罕见亚型大疱性表皮松解症3例及家系调查

【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。

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

【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.