Hudsykdommer A-Å

Del på:

Oslo Hudlegesenter

Incontinentia pigmenti



What Causes incontinentia pigmenti


condition caused by a mutation in the so-called NEMO gene. This gene encoded a protein That Protects against cell death. Since presented is X-linked, mashed Patients with the disease girls. Rare cases have also BEEN Described in but dove two so-called mosaicism.



What changes is obtained in skin


Incontinentia pigmenti can not provide several changes in the skin, and skin lesions evolve through different stages. The first years of life Developer typical small blisters and rash on the arms and legs. The so -called verrukøse stage begins Typically at the age of 1-6 months, but can come only in the teens. It Evolves here wart-like growths in the skin, especially on the arms and legs. These growths often Disappears by itself. Then it Developers often a hvirvelliknende patterns with Increased pigmentation of the skin. In adulthood, it can Also apply loss of pigment, hair and thin skin (atrophy), wooden Particularly Affects adds.



Which states are Associated


Patients with incontinentia pigment has a higher frequency of illness in organs other than the skin. Around 1/3 will Develop eyestrain That in the worst case apr cause blindness. The disease often Affects only one eye. Around 1/3 Also have effects on the central nervous system. This march include epilepsy, developmental delays and paralysis. There is Also a higher frequency of malformations of teeth. In some works not Normally sweat glands, wooden can cause problems with temperature regulation hum exercise and fever.



Is there any treatment


Patients with incontinentia pigment will ask Usually Followed by several specialists . The aim is two preventable complication. Symptoms vary greatly from person two person and treatment plan must be individualized. Relevant specialists are dermatologist ophthalmologist, Pediatricians and dentists. 



23-02-2016