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Incontinentia pigmenti

Definition

Incontinentia pigmenti is skin condition passed down through families. It leads to unusual blistering and changes in skin color.

See also: Incontinentia pigmenti achromians

Alternative Names

Bloch-Sulzberger syndrome

Causes, incidence, and risk factors

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

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:

  • Delayed development
  • Loss of movement (paralysis)
  • Intellectual disability
  • Muscle spasms
  • Seizures

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

Signs and tests

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

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.

Expectations (prognosis)

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

Complications

Calling your health care provider

Call your health care provider if:

  • You have a family history of IP and are considering having children
  • Your child has symptoms of this disorder

Prevention

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


Review Date: 5/13/2011
Reviewed By: Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network.  Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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