Congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis
Classification and external resources OMIM DiseasesDB MeSH 256800 32097 [1]

[2] [3]

D009477

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV is an extremely rare inherited disorder of the nervous system which prevents the sensation of pain, heat, cold, or any real nerve-related sensations (including feeling the need to urinate); however, patients can still feel pressure. CIPA is the fourth type of hereditary sensory and autonomic neuropathy (HSAN), known as HSAN IV. (It is also referred to as HSAN Type IV). A person with CIPA cannot feel pain or differentiate even 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, hyperthermia during hot weather because of inability to sweat, syndromic mental retardation as a result of hyperthermia, 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. Other common problems are eye related, such as infection due to the sufferers rubbing them too hard, too frequently or scratching them during sleep. In addition, patients typically lack unmyelinated and small myelinated nerve fibers in the dorsal root ganglion. Both are responsible for transmitting pain signals. In addition, patients' sweat glands are normal in both structure and function, though they lack innervations by small diameter neurons.[]

Differential diagnosis
Congenital insensitivity to pain with anhidrosis may be misdiagnosed for leprosy, based on similar symptoms of severe injuries to the hands and feet.

Charcot joints are demonstrated in this boy with HSAN IV or congenital insensitivity to pain with anhidrosis (CIPA). The right knee and right ankle (on the left of the picture) are enlarged and distorted. The skin over the medial aspect of the ankle is darkened with a draining wound secondary to superimposed osteomyelitis. There are other areas of trauma and ulcers including a site on the right heel.

Congenital insensitivity to pain with anhidrosis

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. The disorder is autosomal recessive. It does not appear to have any particular ethnic distribution, though it is more prevalent in cultures in which intermarriage is an accepted practice.[] Overheating kills more than half of all children with CIPA before age 3. The genetic mutation is in the gene encoding the neurotrophic tyrosine kinase receptor (NTRK1 gene).[] NTRK1 is a receptor for nerve growth factor (NGF). This protein induces outgrowth of axons and dendrites and promotes the survival of embryonic sensory and sympathetic neurons. The mutation in NTRK1 does not allow NGF to bind properly, causing defects in the development and function of nociceptive reception.[]

In the media
The manga and anime series Loveless features 4 characters, the Zero, with this condition. Notably they were genetically engineered to possess it as their creator believed being unable to feel pain would make them better warriors. In the third season of the TV series House in the episode "Insensitive" (14th episode), the patient (Hannah Morganthal, played by Mika Boorem) suffers from this condition. In the third season of the TV series Grey's Anatomy in the episode "Sometimes a Fantasy", Abigail Breslin's character, Megan Clover, is diagnosed with this condition. In the seventh season of the TV series Criminal Minds in the episode "Painless"(4th episode), the unknown subject of the episode suffers from the condition. Baby Carson was featured on Discovery Health Channel's Mystery Diagnosis episode "The Boy Who Never Cried", which aired on 21 November 2009. Dr. David Christopher of Valley Children's Clinic, Renton, Washington is his doctor. In Stieg Larsson's novel The Girl Who Played with Fire, one of the villains, known through most of the book as the "blonde giant", suffers from the disorder. In the 2010 film Bereavement, 6 year old Martin Bristol, one of the main characters, suffers from CIPA. In the BBC1 hospital drama Holby City, in the episode entitled "Wolf's Clothing", first broadcast on 15 May 2012, a teenage girl called Kitty is found to have CIPA, which is responsible for her heart condition having been undiagnosed. In the Show TV drama Sleepers, one of the main characters, Gazanfer Bircan, had CIPA when he was a child. Symptoms of the disease continue when he is 30 years old. Because of CIPA, he harms and injures people around him. In the book The Rook by Steven James, the character Creighton Malice suffers from this condition. In the Japanese BL game DRAMAtical Murder one of the main characters, Noiz, is unable to feel pain.

Congenital insensitivity to pain with anhidrosis

References
[1] http:/ / omim. org/ entry/ 256800 [2] http:/ / www. diseasesdatabase. com/ ddb32097. htm [3] http:/ / www. nlm. nih. gov/ cgi/ mesh/ 2013/ MB_cgi?field=uid& term=D009477

External links
The Facts of Painless People (http://www.thefactsofpainlesspeople.com/) The website of two adults on separate sides of the world who were born with CIPA. Help Roberto (http://www.helproberto.com/) 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.

Article Sources and Contributors

Article Sources and Contributors

Congenital insensitivity to pain with anhidrosis Source: http://en.wikipedia.org/w/index.php?oldid=570987616 Contributors: AZDub, Acdx, Aftershock6249, Ajeaton7, Akersmc, Angr, Antiaverage, Arcadian, Axeman89, Axl, Beard0, Beefyt, Before My Ken, Bigtimepeace, Bryan Derksen, CapitalR, Captain Wikify, Chefyingi, Cherkash, ChrisGualtieri, Cmicek, CopperKettle, Damuna, Daniel Sheir, Darev, David spector, Denis C., Discospinster, DocWatson42, DragonHawk, DragonflySixtyseven, Dragonrose36, Drahreg01, Eleassar, Elmer Clark, Enis123, EoGuy, Epbr123, Epitome83, Epsoul, Equazcion, Evil Monkey, Filip en, Fred J, Fvasconcellos, Fyrael, Gilo1969, Graham87, HoratioVitero, Ichiro Kikuchi, Intelligentsium, Ioana cis, Jeff3000, Jetman, John254, Jon the Geek, K!r!lleXXI, KaragouniS, Kashmiri, Kchaves7, Kernel.package, Kjkolb, Krsont, Lakefall, Lapse29, Lawt3, Lowellian, Magedark, Maralia, Marek69, MarnixR, Martarius, Master Bob, Matty4123, Meggilyweggily, Metaphilosopher, My Core Competency is Competency, Natox, NickPenguin, NoPetrol, Oconnor663, Ohnoitsjamie, Piano non troppo, Psychonaut, Quadraxis, Qwyrxian, Rajah, Reywas92, Rich Farmbrough, Rjwilmsi, Ronark, S pete98611, SaxonMaiden, Sonicblade128, SpaceFlight89, Stevenfruitsmaak, Stillnotelf, Swervancrash, Talon Foot, Tcnuk, TenPoundHammer, TheParanoidOne, Thricecube, Thumperward, Tracy2214, Trance Blossom, Trovatore, WLU, WhatamIdoing, Wilybadger, Wimt, Wouterstomp, Xil, Zigger, ZooFari, 250 anonymous edits

Image Sources, Licenses and Contributors

File:HSANIV (CIPA).jpg Source: http://en.wikipedia.org/w/index.php?title=File:HSANIV_(CIPA).jpg License: Creative Commons Attribution 2.0 Contributors: Axelrod FB et al.

License
Creative Commons Attribution-Share Alike 3.0 Unported //creativecommons.org/licenses/by-sa/3.0/