Department of Pediatric Dentistry, School of Dentistry, Brauer Hall # 7450, The University of North Carolina, Chapel Hill, NC 27599-7450, USA.
Dermatol Clin. 2010 Jan;28(1):159-64. doi: 10.1016/j.det.2009.10.022.
The craniofacial and oral manifestations of the different epidermolysis bullosa (EB) types vary markedly in character and severity depending largely on the EB type. The tissues affected and the phenotypes displayed are closely related to the specific abnormal or absent proteins resulting from the causative genetic mutations for these disorders. In this article, the major oral manifestations are reviewed for different EB subtypes and are related to the causative genetic mutations and gene expression.
不同类型的大疱性表皮松解症（EB）的头面部和口腔表现的特征和严重程度差异显著，在很大程度上取决于 EB 类型。受影响的组织和表现出的表型与这些疾病的致病基因突变导致的特定异常或缺失蛋白密切相关。本文综述了不同 EB 亚型的主要口腔表现，并与致病基因突变和基因表达相关。
