Pânzaru Monica-Cristina, Caba Lavinia, Florea Laura, Braha Elena Emanuela, Gorduza Eusebiu Vlad
Department of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.
Department of Nephrology-Internal Medicine, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.
Diagnostics (Basel). 2022 May 27;12(6):1325. doi: 10.3390/diagnostics12061325.
Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of tissue cleavage: simplex, junctional, dystrophic, and Kindler epidermolysis bullosa. They are caused by mutations in genes that encode the proteins that are part of the hemidesmosomes and focal adhesion complex. Some of these disorders can be associated with extracutaneous manifestations, which are sometimes fatal. They are inherited in an autosomal recessive or autosomal dominant manner. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in epidermolysis bullosa, and on the correlation genotype-phenotype.
大疱性表皮松解症是一组罕见的遗传性疾病，其特征是在轻微摩擦或创伤后出现黏膜皮肤脆弱和水疱形成。根据组织分裂的超微结构水平，大疱性表皮松解症主要有四种类型：单纯型、交界型、营养不良型和Kindler大疱性表皮松解症。它们是由编码半桥粒和粘着斑复合物中蛋白质的基因突变引起的。其中一些疾病可能与皮肤外表现有关，有时甚至是致命的。它们以常染色体隐性或常染色体显性方式遗传。本综述重点关注大疱性表皮松解症的异质性现象（基因座、等位基因、突变和临床）以及基因型与表型的相关性。
