Incontinentia pigmenti syndrome

An inherited disorder that causes unusual blistering of the skin followed by increased pigmentation.

Alternative Names

Bloch-Sulzberger's disease

Causes, incidence, and risk factors

Incontinentia pigmenti syndrome (IPS) is inherited as a dominant X-linked trait . Almost all cases are among females and the condition may be lethal in males. IPS may also arise as a spontaneous mutation. Infants with IPS are born with blistery (vesicular) lesions which appear as streaks. These lesions heal as rough or verrucous papules. Eventually, these papules clear but leave damaged hyperpigmented (too much pigment) skin behind. After several years, the skin returns to normal. In some adults, whorls and streaks of faint hypopigmentation (less pigment than normal) may appear. Most people with IPS also have other problems including abnormal teeth, hair loss , and central nervous system (CNS) abnormalities. CNS problems may include retardation and delayed development, seizures , spasticity , and paralysis . Visual problems may develop in up to a third of affected people.

Signs and tests

  • classical pigmentary changes, whorls, and unusual patterns
  • early vesiculation in linear streaks (lines of
    • blisters )
  • hair loss
  • retardation
  • spasticity
  • paralysis
  • abnormal retinal findings on eye examination
  • cataracts
  • strabismus
  • (
    • crossed eyes )
  • microcephaly
  • (abnormally small head)
  • bone abnormalities

    • Treatment

    There is no one treatment for IPS. Therapies must address the specific problems that are present.

    Expectations (prognosis)

    Prognosis varies depending on the degree of central nervous system involvement and visual impairment.

    Complications

  • secondary infections
  • of blistered skin
  • mental retardation
  • delayed development
  • seizures
  • paralysis
  • muscle spasticity
  • and
    • difficulty walking
  • visual problems

    • Calling your health care provider

  • Call your health care provider if you have a family history of this disorder and are considering having children, or if your child shows symptoms that characterize this disorder.

    • Prevention

    Genetic counseling may be of value for prospective parents with a family history of IPS.

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