Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Congenital Erythropoietic Porphyria Medication

  • Author: Jeanette L Hebel, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Mar 04, 2016
 

Medication Summary

The goals of pharmacotherapy are to reduce morbidity and prevent complications.

Next

Oral photoprotectants

Class Summary

Oral photoprotectants may prevent tissue damage due to light exposure, possibly by forming an internal light screen.

Beta carotene (Lumitene)

 

The exact mechanism of action is not completely elucidated. The patient must become carotenemic before effects are observed. More than one internal light screen may be responsible for effects. This agent may provide a limited level of photoprotection. It causes yellowing of skin (carotenoderma). Any photoprotection afforded increases slowly over a 4- to 6-week period after drug therapy is commenced. When discontinued, skin color and benefit diminish over several weeks.

Previous
 
 
Contributor Information and Disclosures
Author

Jeanette L Hebel, MD Dermatologist, Dermatology Associates of Lancaster; Dermatologist, Department of Dermatology, Lancaster General Hospital

Jeanette L Hebel, MD is a member of the following medical societies: American Academy of Dermatology, American College of Mohs Surgery

Disclosure: Nothing to disclose.

Coauthor(s)

Maureen B Poh-Fitzpatrick, MD Professor Emerita of Dermatology and Special Lecturer, Columbia University College of Physicians and Surgeons

Maureen B Poh-Fitzpatrick, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, New York Dermatological Society

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Christen M Mowad, MD Professor, Department of Dermatology, Geisinger Medical Center

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, Noah Worcester Dermatological Society, Pennsylvania Academy of Dermatology, American Academy of Dermatology, Phi Beta Kappa

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Maureen B Poh-Fitzpatrick, MD Professor Emerita of Dermatology and Special Lecturer, Columbia University College of Physicians and Surgeons

Maureen B Poh-Fitzpatrick, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, New York Dermatological Society

Disclosure: Nothing to disclose.

References
  1. Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. Br J Dermatol. 2012 Oct. 167(4):901-13. [Medline].

  2. Hillenkamp J, Reinhard T, Fritsch C, Kersten A, Böcking A, Sundmacher R. Ocular involvement in congenital erytropoietic porphyria (Günther's disease): cytopathological evaluation of conjunctival and corneal changes. Br J Ophthalmol. 2001 Mar. 85(3):371. [Medline].

  3. Berry AA, Desnick RJ, Astrin KH, Shabbeer J, Lucky AW, Lim HW. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. Arch Dermatol. 2005 Dec. 141(12):1575-9. [Medline].

  4. Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood. 2007 Mar 15. 109(6):2618-21. [Medline].

  5. Egbert BM, LeBoit PE, McCalmont T, Hu CH, Austin C. Caterpillar bodies: distinctive, basement membrane-containing structures in blisters of porphyria. Am J Dermatopathol. 1993 Jun. 15(3):199-202. [Medline].

  6. Wenner C, Neumann NJ, Frank J. [Congenital erythropoietic porphyria : An update]. Hautarzt. 2015 Dec 2. [Medline].

  7. Mathews-Roth MM. Treatment of the cutaneous porphyrias. Clin Dermatol. 1998 Mar-Apr. 16(2):295-8. [Medline].

  8. Katugampola RP, Anstey AV, Finlay AY, et al. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. Br J Dermatol. 2012 Oct. 167(4):888-900. [Medline].

  9. Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002 Jun. 117(4):779-95. [Medline].

  10. Kauffman L, Evans DI, Stevens RF, Weinkove C. Bone-marrow transplantation for congenital erythropoietic porphyria. Lancet. 1991 Jun 22. 337(8756):1510-1. [Medline].

  11. Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C, et al. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. Blood. 1998 Dec 1. 92(11):4053-8. [Medline].

  12. Karakurt N, Tavil B, Azik F, Tunc B, Karakas Z, Uckan-Cetinkaya D. Successful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1. Pediatr Transplant. 2015 Nov. 19 (7):803-5. [Medline].

  13. Harada FA, Shwayder TA, Desnick RJ, Lim HW. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol. 2001 Aug. 45(2):279-82. [Medline].

  14. Poh-Fitzpatrick MB. Clinical features of the porphyrias. Clin Dermatol. 1998 Mar-Apr. 16(2):251-64. [Medline].

  15. Poh-Fitzpatrick MB. The porphyrias. Arndt KA, Robinson JK, Leboit PE, Wintroub BU, eds. Cutaneous Medicine and Surgery: An Integrated Program in Dermatology. Philadelphia, Pa: WB Saunders; 1996. Vol 2: 1753-62.

Previous
Next
 
Clinical classification of porphyrias.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.