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Articles » NINDS Incontinentia Pigmenti Information Page: NINDS

NINDS Incontinentia Pigmenti Information Page: NINDS

Article title: NINDS Incontinentia Pigmenti Information Page: NINDS

Main condition: Incontinentia Pigmenti

Conditions: Incontinentia Pigmenti

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?
The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. Dental and hair problems may be treated by a specialist. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist.

What is the prognosis?
Although the skin abnormalities usually regress, and sometimes disappear completely, there may be residual neurological difficulties.

What research is being done?
Research on IP is aimed at increasing knowledge and understanding of the disorder, and finding ways to prevent, treat, and cure it. The IP gene is located on chromosome Xq28.

Selected references

Bradley, W, et al (eds)
Neurology in Clinical Practice: Principles of Diagnosis and Management. vol. II, Butterworth-Heinemann, Boston, pp. 1338-1339 (1991).

Catalano, R.
Incontinentia Pigmenti. American Journal of Ophthalmology, 110:6; 696-700 (December 1990).

Catalano, R, et al.
Treatment of Proliferative Retinopathy Associated with Incontinentia Pigmenti. American Journal of Ophthalmology, 110:6; 701-702 (December 1990).

Rahi, J, and Hungerford, J.
Early Diagnosis of the Retinopathy of Incontinentia Pigmenti: Successful Treatment by Cryotherapy. British Journal of Ophthalmology, 74:6; 377-379 (June 1990).

Rowland, L (ed).
Merritt's Textbook of Neurology. 8th edition, Lea & Febiger, Philadelphia, p. 585 (1989).


National Organization for Rare Disorders (NORD)
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National Eye Institute (NEI)
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Tel: 301-496-5248 Professionals 800-869-2020

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health
Bldg. 31, Rm. 4C05
Bethesda, MD 20892-2350
Tel: 301-496-8188 877-22-NIAMS (226-4267)

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892


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