Congenital erythropoietic porphyria

Disease Overview

Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy.[3957]  It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands.[3956][3958] Photosensitivity and infection may cause the loss of fingers and facial features.[3957] Symptoms of CEP range from mild to severe and may include excessive hair growth throughout the body (hypertrichosis), reddish discoloration of the teeth, anemia, and reddish-colored urine.[3959] In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow.[3958][3959] This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms.[3958] Inheritance is autosomal recessive. It is caused by mutations in the UROS gene.[3958] Treatment for CEP may include a bone marrow transplant and hematopoietic stem cell cord blood transplantation.[3956][3957] Blood transfusions or spleen removal may also reduce the amount of porphyrin produced by the bone marrow. Affected people must avoid sunlight exposure.[3957]

Synonyms

• Porphyria, congenital erythropoietic
• CEP
• Günther disease
• Uroporphyrinogen III synthase, deficiency of
• UROS deficiency
• Congenital porphyria