A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report.

ABSTRACT: Palmoplantar keratoderma (PPK) represents a heterogeneous group of disorders characterized by hyperkeratosis of the palms and soles. Epidermolytic palmoplantar keratoderma (EPPK) is typically caused by variations in KRT9 or KRT1 genes. However, growing evidence suggests that defects in desmosomal genes, particularly desmoplakin (DSP), may underlie atypical variants. We report a 17-year-old girl with a 10-year history of yellowish, hyperkeratotic plaques with greasy scales on the dorsal hands, soles, and axillae. Histopathology revealed hyperkeratosis, parakeratosis, and acantholysis. Whole-exome sequencing (WES) identified a novel heterozygous frameshift variation in DSP (c.6218_6219dup, p. Ala2074Ter), confirmed by Sanger sequencing. This is the first report of

SUBMITTER: Lin C 

PROVIDER: S-EPMC12832874 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature