Hypomelanosis of Ito

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Hypomelanosis of Ito is not the name you expected.

Disorder Subdivisions

  • None

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.

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

HITS (UK) Family Support Network

33 Fernworthy Close
Devon, TQ2 7JQ
United Kingdom
Tel: 4401803401018
Fax: 442083521824
Email: tgrant@hitsuk.freeserve.co.uk
Website: http://www.e-fervour.com/hits

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

National Foundation for Ectodermal Dysplasias

6 Executive Drive
Suite 2
Fairview Hights, IL 62208
Tel: 618-566-2020
Fax: 618-566-4718
Email: info@nfed.org
Website: http://www.nfed.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  2/17/2010
Copyright  2010 National Organization for Rare Disorders, Inc.