title: Corneal involvement in epidermolysis bullosa simplex.
abstract: A 17-year-old boy and his mother represent the first reported cases of ocular (corneal) involvement of the simplex form of epidermolysis bullosa. Both had a ring-like configuration of fine bullous lesions in the midperiphery bilaterally at the level of deep corneal epithelium superficial to Bowman's membrane (basal cell layer), with the son manifesting symptoms when some of his bullae ruptured through to the corneal epithelial surface. Nonscarring blistering was present in three generations of this family, suggestive of dominantly inherited epidermolysis bullosa simplex, and was confirmed by electron microscopy of a skin specimen from the son. Thus, ocular involvement has now been observed in all of the major types of epidermolysis bullosa.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003316:Corneal Diseases / Q000209:etiology*; D004820:Epidermolysis Bullosa / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007634:Keratitis / Q000209:etiology; D008297:Male; D010375:Pedigree; D012867:Skin / Q000648:ultrastructure