26285 A rare case of congenital erythropoietic porphyria presenting with pulse oximeter–induced blisters

Abstract

Introduction: Congenital erythropoietic porphyria (CEP) is an uncommon disease. It is caused by mutations in the gene encoding the enzyme uroporphyrinogen III synthase (UROS), which lead to accumulation of porphyrins in different tissues. Main manifestations are photosensitivity, hemolytic anemia, bone resorption, ocular impairment, plus red coloration of urine and teeth. The only known curative treatment is bone marrow transplantation.