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Keratitis, Ichthyosis and Deafness Syndrome:The First Case Report in China

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Author:
No author available
Journal Title:
CHINESE JOURNAL OF DERMATOLOGY
Issue:
7
DOI:
10.3760/j.issn:0412-4030.2004.07.002
Key Word:
鱼鳞病;角膜炎;耳聋综合征

Abstract: 目的报告1例先天性鱼鳞病、感音神经性耳聋、血管化角膜炎患者.方法根据临床及实验室检查结果证实该例患者的诊断.结果患者有典型的面部、耳及鼻部角化性损害,四肢皮肤过度角化,干燥呈皮革样,手足掌过度角化增厚.有典型的睫毛、眉毛脱失,脱发及眼的病变.患者发育正常,智力低下;MRI提示小脑发育不良,第4脑室囊状扩大,显示Dandy Walker征象.结论口服阿维A 3周后头皮损害明显改善,四肢及躯干皮损有改善,阿维A可用于改善患者的过度角化症状.

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