Progressive symmetric erythrokeratoderma in Adult
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Synopsis
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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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Erythrokeratodermia variabilis (EKV) – plaques of EKV are migratory
- Pityriasis rubra pilaris
- Psoriasis
- Erythrokeratolysis hiemalis
- KID syndrome
- Olmsted syndrome
- Other palmoplantar keratodermas
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References
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Last Reviewed:12/05/2019
Last Updated:01/23/2022
Last Updated:01/23/2022
Progressive symmetric erythrokeratoderma in Adult