GJB2基因突变致儿童角膜炎-鱼鳞病-耳聋综合征一例
China journal of Leprosy and Skin Diseases（2023）
Abstract
患儿,女,6 岁.全身皮肤干燥、粗糙,双手、足、肘膝、臀部呈棕褐色颗粒状皮革样改变,掌跖皮肤增厚,指(趾)甲增厚变形;头发、眉毛稀少、睫毛缺失,听力下降.本例患儿外周血GJB2 基因第 2外显子检测到杂合突变c.148G>A(p.D50N),皮损组织病理检查示鱼鳞病样改变,听力检查:双耳耳聋.符合儿童角膜炎-鱼鳞病-耳聋综合征诊断.
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