Nakamura Motonobu, Tokura Yoshiki
Department of Dermatology; University of Occupational and Environmental Health; Kitakyusu, Japan.
Dermatoendocrinol. 2009 Jan;1(1):58-9. doi: 10.4161/derm.1.1.6910.
Congenital woolly hair is a disorder with structural defects of the hair shafts. Curled hairs are noticed at birth or soon after birth and often improve with age. Some cases of woolly hairs are associated with systemic or other skin diseases. Congenital woolly hair without any associated disorder is inherited in an autosomal dominant or autosomal recessive manner. Recently, mutations in P2RY5 gene, encoding a G-protein coupled receptor, have been shown to be responsible for autosomal recessive woolly hair. Here, we report the second Japanese case of congenital woolly hair, showing no P2RY5 gene mutation.
先天性卷发症是一种毛干存在结构缺陷的疾病。出生时或出生后不久即可发现卷发，且通常会随着年龄增长而改善。部分卷发症病例与全身性疾病或其他皮肤病有关。无任何相关疾病的先天性卷发症以常染色体显性或常染色体隐性方式遗传。最近研究表明，编码G蛋白偶联受体的P2RY5基因突变是常染色体隐性卷发症的病因。在此，我们报告第二例日本先天性卷发症病例，该病例未发现P2RY5基因突变。
