Böni R, Böni R H, Tsambaos D, Spycher M A, Trüeb R M
Department of Dermatology, University of Zürich, Switzerland.
Dermatology. 1995;190(2):152-5. doi: 10.1159/000246667.
Trichorhinophalangeal syndrome (TRPS) comprises a distinctive combination of hair, facial and bony abnormalities with variable expression. A 20-year-old man with TRPS was seen because of marked androgenetic alopecia. Scanning electron-microscopic studies of the hair revealed flattened hair with an elliptoid transverse section pattern. Mechanical behavior of the hair was abnormal with a significant increase in the viscous parameter, indicating a decreased intermolecular bridging within the keratin matrix. The dermatologist confronted with premature or marked alopecia in young adults should always consider the possibility of an underlying congenital syndrome involving the hair and prompt further investigation.
毛发鼻指综合征（TRPS）包括毛发、面部和骨骼异常的独特组合，且表现多样。一名患有TRPS的20岁男性因明显的雄激素性脱发前来就诊。对其毛发进行扫描电子显微镜研究发现，毛发扁平，横切面呈椭圆形。毛发的力学行为异常，粘性参数显著增加，表明角蛋白基质内分子间桥接减少。面对年轻成人过早或明显脱发的皮肤科医生应始终考虑存在涉及毛发的潜在先天性综合征的可能性，并迅速进行进一步检查。
