title: Congenital woolly hair without P2RY5 mutation.
abstract: 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.
authors.affiliation: Department of Dermatology; University of Occupational and Environmental Health; Kitakyusu, Japan.
authors.forename: Motonobu
authors.initials: M
authors.lastname: Nakamura
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Tokura