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Progressive symmetric erythrokeratoderma
Other Resources UpToDate PubMed

Progressive symmetric erythrokeratoderma

Contributors: Nasro Isaq, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Progressive symmetric erythrokeratoderma (PSEK), also known as Darier-Gottron syndrome, is a rare genodermatosis that is usually autosomal dominantly inherited, although autosomal recessive inheritance has been reported. Since it was initially described in 1911, fewer than 100 cases have been reported in the literature.

PSEK kindreds have been shown to have underlying varied gene mutations, including in the loricrin gene, the GJB4 gene (the gene affected in erythrokeratodermia variabilis), and the 3-ketodihydrosphingosine reductase (KDSR) gene, among others.

PSEK is characterized by well-demarcated, erythematous, hyperkeratotic plaques that are symmetrically distributed on the extremities and buttocks and that can progress to involve the face, trunk, and abdomen. PSEK usually develops shortly after birth or during infancy. It progresses throughout childhood and stabilizes after puberty. It has the propensity to improve after puberty but sometimes persists into adulthood.

In around half of cases, there is an associated palmoplantar keratoderma. A single kindred manifested pseudoainhum in association. A kindred with KDSR mutations manifested thrombocytopenia in association.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
239063006 – Erythrokeratoderma progressiva of Gottron

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Last Reviewed:12/05/2019
Last Updated:01/23/2022
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Progressive symmetric erythrokeratoderma
A medical illustration showing key findings of Progressive symmetric erythrokeratoderma : Buttocks, Erythema, Face, Thick scaly plaques
Copyright © 2024 VisualDx®. All rights reserved.