HAIR STUDY OF TRICHORHINOPHALANGEAL SYNDR OME TYPE-I

Trichorhinophalangeal syndrome has three characteristic signs: slow-gr owing hair, pearshaped nose with high philtrum and bradyphalangia with wedge-shaped epiphyses. We report two familial cases of type I tricho rhinophalangeal syndrome. Our aim was to better identify the hair anom alies. A 22-year-old boy and his 65-year-old mother had thin sparse ha ir with recessed fronto-temporo-occipital hair lines. The trichogramme of the occipital region showed 52 % dystrophic roots and 48 % telogen ic roots. Polarized light revealed monochromal hair with clear ''finge r-end'' rhexis. Electron scan microscopy showed thin, oval, flat or ca nnulated hairs and folded cuticle cells. A transverse zone in the prer hexis area had no cuticle cells and ''finger-end'' fractures. Histolog ical examination showed a normal follicle count. Sebaceous and sudorip arous glands were normal. Other characteristics of trichorhinophalange al syndrome (facial deformity with pear-shaped nose with high philtrum , clinobrachydactylia of the fingers and toes, and radiologically wedg e-shaped epiphyses) were also noted. Caryotypes were normal. We emphas ize the importance of folded cuticle cells and clear rhexis leading to ''finger-end'' fractures. These anomalies could serve as markers in c ases with few suggestive signs.