Hypomelanosis of Ito

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Disease Overview

Hypomelanosis of Ito, also called incontinentia pigmenti achromians, causes streaked, whirled, or mottled patches of light-colored skin. These skin changes often develop within the first two years of life. Other symptoms may include varying degrees of learning disability, seizures, increased body hair, scoliosis, and strabismus.  The exact cause is not known. Many people with hypomelanosis of Ito syndrome have cells that have the normal chromosomes and some cells with abnormal chromosomes. This is known as chromosomal mosaicism. This condition is not inherited in families. Girls tend to be affected more commonly than boys. Diagnosis is based on the symptoms, a clinical examination, and the results of a skin biopsy. Treatment is focused on managing the symptoms.[1544][1545][15981]


Synonyms

  • Ito hypomelanosis
  • ITO
  • Incontinentia pigmenti achromians
  • IPA
  • Incontinentia pigmenti type 1 (formerly)

For more information, visit GARD.

National Organization for Rare Disorders