LAUSR

Introduction Autosomal recessive dystrophic epidermolysis bullosa (DEB) (MIM 222600) is a very rare skin fragility disease characterized by blistering and erosion of the skin. In addition, patients present corneal abrasion, enamel hypoplasia, joint contractures, alopecia, and dystrophic nails (Kang et al., 2009). DEB occurs in all ethnic groups, and the prevalence of recessive dystrophic epidermolysis bullosa (RDEB) is ∼36/100 0000 (Fine, 2016). The carrier frequency of RDEB in the USA has been calculated as one in 370 (Pfendner et al., 2001). This syndrome is characterized by mutation(s) of COL7A1 gene on chromosome 3p21.31. The COL7A1 gene encodes the α-1 chain of collagen type VII, and COL7A1 is expressed in keratinocytes, especially basal keratinocytes of the epidermis. Collagen VII is the primary component of anchoring fibrils, which in the skin are localized below the basal lamina at the dermal–epidermal junction (Galehdari et al., 2010).