Acute scleritis as a manifestation of congenital erythropoietic porphyria

PURPOSE: To report a case of congenital erythropoietic porphyria that presented as acute scleritis over a bilateral scleromalacia perforans in the interpalpebral fissure. METHODS: An 18-year-old man presented with painful red eye, a history of photophobia, and passing highly colored urine since childhood. Dermatological and biochemical evaluations were done. RESULTS: The patient had normal vision in both eyes with bilateral scleromalacia perforans. The right eye showed painful, nodular scleritis. Dermatological examination revealed multiple, vesciculobullous cutaneous lesions with atrophy and pseudoscleroderma changes, hypertrichosis, and bluish discoloration of teeth. Immunofluorescent microscopy of fresh peripheral smear showed brilliant red fluorescence of erythrocytes. Spectroscopic analysis of urine revealed excretion of porphyrin, thus confirming a diagnosis of congenital erythropoietic porphyria. The patient's condition improved with local and systemic steroid therapy along with general photoprotective measures for the exposed parts of the body. CONCLUSION: Acute scleritis could be the presenting feature in a rare case of congenital erythropoietic porphyria, warranting systemic evaluation.