毛发-鼻-指(趾)综合征

Tricho-rhino-phalangeal syndrome

报告1例毛发-鼻-指(趾)综合征。患者男,24岁。主要临床表现为毛发稀疏,毳毛缺如,鼻翼肥大呈梨形,指、趾骨异常,指、趾甲薄,无智力发育异常。手、足X线片显示指、趾骨骨骺呈锥形改变。皮肤组织病理检查示:皮脂腺、汗腺发育正常,可见毛囊结构,镜下毛发色泽淡,顶端如锥状。符合毛发-鼻-指(趾)综合征。

A case of tricho-rhino-phalangcal syndrome is reported.The 24-year-old male patient presented with sparse scalp hair,no villus hair on the body surface,pear-shaped broad nose,distorted brachydactylia,thin nails and no mental retardation.Radiological features showed cone-shaped epiphyses.Biopsy showed sebaceous and sweat glands were monnal and hair follicle structure was identified in scrial sections.Hair was fine and with tapered endd under light mircroscopy.