Congenital erythropoietic porphyria

Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-re cessive disorders of the porphyrin metabolism caused by the homozygous defe ct of uroporphyrinogen III cosynthase, High amounts of uroporphyrin I accum ulate in all cells and tissues, reflected by an increased erythrocyte porph yrin concentration and excretion of high porphyrin amounts in urine and fec es, Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. S plenomegaly and hemolytic anemia are typical internal symptoms, Skeletal ch anges such as osteolysis and calcifications are frequent, Up to date 130 ca ses of CEP have been published, Splenectomy and erythrocyte transfusions sh owed some beneficial effect, Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1, The best therapy is the avoid ance of sunlight, We give a report on our latest cases of CEP.