A novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis

Palmoplantar keratoderma (PPK) is a disorder of keratinization. Here we present an unusual case of PPK in association with hyperhidrosis and digital clubbing. This patient had a novel homozygous mutation in the HPGD gene, a mutation not previously reported in the pathogenesis of this phenotype.