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Uncombable Hair Syndrome with Angel‐Shaped Phalango‐Epiphyseal Dysplasia
Author(s) -
Fritz T. M.,
Trüeb R. M.
Publication year - 2000
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1046/j.1525-1470.2000.01704.x
Subject(s) - ectodermal dysplasia , anatomy , medicine , hair shaft , abnormality , bone canaliculus , hair disease , pathology , dermatology , hair follicle , endocrinology , psychiatry
Abstract: Uncombable hair syndrome or “cheveux incoiffables” is due to a characteristic longitudinal grooving of the hair shaft resulting in a triangular cross section (pili trianguli et canaliculi). In the majority of cases the abnormality is an isolated finding, although uncombable hair‐type changes have been observed in conjunction with other features of ectodermal dysplasia. Ultrastructural studies in the latter have revealed more complex changes of the hair shaft, such as longitudinal grooving in combination with torsion, suggesting classification as a different entity. We describe a 6‐year‐old girl with typical “cheveux incoiffables,” as confirmed by scanning electron microscopy, in combination with angel‐shaped phalango‐epiphyseal dysplasia. The relationship to a previously described syndrome of uncombable hair in combination with retinal dystrophy, juvenile cataract, and brachydactyly, in which both hair and skeletal abnormalities are common, remains to be further elucidated.