title: Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency.
abstract: Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive diffuse non-epidermolytic palmoplantar keratosis caused by mutations in SERPINB7, a member of the serine protease inhibitor superfamily. Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries. In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan. Electronic address: akiharu@a5.keio.jp.
authors.forename: Akiharu
authors.initials: A
authors.lastname: Kubo
mesh_terms: D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009154:Mutation; D015843:Serpins / Q000235:genetics*
chemical_list: C114170:SERPINB7 protein, human; D015843:Serpins