Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders

Abstract

The heritable forms of epidermolysis bullosa (EB), a phenotypically heterogeneous group of skin fragility disorders, is currently associated with mutations in as many as 21 distinct genes. EB is primarily a disorder affecting the epithelial layers of skin and mucous membranes, without extracutaneous manifestations, and thus is nonsyndromic. However, recent demonstrations of skin blistering in multisystem disorders with single gene defects highlight the concept of syndromic EB. Here, we review the phenotypic and genotypic features of syndromic forms of EB to delineate the concept of syndromic versus nonsyndromic skin fragility disorders.