Important It is possible that the main title of the report Erythrokeratodermia with Ataxia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Giroux Barbeau Syndrome
Erythrokeratodermia with ataxia (EKDA) is a hereditary disorder of the skin and nervous system (neurocutaneous syndrome) characterized by groups of hard, red plaques that develop during infancy and childhood. When these skin lesions heal, the disorder seems to become dormant for several years, after which the neurological symptoms and signs emerge in the form of a typically awkward gait (ataxia) when the affected individual is around 40 years of age or older.
Many researchers active in the study of the family of diseases known as the ichthyoses consider EKDA to be a variant of an ichthyotic disorder, erythrokeratodermia variabilis (EKDV). However, there is no general consensus on this at this time.
Foundation for Ichthyosis & Related Skin Types 2616 N Broad Street Colmar, PA 18915 Tel: (215)997-9400 Fax: (215)997-9403 Tel: (800)545-3286 Email: firstname.lastname@example.org Internet: http://www.firstskinfoundation.org
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse One AMS Circle Bethesda, MD 20892-3675 USA Tel: (301)495-4484 Fax: (301)718-6366 Tel: (877)226-4267 TDD: (301)565-2966 Email: NIAMSinfo@mail.nih.gov Internet: http://www.niams.nih.gov/
National Registry for Ichthyosis and Related Disorders University of Washington Dermatology Dept. Box 356524 1959 N.E. Pacific Street Seattle, WA 98195-6524 Tel: (800)595-1265 Email: email@example.com Internet: http://www.skinregistry.org/
Canadian Association for Familial Ataxias - Claude St-Jean Foundation 3800 Radisson Street Office 110 Montreal Quebec, H1M 1X6 Canada Tel: 5143218684 Tel: 8553218684 Email: firstname.lastname@example.org Internet: http://www.lacaf.org
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 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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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
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Last Updated: 3/31/2008 Copyright 1988, 1989, 1992, 1993, 1997, 2005 National Organization for Rare Disorders, Inc.
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