Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review

Abstract

Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by trauma-induced blister formation. Four major EB types are distinguished based on the level of blister formation within the skin: EB simplex (EBS), junctional EB, dystrophic EB, and Kindler syndrome¹. EBS represents the most common type and is defined by intraepidermal cleavage.

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