Congenital insensitivity to pain with anhidrosis

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Congenital insensitivity to pain with anhidrosis
OMIM 256800
MeSH D009477

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Overview

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare inherited disorder of the nervous system which prevents the sensation of pain, 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.

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.

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.

Incidence

CIPA is extremely rare. There are only 60 documented cases in the United States and more than 300 in Japan because it occurs more often in genetically homogeneous societies.

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.[1]

In Fiction

  • In the episode "Insensitive" of House, M.D., Dr. House treats a teenage girl who is diagnosed as having CIPA.
  • In the episode "Sometimes a Fantasy" of Grey's Anatomy, a young girl has undiagnosed CIPA and a long string of injuries of her limbs and mouth. But since she feels no pain, she thinks she is a superhero.
  • "Ingenious Pain" by Andrew Miller. Main character James Dyer was born unable to feel pain. [1]
  • In the third chapter of William Peter Blatty's Legion, a patient of the character Vincent Amfortas has CIPA and dies due to complications associated with infections.
  • In the upcoming game "Dark Sector", the main character Hayden Tenno is born unable to feel pain and is able to survive into adulthood (This is also a key element to the story when later infected with a virus that turns most afflicted mad from pain).

See also

References

  1. 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.


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