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Erythrokeratodermia with Ataxia

Abstract

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Synonyms of Erythrokeratodermia with Ataxia

Giroux Barbeau Syndrome

Disorder Subdivisions

No subdivisions found.

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.

Organizations related to Erythrokeratodermia with Ataxia

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