congenital erythropoietic porphyria (CEP) [L, congenitus, born with; Gk, erythros, red, poein, to make, porphyros, purple] , a rare autosomal-recessive trait caused by a defect in hemoglobin synthesis in erythrocytes and release of porphyrin from normoblasts in the bone marrow. Symptoms may include mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis. Skin photosensitivity may be extreme, and can lead to blistering, severe scarring, and increased hair growth. Also called Gunther disease.
