Premium
Pili torti with congenital deafness (Bjornstad's syndrome)— report of three cases in one family, suggesting autosomal dominant transmission
Author(s) -
PETIT A.,
DONTENWILLE M.M.,
BLANCHET BARDON C.,
CIVATTE J.
Publication year - 1993
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.1993.tb00983.x
Subject(s) - cabello , abnormality , hair disease , medicine , dermatology , hearing loss , hair shaft , pathology , genetics , biology , anatomy , audiology , endocrinology , hair follicle , scalp , psychiatry
Summary Pili torti is a rare hair shaft abnormality in which the hair is flattened and intervals twisted at irregular through 180° 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 detects and metabolic disturbances. 1,2 The association of neurosensory hearing loss and pili torti has been recognized as Bjornstad's syndrome since 1965. 3 As far as we know, only 15 cases of this syndrome have been reported. 4,5 We describe here three cases of Bjornstad's syndrome in one family.