可变性红斑角化症1家系

发布时间：2018-01-03 10:33

本文关键词：可变性红斑角化症1家系　出处：《中国皮肤性病学杂志》2015年01期 　论文类型：期刊论文

【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。
[Abstract]:Degenerative erythematosis is a rare hereditary dermatosis characterized by erythema erythema and hyperkeratosis of the skin. Current studies suggest that the mutated genes are mainly GJB3 and GJB4.The patient was 22 years old. Erythema of extremities, 18 years of desquamation. Dermatology: large areas of red symmetrical keratosis can be seen on the extensor side of limbs and the back of both feet, with the lower limbs as the weight and the edges clear. Irregular shape. Histopathology of the lesions showed that the keratosis of the epidermis was excessive and the granular layer and spinous layer were thickened. Dermis superficial lymphocytic infiltration. Diagnosis: degenerative erythematokeratosis. The family can be traced back to 5 people with similar symptoms. The current hot mutation genes GJB3 and GJB4 were directly sequenced. No mutation was found.
【作者单位】：西安交通大学医学院第二附属医院皮肤科;西北妇女儿童医院皮肤科;
【基金】：教育部新世纪人才支持计划(NCET-010-0673)
【分类号】：R758.5
【正文快照】： 可变性红斑角化症是以地图状可变性红斑和局限或广泛的皮肤角化过度为主要特征的罕见遗传性皮肤病[1]。大约1个世纪前由荷兰皮肤科医生首次对其形态特征进行描述并命名为可变性红斑角化症[2]。目前国内、外对此病研究的突变基因主要是GJB3和GJB4[3]。笔者对一有家族史可变性红

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