An interesting case of ocular involvement in a case of dystrophic epidermolysis bullosa with conjunctival blistering without eyelid or corneal disease; a case report

Abstract

Epidermolysis bullosa (EB) is an autoimmune mucocutaneous disorder associated with abnormalities of the basement membrane zone of skin and mucous membranes. It is characterized by blister formation in response to minor trauma to the skin and mucous membranes. Here, we present a case of dystrophic epidermolysis bullosa (DEB) in 4years old boy with conjunctival blister formation without eyelid or corneal involvement. He was presented with redness in right eye and active and chronic blistering skin lesions on the elbows, fingers, knees, legs, toes and back of the pinna with scarring in some areas. He had dystrophy of nails and absence of nails in some toes. The oral mucosa was normal and the patient did not have any swallowing complains or other gastrointestinal disorders. A small blister formation was noted in the superior temporal quadrant of conjunctiva in right eye with episcleral congestion. He was diagnosed as a case of autosomal dominant variant of dystrophic epidermolysis bullosa (DDEB), confirmed with biopsy and genetic analysis. So, ophthalmic complications are common in DDEB, but the involvement of ocular structures varies widely among different patients and different subtypes of the disease. Conjunctival blistering without eyelid or corneal disease is one of the most common ophthalmic complications. Protection of the eye from minor trauma such as rubbing may help prevent ocular complications. The major treatment modality is the use of ocular lubricants.