title: [Study of hair in type I tricho-rhino-phalangeal syndrome].
abstract: Trichorhinophalangeal syndrome has three characteristic signs: slow-growing hair, pearshaped nose with high philtrum and bradyphalangia with wedge-shaped epiphyses. We report two familial cases of type I trichorhinophalangeal syndrome. Our aim was to better identify the hair anomalies. A 22-year-old boy and his 65-year-old mother had thin sparse hair with recessed fronto-temporo-occipital hair lines. The trichogramme of the occipital region showed 52% dystrophic roots and 48% telogenic roots. Polarized light revealed monochromal hair with clear << finger-end >> rhexis. Electron scan microscopy showed thin, oval, flat or cannulated hairs and folded cuticle cells. A transverse zone in the prerhexis area had no cuticle cells and << finger-end >> fractures. Histological examination showed a normal follicle count. Sebaceous and sudoriparous glands were normal. Other characteristics of trichorhinophalangeal syndrome (facial deformity with pear-shaped nose with high philtrum, clinobrachydactylia of the fingers and toes, and radiologically wedge-shaped epiphyses) were also noted. Caryotypes were normal. We emphasize the importance of folded cuticle cells and clear rhexis leading to << finger-end >> fractures. These anomalies could serve as markers in cases with few suggestive signs.
authors.affiliation: Clinique Dermatologique, Centre Hospitalier Universitaire, Belgrade, Serbie.
authors.forename: B M
authors.initials: BM
authors.lastname: Lalević-Vasić
authors.forename: M M
authors.initials: MM
authors.lastname: Nikolić
authors.forename: D J
authors.initials: DJ
authors.lastname: Polić
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D000368:Aged; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006197:Hair / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000150:complications; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008855:Microscopy, Electron, Scanning; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome
vernacular_title: Etude des cheveux du syndrome trichorhinophalangien type I.