RESUMEN
Congenital erythropoietic porphyria is a rare type of porphyria caused by inherited defects of uroporphyrinogen III synthase, an enzyme in the heme biosynthetic pathway. The resultant accumulation of porphyrins causes damage to the skin and erythrocytes, leading to cutaneous photosensitivity and hemolytic anemia. Furthermore, excess porphyrins are also deposited in tissues, bone, and teeth, resulting in a reddish-brown discoloration of the teeth (erythrodontia) which fluoresces under long-wavelength ultraviolet light. In this report, a case of a 9-month old infant girl with recurrent skin eruptions, anemia with hepatosplenomegaly, and erythrodontia is presented. The diagnosis of congenital erythropoietic porphyria was made based on the clinical manifestations and biochemical investigations. The patient was treated successfully with allogenic bone marrow transplantation and is still in remission after almost 3 years posttransplantation.