Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation

Atrichia with papular lesions is a rare form of hair loss with an autosomal recessive mode of inheritance characterized by the absence of normal hair follicles and formation of intradermal cystic structures. Mutations in the hairless (HR) gene in both mice and human have been implicated in the development of this phenotype. HR codes for a putative transcription factor containing a single zinc-finger DNA binding domain, with restricted expression in the brain and the skin. Here, we report the first case of atrichia with papular lesions in a Taiwanese family with no detectable mutation in HR.