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Incontinentia Pigmenti Synonym(s): Reviewed 11-02-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) 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 a rare, genetic disorder characterized by unusual patterns of discolored skin. The genetic transmission is X-linked dominant. Males are more severely affected than females. The disorder is caused by excessive deposits of melanin (normal skin pigment). IP is divided into 4 stages, which frequently overlap or appear together. During the first stage, which begins between birth and 6 months of age, there is inflammation accompanied by skin redness and spiral lines of small fluid-filled blisters. The second stage gradually develops with rough, warty skin growths which appear on the arms or legs and, sometimes, on the head or trunk. These growths, which are often arranged in the same spiral or linear pattern as in the first stage, usually resolve during infancy or early childhood. The third stage begins between 3 months and 2 years of age and is characterized by discolorations appearing in unusual patterns. The fourth stage consists of diminished pigmentation or atrophy in areas of previous discoloration. In rare cases of IP, hair loss with scarring and non-dermatological symptoms such as dental problems (delayed tooth growth or decay, missing or malformed teeth), diminished vision, seizures, muscle spasms, or slight paralysis may occur. Developmental abnormalities including dwarfism or short stature, club foot, spina bifida, skull and ear deformities, cleft lip or palate, atrophy on one side of the body, abnormal development of cartilage, congenital dislocation of hip, incomplete development of one side of the spinal bones, and extra ribs or webbed fingers may occur with the disorder but are not characteristic. In a few cases of IP, extremely wooly or kinky hair and an immune system dysfunction may also appear. Is there any treatment? What is the prognosis? What research is being done? National Organization for Rare Disorders (NORD)
National Eye Institute (NEI)
National Institute of Arthritis and
Musculoskeletal and Skin Diseases (NIAMS)
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