可变性红斑角化症1家系  

Report of A Erythrokeratodermia Variabilis Family

作　　者：党延玲 耿松梅[1] 

机构地区：[1]西安交通大学医学院第二附属医院皮肤科,陕西西安710004 [2]西北妇女儿童医院皮肤科,陕西西安710061

出　　处：《中国皮肤性病学杂志》2015年第1期79-80,共2页The Chinese Journal of Dermatovenereology

基　　金：教育部新世纪人才支持计划(NCET-010-0673)

摘　　要：可变性红斑角化症是以可变性红斑和皮肤角化过度为主要特征的罕见遗传性皮肤病。目前的研究认为突变基因主要是GJB3和GJB4。本患者女,22岁,四肢红斑、脱屑18年。皮肤科情况:四肢伸侧及双足背可见大片红色对称性角化性斑片,以双下肢为重,边缘清晰,形状不规则。皮损组织病理示:表皮角化过度,颗粒层及棘层增厚,真皮浅层有淋巴细胞浸润。诊断:可变性红斑角化症。家族中可追溯到有5人有相类似症状。针对目前热点突变基因GJB3和GJB4进行直接测序,未发现突变。Erythrokeratodermia variabilis is a rare genodermatosis with migrating erythema and hyperkeratosis as the main characteristics. The present study consider that the GJB3 and GJB4 is mainly mutation. A 22-year-old girl presented with limbs erythema and desquamation for 18 years. Physical examination showed：large irregular well-defined symmetrical hyperkeratosis erythema on limbs and feet,especially on lower extremities. Biopsy revealed epidermal hyperkeratosis with, granular layer and stratum spinosum thickening,lymphocyte infiltrated dermis. A diagnosis of erythrokeratoderma variabilis was made. The present hot spot mutations GJB3 and GJB4 was sequenced directly and no mutations was found.

关 键 词：可变性红斑角化症 家系 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]