimes known as fb latin corpus alienum is any object originating outside the body in machinery it can mean any unwanted intruding object most references to foreign bodies involve propulsion through natural orifices into hollow organs foreign bodies can be inert or irritating if they irritate they will cause inflammation and scarring they can bring infection into the body or acquire infectious agents and protect them from the body s immune defenses they can obstruct passageways either by their size or by the scarring they cause some can be toxic
bezoar
foreign body in alimentary tract
one of the most common locations for a foreign body is the alimentary tract it is possible for foreign bodies to enter the tract from the mouth or from the rectum the objects most commonly swallowed by children are coins meat impaction is more common in adults swallowed objects are more likely to lodge in the esophagus or stomach than in the pharynx or duodenum
rectal foreign body
burn
a burn is a type of injury to skin or other tissues caused by heat cold electricity chemicals friction or radiation most burns are due to heat from hot liquids solids or fire females in many areas of the world have a higher risk related to the more frequent use of open cooking fires or unsafe cook stoves alcoholism and smoking are other risk factors burns can also occur as a result of self harm or violence between people
a burn is a type of injury to skin or other tissues caused by heat cold electricity chemicals friction or radiation most burns are due to heat from hot liquids solids or fire females in many areas of the world have a higher risk related to the more frequent use of open cooking fires or unsafe cook stoves alcoholism and smoking are other risk factors burns can also occur as a result of self harm or violence between people burns that affect only the superficial skin layers are known as superficial or first degree burns they appear red without blisters and pain typically lasts around three days when the injury extends into some of the underlying skin layer it is a partial thickness or second degree burn blisters are frequently present and they are often very painful healing can require up to eight weeks and scarring may occur in a full thickness or third degree burn the injury extends to all layers of the skin often there is no pain and the burn area is stiff healing typically does not occur on its own a fourth degree burn additionally involves injury to deeper tissues such as muscle tendons or bone the burn is often black and frequently leads to loss of the burned part burns are generally preventable treatment depends on the severity of the burn superficial burns may be managed with little more than simple pain medication while major burns may require prolonged treatment in specialized burn centers cooling with tap water may help pain and decrease damage however prolonged cooling may result in low body temperature partial thickness burns may require cleaning with soap and water followed by dressings it is not clear how to manage blisters but it is probably reasonable to leave them intact if small and drain them if large full thickness burns usually require surgical treatments such as skin grafting extensive burns often require large amounts of intravenous fluid due to capillary fluid leakage and tissue swelling the most common complications of burns involve infection tetanus toxoid should be given if not up to date in 2013 fire and heat resulted in 35 million injuries this resulted in about 2 9 million hospitalizations and 238 000 dying most deaths due to burns occur in the developing world particularly in southeast asia while large burns can be fatal treatments developed since 1960 have improved outcomes especially in children and young adults in the united states approximately 96 of those admitted to a burn center survive their injuries burns occur at similar frequencies in men and women the long term outcome is related to the size of burn and the age of the person affected
chemical burn
a chemical burn occurs when living tissue is exposed to a corrosive substance such as a strong acid or base chemical burns follow standard burn classification and may cause extensive tissue damage the main types of irritant and or corrosive products are acids bases oxidizers reducing agents solvents and alkylants additionally chemical burns can be caused by some types of chemical weapons e g vesicants such as mustard gas and lewisite or urticants such as phosgene oxime chemical burns may
frostbite
frostbite or cold burn is the medical condition in which localized damage is caused to skin and other tissues due to freezing frostbite is most likely to happen in body parts farthest from the heart and those with large exposed areas the initial stages of frostbite are sometimes called frostnip
lead poisoning
lead poisoning is a type of metal poisoning caused by lead in the body the brain is the most sensitive symptoms may include abdominal pain constipation headaches irritability memory problems inability to have children and tingling in the hands and feet it causes almost 10 of intellectual disability of otherwise unknown cause and can result in behavioral problems some of the effects are permanent in severe cases anemia seizures coma or death may occur
lead poisoning is a type of metal poisoning caused by lead in the body the brain is the most sensitive symptoms may include abdominal pain constipation headaches irritability memory problems inability to have children and tingling in the hands and feet it causes almost 10 of intellectual disability of otherwise unknown cause and can result in behavioral problems some of the effects are permanent in severe cases anemia seizures coma or death may occur exposure to lead can occur by contaminated air water dust food or consumer products children are at greater risk as they are more likely to put objects in their mouth such as those that contain lead paint and absorb a greater proportion of the lead that they do eat exposure at work is a common cause of lead poisoning in adults with certain occupations at particular risk diagnosis is typically by measurement of the blood lead level the centers for disease control us has set the upper limit for blood lead for adults at 10 µg dl 10 µg 100 g and for children at 5 µg dl elevated lead may also be detected by changes in red blood cells or dense lines in the bones of children as seen on x ray lead poisoning is preventable this includes by individual efforts such as removing lead containing items from the home workplace efforts such as improved ventilation and monitoring and nationwide policies such as laws that ban lead in products such as paint and gasoline reduce allowable levels in water or soil and provide for cleanup of contaminated soil the major treatments are removal of the source of lead and the use of medications that bind lead so it can be eliminated from the body known as chelation therapy chelation therapy in children is recommended when blood levels are greater than 40 45 ug dl medications used include dimercaprol edetate calcium disodium and succimer in 2013 lead is believed to have resulted in 853 000 deaths it occurs most commonly in the developing world those who are poor are at greater risk lead is believed to result in 0 6 of the world s disease burden people have been mining and using lead for thousands of years descriptions of lead poisoning date to at least 2000 bc while efforts to limit leads use date back to at least the 1500 s concerns for low levels of exposure begin in the 1970 s with there being no safe threshold for lead exposure
mercury poisoning
mercury poisoning also known as hydrargyria or mercurialism is a type of metal poisoning a medical condition caused by exposure to mercury or its compounds mercury chemical symbol hg is a heavy metal occurring in several forms all of these except elemental liquid mercury for which intravenous injection of a certain volume is required produce toxicity or death with less than a gram the damage done by elemental mercury is caused by blocking blood vessels mercury s zero oxidation state hg 0 exists as vapor or as liquid metal its mercurous state hg exists as inorganic salts and its mercuric state hg 2 may form either inorganic salts or organomercury compounds the three groups vary in effects toxic effects include damage to the brain kidneys and lungs mercury poisoning c
mercury poisoning also known as hydrargyria or mercurialism is a type of metal poisoning a medical condition caused by exposure to mercury or its compounds mercury chemical symbol hg is a heavy metal occurring in several forms all of these except elemental liquid mercury for which intravenous injection of a certain volume is required produce toxicity or death with less than a gram the damage done by elemental mercury is caused by blocking blood vessels mercury s zero oxidation state hg 0 exists as vapor or as liquid metal its mercurous state hg exists as inorganic salts and its mercuric state hg 2 may form either inorganic salts or organomercury compounds the three groups vary in effects toxic effects include damage to the brain kidneys and lungs mercury poisoning can result in several diseases including acrodynia pink disease hunter russell syndrome and minamata disease symptoms typically include sensory impairment vision hearing speech disturbed sensation and a lack of coordination the type and degree of symptoms exhibited depend upon the individual toxin the dose and the method and duration of exposure
minamata disease
minamata disease japanese 水俣病 hepburn minamata byō sometimes referred to as chisso minamata disease チッソ水俣病 chisso minamata byō is a neurological syndrome caused by severe mercury poisoning symptoms include ataxia numbness in the hands and feet general muscle weakness loss of peripheral vision and damage to hearing and speech in extreme cases insanity paralysis coma and death follow within weeks of the onset of symptoms a congenital form of the disease can also affect fetuses in the womb
mad hatter disease
mad hatter disease or mad hatter syndrome was an occupational disease among hatmakers caused by chronic mercury poisoning it affected those whose felting work involved prolonged exposure to mercury vapors the neurotoxic effects included tremor and the pathological shyness and irritability characteristic of erethism although lewis carroll s iconic mad hatter character in alice s adventures in wonderland has often been linked to the occupational hazards of hatmaking it is thought that the character was directly inspired by the eccentric furniture dealer theophilus carter
erethism
erethism or erethism mercurialis is a neurological disorder which affects the whole central nervous system as well as a symptom complex derived from mercury poisoning this is also sometimes known as the mad hatter disease historically this was common among old england felt hatmakers who used mercury to stabilize the wool in a process called felting where hair was cut from a pelt of an animal such as a rabbit the industrial workers were exposed to the mercury vapors giving rise to the expression “ mad as a hatter ” some believe that the character the mad hatter in lewis carroll s alice in wonderland is an example of someone suffering from erethism but the origin of this account is unclear the character was almost certainly based on theophilus carter an eccentric furniture dealer wh
erethism or erethism mercurialis is a neurological disorder which affects the whole central nervous system as well as a symptom complex derived from mercury poisoning this is also sometimes known as the mad hatter disease historically this was common among old england felt hatmakers who used mercury to stabilize the wool in a process called felting where hair was cut from a pelt of an animal such as a rabbit the industrial workers were exposed to the mercury vapors giving rise to the expression “ mad as a hatter ” some believe that the character the mad hatter in lewis carroll s alice in wonderland is an example of someone suffering from erethism but the origin of this account is unclear the character was almost certainly based on theophilus carter an eccentric furniture dealer who was well known to carroll it is commonly characterized through behavioral changes such as irritability low self confidence depression apathy shyness and timidity and in some extreme cases with prolonged exposure to mercury vapors delirium personality changes and memory loss occur as a result people with erethism find it difficult to interact socially with others with behaviors similar to that of a social phobia although most of the effects of erethism are neurological some physical problems arise as well including a decrease in physical strength “ headaches general pain and tremors after exposure to metallic mercury ” as well as irregular heartbeat it has been documented that “ the tremor in the hands can be so severe that the victim is unable to hold a glass of water without spilling its contents ” the primary risk factor for erethism is long term exposure to mercury vapors and gasses at high levels one group at risk for mercury poisoning is industrial workers and those exposed to high levels of mercury residing naturally in the environment erethism is not as serious an issue as it was back before acceptable working condition regulations were enforced preventing mercury levels from getting too high limits the amount available for inhalation there is a risk of mercury poisoning in the home in some cases exposure to mercury vapor may stem from cultural and religious reasons where mercury is sprinkled on the floor of a home or car burned in a candle or mixed with perfume due to widespread use and popular concern the risk of toxicity from dental amalgam has been exhaustively investigated to date no convincing evidence of toxicity has been found one treatment of mercury poisoning was to admit fresh air to the patient by having him go outside daily as much as possible stimulants such as ammonia have also been documented to help restore pulse to a normal rhythm for a more comprehensive reading of treatment see mercury poisoning treatment section
argyria
argyria or argyrosis from ancient greek ἄργυρος argyros silver is a condition caused by inappropriate exposure to chemical compounds of the element silver or to silver dust the most dramatic symptom of argyria is that the skin turns blue or bluish grey it may take the form of generalized argyria or local argyria generalized argyria affects large areas over much of the visible surface of the body local argyria shows in limited regions of the body such as patches of skin parts of the mucous membrane or the conjunctiva
argyria or argyrosis from ancient greek ἄργυρος argyros silver is a condition caused by inappropriate exposure to chemical compounds of the element silver or to silver dust the most dramatic symptom of argyria is that the skin turns blue or bluish grey it may take the form of generalized argyria or local argyria generalized argyria affects large areas over much of the visible surface of the body local argyria shows in limited regions of the body such as patches of skin parts of the mucous membrane or the conjunctiva the terms argyria and argyrosis have long been used interchangeably with argyria being used more frequently argyrosis has been used particularly in referring to argyria of the conjunctiva but the usage has never been consistent and cannot be relied on except where it has been explicitly specified
carbon monoxide poisoning
carbon monoxide poisoning occurs after too much inhalation of carbon monoxide co carbon monoxide is a toxic gas but being colorless odorless tasteless and initially non irritating it is very difficult for people to detect carbon monoxide is a product of incomplete combustion of organic matter due to insufficient oxygen supply to enable complete oxidation to carbon dioxide co 2 it is often produced in domestic or industrial settings by motor vehicles that run on gasoline diesel methane or other carbon based fuels and from tools gas heaters and cooking equipment that are powered by carbon based fuels such as propane butane and charcoal exposure at 100 ppm or greater can be dangerous to human health
oxygen toxicity
oxygen toxicity is a condition resulting from the harmful effects of breathing molecular oxygen o 2 at increased partial pressures it is also known as oxygen toxicity syndrome oxygen intoxication and oxygen poisoning historically the central nervous system condition was called the paul bert effect and the pulmonary condition the lorrain smith effect after the researchers who pioneered its discovery and description in the late 19 th century severe cases can result in cell damage and death with effects most often seen in the central nervous system lungs and eyes oxygen toxicity is a concern for underwater divers those on high concentrations of supplemental oxygen particularly premature babies and those undergoing hyperbaric oxygen therapy
polymer fume fever
polymer fume fever or fluoropolymer fever also informally called teflon flu is an inhalation fever caused by the fumes released when polytetrafluoroethylene ptfe known under the trade name teflon reaches temperatures of 300 ° f 149 ° c to 450 ° f 232 ° c when ptfe is heated above 450 ° f 232 ° c the pyrolysis products are different and inhalation may cause acute lung injury symptoms are flu like chills headaches and fevers with chest tightness and mild cough onset occurs about 4 to 8 hours after exposure to the pyrolysis products of ptfe a high white blood cell count may be seen and chest x ray findings are usually minimal
polymer fume fever or fluoropolymer fever also informally called teflon flu is an inhalation fever caused by the fumes released when polytetrafluoroethylene ptfe known under the trade name teflon reaches temperatures of 300 ° f 149 ° c to 450 ° f 232 ° c when ptfe is heated above 450 ° f 232 ° c the pyrolysis products are different and inhalation may cause acute lung injury symptoms are flu like chills headaches and fevers with chest tightness and mild cough onset occurs about 4 to 8 hours after exposure to the pyrolysis products of ptfe a high white blood cell count may be seen and chest x ray findings are usually minimal the polymer fumes are especially harmful to certain birds whose breathing optimized for rapidity allows toxins which are excluded by human lungs fumes from teflon in very high heat are fatal to parrots as well as some other birds ptfe toxicosis
metal fume fever
metal fume fever also known as brass founders ague brass shakes zinc shakes galvie flu metal dust fever or monday morning fever is an illness primarily caused by exposure to certain fumes workers breathe in fumes from chemicals such as zinc oxide zno or magnesium oxide mgo which are themselves created by heating or welding certain metals particularly galvanized steel other common sources are fuming silver gold platinum chromium from stainless steel nickel arsenic manganese beryllium cadmium cobalt copper lead selenium and zinc
metal fume fever also known as brass founders ague brass shakes zinc shakes galvie flu metal dust fever or monday morning fever is an illness primarily caused by exposure to certain fumes workers breathe in fumes from chemicals such as zinc oxide zno or magnesium oxide mgo which are themselves created by heating or welding certain metals particularly galvanized steel other common sources are fuming silver gold platinum chromium from stainless steel nickel arsenic manganese beryllium cadmium cobalt copper lead selenium and zinc welders are commonly exposed to the substances that cause metal fume fever from the base metal plating or filler brazing and soldering a type of metal work in which only the filler is melted can also cause metal poisoning from lead zinc copper or cadmium in the filler metal in extreme cases cadmium present in some older silver solder alloys can cause loss of consciousness within a matter of minutes
shellfish poisoning
mushroom poisoning
mushroom poisoning also known as mycetism or mycetismus refers to harmful effects from ingestion of toxic substances present in a mushroom these symptoms can vary from slight gastrointestinal discomfort to death the toxins present are secondary metabolites produced in specific biochemical pathways in the fungal cells mushroom poisoning is usually the result of ingestion of wild mushrooms after misidentification of a toxic mushroom as an edible species the most common reason for this misidentification is close resemblance in terms of colour and general morphology of the toxic mushrooms species with edible species
mushroom poisoning also known as mycetism or mycetismus refers to harmful effects from ingestion of toxic substances present in a mushroom these symptoms can vary from slight gastrointestinal discomfort to death the toxins present are secondary metabolites produced in specific biochemical pathways in the fungal cells mushroom poisoning is usually the result of ingestion of wild mushrooms after misidentification of a toxic mushroom as an edible species the most common reason for this misidentification is close resemblance in terms of colour and general morphology of the toxic mushrooms species with edible species to prevent mushroom poisoning mushroom gatherers need to be very familiar with the mushrooms they intend to collect as well as with any similar looking toxic species in addition edibility of mushrooms may depend on methods of preparation for cooking collectors also need to be well aware that edibility or toxicity of some species varies with geographic location
lathyrism
lathyrism or neurolathyrism is a neurological disease of humans and domestic animals caused by eating certain legumes of the genus lathyrus this problem is mainly associated with lathyrus sativus also known as grass pea kesari dal khesari dal or almorta and to a lesser degree with lathyrus cicera lathyrus ochrus and lathyrus clymenum containing the toxin odap
ergotism
ergotism pron ˈɜːrɡətˌɪzəm ur gət iz əm is the effect of long term ergot poisoning traditionally due to the ingestion of the alkaloids produced by the claviceps purpurea fungus that infects rye and other cereals and more recently by the action of a number of ergoline based drugs it is also known as ergotoxicosis ergot poisoning and saint anthony s fire ergot poisoning is a proposed explanation of bewitchment
snakebite
a snakebite is an injury caused by the bite of a snake it often results in two puncture wounds from the animal s fangs sometimes poisoning from the bite may occur this may result in redness swelling and severe pain at the area which may take up to an hour to appear vomiting trouble seeing tingling of the limbs and sweating may result most bites are on the hands or arms fear following a bite is common with symptoms of a racing heart and feeling faint the venom may cause bleeding kidney failure a severe allergic reaction tissue death around the bite or breathing problems bites may result in the loss of a limb or other chronic problems the outcome depends on the type of snake the area of the body bitten the amount of venom injected and the health conditions of the person
a snakebite is an injury caused by the bite of a snake it often results in two puncture wounds from the animal s fangs sometimes poisoning from the bite may occur this may result in redness swelling and severe pain at the area which may take up to an hour to appear vomiting trouble seeing tingling of the limbs and sweating may result most bites are on the hands or arms fear following a bite is common with symptoms of a racing heart and feeling faint the venom may cause bleeding kidney failure a severe allergic reaction tissue death around the bite or breathing problems bites may result in the loss of a limb or other chronic problems the outcome depends on the type of snake the area of the body bitten the amount of venom injected and the health conditions of the person problems are often worse in children than adults snakes bite both as a method of hunting and as a means of protection risk factors for bites include working outside with one s hand such as in farming forestry and construction snakes commonly involved in poisonings include the elapids vipers and sea snakes the majority of snake species do not have venom and kill their prey by squeezing them venomous snakes can be found on every continent except antarctica determining the type of snake that caused a bite is often not possible the world health organization lists snakebite as a neglected disease prevention of snake bites can involve wearing protective footwear avoiding areas where snakes live and not handling snakes treatment partly depends on the type of snake washing the wound with soap and water and holding the limb still is recommended trying to suck out the venom cutting the wound with a knife or using a tourniquet is not recommended antivenom is effective at preventing death from bites however antivenoms frequently have side effects the type of antivenom needed depends on the type of snake involved when the type of snake is unknown antivenom is often given based on the types known to be in the area in some areas of the world getting the right type of antivenom is difficult and this partly contributes to why they sometimes do not work an additional issue is the cost of these medications antivenom has little effect on the area around the bite itself supporting the person s breathing is sometimes also required the number of snakebites that occur each year may be as high as five million they result in about 2 5 million poisonings and 20 000 to 125 000 deaths the frequency of bites varies greatly among different parts of the world they occur most commonly in africa asia and latin america with rural areas more greatly affected deaths are relatively rare in australia europe and north america for example about seven to eight thousand people per year in the united states are bitten by venomous snakes
tick paralysis
tick paralysis is the only tick borne disease that is not caused by an infectious organism the illness is caused by a neurotoxin produced in the tick s salivary gland after prolonged attachment the engorged tick transmits the toxin to its host the incidence of tick paralysis is unknown patients can experience severe respiratory distress similar to anaphylaxis
cyanide poisoning
toxicity
toxicity is the degree to which a substance can damage an organism toxicity can refer to the effect on a whole organism such as an animal bacterium or plant as well as the effect on a substructure of the organism such as a cell cytotoxicity or an organ such as the liver hepatotoxicity by extension the word may be metaphorically used to describe toxic effects on larger and more complex groups such as the family unit or society at large sometimes the word is more or less synonymous with poisoning in everyday usage
toxicity is the degree to which a substance can damage an organism toxicity can refer to the effect on a whole organism such as an animal bacterium or plant as well as the effect on a substructure of the organism such as a cell cytotoxicity or an organ such as the liver hepatotoxicity by extension the word may be metaphorically used to describe toxic effects on larger and more complex groups such as the family unit or society at large sometimes the word is more or less synonymous with poisoning in everyday usage a central concept of toxicology is that the effects of a toxin are dose dependent even water can lead to water intoxication when taken in too high a dose whereas for even a very toxic substance such as snake venom there is a dose below which there is no detectable toxic effect toxicity is species specific making cross species analysis problematic newer paradigms and metrics are evolving to bypass animal testing while maintaining the concept of toxicity endpoints
acute radiation syndrome
acute radiation syndrome ars also known as radiation poisoning radiation sickness or radiation toxicity is a collection of health effects that are present within 24 hours of exposure to high amounts of ionizing radiation the radiation causes cellular degradation due to damage to dna and other key molecular structures within the cells in various tissues this destruction particularly because it affects the ability of cells to divide normally in turn causes the symptoms the symptoms can begin within one or two hours and may last for several months the terms refer to acute medical problems rather than ones that develop after a prolonged period
heat stroke
heatstroke and heatstrokes redirect here for other uses see heatstroke disambiguation heat stroke also known as sun stroke is a severe heat illness defined as hyperthermia with a body temperature greater than 40 6 ° c 105 1 ° f because of environmental heat exposure with lack of thermoregulation this is distinct from a fever where there is a physiological increase in the temperature set point of the body the term stroke in heat stroke is a misnomer in that it does not involve a blockage or hemorrhage of blood flow to the brain preventive measures include drinking plenty of cool liquids and avoiding excessive heat and humidity especially in unventilated spaces such as parked cars that can overheat quickly treatment requires rapid physical cooling of the body
hypothermia
hypothermia is defined as a body core temperature below 35 0 ° c 95 0 ° f symptoms depend on the temperature in mild hypothermia there is shivering and mental confusion in moderate hypothermia shivering stops and confusion increases in severe hypothermia there may be in which a person removes his or her clothing as well as an increased risk of the heart stopping
hypothermia is defined as a body core temperature below 35 0 ° c 95 0 ° f symptoms depend on the temperature in mild hypothermia there is shivering and mental confusion in moderate hypothermia shivering stops and confusion increases in severe hypothermia there may be in which a person removes his or her clothing as well as an increased risk of the heart stopping hypothermia has two main types of causes it classically occurs from exposure to extreme cold it may also occur from any condition that decreases heat production or increases heat loss commonly this includes alcohol intoxication but may also include low blood sugar anorexia and advanced age among others body temperature is usually maintained near a constant level of 36 5 – 37 5 ° c 97 7 – 99 5 ° f through thermoregulation efforts to increase body temperature involve shivering increased voluntary activity and putting on warmer clothing hypothermia may be diagnosed based on either a person s symptoms in the presence of risk factors or by measuring a person s core temperature the treatment of mild hypothermia involves warm drinks warm clothing and physical activity in those with moderate hypothermia heating blankets and warmed intravenous fluids are recommended people with moderate or severe hypothermia should be moved gently in severe hypothermia extracorporeal membrane oxygenation ecmo or cardiopulmonary bypass may be useful in those without a pulse cardiopulmonary resuscitation cpr is indicated along with the above measures rewarming is typically continued until a person s temperature is greater than 32 ° c 90 ° f if there is no improvement at this point or the blood potassium level is greater than 12 mmol liter at any time resuscitation may be discontinued hypothermia is the cause of at least 1500 deaths a year in the united states it is more common in older people and males one of the lowest documented body temperatures from which someone with accidental hypothermia has survived is 13 0 ° c 55 4 ° f in a near drowning of a 7 year old girl in sweden survival after more than six hours of cpr has been described in those in whom ecmo or bypass is used survival is around 50 deaths due to hypothermia have played an important role in many wars hyperthermia is the opposite of hypothermia being an increased body temperature due to failed thermoregulation the term is from greek ὑπο meaning under and θερμία meaning heat
trench foot
trench foot is a medical condition caused by prolonged exposure of the feet to damp unsanitary and cold conditions it is one of many immersion foot syndromes the use of the word trench in the name of this condition is a reference to trench warfare mainly associated with world war i which started in 1914
chilblains
chilblains ˈtʃɪlbleɪnz — also known as pernio and perniosis — is a medical condition that occurs when a predisposed individual is exposed to cold and humidity causing tissue damage it is often confused with frostbite and trench foot damage to capillary beds in the skin causes redness itching inflammation and sometimes blisters chilblains can be reduced by keeping the feet and hands warm in cold weather and avoiding extreme temperature changes chilblains can be idiopathic spontaneous and unrelated to another disease but may also be a manifestation of another serious medical condition that needs to be investigated a history of chilblains is suggestive of a connective tissue disease such as lupus chilblains in infants together with severe neurologic disease and unexplaine
barotrauma
high altitude pulmonary edema
high altitude pulmonary edema hape hapo spelled oedema in british english is a life threatening form of non cardiogenic pulmonary edema fluid accumulation in the lungs that occurs in otherwise healthy mountaineers at altitudes typically above 2 500 meters 8 200 ft however cases have also been reported at lower altitudes between 1 500 – 2 500 metres or 4 900 – 8 200 feet in highly vulnerable subjects though what makes some people susceptible to hape is currently unknown hape remains the major cause of death related to high altitude exposure with a high mortality rate in the absence of adequate emergency treatment
altitude sickness
altitude sickness — also known as acute mountain sickness ams is a pathological effect of high altitude on humans caused by acute exposure to low partial pressure of oxygen at high altitude although minor symptoms such as breathlessness may occur at altitudes of 1 500 metres 5 000 ft ams commonly occurs above 2 400 metres 8 000 ft it presents as a collection of nonspecific symptoms acquired at high altitude or in low air pressure resembling a case of flu carbon monoxide poisoning or a hangover it is hard to determine who will be affected by altitude sickness as there are no specific factors that correlate with a susceptibility to altitude sickness however most people can ascend to 2 400 metres 8 000 ft without difficulty
altitude sickness — also known as acute mountain sickness ams is a pathological effect of high altitude on humans caused by acute exposure to low partial pressure of oxygen at high altitude although minor symptoms such as breathlessness may occur at altitudes of 1 500 metres 5 000 ft ams commonly occurs above 2 400 metres 8 000 ft it presents as a collection of nonspecific symptoms acquired at high altitude or in low air pressure resembling a case of flu carbon monoxide poisoning or a hangover it is hard to determine who will be affected by altitude sickness as there are no specific factors that correlate with a susceptibility to altitude sickness however most people can ascend to 2 400 metres 8 000 ft without difficulty acute mountain sickness can progress to high altitude pulmonary edema hape or high altitude cerebral edema hace which are potentially fatal chronic mountain sickness also known as monge s disease is a different condition that only occurs after very prolonged exposure to high altitude
decompression sickness
decompression sickness dcs also known as divers disease the bends or caisson disease describes a condition arising from dissolved gases coming out of solution into bubbles inside the body on depressurisation dcs most commonly refers to problems arising from underwater diving decompression i e during ascent but may be experienced in other depressurisation events such as working in a caisson flying in an unpressurised aircraft and extravehicular activity from spacecraft dcs is a subset of decompression illness dci which includes both dcs and arterial gas embolism age
starvation
starvation is a severe deficiency in caloric energy intake needed to maintain human life it is the most extreme form of malnutrition in humans prolonged starvation can cause permanent organ damage and eventually death the term inanition refers to the symptoms and effects of starvation starvation may also be used as a means of torture or execution
starvation is a severe deficiency in caloric energy intake needed to maintain human life it is the most extreme form of malnutrition in humans prolonged starvation can cause permanent organ damage and eventually death the term inanition refers to the symptoms and effects of starvation starvation may also be used as a means of torture or execution according to the world health organization hunger is the single gravest threat to the world s public health the who also states that malnutrition is by far the biggest contributor to child mortality present in half of all cases undernutrition is a contributory factor in the death of 3 1 million children under five every year figures on actual starvation are difficult to come by but according to the food and agriculture organization the less severe condition of undernourishment currently affects about 842 million people or about one in eight 12 5 people in the world population the bloated stomach as seen in the picture to the right represents a form of malnutrition called kwashiorkor which is caused by insufficient protein despite a sufficient caloric intake children are more vulnerable to kwashiorkor advanced symptoms of which include weight loss and muscle wasting
neglect
neglect is a form of abuse where the perpetrator is responsible for caring for someone who is unable to care for himself or herself but fails to do so neglect may include the failure to provide sufficient supervision nourishment or medical care or the failure to fulfill other needs for which the victim cannot provide themselves the term is also applied when necessary care is withheld by those responsible for providing it from animals plants and even inanimate objects neglect can carry on in a child s life falling into many long term side effects such as physical injuries low self esteem attention disorders violent behavior and can even cause death
sexual assault
sexual assault is a sexual act in which a person is coerced or physically forced to engage against their will or a non consensual sexual touching of a person sexual assault is a form of sexual violence and it includes rape such as forced vaginal anal or oral penetration or drug facilitated sexual assault groping child sexual abuse or the torture of the person in a sexual manner
rape
rape is a type of sexual assault usually involving sexual intercourse or other forms of sexual penetration perpetrated against a person without that person s consent the act may be carried out by physical force coercion abuse of authority or against a person who is incapable of giving valid consent such as one who is unconscious incapacitated has an intellectual disability or is below the legal age of consent the term rape is sometimes used interchangeably with the term sexual assault
drowning
drowning is defined as respiratory impairment from being in or under a liquid it is further classified by outcome into death ongoing health problems and no ongoing health problems using the term near drowning to refer to those who survive is no longer recommended drowning itself is quick and silent although it may be preceded by distress which is more visible
drowning is defined as respiratory impairment from being in or under a liquid it is further classified by outcome into death ongoing health problems and no ongoing health problems using the term near drowning to refer to those who survive is no longer recommended drowning itself is quick and silent although it may be preceded by distress which is more visible generally in the early stages of drowning very little water enters the lungs a small amount of water entering the trachea causes a muscular spasm that seals the airway and prevents the passage of both air and water until unconsciousness occurs this means a person drowning is unable to shout or call for help or seek attention as they cannot obtain enough air the instinctive drowning response is the final set of autonomic reactions in the 20 – 60 seconds before sinking underwater and to the untrained eye can look similar to calm safe behavior lifeguards and other persons trained in rescue learn to recognize drowning people by watching for these movements in 2013 there were about 1 7 million cases of drowning unintentional drowning is the third leading cause of unintentional injury resulting in death worldwide in 2013 it was estimated to have resulted in 368 000 deaths down from 545 000 deaths in 1990 of these deaths 82 000 occurred in children less than five years old it accounts for 7 of all injury related deaths excluding those due to natural disasters with 91 of these deaths occurring in low income and middle income countries drowning occurs more frequently in males and the young the rate of drowning in populations around the world varies widely according to their access to water the climate and the national swimming culture
motion sickness
motion sickness also known as kinetosis and travel sickness is a condition in which a disagreement exists between visually perceived movement and the vestibular system s sense of movement depending on the cause it can also be referred to as seasickness car sickness simulation sickness or airsickness
motion sickness also known as kinetosis and travel sickness is a condition in which a disagreement exists between visually perceived movement and the vestibular system s sense of movement depending on the cause it can also be referred to as seasickness car sickness simulation sickness or airsickness dizziness fatigue and nausea are the most common symptoms of motion sickness sopite syndrome in which a person feels fatigue or tiredness is also associated with motion sickness nausea in greek means seasickness naus means ship if the motion causing nausea is not resolved the sufferer will usually vomit vomiting often will not relieve the feeling of weakness and nausea which means the person might continue to vomit until the cause of the nausea is treated
food allergy
a food allergy is an abnormal immune response to food the signs and symptoms may range from mild to severe they may include itchiness swelling of the tongue vomiting diarrhea hives trouble breathing or low blood pressure this typically occurs within minutes to several hours of exposure when the symptoms are severe it is known as anaphylaxis food intolerance and food poisoning are separate conditions
anaphylaxis
anaphylaxis is a serious allergic reaction that is rapid in onset and may cause death it typically causes more than one of the following an itchy rash throat or tongue swelling shortness of breath vomiting lightheadedness and low blood pressure these symptoms typically come on over minutes to hours
jarisch – herxheimer reaction
the jarisch – herxheimer reaction is a reaction to endotoxin like products released by the death of harmful microorganisms within the body during antibiotic treatment
allergy
allergies also known as allergic diseases are a number of conditions caused by hypersensitivity of the immune system to something in the environment that usually causes little or no problem in most people these diseases include hay fever food allergies atopic dermatitis allergic asthma and anaphylaxis symptoms may include red eyes an itchy rash runny nose shortness of breath or swelling food intolerances and food poisoning are separate conditions
allergies also known as allergic diseases are a number of conditions caused by hypersensitivity of the immune system to something in the environment that usually causes little or no problem in most people these diseases include hay fever food allergies atopic dermatitis allergic asthma and anaphylaxis symptoms may include red eyes an itchy rash runny nose shortness of breath or swelling food intolerances and food poisoning are separate conditions common allergens include pollen and certain food metals and other substances may also cause problems food insect stings and medications are common causes of severe reactions their development is due to both genetic and environmental factors the underlying mechanism involves immunoglobulin e antibodies ige part of the body s immune system binding to an allergen and then to a receptor on mast cells or basophils where it triggers the release of inflammatory chemicals such as histamine diagnosis is typically based on a person s medical history further testing of the skin or blood may be useful in certain cases positive tests however may not mean there is a significant allergy to the substance in question early exposure to potential allergens may be protective treatments for allergies include avoiding known allergens and the use of medications such as steroids and antihistamines in severe reactions injectable adrenaline epinephrine is recommended allergen immunotherapy which gradually exposes people to larger and larger amounts of allergen is useful for some types of allergies such as hay fever and reactions to insect bites its use in food allergies is unclear allergies are common in the developed world about 20 of people are affected by allergic rhinitis about 6 of people have at least one food allergy and about 20 have atopic dermatitis at some point in time depending on the country about 1 – 18 of people have asthma anaphylaxis occurs in between 0 05 – 2 of people rates of many allergic diseases appear to be increasing the word allergy was first used by clemens von pirquet in 1906
peanut allergy
peanut allergy is a type of food allergy to peanuts it is different from nut allergies physical symptoms of allergic reaction can include itchiness urticaria swelling eczema sneezing asthma abdominal pain drop in blood pressure diarrhea and cardiac arrest anaphylaxis may occur it is due to a type i hypersensitivity reaction of the immune system in susceptible individuals the allergy is recognized as one of the most severe food allergies due to its prevalence persistency and potential severity of allergic reaction
peanut allergy is a type of food allergy to peanuts it is different from nut allergies physical symptoms of allergic reaction can include itchiness urticaria swelling eczema sneezing asthma abdominal pain drop in blood pressure diarrhea and cardiac arrest anaphylaxis may occur it is due to a type i hypersensitivity reaction of the immune system in susceptible individuals the allergy is recognized as one of the most severe food allergies due to its prevalence persistency and potential severity of allergic reaction in the united states peanut allergies are present in 0 6 of the population in western cultures peanut allergy is the most common cause of food related anaphylaxis death
arthus reaction
crush syndrome
crush syndrome also traumatic rhabdomyolysis or bywaters syndrome or ground beef blood gbb is a medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle crush injury is compression of extremities or other parts of the body that causes muscle swelling and or neurological disturbances in the affected areas of the body while crush syndrome is localized crush injury with systemic manifestations cases occur commonly in catastrophes such as earthquakes to victims that have been trapped under fallen or moving masonry
crush syndrome also traumatic rhabdomyolysis or bywaters syndrome or ground beef blood gbb is a medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle crush injury is compression of extremities or other parts of the body that causes muscle swelling and or neurological disturbances in the affected areas of the body while crush syndrome is localized crush injury with systemic manifestations cases occur commonly in catastrophes such as earthquakes to victims that have been trapped under fallen or moving masonry victims of crushing damage present some of the greatest challenges in field medicine and may be among the few situations where a physician is needed in the field the most drastic response to crushing under massive objects may be field amputation even if it is possible to extricate the patient without amputation appropriate physiological preparation is mandatory where permissive hypotension is the standard for prehospital care fluid loading is the requirement in crush syndrome
subcutaneous emphysema
subcutaneous emphysema is when gas or air is in the layer under the skin subcutaneous refers to the tissue beneath the skin and emphysema refers to trapped air it is sometimes abbreviated sce or se and also called tissue emphysema or sub q air since the air generally comes from the chest cavity subcutaneous emphysema usually occurs on the chest neck and face where it is able to travel from the chest cavity along the fascia subcutaneous emphysema has a characteristic crackling feel to the touch a sensation that has been described as similar to touching rice krispies this sensation of air under the skin is known as subcutaneous crepitation
serum sickness
graft versus host disease
vaccine injury
a vaccine injury is an injury caused by vaccination allegations and confirmed instances of vaccine injuries in recent decades have appeared in litigation in the united states some families have won substantial awards from sympathetic juries even though many public health officials have said that the claims of injuries are unfounded in response several vaccine makers stopped production threatening public health and laws were passed to shield makers from liabilities stemming from vaccine injury claims
malignant hyperthermia
malignant hyperthermia mh or malignant hyperpyrexia is a rare life threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia — specifically the volatile anesthetic agents and succinylcholine a neuromuscular blocking agent in susceptible individuals these drugs can induce a drastic and uncontrolled increase in oxidative metabolism in skeletal muscle which overwhelms the body s capacity to supply oxygen remove carbon dioxide and regulate body temperature eventually leading to circulatory collapse and death if not immediately treated
malignant hyperthermia mh or malignant hyperpyrexia is a rare life threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia — specifically the volatile anesthetic agents and succinylcholine a neuromuscular blocking agent in susceptible individuals these drugs can induce a drastic and uncontrolled increase in oxidative metabolism in skeletal muscle which overwhelms the body s capacity to supply oxygen remove carbon dioxide and regulate body temperature eventually leading to circulatory collapse and death if not immediately treated susceptibility to mh is often inherited as an autosomal dominant disorder for which there are at least 6 genetic loci of interest most prominently the ryanodine receptor gene ryr 1 mh susceptibility is phenotypically and genetically related to central core disease ccd an autosomal dominant disorder characterized both by mh signs and myopathy mh is usually revealed upon or shortly after exposure to certain general anesthetic agents there is no simple straightforward test to diagnose the condition treatment with dantrolene and other drugs is usually initiated when mh is strongly suspected dantrolene and the avoidance of triggering agents in susceptible people have markedly reduced the mortality from this condition
adverse drug reaction
severe acute respiratory syndrome
severe acute respiratory syndrome sars is a viral respiratory disease of zoonotic origin caused by the sars coronavirus sars cov between november 2002 and july 2003 an outbreak of sars in southern china caused an eventual 8 096 cases resulting in 774 deaths reported in 37 countries with the majority of cases in hong kong 9 6 fatality rate according to the world health organization who no cases of sars have been reported worldwide since 2004
traffic collision
a traffic collision also known as a motor vehicle collision mvc among others occurs when a vehicle collides with another vehicle pedestrian animal road debris or other stationary obstruction such as a tree or pole traffic collisions may result in injury death and property damage
paper cut
a paper cut occurs when a piece of paper or other thin sharp material slices a person s skin paper cuts though named from paper can also be caused by other thin stiff materials although a loose paper sheet is usually too soft to cut it can be very thin sometimes as thin as a razor edge being then able to exert high levels of pressure enough to cut the skin paper cuts are most often caused by paper sheets that are strongly fastened together such as brand new paper out of a ream because one single paper sheet might be dislocated from the rest thus all the other sheets are holding this dislocated sheet in position and the very small part held away from the rest can be stiff enough to act as a razor
a paper cut occurs when a piece of paper or other thin sharp material slices a person s skin paper cuts though named from paper can also be caused by other thin stiff materials although a loose paper sheet is usually too soft to cut it can be very thin sometimes as thin as a razor edge being then able to exert high levels of pressure enough to cut the skin paper cuts are most often caused by paper sheets that are strongly fastened together such as brand new paper out of a ream because one single paper sheet might be dislocated from the rest thus all the other sheets are holding this dislocated sheet in position and the very small part held away from the rest can be stiff enough to act as a razor paper cuts can be surprisingly painful as they can stimulate a large number of skin surface nociceptors pain receptors in a very small area of the skin because the shallow cut does not bleed very much the pain receptors are left open to the air ensuring continued pain however the cut can also be very deep in which case a puddle of blood pools around a longer gash this is exacerbated by irritation caused by the fibers in the paper itself which may be coated in chemicals such as bleach additionally most paper cuts occur in the fingers which have a greater concentration of sensory receptors than the rest of the body the random orientation of collagen fibers in skin provides the ability to withstand pinpoint forces however the skin does not have the same strength against shearing forces and is easily cut
needlestick injury
a needlestick injury percutaneous injury or percutaneous exposure incident is the penetration of skin by a needle or other sharp object which was in contact with blood tissue or other body fluid before the exposure occupational needlestick injuries primarily affect healthcare workers who make up 80 of needlestick injuries in the united states various other occupations are also at increased risk of needlestick injury including law enforcement laborers tattoo artists food preparers and agricultural workers though the acute physiological effects of a needlestick injury are generally negligible these devices can transmit blood borne diseases placing those exposed at increased risk of contracting infectious diseases such as hepatitis b hbv hepatitis c hcv and the human i
dog bite
dog bites or dog attacks are attacks on humans by feral or domestic dogs with the close association of dogs and humans in daily life largely as pets dog bites – with injuries from very minor to significant – are extremely common dogs also pose danger from their claws and can be powerful enough to knock people down attacks on the serious end of the spectrum have become the focus of increasing media and public attention in the late 20 th and early 21 st centuries
suicide
suicide is the act of intentionally causing one s own death risk factors include mental disorders such as depression bipolar disorder schizophrenia personality disorders alcoholism or substance misuse others are impulsive acts due to stress such as from financial difficulties troubles with relationships or from bullying those who have previously attempted suicide are at higher risk for future attempts suicide prevention efforts include limiting access to method of suicide such as firearms and poisons treating mental disorders and substance misuse proper media reporting of suicide and improving economic conditions although crisis hotlines are common there is little evidence for their effectiveness
suicide is the act of intentionally causing one s own death risk factors include mental disorders such as depression bipolar disorder schizophrenia personality disorders alcoholism or substance misuse others are impulsive acts due to stress such as from financial difficulties troubles with relationships or from bullying those who have previously attempted suicide are at higher risk for future attempts suicide prevention efforts include limiting access to method of suicide such as firearms and poisons treating mental disorders and substance misuse proper media reporting of suicide and improving economic conditions although crisis hotlines are common there is little evidence for their effectiveness the most commonly used method of suicide varies between countries and is partly related to the availability of effective means common methods include hanging pesticide poisoning and firearms suicide resulted in 842 000 deaths globally in 2013 up from 712 000 deaths in 1990 this makes it the 10 th leading cause of death worldwide three quarters of suicides globally occur in the developing world rates of completed suicides are generally higher in men than in women ranging from 1 5 times as much in the developing world to 3 5 times in the developed world suicide is generally most common among those over the age of 70 however in certain countries those aged between 15 and 30 are at highest risk there are an estimated 10 to 20 million non fatal attempted suicides every year non fatal suicide attempts may lead to injury and long term disabilities in the western world attempts are more common in young people and females views on suicide have been influenced by broad existential themes such as religion honor and the meaning of life the abrahamic religions traditionally consider suicide an offense towards god due to the belief in the sanctity of life during the samurai era in japan a form of suicide known as seppuku was respected as a means of making up for failure or as a form of protest sati a practice outlawed by the british raj expected the indian widow to kill herself on her husband s funeral fire either willingly or under pressure from the family and society suicide and attempted suicide while previously illegal are no longer in most western countries it in the 20 th and 21 st centuries suicide has been used on rare occasions as a form of protest and kamikaze and suicide bombings have been used as a military or terrorist tactic the word is from the latin suicidium which means the killing of oneself
self harm
self harm sh also known as self injury is defined as the intentional direct injuring of body tissue done without suicidal intentions these terms are used in the more recent literature in an attempt to reach a more neutral terminology the older literature especially that which predates the diagnostic and statistical manual of mental disorders dsm 5 almost exclusively refers to self mutilation
self harm sh also known as self injury is defined as the intentional direct injuring of body tissue done without suicidal intentions these terms are used in the more recent literature in an attempt to reach a more neutral terminology the older literature especially that which predates the diagnostic and statistical manual of mental disorders dsm 5 almost exclusively refers to self mutilation the most common form of self harm is using a sharp object to cut one s skin but self harm also covers a wide range of behaviors including burning scratching banging or hitting body parts interfering with wound healing dermatillomania hair pulling trichotillomania and the ingestion of toxic substances or objects behaviours associated with substance abuse and eating disorders are usually not considered self harm because the resulting tissue damage is ordinarily an unintentional side effect however the boundaries are not always clearly defined and in some cases behaviours that usually fall outside the boundaries of self harm may indeed represent self harm if performed with explicit intent to cause tissue damage although suicide is not the intention of self harm the relationship between self harm and suicide is complex as self harming behaviour may be potentially life threatening there is also an increased risk of suicide in individuals who self harm to the extent that self harm is found in 40 – 60 of suicides however generalising self harmers to be suicidal is in the majority of cases inaccurate the desire to self harm is listed in the dsm 5 as a symptom of borderline personality disorder however patients with other mental disorders may also self harm including those with depression anxiety disorders substance abuse eating disorders post traumatic stress disorder schizophrenia and several personality disorders self harm is also apparent in high functioning individuals who have no underlying clinical diagnosis the motivations for self harm vary and it may be used to fulfill a number of different functions these functions include self harm being used as a coping mechanism which provides temporary relief of intense feelings such as anxiety depression stress emotional numbness or a sense of failure or self loathing and other mental traits including low self esteem or perfectionism self harm is often associated with a history of trauma and abuse including emotional and sexual abuse there are a number of different methods that can be used to treat self harm and which concentrate on either treating the underlying causes or on treating the behaviour itself when self harm is associated with depression antidepressant drugs and therapy may be effective other approaches involve avoidance techniques which focus on keeping the individual occupied with other activities or replacing the act of self harm with safer methods that do not lead to permanent damage in 2013 about 3 3 million cases of self harm occurred self harm is most common in adolescence and young adulthood usually first appearing between the ages of 12 and 24 self harm in childhood is relatively rare but the rate has been increasing since the 1980 s however self harm behaviour can occur at any age including in the elderly population the risk of serious injury and suicide is higher in older people who self harm self harm is not limited to humans captive animals such as birds and monkeys are also known to participate in self harming behaviour
feline acne
feline acne is a problem seen in cats primarily involving the formation of blackheads accompanied by inflammation on the cat s chin and surrounding areas in many cases symptoms are mild and the disease does not require treatment more severe cases however may respond slowly to treatment and seriously detract from the health and appearance of the cat feline acne can affect cats of any age sex or breed other conditions that can cause similar appearing conditions include skin mites ringworm yeast infection or auto immune diseases such as eosinophilic granuloma complex rodent ulcers
feline acne is a problem seen in cats primarily involving the formation of blackheads accompanied by inflammation on the cat s chin and surrounding areas in many cases symptoms are mild and the disease does not require treatment more severe cases however may respond slowly to treatment and seriously detract from the health and appearance of the cat feline acne can affect cats of any age sex or breed sebaceous glands are mostly found in the skin of the chin base of the tail eyelids lips prepuce and scrotum they are connected to the hair follicles in acne the follicles become clogged with black sebaceous material forming comedones also known as blackheads these comedones can become irritated swollen and infected leading to pustules the cats may experience itching and discomfort due to swelling and bacterial growth inside infected glands secondary fungal infections species malassezia may also occur other conditions that can cause similar appearing conditions include skin mites ringworm yeast infection or auto immune diseases such as eosinophilic granuloma complex rodent ulcers
thrombus
a thrombus colloquially called a blood clot is the final product of the blood coagulation step in hemostasis there are two components to a thrombus aggregated platelets that form a platelet plug and a mesh of cross linked fibrin protein the substance making up a thrombus is sometimes called cruor a thrombus is a healthy response to injury intended to prevent bleeding but can be harmful in thrombosis when clots obstruct blood flow through healthy blood vessels
a thrombus colloquially called a blood clot is the final product of the blood coagulation step in hemostasis there are two components to a thrombus aggregated platelets that form a platelet plug and a mesh of cross linked fibrin protein the substance making up a thrombus is sometimes called cruor a thrombus is a healthy response to injury intended to prevent bleeding but can be harmful in thrombosis when clots obstruct blood flow through healthy blood vessels mural thrombi are thrombi that adhere to the wall of a blood vessel they occur in large vessels such as the heart and aorta and can restrict blood flow but usually do not block it entirely they appear grey red with alternating light and dark lines known as lines of zahn which represent bands of fibrin lighter with entrapped white blood cells and red blood cells darker
cutaneous condition
a cutaneous condition is any medical condition that affects the integumentary system — the organ system that encloses the body and includes skin hair nails and related muscle and glands the major function of this system is as a barrier against the external environment
a cutaneous condition is any medical condition that affects the integumentary system — the organ system that encloses the body and includes skin hair nails and related muscle and glands the major function of this system is as a barrier against the external environment conditions of the human integumentary system constitute a broad spectrum of diseases also known as dermatoses as well as many nonpathologic states like in certain circumstances melanonychia and racquet nails while only a small number of skin diseases account for most visits to the physician thousands of skin conditions have been described classification of these conditions often presents many nosological challenges since underlying etiologies and pathogenetics are often not known therefore most current textbooks present a classification based on location for example conditions of the mucous membrane morphology chronic blistering conditions etiology skin conditions resulting from physical factors and so on clinically the diagnosis of any particular skin condition is made by gathering pertinent information regarding the presenting skin lesion s including the location such as arms head legs symptoms pruritus pain duration acute or chronic arrangement solitary generalized annular linear morphology macules papules and color red blue brown black white yellow the diagnosis of many conditions often also requires a skin biopsy which yields histologic information that can be correlated with the clinical presentation and any laboratory data
diabetic foot
a diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long term or chronic complication of diabetes mellitus presence of several characteristic diabetic foot pathologies such as infection diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome in diabetes peripheral nerve dysfunction can be combined with peripheral artery disease pad causing poor blood circulation to the extremities diabetic angiopathy around half of patients with a diabetic foot ulcer have co existing pad
hickey
a hickey is a bruise or bruise like mark caused by the kissing or sucking of the skin usually on the neck or arm while biting might be part of giving a hickey sucking is sufficient to burst small superficial blood vessels under the skin
a hickey is a bruise or bruise like mark caused by the kissing or sucking of the skin usually on the neck or arm while biting might be part of giving a hickey sucking is sufficient to burst small superficial blood vessels under the skin hickeys typically last from 5 to 12 days and may be treated in the same way as other bruises ways to reduce the appearance of hickeys include icing recent hickeys to reduce swelling rubbing them with a chilled spoon to remove the bruise and applying a warm compress to older hickeys to dilate vessels and promote blood flow they can be covered with a concealer or powder corresponding to the sufferer s skin tone or a fake tan alternatively articles of clothing such as scarves snoods turtle necks or sleeves may be used to conceal hickeys
mosaic genetics
in genetics a mosaic or mosaicism describes the presence of two or more populations of cells with different genotypes in one individual who has developed from a single fertilized egg 1 mosaicism has been reported to be present in as high as 70 of cleavage stage embryos and 90 of blastocyst stage embryos derived from in vitro fertilization 2
in genetics a mosaic or mosaicism describes the presence of two or more populations of cells with different genotypes in one individual who has developed from a single fertilized egg 1 mosaicism has been reported to be present in as high as 70 of cleavage stage embryos and 90 of blastocyst stage embryos derived from in vitro fertilization 2 genetic mosaicism can result from many different mechanisms including chromosome non disjunction anaphase lag and endoreplication 2 anaphase lagging is the most common way by which mosaicism arises in the preimplantation embryo 2 mosaicism can also result from a mutation in one cell during development in which the mutation is passed on to only its daughter cells therefore the mutation is only going to be present in a fraction of the adult cells 1 genetic mosaics may often be confused with chimerism in which two or more genotypes arise in one individual similarly to mosaicism however the two genotypes arise from the fusion of more than one fertilized zygote in the early stages of embryonic development rather than from a mutation
noise induced hearing loss
noise induced hearing loss nihl is hearing impairment resulting from exposure to loud sound people may have a loss of perception of a narrow range of frequencies impaired cognitive perception of sound or other impairment including sensitivity to sound or ringing in the ears
post thrombotic syndrome
neglected tropical diseases
neglected tropical diseases ntds are a diverse group of tropical infections which are especially common in low income populations in developing regions of africa asia and the americas they are caused by a variety of pathogens such as viruses bacteria protozoa and helminths these diseases are contrasted with the big three diseases hiv aids tuberculosis and malaria which generally receive greater treatment and research funding in sub saharan africa the impact of these diseases as a group is comparable to malaria and tuberculosis ntd co infection can also make hiv aids and tuberculosis more deadly
neglected tropical diseases ntds are a diverse group of tropical infections which are especially common in low income populations in developing regions of africa asia and the americas they are caused by a variety of pathogens such as viruses bacteria protozoa and helminths these diseases are contrasted with the big three diseases hiv aids tuberculosis and malaria which generally receive greater treatment and research funding in sub saharan africa the impact of these diseases as a group is comparable to malaria and tuberculosis ntd co infection can also make hiv aids and tuberculosis more deadly in some cases the treatments are relatively inexpensive for example the treatment for schistosomiasis is us 0 20 per child per year nevertheless control of neglected diseases is estimated to require funding of between us 2 billion to us 3 billion over the next five to seven years some pharmaceutical companies have committed to donating all the drug therapies required and mass drug administration for example mass deworming has been successfully accomplished in several countries however preventative measures are often more accessible in the developed world but not universally available in poorer areas seventeen neglected tropical diseases are prioritized by who though other organizations define ntds differently these diseases are common in 149 countries affecting more than 1 4 billion people including more than 500 million children and costing developing economies billions of dollars every year they resulted in 142 000 deaths in 2013 — down from 204 000 deaths in 1990 of these 17 two were targeted for eradication dracunculiasis guinea worm disease by 2015 and yaws by 2020 and four for elimination blinding trachoma human african trypanosomiasis leprosy and lymphatic filariasis by 2020
auto brewery syndrome
auto brewery syndrome also known as gut fermentation syndrome is a rare medical condition in which intoxicating quantities of ethanol are produced through endogenous fermentation within the digestive system one gastrointestinal organism saccharomyces cerevisiae a type of yeast has been identified as a pathogen for this condition claims of endogenous fermentation of this type have been used as a defense against drunk driving charges one case went undetected for 20 years it has also been investigated but eliminated as a possible cause of sudden infant death syndrome
auto brewery syndrome also known as gut fermentation syndrome is a rare medical condition in which intoxicating quantities of ethanol are produced through endogenous fermentation within the digestive system one gastrointestinal organism saccharomyces cerevisiae a type of yeast has been identified as a pathogen for this condition claims of endogenous fermentation of this type have been used as a defense against drunk driving charges one case went undetected for 20 years it has also been investigated but eliminated as a possible cause of sudden infant death syndrome a variant occurs in persons with liver abnormalities that prevent them from excreting or breaking down alcohol normally patients with this condition can develop symptoms of auto brewery syndrome even when the gut yeast produces a quantity of alcohol that is too small to intoxicate a healthy individual
falling accident
falling is the second leading cause of accidental death worldwide and is a major cause of personal injury especially for the elderly falls in older adults are an important class of preventable injuries builders electricians miners and painters are occupations with high rates of fall injuries about 155 million new cases of a significant fall occurred in 2013 these unintentional falls resulted in 556 000 deaths up from 341 000 deaths in 1990
visual snow
visual snow visual static or persistent visual snow is a transitory or persisting medical disorder in which sufferers see snow or television like static in parts or the whole of their visual fields constantly in all light conditions even visible in daylight darkness and with closed eyelids the severity or density of the snow differs from one person to the next in many circumstances the condition negatively affects daily life making it difficult or impossible to read drive perform routine tasks see in detail even in bright daylight or focus correctly because of afterimages and numerous other visual and non visual co morbidities as discussed below indeed medical literature refers to the condition as disabling and debilitating the use of computer screens can exacerbate
uterine cancer
uterine cancer or womb cancer is any type of cancer that emerges from the tissue of the uterus it can refer to several types of cancer with cervical cancer arising from the lower portion of the uterus being the most common type worldwide and the second most common cancer in women in developing countries endometrial cancer or cancer of the inner lining of the uterus is the second most common type and fourth most common cancer in women from developed countries risk factors depend on specific type but obesity older age and human papillomavirus infection add the greatest risk of developing uterine cancer early on there may be no symptoms but irregular vaginal bleeding pelvic pain or fullness may develop if caught early most types of uterine cancer can be cured using surgical
lazarus syndrome
lazarus syndrome also known as autoresuscitation after failed cardiopulmonary resuscitation is the spontaneous return of circulation after failed attempts at resuscitation its occurrence has been noted in medical literature at least 38 times since 1982 it takes its name from lazarus who in the new testament of the bible was raised from the dead by jesus
lazarus syndrome also known as autoresuscitation after failed cardiopulmonary resuscitation is the spontaneous return of circulation after failed attempts at resuscitation its occurrence has been noted in medical literature at least 38 times since 1982 it takes its name from lazarus who in the new testament of the bible was raised from the dead by jesus occurrences of the syndrome are extremely rare and the causes are not well understood one hypothesis for the phenomenon is that a chief factor though not the only one is the buildup of pressure in the chest as a result of cardiopulmonary resuscitation cpr the relaxation of pressure after resuscitation efforts have ended is thought to allow the heart to expand triggering the heart s electrical impulses and restarting the heartbeat other possible factors are hyperkalemia or high doses of epinephrine
olecranon fracture
olecranon fracture is a fracture of the bony portion of the elbow the injury is fairly common and often occurs following a fall or direct trauma to the elbow the olecranon is the proximal extremity of the ulna which is articulated with the humerus bone and constitutes a part of the elbow articulation its subcutaneous location makes it vulnerable to direct trauma powerful pull of the triceps muscle can also cause avulsion fractures
metastatic liver disease
a liver metastasis is a malignant tumor in the liver that has spread from another organ affected by cancer the liver is a common site for metastatic disease because of its rich dual blood supply the liver receives blood via the hepatic artery and portal vein metastatic tumors in the liver are 20 times more common than primary tumors in 50 of all cases the primary tumor is of the gastrointestinal tract other common sites include the breast ovaries bronchus and kidney
hematidrosis
monomania
in 19 th century psychiatry monomania from greek monos one and mania meaning madness or frenzy was a form of partial insanity conceived as single pathological preoccupation in an otherwise sound mind partial insanity variations of which enjoyed a long pre history in jurisprudence was in contrast to the traditional notion of total insanity exemplified in the diagnosis of mania as a global condition affecting all aspects of understanding and which reflected the position that the mind or soul was an indivisible entity coined by the french psychiatrist jean étienne dominique esquirol 1772 – 1840 around 1810 monomania was a new disease concept characterised by the presence of an expansive idée fixe in which the mind was diseased and deranged in some facets but otherwise normal
in 19 th century psychiatry monomania from greek monos one and mania meaning madness or frenzy was a form of partial insanity conceived as single pathological preoccupation in an otherwise sound mind partial insanity variations of which enjoyed a long pre history in jurisprudence was in contrast to the traditional notion of total insanity exemplified in the diagnosis of mania as a global condition affecting all aspects of understanding and which reflected the position that the mind or soul was an indivisible entity coined by the french psychiatrist jean étienne dominique esquirol 1772 – 1840 around 1810 monomania was a new disease concept characterised by the presence of an expansive idée fixe in which the mind was diseased and deranged in some facets but otherwise normal in others esquirol and his circle delineated three broad categories of monomania coherent with the traditional tripartite classification of the mind into intellectual emotional and volitional faculties emotional monomania is that in which the patient is obsessed with only one emotion or several related to it intellectual monomania is that which is related to only one kind of delirious idea or ideas although monomania was retained as one of seven recognized categories of mental illness in the 1880 us census its importance as a psychiatric diagnostic category was in decline from the mid 19 th century
hyperviscosity syndrome
hyperviscosity syndrome is a group of symptoms triggered by increase in the viscosity of the blood symptoms of high blood viscosity include spontaneous bleeding from mucous membranes visual disturbances due to retinopathy and neurologic symptoms ranging from headache and vertigo to seizures and coma hyperviscosity occurs from pathologic changes of either cellular or protein fractions of the blood such as is found in polycythemias multiple myeloma particularly iga and igg 3 leukemia monoclonal gammopathies such as waldenström macroglobulinemia sickle cell anemia and sepsis
anti nmda receptor encephalitis
anti nmda n methyl d aspartate receptor encephalitis also termed nmda receptor antibody encephalitis is an acute form of encephalitis that is potentially lethal but has a high probability for recovery with treatment it is caused by an autoimmune reaction primarily against the nr 1 subunit of the nmda receptor different descriptions and syndromal designations for this disease existed in medical literature prior to 2007 but it was then that the disease was officially categorized and named by dr josep dalmau and colleagues
steatopygia
steatopygia is the state of having substantial levels of tissue on the buttocks and thighs this build is not confined to the gluteal regions but extends to the outside and front of the thighs and tapers to the knee producing a curvaceous figure the term is from the greek στέαρ stéar meaning tallow and πυγή pugḗ meaning rump
oligoastrocytoma
oligoastrocytomas are a subset of brain tumors that present with an appearance of mixed glial cell origin astrocytoma and oligodendroglioma these types of glial cells that become cancerous are involved with insulating and regulating the activity of neuron cells in the central nervous system often called a mixed glioma about 2 3 of all reported brain tumors are diagnosed as oligoastrocytoma the median age of diagnosis is 42 5 oligoastrocytomas like astrocytomas and oligodendrogliomas can be divided into low grade and anaplastic variant the latter characterized by high cellularity conspicuous cytologic atypism mitotic activity and in some cases microvascular proliferation and necrosis
empty nose syndrome
empty nose syndrome ens is a rare clinical syndrome in which people who have clear nasal passages experience a range of symptoms most commonly feelings of nasal obstruction nasal dryness and crusting and a sensation of being unable to breathe people who experience ens have usually undergone a turbinectomy removal or reduction of turbinates structures inside the nose or other surgical procedures that interfere with turbinates the overall incidence is unknown but it appears to occur in a small percentage of those who undergo nasosinal procedures it appears to be a health care caused condition but its existence as a medical condition cause diagnosis and management are controversial no one disputes that people with the symptoms suffer a great deal
moyamoya disease
hill – sachs lesion
a hill – sachs lesion or hill – sachs fracture is a cortical depression in the posterolateral head of the humerus it results from forceful impaction of the humeral head against the anteroinferior glenoid rim when the shoulder is dislocated anteriorly
chemotherapy induced acral erythema
warfarin necrosis
warfarin induced skin necrosis or more generally anticoagulant induced skin necrosis is a condition in which skin and subcutaneous tissue necrosis tissue death occurs due to acquired protein c deficiency following treatment with anti vitamin k anticoagulants coumadins such as warfarin development of the syndrome is associated with the use of large loading doses at the start of treatment
warfarin induced skin necrosis or more generally anticoagulant induced skin necrosis is a condition in which skin and subcutaneous tissue necrosis tissue death occurs due to acquired protein c deficiency following treatment with anti vitamin k anticoagulants coumadins such as warfarin warfarin necrosis is a rare but severe complication of treatment with warfarin or related anticoagulants the typical patient appears to be an obese middle aged woman median age 54 years male to female ratio 1 3 this drug eruption usually occurs between the third and tenth days of therapy with warfarin derivatives the first symptoms are pain and redness in the affected area as they progress lesions develop a sharp border and become petechial then hard and purpuric they may then resolve or progress to form large irregular bloody bullae with eventual necrosis and slow healing eschar formation favored sites are breasts thighs buttocks and penis all areas with subcutaneous fat in rare cases the fascia and muscle are involved development of the syndrome is associated with the use of large loading doses at the start of treatment
hospital acquired infection
hospital acquired infection hai — also known as nosocomial infection — is an infection that is contracted from the environment or staff of a healthcare facility it can be spread in the hospital environment nursing home environment rehabilitation facility clinic or other clinical settings infection is spread to the susceptible patient in the clinical setting by a number of means health care staff can spread infection in addition to contaminated equipment bed linens or air droplets the infection can originate from the outside environment another infected patient staff that may be infected or in some cases the source of the infection cannot be determined in some cases the microorganism originates from the patient s own skin microbiota becoming opportunistic after surgery or
hospital acquired infection hai — also known as nosocomial infection — is an infection that is contracted from the environment or staff of a healthcare facility it can be spread in the hospital environment nursing home environment rehabilitation facility clinic or other clinical settings infection is spread to the susceptible patient in the clinical setting by a number of means health care staff can spread infection in addition to contaminated equipment bed linens or air droplets the infection can originate from the outside environment another infected patient staff that may be infected or in some cases the source of the infection cannot be determined in some cases the microorganism originates from the patient s own skin microbiota becoming opportunistic after surgery or other procedures that compromise the protective skin barrier though the patient may have contracted the infection from their own skin the infection is still considered nosocomial since it develops in the health care setting in the united states the centers for disease control and prevention estimated roughly 1 7 million hospital associated infections from all types of microorganisms including bacteria and fungi combined cause or contribute to 99 000 deaths each year in europe where hospital surveys have been conducted the category of gram negative infections are estimated to account for two thirds of the 25 000 deaths each year nosocomial infections can cause severe pneumonia and infections of the urinary tract bloodstream and other parts of the body many types are difficult to treat with antibiotics in addition antibiotic resistance can complicate treatment
pregnancy
pregnancy also known as gravidity or gestation is the time during which one or more offspring develops inside a woman a multiple pregnancy involves more than one offspring such as with twins pregnancy can occur by sexual intercourse or assisted reproductive technology it usually lasts around 40 weeks from the last menstrual period lmp and ends in childbirth this is just over nine lunar months where each month is about 29½ days when measured from conception it is about 38 weeks an embryo is the developing offspring during the first eight weeks following conception after which the term fetus is used until birth symptoms of early pregnancy may include missed periods tender breasts nausea and vomiting hunger and frequent urination pregnancy may be confirmed with a pregnancy
pregnancy also known as gravidity or gestation is the time during which one or more offspring develops inside a woman a multiple pregnancy involves more than one offspring such as with twins pregnancy can occur by sexual intercourse or assisted reproductive technology it usually lasts around 40 weeks from the last menstrual period lmp and ends in childbirth this is just over nine lunar months where each month is about 29½ days when measured from conception it is about 38 weeks an embryo is the developing offspring during the first eight weeks following conception after which the term fetus is used until birth symptoms of early pregnancy may include missed periods tender breasts nausea and vomiting hunger and frequent urination pregnancy may be confirmed with a pregnancy test pregnancy is typically divided into three trimesters the first trimester is from week one through 12 and includes conception conception is when the sperm fertilizes the egg the fertilized egg then travels down the fallopian tube and attaches to the inside of the uterus where it begins to form the fetus and placenta the first trimester carries the highest risk of miscarriage natural death of embryo or fetus the second trimester is from week 13 through 28 around the middle of the second trimester movement of the fetus may be felt at 28 weeks more than 90 of babies can survive outside of the uterus if provided high quality medical care the third trimester is from 29 weeks through 40 weeks prenatal care improves pregnancy outcomes prenatal care may include taking extra folic acid avoiding drugs and alcohol regular exercise blood tests and regular physical examinations complications of pregnancy may include high blood pressure of pregnancy gestational diabetes iron deficiency anemia and severe nausea and vomiting among others term pregnancy is 37 to 41 weeks with early term being 37 and 38 weeks full term 39 and 40 weeks and late term 41 weeks after 41 weeks it is known as post term babies born before 37 weeks are preterm and are at higher risk of health problems such as cerebral palsy delivery before 39 weeks by labor induction or caesarean section is not recommended unless required for other medical reasons about 213 million pregnancies occurred in 2012 of which 190 million were in the developing world and 23 million were in the developed world the number of pregnancies in women ages 15 to 44 is 133 per 1 000 women about 10 to 15 of recognized pregnancies end in miscarriage in 2013 complications of pregnancy resulted in 293 000 deaths down from 377 000 deaths in 1990 common causes include maternal bleeding complications of abortion high blood pressure of pregnancy maternal sepsis and obstructed labor globally 40 of pregnancies are unplanned half of unplanned pregnancies are aborted among unintended pregnancies in the united states 60 of the women used birth control to some extent during the month pregnancy occurred
teenage pregnancy
teenage pregnancy is pregnancy in human females under the age of 20 a girl can become pregnant from sexual intercourse after she has begun to ovulate which can be before her first menstrual period menarche but usually occurs after the onset of her periods in well nourished girls menarche usually takes place around the age of 12 or 13 teenage pregnancies appear to be preventable by comprehensive sex education and access to birth control abstinence only sex education does not appear to be effective
malingering
malingering is fabricating or exaggerating the symptoms of mental or physical disorders for a variety of secondary gain motives which may include financial compensation often tied to fraud avoiding school work or military service obtaining drugs getting lighter criminal sentences or simply to attract attention or sympathy malingering is different from somatization disorder and factitious disorder failure to detect actual cases of malingering imposes a substantial economic burden on the health care system and false attribution of malingering imposes a substantial burden of suffering on a significant proportion of the patient population according to the texas department of insurance fraud that includes malingering costs the u s insurance industry approximately 150 billion ea
misophonia
daentl townsend siegel syndrome
daentl townsend siegel syndrome is a very rare disorder characterized by blue sclerae kidney malfunction thin skin and hydrocephalus it was first identified by d l daentl et al in 1978 daentl townsend siegel syndrome is also known as hydrocephalus blue sclera nephropathy and familial nephrosis hydrocephalus thin skin blue sclerae syndrome
de barsy syndrome
de barsy syndrome is a rare autosomal recessive genetic disorder symptoms include cutis laxa loose hanging skin as well as other eye musculoskeletal and neurological abnormalities it is usually progressive manifesting side effects that can include clouded corneas cataracts short stature dystonia or progeria premature aging alternative names for de barsy syndrome include corneal clouding cutis laxa mental retardation cutis laxa growth deficiency syndrome de barsy – moens – diercks syndrome and progeroid syndrome of de barsy