Inherited epidermolysis bullosa

Abstract

Inherited Epidermolysis bullosa (EB) encompasses a group of heritable skin disorders characterized by skin fragility and mechanically induced blister formation. The clinical manifestations show various degrees of severity ranging from life threatening to mild. In children and adults the clinical features may be typical for the EB subtype; however, in neonates the EB subtype can often not be clinically determined. Pathogenic variants in 20 genes have already been described as causative for the various forms of EB. The allelic heterogeneity in EB is very high. The diagnosis is based on a detailed clinical examination, the family history and the molecular genetic analysis. Due to the genetic heterogeneity and the size of the EB genes, next generation sequencing (NGS) multigene panel sequencing is the most effective diagnostic strategy. Genotype-phenotype correlations are partly known, so that genetic diagnostics also play a prognostic role.