What is Incontinentia Pigmenti disorder?

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. Is Incontinentia Pigmenti rare?
Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified.

What causes Hypomelanosis of Ito?

The exact cause of hypomelanosis of Ito is unknown. Many cases are associated with genetic mosaicism and sporadic gene mutations. Genetic mosaicism is the term for individuals who have two distinct cell lines in the body that developed because of a gene mutation that occurred during embryonic development. Is Incontinentia Pigmenti a disability?
Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease. PLoS One.

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. Is Incontinentia Pigmenti autosomal dominant?

This disorder is inherited in an autosomal dominant pattern. Franceschetti-Jadassohn syndrome is marked by skin pigmentation changes similar to those of IP, but symptoms begin during adolescence and do not follow inflammatory skin changes.

Frequently Asked Questions(FAQ)

How many cases of Incontinentia Pigmenti in the world?

IP is a rare X-linked dominant disorder. About 700 to 1000 cases have been reported worldwide (about 1 in 50,000 live births); white infants are most commonly affected. In a review of 653 patients, more than half had a family history of the condition. Our patient’s mother was also affected.

Where is Incontinentia Pigmenti located?

The incontinentia pigmenti gene is localised on chromosome Xq28. This gene normally codes for the nuclear factor-KB essential modulator protein and is known as the IKBKG gene (formerly known as NEMO or NF-kappaB gene).

What is Apert syndrome?

Apert syndrome is a rare genetic condition that is apparent at birth. People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between bones of the skull close prematurely.

What is ataxia telangiectasia?

Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic problems that lead to difficulty walking and an increased risk of developing various types of cancer. Signs of A-T often develop in childhood.

What is Goltz syndrome?

What is hypopigmentation on face?

Hypopigmentation refers to patches of skin that are lighter than your overall skin tone. Your skin’s pigmentation, or color, is based on the production of a substance called melanin. If your skin cells don’t produce enough melanin, the skin can lighten. These effects can occur in spots or may cover your entire body.

How is Hypomelanosis treated?

Medical therapy for idiopathic guttate hypomelanosis includes corticosteroids, either topical or intralesional, and retinoids, typically topical tretinoin.

How is Hypomelanosis diagnosed?

Hypomelanosis of Ito is diagnosed based on the symptoms and a clinical examination. A careful evaluation with a Wood’s lamp may help confirm the diagnosis. Additional genetic testing through a skin biopsy can look for chromosomal mosaicism.

Is IP a disability?

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.

What is IP in dermatology?

Incontinentia pigmenti (IP) is a rare inherited multisystem disorder characterized by a distinctive swirling pattern of the skin; defects of teeth, hair, and nails; and ophthalmic, central nervous system, and musculoskeletal abnormalities. It progresses through several well-defined stages.

Is Aicardi syndrome hereditary?

Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition.

What is an example of an autosomal dominant disorder?

Huntington’s disease and Marfan syndrome are two examples of autosomal dominant disorders. Mutations to BRCA1 and BRCA2 genes — which have been associated with breast cancer — also are transmitted in this pattern.

What are Blaschkos?

Blaschko lines are consistently V-shaped on the upper spine, S-shaped on the abdomen, inverted U-shaped from the breast area to the upper arm, and perpendicular down the front and back of the lower extremities. They never cross the anterior truncal midline but run along it.