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Abstract: Recessive dystrophic epidermolysis bullosa with aplasia cutis occurring in a male infant is described. The association of these two rare conditions is reviewed. Reports of the concurrence of large areas of congenital absence of skin, particularly on the lower limbs, in patients with several different types of epidermolysis bullosa suggest that areas of congenital absence of skin in these patients are an initial manifestation of the bullous disease rather than a distinctive entity.