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Incontinentia pigmenti

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Illustrations

Incontinentia pigmenti on the leg
Incontinentia pigmenti on the leg
Incontinentia pigmenti on the leg
Incontinentia pigmenti on the leg

Alternative Names    Return to top

Bloch-Sulzberger syndrome

Definition    Return to top

Incontinentia pigmenti is skin condition passed down through families that causes unusual blistering and changes in skin color.

See also: Incontinentia pigmenti achromians

Causes    Return to top

Incontinentia pigmenti (IP) is caused by a genetic defect. In most cases, there is a problem with one of the genes located on the X chromosome.

See also: X-linked trait

The condition is most often seen in females. When it occurs in males, it can be deadly.

Most babies born with IP develop discolored skin within the first 2 weeks. The discolored skin occurs when a substance called melanin builds up under the skin. Melanin gives skin its color.

Symptoms    Return to top

Infants with IP are born with streaky, blistering areas. When the areas heal, they turn into rough bumps. Eventually, these bumps go away, but leave behind darkened skin, called hyperpigmentation. After several years, the skin returns to normal. In some adults, there may be areas of lighter colored skin (hypopigmentation).

IP is associated with central nervous system problems, including:

Persons with IP may also have abnormal teeth, hair loss, and visual problems.

Exams and Tests    Return to top

The doctor will perform a physical exam, look at the eyes, and test muscle movement.

There may be unusual patterns and blisters on the skin, as well as bone abnormalities. An eye exam may reveal cataracts, strabismus (crossed eyes), or other problems.

Treatment    Return to top

There is no specific treatment for IP. Treatment is aimed at the individual symptoms. For example, glasses may be needed to improve vision. Medicine may be prescribed to help control seizures or muscle spasms.

Outlook (Prognosis)    Return to top

How well a person does depends on the severity of central nervous system involvement and eye problems.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

Call your health care provider if:

Prevention    Return to top

Genetic counseling may be helpful for persons with a family history of IP who are considering having children.

Update Date: 4/16/2007

Updated by: Michael S. Lehrer, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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