[A syndrome: uncombable hair. Observation of 6 members of a family with pili canaliculi, associated with pili torti, progressive alopecia, atopic eczema and hamartomas].
Six members of one family showed the typical clinical picture of uncombable hair (cheveux incoiffables), a syndrome first described by Dupré, Rochiccioli and Bonafé in 1973. In all six cases scanning electron microscopical investigations revealed characteristic morphological hair changes including longitudinal grooves as well as angular or kidney-shaped patterns in cross sections. Genetically the abnormality seems to be of autosomal dominant heredity with incomplete penetrance. In addition to uncombable hair some of our patients showed pili torti, progressive alopecia areata and atopic eczema. Possible relations of this syndrome with other diseases as pili torti, kinky hair disease or hypotrichia congenita are discussed.
D000328:Adult; D000505:Alopecia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003876:Dermatitis, Atopic / Q000235:genetics*; D003937:Diagnosis, Differential; D004485:Eczema / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006197:Hair / Q000648:ultrastructure*; D006201:Hair Diseases / Q000235:genetics*; D006222:Hamartoma / Q000235:genetics*; D006801:Humans; D008854:Microscopy, Electron; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*
Zum Syndrom: Unkämmbare Haare. Beobachtung von sechs Mitgliedern einer Familie mit Pili canaliculi, verbunden mit Pili torti, progredienter Alopezie, atopischem Ekzem und Hamartomen.