兄弟姐妹中罕见的Kindlers综合征二例报告

Neha Koganti, N. Haneef, F. Razvi, B. Kumar, Nikhat Fatima, Mohammed Zubair, D. Chakraborty
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引用次数: 0

摘要

金德勒综合征是一种罕见的常染色体隐性遗传病。它的特点是创伤性起泡,光敏性,千疮病和粘膜炎症。它的发生是由于染色体20p上的突变。本报告描述了两个兄弟姐妹的起泡和光敏的历史,在儿童时期,后来发展成千皮病与组织病理学影响的皮肤显示千皮病的特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Report of two rare cases of Kindlers syndrome in siblings
Kindler’s syndrome is a rare autosomal recessive disorder. It is charac-terized by trauma-induced blistering, photosensitivity, poikiloderma and mucosal inflammation. It occurs due to mutation on chromosome 20p. This report describes two siblings with history of blistering and photosensitivity in childhood and later developed poikiloderma with histopathology of effected skin showing features of poikiloderma.
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