Epidermolysis Bullosa
摘要
Epidermolysis bullosa is a heterogeneous group of inherited blistering disorders characterized by mucocutaneous fragility [1]. The etiology is a mutation in cutaneous structural proteins. There are four types of epidermolysis bullosa classified by depth of blistering, including epidermolysis bullosa simplex (intraepidermal blistering), junctional epidermolysis bullosa (blistering in the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (blistering below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern) [2, 3]. Classification is further divided into 34 subtypes (14 epidermolysis bullosa simplex, 9 junctional epidermolysis bullosa, and 11 dystrophic epidermolysis bullosa) [3, 4]. Each subtype of epidermolysis bullosa has different clinical manifestations and genetic mutations [2]. Classification may be challenging as there are multiple overlapping clinical signs between subtypes [3]. Nail matrix and bed abnormalities in epidermolysis bullosa are frequent and are caused by pathogenic alterations in the dermoepidermal junction [5]. Nail changes are included in the criteria for epidermolysis bullosa severity [6].