Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7

Nagashima-type palmoplantar keratosis (NPPK, MIM 615598) is an autosomal recessive disorder, first described by Nagashima [1-4]. It is characterized by diffuse mild palmoplantar hyperkeratosis that extends onto the dorsum of hands and feet and the Achilles tendon areas. Elbows and knees are also involved and palmoplantar hyperhidrosis is common. Recently, causative loss-of-function mutations in the SERPINB7 gene were identified [4-6]. Here we report a case of a patient with compound heterozygous [...]