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Incontinentia pigmenti

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

  • Alternative Names
    • Bloch-Sulzberger syndrome

  • 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.

  • 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

      People 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.

      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.

      To confirm diagnosis, these tests may be done:

  • 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.

  • 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.

      James WD, Berger TG, Elston DM. Genodermatoses and congenital anomalies. James WD, Berger TG, Elston DM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 12th ed. Philadelphia, PA: Elsevier; 2016:chap 27.