Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare inherited disorder of the nervous system which prevents the nociception, heat, and cold. A person with CIPA cannot feel pain or differentiate extreme temperatures. "Anhidrosis" means the body does not sweat, and "congenital" means that the condition is present from birth. The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... The nervous system is a highly specialized network whose principal components are nerves called neurons. ... Pain is both a sensory and emotional experience, generally associated tissue damage, or inflammation. ... Look up Pain in Wiktionary, the free dictionary. ... For other uses, see Temperature (disambiguation). ... Anhidrosis means lack of sweating. ... SWEAT is an OLN/TSN show hosted by Julie Zwillich that aired in 2003-2004. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ...

Clinical description

Patients with this disorder are very likely to injure themselves in ways that would normally be prevented by feeling pain. The main features of the disorder are: lack of pain sensation, painless injuries of the arms, legs and oral structures, fever during hot weather because of inability to sweat, mental retardation, infection and scarring of the tongue, lips and gums, chronic infections of bones and joints, bone fractures, multiple scars, osteomyelitis and joint deformities, which may lead to amputation. People with this disorder may not be able to feel a physical orgasm.^{[citation needed]} CIPA is also most common amongst Ashkenazi Jews. An analogue medical thermometer showing the temperature of 38. ... Mental retardation is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal global intellectual capacity as an adult. ... An infection is the detrimental colonization of a host organism by a foreign species. ... This article does not cite any references or sources. ... Internal and external views of an arm with a compound fracture, both before and after surgery A bone fracture is a medical condition in which a bone has cracked or broken. ... Osteomyelitis is an infection of bone, usually caused by pyogenic bacteria or mycobacteria. ... An orgasm (sexual climax) is the conclusion of the plateau phase of the sexual response cycle, and may be experienced by both males and females. ... Language(s) Yiddish, Hebrew, Russian, English Religion(s) Judaism Related ethnic groups Sephardi Jews, Mizrahi Jews, and other Jewish ethnic divisions Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim (Standard Hebrew: sing. ...

Cause

CIPA is caused by a genetic mutation which prevents the formation of nerve cells which are responsible for transmitting signals of pain, heat, and cold to the brain. Overheating kills more than half of all children with CIPA before age 3. This article is about mutation in biology, for other meanings see: mutation (disambiguation). ... Neurons (also called nerve cells) are the primary cells of the nervous system. ...

CIPA has been associated with NTRK1.^[1]

Incidence

CIPA is extremely rare. There are only 60 documented cases in the United States, while more than 300 in Japan, because it occurs more often in genetically homogeneous societies.^{[citation needed]} Look up Homogeneous in Wiktionary, the free dictionary. ...

It is also found in Gällivare, a Swedish village in Gällivare Municipality in northern Sweden, where nearly 40 cases have been reported; however, the disorder found in Vittangi may be of a different kind because those affected can perspire.^[2] Gällivare Municipality is a Municipality in Norrbotten County, in northern Sweden where Gällivare is seat. ... Gällivare Municipality is a Municipality in Norrbotten County, in northern Sweden. ... Sweating (also called perspiration or sometimes transpiration) is the loss of a watery fluid, consisting mainly of sodium chloride and urea in solution, that is secreted by the sweat glands in the skin of mammals. ...

In Popular Culture

On an episode of House MD titled "Insensitive", a teenage girl, who suffers from CIPA, is involved in a car crash. She undergoes extensive testing with doctors looking for any injuries that she may have suffered but cannot feel. House, M.D. (commonly promoted as just House) is an American television series produced by the Fox Broadcasting Company. ...

See also

• Congenital insensitivity to pain
• Familial dysautonomia

Congenital insensitivity to pain (or congenital analgia) is a rare condition where a person cannot feel (and has never felt) physical pain. ... Familial dysautonomia, or FD, 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...

References

1. ^ Shatzky S, Moses S, Levy J, et al (2000). "<353::AID-AJMG12>3.0.CO;2-C Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies". Am. J. Med. Genet. 92 (5): 353–60. PMID 10861667. 
2. ^ Minde J (2006). "Norrbottnian congenital insensitivity to pain". Acta orthopaedica. Supplementum 77 (321): 2-32. PMID 16768023. 

External links

• McMaster Meducator on CIPA April 2005, 6: 20-21 by Abdullah Alabousi.
• CIPA by Courtney Wood
• A Life Without Pain The website of a documentary about three children who have CIPA or similar diseases
• Help Roberto The website and online Charity of young boy with CIPA. Features Roberto's specific case, up to date information about CIPA, and links to videos on CNN and the Discovery Channel.