Ocular lesions in generalized Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa

An infant was given a diagnosis of the Hallopeau-Siemens type recessive dystrophic epidermolysis bullosa shortly after birth, based on clinical, hereditary, and ultrastructural findings. At age 10 years, the boy complained of mild ocular pain. On examination, corneal opacities, erosion and blister in an eyelid, symblepharon, and occlusion of both upper lacrimal puncta were found. He had other findings consistent with the generalized Hallopeau-Siemens type, including dysplastic teeth and fusion of the toes.