Is there a cure for incontinentia pigmenti?

IP TREATMENT 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 causes incontinentia pigmenti?

IP is an X-linked dominant genetic disorder caused by mutations in the IKBKG gene (formerly called NEMO). IKBKG codes for a protein that helps regulate other proteins that help protect cells from self-destructing in response to specific triggers.

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 incontinentia pigmenti lethal?

Although IP is classified as a male-lethal X-linked dominant disorder, a small number of surviving male patients have been reported, some within families with typically affected female patients (Scheuerle 1998).

Is incontinentia pigmenti an autoimmune disease?

On these bases, incontinentia pigmenti (IP; or NEMO syndrome) was diagnosed and confirmed by genetic testing. The NEMO gene is implicated in immune deficiencies as well as in autoimmune diseases.

What is Bloch-Sulzberger syndrome?

Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare genodermatosis, linked to X chromosome, of autosomal dominant character, which affects ectodermal and mesodermal tissues, such as skin, eyes, teeth and central nervous system.

Is Incontinentia Pigmenti an autoimmune disease?

Who discovered Incontinentia Pigmenti?

First described by Bloch in 1926, and Sulzberger in 1928, incontinentia pigmenti (IP) is a rare X-linked genodermatosis [1, 2], which name is related to the histological characteristics of the lesions in the third stage (or pigmentary stage) of the disease (Tab.

What is Incontinentia pigmenti (Bloch-Sulzberger syndrome)?

Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007 May;79(5):355-62. [PubMed: 17569396]

What does Bloch Sulzberger syndrome stand for?

Incontinentia Pigmenti (Bloch Sulzberger Syndrome) – StatPearls Your browsing activity is empty. Activity recording is turned off. Turn recording back on See more… Follow NCBI Twitter Facebook LinkedIn GitHub Connect with NLM SM-Twitter SM-Facebook SM-Youtube National Library of Medicine 8600 Rockville Pike Bethesda, MD 20894

Why study incontinentia pigmentation pigmenti?

These studies contribute to a greater understanding of gene-linked disorders such as IP, and have the potential to open promising new avenues of treatment. Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system.

What is the other name of Bloch–Siemens syndrome?

 Other names of this disorder include Bloch–Siemens syndrome, Bloch–Sulzberger disease, melanoblastosis cutis, pigmented dermatosis Siemens-Bloch type, and nevus pigmentosus systematicus. IP is the consequence of a mutation in the IKBKG gene (formerly known as NEMO or nuclear factor kappa essential modulator).[1]