Abstract
An 8-year-old boy presented with recurrent cutaneous bullae and scar on exposed sites for 8 years. After birth, he suffered from severe photosensitivity and anaemia, and developed recurrent blisters,erosions, ulcers and scar on esposed sites. There was passage of red urine. Family history was negative.Physical examination revealed perioral radial furrow. brown teeth, facial diffuse hyperpigmentation with depigmentation, atrophic scar and hypertrichosis, as well as nasal erosion. Hyperpigmentation, together with blisters, ulcers and scar contracture, was observed on both dorsal hands. Laboratory examination showed the presence of fluorescing erythrocytes, urinary porphyrin, urine bilirubin and urobilinogen. B-mode ultrasonography showed the presence of cholecystolithiasis and splenomegaly. A diagnosis of congenital erythropoietic porphyria was made. The condition was controlled by treatment with oral β-carotene and photoprotective precautions, and remained stable in a 2-year follow-up. Key words: Porphyria, erythropoietic; Case reports
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