Congenital insensitivity to pain with anhidrosis
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It has been suggested that this article or section be merged into Congenital insensitivity to pain. (Discuss) |
| Congenital insensitivity to pain with anhidrosis Classification and external resources |
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| OMIM | 256800 |
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| MeSH | D009477 |
Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely 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.
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[edit] 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. CIPA is also most common amongst Ashkenazi Jews.
[edit] 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.
CIPA has been associated with NTRK1.[1]
[edit] Incidence
CIPA is extremely rare. There are only 84 documented cases in the United States, while more than 300 in Japan.
[edit] See also
[edit] References
- ^ Shatzky S, Moses S, Levy J, et al (2000). "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. doi:. PMID 10861667.
[edit] 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.
