erythrokeratodermia variabilis


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erythrokeratodermia

 [ĕ-rith″ro-ker″ah-to-der´-me-ah]
reddening and hyperkeratosis of the skin.
erythrokeratodermia varia´bilis a rare, dominantly inherited ichthyosis characterized by circumscribed areas of erythema that undergo changes in size, shape, and distribution over a period of days, with plaques of yellow-brown scales that occur in the areas of erythema. The usual onset is at birth or in the first year of life, and the disease runs a chronic course with remissions and exacerbations.

e·ryth·ro·ker·a·to·der·mi·a va·ri·a·'bi·lis

[MIM*133200]
a dermatosis characterized by hyperkeratotic plaques of bizarre, geographic configuration, associated with erythrodermic areas that may vary remarkably in size, shape, and position from day to day; hair, nares, and teeth are not affected; onset is usually in the first year of life; autosomal dominant or recessive inheritance, caused by mutation in the connexin gene encoding gap junction protein beta-3 (GJB3) on 1p.

GJB3

A gene on chromosome 1q34 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB3 mutations are linked to non-syndromic deafness or erythrokeratodermia variabilis.

e·ryth·ro·ker·a·to·der·mi·a va·ri·a·bi·lis

(ĕ-rith'rō-ker-ă-tō-dĕr'mē-ă vār-ē-ā'bi-lis)
A dermatosis characterized by hyperkeratotic plaques of bizarre, geographic configuration, associated with erythrodermic areas that may vary remarkably in size, shape, and position from day to day; hair, nails, and teeth are not affected; onset is usually in the first year of life; autosomal dominant or recessive inheritance, caused by mutation in the connexin gene encoding gap junction protein β-3 (GJB3) on 1p.
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