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Alternative Names Return to top
Bloch-Sulzberger syndromeDefinition Return to top
Incontinentia pigmenti is skin condition passed down through families. It leads to 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 those with a family history of IP who are considering having children.
Update Date: 4/15/2009 Updated by: Jonathan Kantor, MD, North Florida Dermatology Associates, Jacksonville, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
