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題 名 | Anhidrotic Ectodermal Dysplasia--Report of Two Brothers with One Having Unusual Skin Manifestation=無汗型外胚層發育不全--報告兩兄弟病例及不尋常的皮膚表現 |
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作 者 | 胡倩婷; 江致德; 曾興隆; 郭承統; | 書刊名 | 中華皮膚科醫學雜誌 |
卷 期 | 16:3 1998.09[民87.09] |
頁 次 | 頁164-170 |
分類號 | 415.659 |
關鍵詞 | 無汗型外胚層發育不全; 性聯遺傳疾病; AED; Skin; Anhidrotic ectodermal dysplasia; |
語 文 | 英文(English) |
中文摘要 | 無汗型外胚層發育不全(AED)是一種性聯遺傳疾病,其中包括各種不同的症狀, 但主要為無汗、毛髮稀少及牙齒發育不全,病人多具獨特的面貌。我們遇到一對兄弟屬 AED 的典型病例,特徵包括中臉內凹、前額突出、鞍狀鼻、突唇及牙齒發育異常,他們曾在嬰兒 期多次發高燒,且無流汗的情形,其兄之頭皮、下半身、手掌及腳掌更找到溼疹性及角化性 病灶,此溼疹與一般 AED 合併的異位性皮膚炎不同,且於文獻報告中屬罕見。 |
英文摘要 | Anhidrotic ectodermal dysplasia (AED) is an X-linked genetic disorder that describes a heterogeneous group of conditions with a major triad of anhidrosis, hypotrichosis, and hypodontia. The affected individuals usually have distinctive facies. We encountered two brothers with typical features of AED, including central depressed face, frontal bossing, saddle nose, protruding lips, and dental abnormalities. They experienced episodes of high fever in infancy and never had sweating. The elder brother developed eczematous and keratotic lesions on the scalp, lower trunk, palms, and soles. His eczematous eruptions differed from atopic dermatitis usually encountered in AED and was rarely mentioned in the literature before. |
本系統中英文摘要資訊取自各篇刊載內容。