Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9
“Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9”, vol. 13, pp. 8089-8093, 2014.
, 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.