A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family

摘要

Madam, Hereditary hypotrichosis simplex (HHS; OMIM 146520/605389) is a rare heritable disorder that is an auto somal dominant form of nonsyndromic alopecia.1 It can be divided into two forms, namely, the scalp-limited and the generalized forms. In the latter, all body hair is affected.2 Patients usually present with normal hair at birth; hair loss starts at approximately 3-6 months of age and progresses with age. The hair shaft characteristically shows no gross abnormality. Patients display normal skin, teeth and nails.