Mutation E402K of the hHb6 in a Chinese Han family with monilethrix

Auteur(s) : Shi-de Zhang, Jin Meng, Jing-jun Zhao, Wei Tian Department of Dermatology, Union Hospital of Fujian Medical University, Fuzhou, Fujian, China The proband was a 6-year-old girl who presented with short, weathered, and thinly implanted hair and pronounced follicular hyperkeratosis over the entire scalp. At birth her scalp hair looked normal. But after about one month her hair became shorter and shorter and some small papules emerged. Her nails and teeth were normal, and she [...]