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Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9

Author(s): Y. Guo1, M. Shi2, Z.P. Tan3 and X.L. Shi1

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the genetic basis of EPPK; however, genetic anticipation has not yet been reported. We described a four-generation family with EPPK and identified a p.R163W mutation of KRT9.