Evaluation and treatment of the newborn with epidermolysis bullosa

Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin diseases characterized by increased skin fragility and variable degrees of extracutaneous involvement. The clinical spectrum ranges from localized skin disease to a life-threatening and disabling disease with extensive extracutaneous involvement. All four major types of EB, namely EB simplex, Junctional EB, Dystrophic EB and Kindler syndrome, can present with blistering and erosions at birth and cannot be distinguished clinically in the newborn period. The extensive differential diagnosis of blistering and erosions in the neonate must be considered and common etiologies ruled out. The diagnosis of EB can be confirmed via a skin biopsy for immunoflourescence mapping. This review discusses the four major subtypes of EB and their associated extracutaneous features. The evaluation of a newborn suspected of having EB, including diagnosis and management, is also reviewed.