MedlinePlus Medical Encyclopedia: Incontinentia pigmenti

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Incontinentia pigmenti

Contents of this page:
Illustrations Alternative Names Definition Causes Symptoms Exams and Tests	Treatment Outlook (Prognosis) Possible Complications When to Contact a Medical Professional Prevention

Illustrations

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.

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:

Delayed development
Loss of movement (paralysis)
Mental retardation
Muscle spasms
Seizures

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

Delayed development
Infections of blistered skin
Mental retardation
Muscle spasticity
Paralysis
Seizures
Walking difficulty
Vision problems

When to Contact a Medical Professional Return to top

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 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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