TRPV3 and epidermolytic palmoplantar keratoderma, 1: Gain-of-function mutations in the Trpv3 gene, including the G573S point mutation, cause a form of palmoplantar keratoderma known as Olmsted syndrome, an autosomal dominant genodermatoses phenotypically characterized by palmoplantar keratoderma and periorificial keratotic plaques.