中华皮肤科杂志 ›› 2022, Vol. 55 ›› Issue (8): 682-685.doi: 10.35541/cjd.20210479

• 研究报道 • 上一篇    下一篇

罕见亚型大疱性表皮松解症3例及家系调查

陈付英1    杨伟琴1    张蓓蓓1    王雨蒙1    王建波2    姚志荣1    李明1，3   

  1. 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
  • 收稿日期:2021-06-28 修回日期:2022-01-12 发布日期:2022-08-02
  • 通讯作者: 李明 E-mail:liming01@xinhuamed.com.cn
  • 基金资助:
    上海市卫计委新百人项目（2018BR22）；河南省自然科学基金（202300410386）

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

Chen Fuying1, Yang Weiqin1, Zhang Beibei1, Wang Yumeng1, Wang Jianbo2, Yao Zhirong1, Li Ming1,3#br#   

  1. 1Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China; 2Department of Dermatology, Henan Provincial People′s Hospital, Zhengzhou University People′s Hospital, Henan University People′s Hospital, Zhengzhou 450003, China; 3Department of Dermatology, Children′s Hospital of Fudan University, Shanghai 201102, China
  • Received:2021-06-28 Revised:2022-01-12 Published:2022-08-02
  • Contact: Li Ming E-mail:liming01@xinhuamed.com.cn
  • Supported by:
    Shanghai Health System Excellent Academic Leader Training Project （2018BR22）; Natural Science Foundation of Henan Province of China （202300410386）

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摘要： 【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。

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

Abstract: 【Abstract】 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.

Key words: Epidermolysis bullosa, DNA mutational analysis, Epidermolysis bullosa simplex with mottled pigmentation, Dystrophic epidermolysis bullosa pruriginosa, Kindler epidermolysis bullosa