Incontinentia pigmenti

Also known as: Bloch-Sulzberger syndrome

Definition

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

Causes

Incontinentia pigmenti (IP) is caused by an x-linked dominant genetic defect.

The condition is most often seen in females. When it occurs in males, it is lethal.

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 vision problems.

Exams and tests

The doctor will perform a physical exam, look at the eyes, and test muscle movement. Imaging tests of the brain, blood tests, and a skin biopsy may be done to confirm diagnosis.

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.

Outlook (Prognosis)

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

Possible Complications

When to Call a Medical Professional

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.

References

Islam MP, Roach ES. Neurocutaneous syndromes. In: Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC, eds. Bradley’s Neurology in Clinical Practice. 6th ed. Philadelphia, Pa: Elsevier Saunders; 2012:chap 65.


Moss C. Mosaicism and linear lesions. In: Bolognia JL, Jorizzo JL, Schaffer JV, eds. Dermatology. 3rd ed. Philadelphia, Pa: Elsevier Saunders; 2012:chap 62.

Review date:
September 11, 2013
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, Bethanne Black, and the A.D.A.M. Editorial team.
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