摘要
毛髮缺硫性失養症為一少見的常染色體隱性毛髮疾病。此病為一綜合症，且常合併神經外胚層的異常及光敏感性。病患的毛髮在光學顯微鏡下呈現裂髮症、結節性脆髮症，在掃描電子顯微鏡下可見毛髮的外皮段損或消失，在偏光鏡顯微鏡下可見髮幹出現明暗交替的區域。患者頭髮硫的含量均較正常人低。吾人報告一具有毛髮變化及發育遲緩的病例。
關鍵字
無資料並列摘要
Trichothiodystrophy is a rare hair disorder inherited in an autosomal recessive pattern. It is a dis- ease complex which is usually associated with other neuroectodermal abnormalities and photosensitive- ity. The hair shows trichoschisis, trichorrhexis nodosa under light microscopy, absent or damaged hair cuticlesunder scanning electron microscopy, and alternating light and dark bands under polarized microscopy. The sulfur content of the hair is low . We report a patient with hair changes and develop- mental delay.