Trichorhinophalangeal Syndrome

    January 1995 in “ Dermatology
    R. Böni, R. Huch Böni, D. Tsambaos, M. A. Spycher, Ralph M. Trüeb
    Studysummary This case study suggests that early or significant alopecia in young adults may warrant investigation for underlying congenital conditions like trichorhinophalangeal syndrome.
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    Trichorhinophalangeal syndrome (TRPS) was characterized by a combination of hair, facial, and bone abnormalities with varying expression. A case study of a 20-year-old man with TRPS highlighted marked androgenetic alopecia. Scanning electron microscopy showed the hair had a flattened, elliptoid transverse section, and its mechanical behavior was abnormal, with increased viscosity suggesting decreased intermolecular bridging in the keratin matrix. The study suggested that dermatologists should consider congenital syndromes like TRPS when encountering premature or marked alopecia in young adults, warranting further investigation.
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