Health Encyclopedia

Home | List of Topics | Children's Health | General Pediatrics

Incontinentia pigmenti

Definition

Incontinentia pigmenti is skin condition passed down through families that causes 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)
• Mental retardation
• 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

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

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 persons with a family history of IP who are considering having children.

Review Date:4/16/2007
Reviewed By:Michael S. Lehrer, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.