3例先天性大疱性表皮松解症伴皮肤缺损的临床及遗传学分析  

Clinical and genetic analysis of three cases of congenital epidermolysis bullosa with congenital absence of skin

作　　者：付郁强 程亚颖[2] 王鑫[2] FU Yuqiang;CHENG Yaying;WANG Xin(Graduate School,North China University of Science and Technology,Tangshan,Hebei 063210,China;Department of Pediatrics,Hebei General Hospital,Shijiazhuang,Hebei 050051,China)

机构地区：[1]华北理工大学研究生学院,河北唐山063210 [2]河北省人民医院儿科,石家庄050051

出　　处：《重庆医学》2023年第9期1303-1308,共6页Chongqing medicine

基　　金：河北省卫生健康委员会医学科学研究课题计划(20190296)。

摘　　要：目的探讨先天性大疱性表皮松解症(EB)伴先天性皮肤缺损(CAS)的临床特点及基因遗传学特征,为临床诊治提供参考。方法回顾性分析河北省人民医院确诊的3例EB伴CAS患儿的临床特点及基因学特征,并结合该病的研究进展进行文献复习。结果3例患儿出生即出现大片皮肤破损和水疱,入院后水疱及血疱反复出现,破溃可见糜烂面。其中2例患儿行基因检测均发现编码Ⅶ型胶原蛋白的基因(COL7A1)存在突变。病例1存在c.4439G>A(p.G1480D)及c.2587+1_2587+2insCG(splicing)复合杂合突变,变异分别来自其父母。病例2存在c.8569G>T(p.E2857X)及c.4820G>T(p.G1607V)复合杂合突变,变异分别来自其父母。其中c.4439G>A、c.2587+1_2587+2insCG、c.4820G>T突变为首次报道。3例患儿均确诊为EB伴CAS。经皮肤黏膜护理、预防感染等治疗后创面缩小、逐渐愈合,患儿均好转出院。结论本文中病例扩大了EB伴CAS患儿的基因变异谱。Objective To explore the clinical characteristics and genetic characteristics of congenital epidermolysis bullosa(EB)with congenital absence of skin(CAS),and to provide reference for clinical diagnosis and treatment.Methods The clinical and genetic characteristics of the three cases of EB with CAS diagnosed in Hebei General Hospital were analyzed retrospectively,and the literature was reviewed based on with the research progress of the disease.Results The three newborns were born with large skin damage and blisters.After admission,the blisters and blood blisters appeared repeatedly,the erosion surface was seen in ulcers.Two of them were found to have mutations in the gene encoding collagenⅦ(COL7A1)by genetic testing.In case one,there were c.4439G>A(p.G1480D)and c.2587+1_2587+2insCG(splicing)heterozygous mutations,which came from her father and mother,respectively.In case two,there were c.8569G>T(p.E2857X)and c.4820G>T(p.G1607V)heterozygous mutations,and the mutations came from his father and mother,respectively.Among them,c.4439G>A,c.2587+1_2587+2insCG and c.4820G>T mutations were reported for the first time.All the three cases were diagnosed as EB combined with CAS.After skin and mucosa care,prevention of infection and other treatments,the wound was reduced and gradually healed,and all the newborns were improved and discharged.Conclusion Those cases expand the spectrum of genetic variation in EB with CAS.

关 键 词：先天性 大疱性表皮松解症 皮肤缺损 COL7A1基因 基因检测 突变 

分 类 号：R751[医药卫生—皮肤病学与性病学]