Loss‐of‐function mutation in DSG1 underlies focal palmoplantar keratoderma

Abstract

Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous genodermatoses characterized by hyperkeratosis of the palms and soles. Based on the distribution pattern of hyperkeratotic lesions, PPKs are clinically classified into four types: diffuse, striate, focal and punctate. To date, more than 20 genes have been reported to be responsible for PPKs. Although the majority of reported heterozygous loss‐of‐function mutations in the gene encoding desmoglein 1 (DSG1), a key molecule for epidermal adhesion and differentiation, are associated with striate PPK, a very limited number of studies have suggested that dominant DSG1 mutations also cause non‐striate PPK.

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