Erythrokeratodermia with Ataxia

National Organization for Rare Disorders, Inc.

Skip to the navigation

Important
It is possible that the main title of the report Erythrokeratodermia with Ataxia is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

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.

Supporting Organizations

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: info@firstskinfoundation.org
Website: http://www.firstskinfoundation.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
Website: http://rarediseases.info.nih.gov/GARD/

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
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

National Registry for Ichthyosis and Related Disorders

University of Washington
Dermatology Dept. Box 356524
Seattle, WA 98195-6524
Tel: (800)595-1265
Email: info@skinregistry.org
Website: http://www.skinregistry.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:  3/31/2008
Copyright  2005 National Organization for Rare Disorders, Inc.