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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital porphyria


Other Names for this Disease
  • CEP
  • Congenital erythropoietic porphyria
  • Günther disease
  • Porphyria, congenital erythropoietic
  • Uroporphyrinogen III synthase, deficiency of
More Names
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Overview



What is Congenital erythropoietic porphyria (CEP)?


What is Congenital erythropoietic porphyria (CEP)?

Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood.[1]  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.[2][3] Photosensitivity and infection may cause the loss of fingers and facial features.[1] Symptoms of CEP range from mild to severe and may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine.[4] In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow.[3][4] This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms.[3] Treatment for CEP may include activated charcoal or a bone marrow transplant, which can improve the anemia and future blister or scar formations from photosensitivity.[2][1] Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. [1] This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene.[3]
Last updated: 7/21/2011

References
  1. Congenital Erythropoietic Porphyria (CEP). American Porphyria Foundation. 2010 ; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/CEP. Accessed 7/21/2011.
  2. Congenital Erythropoietic Porphyria. British Skin Foundation. http://www.britishskinfoundation.org.uk/SkinInformation/AtoZofSkindisease/CongenitalErythropoieticPorphyria.aspx. Accessed 7/21/2011.
  3. Porphyria, Congenital Erythropoietic. Online Mendelian Inheritance in Man (OMIM). June 2011; http://omim.org/entry/263700. Accessed 7/21/2011.
  4. Hebel JL and Elston DM. Erythropoietic Porphyria. Medscape Reference. January 2009 ; http://emedicine.medscape.com/article/1103274-overview#showall. Accessed 7/21/2011.