Congenital Erythropoietic Porphyria Medication

  • Author: Jeanette L Hebel, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jul 22, 2011
 

Medication Summary

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

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Oral photoprotectants

Class Summary

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

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Vitamin A (Lumitene)

 

Exact mechanism of action not completely elucidated. Patient must be carotenemic before effects are observed. More than 1 internal light screen may be responsible for effects. May provide a limited level of photoprotection. Causes yellowing of skin (eg, carotenoderma). Photoprotection increases slowly over 4-6 weeks after treatment begins. When discontinued, skin color and benefits diminish over several weeks.

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Contributor Information and Disclosures
Author

Jeanette L Hebel, MD  Department of Dermatology, Lancaster General Hospital

Jeanette L Hebel, MD is a member of the following medical societies: American Academy of Dermatology and 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; Professor of Medicine (Dermatology), University of Tennessee Health Science Center College of Medicine

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

Disclosure: Lundbeck, Inc. Honoraria Review panel membership; Clinuvel Pharmaceuticals, Ltd. Honoraria Consulting

Specialty Editor Board

Maureen B Poh-Fitzpatrick, MD  Professor Emerita of Dermatology and Special Lecturer, Columbia University College of Physicians and Surgeons; Professor of Medicine (Dermatology), University of Tennessee Health Science Center College of Medicine

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

Disclosure: Lundbeck, Inc. Honoraria Review panel membership; Clinuvel Pharmaceuticals, Ltd. Honoraria Consulting

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

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

Disclosure: Nothing to disclose.

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

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

References

  1. 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. Mar 2001;85(3):371. [Medline].

  2. 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. Dec 2005;141(12):1575-9. [Medline].

  3. 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. Mar 15 2007;109(6):2618-21. [Medline].

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

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

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

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

  8. 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. Dec 1 1998;92(11):4053-8. [Medline].

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

  10. Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital erythropoietic porphyria. J Am Acad Dermatol. Apr 1997;36(4):594-610. [Medline].

  11. Jensen JD, Resnick SD. Porphyria in childhood. Semin Dermatol. Mar 1995;14(1):33-9. [Medline].

  12. Lazebnik N, Lazebnik RS. The prenatal presentation of congenital erythropoietic porphyria: report of two siblings with elevated maternal serum alpha-fetoprotein. Prenat Diagn. Apr 2004;24(4):282-6. [Medline].

  13. Lim HW, Murphy GM. The porphyrias. Clin Dermatol. Jul-Aug 1996;14(4):375-87. [Medline].

  14. Mascaro JM. The porphyrias: a brief overview based on 25 years of experience (1969-1994) by the Department of Dermatology of the Hospital Clinic and Faculty of Medicine of Barcelona, Spain. J Dermatol. Nov 1995;22(11):823-8. [Medline].

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

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

  17. Zaider E, Bickers DR. Clinical laboratory methods for diagnosis of the porphyrias. Clin Dermatol. Mar-Apr 1998;16(2):277-93. [Medline].

 
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