Congenital Erythropoietic Porphyria: Follow-up

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].

Further Reading

Keywords

erythropoietic porphyria, Gunther's disease, Gunther disease, congenital erythropoietic porphyria, congenital porphyria, porphyria erythropoietica, congenital hematoporphyria, erythropoietic uroporphyria, porphyrin synthesis, heme synthesis, EP, uroporphyrinogen III synthase

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; Professor of Medicine (Dermatology), University of Tennessee
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: Nothing to disclose.

Medical Editor

Maureen B Poh-Fitzpatrick, MD, Professor Emerita of Dermatology and Special Lecturer, Columbia University; Professor of Medicine (Dermatology), University of Tennessee
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: Nothing to disclose.

Pharmacy Editor

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
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.

Managing Editor

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.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine 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, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.