Siemens大疱性鱼鳞病1例临床特征及基因突变分析  

Analysis of Clinical Characteristics and Gene Mutation in a Case of Ichthyosis Bullosa of Siemens

作　　者：毛雨 袁梦瑾 张江安[1] 孙莉婷 孙钰桢 胡媛 张涵茵 于建斌[1] MAO Yu;YUAN Mengjin;ZHANG Jiang′an;SUN Liting;SUN Yuzhen;HU Yuan;ZHANG Hanyin;YU Jianbin(Department of Dermatology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Institute of Dermatology,Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042,China)

机构地区：[1]郑州大学第一附属医院皮肤科,河南郑州450052 [2]中国医学科学院北京协和医学院皮肤病研究所,江苏南京210042

出　　处：《中国皮肤性病学杂志》2024年第5期503-508,共6页The Chinese Journal of Dermatovenereology

摘　　要：目的 报告1例散发的Siemens大疱性鱼鳞病的临床特征及KRT2基因突变情况。方法 收集患者临床资料,并对其进行皮损组织病理、直接免疫荧光等检查;采集患者及其父母外周血进行基因测序,选取100例无亲缘关系的健康人作为对照,分析可疑致病位点。结果 患者自幼发病,皮损表现为躯干及四肢角化过度伴鳞屑,脐周、双膝关节及踝关节处有深棕色波纹状角化,局部可见典型“蜕皮”现象,周围呈领圈状脱屑,不伴掌跖角化。下腹部可见簇集性小脓疱。腹部脓疱行组织病理示:表皮网篮状角化过度,角质层下水疱形成,内含中性粒细胞及渗出物。脓疱的细菌培养呈阴性。直接免疫荧光示:IgA、IgG、C3均阴性。患者KRT2基因存在杂合错义突变c.1459G>A(p.E487K),而患者父母此位点未发现突变。结论 该患者诊断为Siemens大疱性鱼鳞病,其临床表型由KRT2基因c.1459G>A(p.E487K)杂合突变所致。Objective To report the clinical features and KRT2 gene mutation in a sporadic case of ichthyosis bullosa of Siemens.Methods Clinical data were collected from the patientand relevant laboratory tests were performed including histopathology and direct immunofluorescence.Peripheral blood samples were obtained from the patient and his parents for gene sequencing,and one hundred unrelated healthy people were as controls.Results The disease developed in the childhood of the patient,and the skin lesions were characterized by hyperkeratosis with scaling on the trunk and extremities,dark brown rippled keratosis of the skin on the umbilicus,both knees and ankles,and focal areas of peeling(mauserung phenomenon) could be observed,surrounded by collarette-like scaling,without palmoplantar keratosis.Clustered small pustuleswere observed in the lower abdomen.A biopsy of the abdominal pustule demonstrated epidermal basketweave-hyperkeratosis,and subcorneal vesicle containing neutrophils and exudate.The bacterial culture of pustules was negative.Direct immunofluorescence showed that IgA,IgG,and C3 were negative.The patient had a heterozygous missense mutation c.1459G>A(p.E487K) in the KRT2 gene,while no mutation was found in the patient′s parents.Conclusion The patient was diagnosed with ichthyosis bullosa of Siemens,whose clinical phenotype was caused by a heterozygous mutation in the KRT2 gene c.1459G>A(p.E487K).

关 键 词：Siemens大疱性鱼鳞病 表皮松解性角化过度 角蛋白 KRT2基因 基因突变 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]