Pili torti with congenital deafness (Bjornstad's syndrome)--report of three cases in one family, suggesting autosomal dominant transmission

Abstract

Pili torti is a rare hair shaft abnormality in which the hair is flattened and intervals twisted at irregular through 180 degrees about its axis. Pili torti may occur as a congenital defect or as an acquired disorder (secondary to patchy alopecia from a variety of causes). When it is congenital, it may be isolated and determined by an autosomal dominant gene or associated with various rare syndromes, including ectodermal dysplasias, neurological defects and metabolic disturbances. The association of neurosensory hearing loss and pili torti has been recognized as Bjornstad's syndrome since 1965. As far as we know, only 15 cases of this syndrome have been reported. We describe here three cases of Bjornstad's syndrome in one family.