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題名 | Aplasia Cutis Congenita Associated with Cutis Marmorata Telangiectatica Congenita, Atrial Septal Defect, and Epilepsy: A Newly Recognized Syndrome?--A Case Report=先天性皮膚發育不良症,合併先天性微血管擴張性大理石狀皮斑,心房間隔缺損及癲癇:一個新的臨床症候群? |
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作者 | 陳振豐; 陳錫洲; 江建平; | 書刊名 | 中華皮膚科醫學雜誌 |
卷期 | 26:3 2008.09[民97.09] |
頁次 | 頁157-164 |
分類號 | 415.7 |
關鍵詞 | 先天性皮膚發育不良症; 先天性微血管擴張性大理石狀皮斑; 心房間隔缺損; 癲癇; 皮膚缺損; Aplasia cutis congenita; Cutis marmorata telangiectatica congenita; Atrial septal defect; Epilepsy; |
語文 | 英文(English) |
中文摘要 | 先天性皮膚發育不良症是一種罕見的先天性發育異常,臨床上可見在出生時,有局限性或廣泛性的皮膚缺損,且常常深達骨組織或是軟腦膜。病灶最常出現在頭皮上,在文獻報導中,有高達百分之八十四的病患是在頭皮上。它可能單獨存在並未伴隨著其它的先天性異常,也可能是一些異質性疾病的一部分臨床表現。我們在本篇報告一位先天性皮膚發育不良症的病患,同時合併先天性微血管擴張性大理石狀皮斑、心房間隔缺損及癲癇。本案例似乎不符合任何已知的臨床症候群。此外,我們也討論了關於先天性皮膚發育不良症的致病機轉,組織病理學及治療對策。 |
英文摘要 | Aplasia cutis congenita (ACC) is a rare developmental malformation characterized by the absence of skin, and often extends to bone or dura in a localized or widespread area at birth. ACC is seen most commonly on the scalp reported up to eighty-four percent of all cases in the literature. It often manifested as a solitary lesion without other anomalies, but sometimes represented as part of a heterogenous group of disorders. We presented a case of ACC associated with cutis marmorata telangiectatica congenita, secundum atrial septal defect and epilepsy which seem not fit well with any previously recognized clinical syndrome. In addition, emphasis on pathogenesis, histopathology, and treatment strategies were also discussed. |
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