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Incontinentia Pigmenti

What is Incontinentia Pigmenti?

Patient Comments
  • Incontinentia pigmenti, sometimes referred to as IP or Bloch-Sulzberger syndrome, is an unusual inherited disorder of skin pigmentation that is associated with abnormalities of the skin, teeth, bones, brain or spinal cord, and eyes.
  • The exact cause of IP is not yet known.
  • Incontinentia pigmenti is often diagnosed in affected newborns because of the presence of a characteristic rash.
  • The skin changes often disappear with time, but an evaluation for nervous system and eye disturbances must be promptly initiated.

Incontinentia Pigmenti Causes

Incontinentia pigmenti usually occurs in females, as it is an X-linked (inherited from the mother on the X, or female, chromosome) dominantly inherited disease that is lethal in males. This genetic disease is carried on the X chromosome. Girls have two X chromosomes, and the abnormal gene on one X chromosome is "balanced" by the normal gene on the other X chromosome.

Males, who have only one X chromosome, do not generally survive intrauterine life if their X chromosome has the abnormal gene for IP because they lack the balancing second X chromosome that females have. Unless a passed-on gene spontaneously mutates, all mothers of girls with IP also have IP, although the extent and degree of organ involvement is extremely variable.

Medically Reviewed by a Doctor on 2/1/2016

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Incontinentia Pigmenti »

Incontinentia pigmenti (IP) is an X-linked dominant neurocutaneous syndrome with cutaneous, neurologic, ophthalmologic, and dental manifestations.

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