UROS and Splenomegaly: Congenital erythropoietic porphyria (CEP) is an autosomal recessive disease caused by mutations in the uroporphyrinogen III synthase (UROS) gene, with the consequent nonenzymatic conversion of hydroxymethylbilane to isomer I porphyrin metabolites, which accumulate in red blood cells and their late precursors, resulting in ineffective erythropoiesis, hemolysis and splenomegaly and, when disseminated into the tissues and skin, severe photosensitivity.