ABSTRACT
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.
Subject(s)
Porphyria, Erythropoietic/diagnosis , Scleritis/diagnosis , Acute Disease , Adolescent , Diagnosis, Differential , Erythrocytes/pathology , Eye Protective Devices , Glucocorticoids/therapeutic use , Humans , Male , Microscopy, Fluorescence , Porphyria, Erythropoietic/therapy , Porphyria, Erythropoietic/urine , Porphyrins/urine , Scleritis/therapy , Scleritis/urineABSTRACT
We examined three patients who had dermatologic and biochemical manifestations of porphyria cutanea tarda and localized thinning or excavation in the sun-exposed interpalpebral sclera, adjacent to the cornea. All three patients had signs of acute scleritis. The acute scleritis responded to oral indomethacin in one patient, but systemic corticosteroids were required to control the inflammation in the other two patients. Phlebotomy, protection from sunlight, and refraining from alcohol played an important part in the treatment of the patients.