Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family

Abstract

Zhiliang Li,1,* Qiao Liu,2,* Aimin Wang,2 Hongsheng Wang,1 Chengrang Li1 1Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, People's Republic of China; 2Hainan Provincial Hospital of Skin Disease, Hainan, People's Republic of China  *These authors contributed equally to this workEpidermolytic ichthyosis is a rare genetic disorder characterized by diffuse erythroderma from the time of birth with subsequent appearance of thick, brown scales and occasional blister formation. Mutation has been found in keratin 1 (K1) and keratin 10 (K10) genes.1 Epidermolytic hyperkeratosis (EHK) is mostly inherited in a dominant mode. We report a Chinese family of EHK sufferers and their mutation findings.