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Incontinentia Pigmenti

Incontinentia Pigmenti Causes

Most of IP cases are caused by a deletion in the NEMO gene. An estimated one half of all cases are spontaneous mutations. Most of the new mutations arise in the germline cells in the father's gonads.

Incontinentia Pigmenti Definition

Incontinentia Pigmenti (IP) is a genetic disorder that affects the skin, hair, nails and teeth. It is also called Bloch Sulzberger syndrome, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus.

Incontinentia Pigmenti Diagnosis

The diagnosis of IP is done by clinical findings and occasionally by corroborative skin biopsy. Molecular genetic testing of the IKBKG gene (chromosomal locus Xq28) shows disease-causing mutations in about 80% of probands. Such testing is found clinically. Additionally, females with IP have skewed X-chromosome inactivation; testing for this can be used to support the diagnosis.

Incontinentia Pigmenti Symptoms and Signs

Eye abnormalities are found in about one-third of all people with incontinentia pigmenti (IP). They include disorders of the lens, retina, optic nerve, and muscles of the eyes. An estimated one-third of girls with IP have a turned eye.

Incontinentia Pigmenti Treatment

The treatment for babies with incontinentia pigmenti should be concentrated on the potential for the rapid development of irreversible blindness rather than on the obvious skin changes. If the ophthalmologist finds retinal abnormalities prior to the development of retinal detachment or bleeding, laser or other surgical procedures can be done to prevent visual loss. In addition, if retinal detachment is found early, surgical intervention can help preserve the person's vision.

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