Is there a cure for incontinentia pigmenti?
While there is no known cure for incontinentia pigmenti (IP), there are treatment protocols and recommended medical specialists for affected areas of the body like skin, hair, eyes and more.
What are the effects of incontinentia pigmenti?
Incontinentia pigmenti (IP) is a genetic condition that affects the skin and other body systems. Skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. The growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood.
What causes incontinentia pigmenti syndrome?
Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis ) in response to certain signals.
What is incontinentia pigmenti disorder?
Incontinentia pigmenti (IP) is a genetic disorder with distinctive skin rashes and lesions seen at birth or within the first few weeks. The majority of children with IP don’t have complications and may be only mildly affected, if at all. But around 20% develop neurological problems that can range from mild to severe.
Is Lesch Nyhan syndrome fatal?
Lesch Nyhan syndrome is caused by changes ( mutations ) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.
What is Incontinentia pigmenti?
Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood.
Where can I get a genetic test for incontinentia pigmenti?
Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Orphanet lists international laboratories offering diagnostic testing for this condition. There is no specific treatment for incontinentia pigmenti.
What is the life expectancy of someone with incontinentia pigmenti (IP)?
Life expectancy is considered to be normal for people with incontinentia pigmenti (IP) who did not develop significant complications in the newborn period or in infancy. [2] [3] Newborns with IP who develop seizures and people with significant neurological involvement may have a worse prognosis. [5]