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Hypomelanosis of Ito

Abstract

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NORD is very grateful to Raymond E. Boissy, PhD, Professor of Dermatology & Cell Biology, Department of Dermatology, University of Cincinnati College of Medicine, for assistance in the preparation of this report.

Synonyms of Hypomelanosis of Ito

  • HMI
  • Incontinenti Pigmenti Achromians
  • IPA
  • ITO
  • Ito Hypomelanosis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Hypomelanosis of Ito is a rare condition characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). These skin changes may present as patches, streaks or spiral-shaped (whorled) areas. In many cases, additional symptoms affecting areas outside of the skin also occur. There are a wide variety of symptoms potentially associated with hypomelanosis of Ito. Neurological findings such as seizures and developmental delays and musculoskeletal symptoms such as abnormal curvature of the spine (scoliosis) are commonly associated with this condition. Because of the neurological and skin symptoms hypomelanosis of Ito may be referred to as a "neurocutaneous" syndrome. However, in many cases the condition arises from genetic irregularities that are present in some cells of the body, but not in others (mosaicism). Some researchers believe that hypomelanosis of Ito does not represent a distinct disorder but rather a symptom common to a group of disorders involving genetic mosaicism.

Organizations related to Hypomelanosis of Ito

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