Symptoms and Signs of Incontinentia Pigmenti

Medical Author:
Medically Reviewed on 12/16/2021

Doctor's Notes on Incontinentia Pigmenti

Incontinentia pigmenti (IP or Bloch-Sulzberger syndrome) is an unusual inherited disorder of skin pigmentation that is associated with abnormalities of the skin, teeth, bones, brain, the spinal cord, and eyes. Signs and symptoms may occur first at birth with a characteristic rash that may blister. Most newborns are diagnosed at birth. Skin may develop grey or brown patches. About 33% of girls will have a turned eye. Others may have other abnormalities like retinal disorders, seizures, dental and bone abnormalities, and intellectual disability.

The cause of Incontinentia pigmenti is genetic. It is an X-linked dominantly inherited disease that is usually lethal in males. Females survive birth due to the presence of two X chromosomes where the undamaged one tries to compensate for the other damaged X chromosome.

What Are the Treatments for Incontinentia Pigmenti?

There is no known cure for IP. However, reduction of symptoms and supportive care can be done. This short introduction article cannot cover each of the various treatment protocols based on symptoms found in various organ systems. IP patients should be treated by a team of genetic specialists in the following areas:

  • Brain
  • Eyes
  • Pulmonary
  • Skin and hair
  • Teeth
  • Genetics

REFERENCE:

Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.