無汗型外胚層發育不良是以無汗,毛髮缺乏,牙齒發育不全或無牙齒及特殊的面部輪廓爲特徵的症候羣。我們報告一位5歲四個月的男孩,經皮膚切片檢查沒有汗線,頭髮稀疏細嫩,只有右上前臼齒處有一顆牙齒之外,X光檢查證明沒有其他牙齒之形成,又有間歇性的高熱,意識不清及四肢僵硬和顫搐,在住院第23日死亡。因缺乏發汗能力所致的高熱會導致永久性的腦部損害,所以早期查出此種病症是非常重要的。
A five years and four months old boy had total absence of the sweat glands, hypotrichosis, hypodontia, intermittent high fever with loss of consciousness, and twitching and rigidity of the extremities. He expired on the twenty-third day of hospitalization. Early recognition of the disease in very important, since hyperthermia secondary to diminished or absent sweating capacity may result in permanent brain damage or even death.