Incontinentia Pigmenti
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What is Incontinentia Pigmenti?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
What is Incontinentia Pigmenti?
Incontinentia pigmenti (IP) is one of a group of gene-linked diseases known as neurocutaneous disorders. These disorders cause
characteristic patterns of discolored skin and also involve the brain, eyes, nails, and hair. In most cases, IP is caused
by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored
skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin
within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed
in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include cerebral atrophy, the
formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About
20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, mental retardation,
and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental
problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features
skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.
Is there any treatment?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
National Eye Institute (NEI) National Institutes of Health, DHHS 31 Center Drive, Rm. 6A32 MSC 2510 Bethesda, MD 20892-2510 2020@nei.nih.gov http://www.nei.nih.gov Tel: 301-496-5248 |
National Institute of Arthritis and
Musculoskeletal and Skin Diseases (NIAMS) National Institutes of Health, DHHS 31 Center Dr., Rm. 4C02 MSC 2350 Bethesda, MD 20892-2350 NIAMSinfo@mail.nih.gov http://www.niams.nih.gov Tel: 301-496-8190 877-22-NIAMS (226-4267) |
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Last updated February 13, 2007