Congenital porphyria with necrotizing scleritis in a 9-year-old child

Abstract

Porphyria is a rare metabolic disorder that is characterized by the accumulation of photosensitive, toxic intermediates of the heme metabolic pathway in various organs of the body including the skin, eye and neural tissue. Porphyria as a potential cause for bilateral necrotizing scleritis in children is very infrequently emphasized in literature, probably due to the relatively rare occurrence and lack of well-documented cases. A case of a 9-year-old child with congenital porphyria who had developed necrotizing scleral ulceration in both eyes in addition to severe cutaneous hypersensitivity and facial disfigurement is herein presented.