報告1例10歲女孩,伴有全身黑色素沈著、毛髮稀鬆、無汗及牙齒琺瑯質發育不良的先天性外胚葉形成異常症。據文獻記載,本症稀少,女病人更少。在臺灣過去未曾有報告,故提出報告並參考有關文獻,作綜合討論。
A 10-year-old girl with anhidrotic type of congenital ectodermtl dysplasia is reported. The cardinal symptoms were hypotrichosis, hyperpigmentation of skin and anhidrosis which was proved by skin biopsy and sweat tests. Chromosome study showed normal pattern. The literature of this disease is briefly reviewed.