LAUSR

Fig 1. A blister on the heel of the child at birth. INTRODUCTION 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 system published in 2014 considers the type, mode of inheritance, phenotype, immunofluorescence antigen mapping findings, and mutation(s) present in each patient. The prognosis depends on the type of epidermolysis bullosa, the extent of lesions, and the potential mucosal damage. Laryngeal lesions are frequently observed in junctional epidermolysis bullosa and dystrophic epidermolysis bullosa but are uncommon in epidermolysis bullosa simplex, except in epidermolysis bullosa simplex with plectin gene deficiency. Laryngeal involvement is associated with a potential risk of airway occlusion and death. Here, we report an atypical case of generalized intermediate epidermolysis bullosa simplex associated with laryngeal stenosis.