Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone
Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone
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DOI：
10.1016/j.matbio.2018.04.001
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发表时间：
2018-10-01
期刊：
影响因子：
6.9
通讯作者：
Uitto, Jouni
中科院分区：
文献类型：
--
作者：
Has, Cristina;Nystroem, Alexander;Uitto, Jouni
大疱性表皮病是一组遗传性皮肤脆性疾病，以皮肤和粘膜的水疱、糜烂和慢性溃疡为特征。在某些形式中，水疱表型与广泛的毁损性瘢痕形成和侵袭性鳞状细胞癌的发展相关。皮肤表现可能与眼、胃肠道和膀胱尿路的皮外表现有关。表型异质性反映了在皮肤基底膜区表达的多达20种不同基因中存在突变，并且突变的类型和组合及其在mRNA和蛋白质水平上的后果有助于不同亚型EB中遇到的严重程度谱。本综述强调EB的分子遗传学的基础上突变的基因编码的VII型和XVII型胶原蛋白以及层粘连蛋白-332。在细胞外基质的这些蛋白质组分中鉴定的突变证明了它们在为皮肤基底膜区提供稳定性方面的至关重要性，并对遗传性和获得性疾病具有影响。(C)2018爱思唯尔B. V.保留所有权利。
Epidermolysis bullosa (EB), a group of heritable skin fragility disorders, is characterized by blistering, erosions and chronic ulcers in the skin and mucous membranes. In some forms, the blistering phenotype is associated with extensive mutilating scarring and development of aggressive squamous cell carcinomas. The skin findings can be associated with extracutaneous manifestations in the ocular as well as gastrointestinal and vesico-urinary tracts. The phenotypic heterogeneity reflects the presence of mutations in as many as 20 different genes expressed in the cutaneous basement membrane zone, and the types and combinations of the mutations and their consequences at the mRNA and protein levels contribute to the spectrum of severity encountered in different subtypes of EB. This overview highlights the molecular genetics of EB based on mutations in the genes encoding type VII and XVII collagens as well as laminin-332. The mutations identified in these protein components of the extracellular matrix attest to their critical importance in providing stability to the cutaneous basement membrane zone, with implications for heritable and acquired diseases. (C) 2018 Elsevier B.V. All rights reserved.