Mariath Luiza Monteavaro, Santin Juliana Tosetto, Schuler-Faccini Lavínia, Kiszewski Ana Elisa
Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Dermatology Service, Santa Casa de Misericórdia de Porto Alegre/Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
An Bras Dermatol. 2020 Sep-Oct;95(5):551-569. doi: 10.1016/j.abd.2020.05.001. Epub 2020 Jul 8.
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.
遗传性大疱性表皮松解症是一组遗传性疾病，其特征是皮肤和黏膜在受到极小创伤后出现皮肤脆弱和水疱。大疱性表皮松解症在临床和遗传方面具有很大的异质性，根据水疱发生的皮肤层次可分为四种主要类型：单纯型大疱性表皮松解症（表皮内）、交界型大疱性表皮松解症（基底膜透明层内）、营养不良型大疱性表皮松解症（基底膜以下）和Kindler大疱性表皮松解症（混合性皮肤分裂模式）。此外，大疱性表皮松解症还可细分为几个亚型，这些亚型考虑了临床特征、水疱分布以及皮肤和皮肤外体征的严重程度。至少16个编码对皮肤层完整性和黏附至关重要的蛋白质的基因中的致病性变异已与大疱性表皮松解症的不同亚型相关联。该疾病显著的异质性，包括具有广泛严重程度谱的表型和许多致病基因，阻碍了其分类和诊断。因此，皮肤科医生和遗传学家会定期审查和更新分类标准。本综述旨在更新遗传性大疱性表皮松解症的最新研究状况，特别关注相关的临床和遗传方面，并呈现2020年发表的最新重新分类共识中的数据。
