A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma

Recently, causative genes for the various types of palmoplantar keratoderma (PPK) have been found, resulting in a need for a genetic classification of PPK [1]. The most common type in the Japanese population is Nagashima-type PPK (NPPK) caused by loss-of-function mutations in SERPINB7, which encodes serpin B7, a member of the serine protease inhibitor superfamily [2]. Serpin B7 is found in the stratum corneum, and its main function is to regulate intercellular protease activity [3]. The clinical features of NPPK include diffuse hyperkeratosis and erythema on the palms and soles, and also on their dorsal aspects, known as transgrediens [4].
Source: Journal of Dermatological Science - Category: Dermatology Authors: Tags: Letter to the Editor Source Type: research