罕见亚型大疱性表皮松解症3例及家系调查  

Rare subtypes of epidermolysis bullosa: three case reports and their pedigree analysis

作　　者：陈付英 杨伟琴 张蓓蓓[1] 王雨蒙 王建波 姚志荣[1] 李明[1,3] Chen Fuying;Yang Weiqin;Zhang Beibei;Wang Yumeng;Wang Jianbo;Yao Zhirong;Li Ming(Department of Dermatology,Xinhua Hospital,Shanghai Jiaotong University School of Medicine,Institute of Dermatology,Shanghai Jiaotong University School of Medicine,Shanghai 200092,China;Department of Dermatology,Henan Provincial People′s Hospital,Zhengzhou University People′s Hospital,Henan University People′s Hospital,Zhengzhou 450003,China;Department of Dermatology,Children′s Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]上海交通大学医学院附属新华医院皮肤科,上海交通大学医学院皮肤病研究所,上海200092 [2]河南省人民医院,郑州大学人民医院,河南大学人民医院皮肤科,郑州450003 [3]复旦大学附属儿科医院皮肤科,上海201102

出　　处：《中华皮肤科杂志》2022年第8期682-685,共4页Chinese Journal of Dermatology

基　　金：上海市卫计委新百人项目(2018BR22);河南省自然科学基金(202300410386)。

摘　　要：目的报道3例罕见亚型遗传性大疱性表皮松解症(EB)。方法收集先证者及其亲属的临床资料,全外显子测序筛查先证者致病基因,采用Sanger或qPCR测序对患者及其亲属进行突变验证。结果例1表现为背部线状红色瘢痕,患者及有相似临床表现的母亲、无症状女儿均携带COL7A1基因c.4573G>A(p.Gly1525Arg)突变。例2表现为全身网状色素沉着,偶伴手足水疱,携带KRT5基因c.74C>T(p.Pro25Leu)新发突变。例3表现为曝光部位为主的色素异常伴左手不完全并指,先证者携带FERMT1基因2-6号外显子纯合缺失突变,分别来自无症状父母。例1诊断为显性痒疹型营养不良型EB,例2诊断为斑驳色素型单纯型EB,例3诊断为Kindler EB。结论EB临床异质性高,基因检测对于罕见亚型EB的明确诊断非常重要。Objective To report 3 cases of rare subtypes of hereditary epidermolysis bullosa.Methods Clinical data were collected from the probands and their relatives,whole-exome sequencing was performed to screen disease-causing mutations in the probands,and Sanger sequencing or qPCR was conducted to verify the mutations in patients and their relatives.Results Case 1 mainly presented with linear red scars on the back,and the proband,her mother with similar clinical manifestations and her asymptomatic daughter all carried a mutation c.4573G>A(p.Gly1525Arg)in the COL7A1 gene.Case 2 presented with generalized reticular pigmentation all over the body and occasional blisters restricted to the hand and foot,and carried a de novo mutation c.74C>T(p.Pro25Leu)in the KRT5 gene.Case 3 presented with pigmentation abnormalities mainly located at the sun-exposed sites and incomplete syndactyly of the left hand,and carried homozygous deletion mutations in exons 2-6 of the FERMT1 gene,which were inherited from her asymptomatic parents.Case 1 was diagnosed with dominant dystrophic epidermolysis bullosa pruriginosa,case 2 was diagnosed with epidermolysis bullosa simplex with mottled pigmentation,and case 3 was diagnosed with Kindler epidermolysis bullosa.Conclusion The clinical manifestations of epidermolysis bullosa vary greatly,and gene detection is very important for confirmation of diagnosis of its rare types.

关 键 词：大疱性表皮松解 DNA突变分析 斑驳色素型单纯型大疱性表皮松解症 痒疹型营养不良型大疱性表皮松解症 Kindler大疱性表皮松解症 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]