Laryngeal stenosis associated with epidermolysis bullosa simplex

Inherited epidermolysis bullosa is a heterogeneous group of rare genetic diseases characterized by cutaneous or mucosal fragility. The diseases are caused by the mutation of genes encoding the constituent proteins of the dermal-epidermal junction. There are 4 major types of inherited epidermolysis bullosa: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, and Kindler syndrome. A new classification system1 published in 2014 considers the type, mode of inheritance, phenotype, immunofluorescence antigen mapping findings, and mutation(s) present in each patient.