eMedicine Specialties > Dermatology > Metabolic Diseases

Congenital Erythropoietic Porphyria: Differential Diagnoses & Workup

Author: Jeanette L Hebel, MD, Department of Dermatology, Lancaster General Hospital
Coauthor(s): Maureen B Poh-Fitzpatrick, MD, Professor Emerita of Dermatology and Special Lecturer, Columbia University; Professor of Medicine (Dermatology), University of Tennessee
Contributor Information and Disclosures

Updated: Jan 12, 2009

Differential Diagnoses

Erythropoietic Protoporphyria
Porphyria Cutanea Tarda
Pseudoporphyria
Variegate Porphyria
Xeroderma Pigmentosum

Workup

Laboratory Studies

  • Porphyrin analyses
    • Urinary porphyrin concentrations are increased 100-1000 times and involve predominantly uroporphyrin I.
    • Urinary excretion of uroporphyrin III and coproporphyrin III is also elevated; however, the level is less than that of the isomer I porphyrins.
    • Urinary delta-aminolevulinic acid and porphobilinogen levels are not increased in erythropoietic porphyria.
    • Erythrocytes most often contain increased levels of uroporphyrin I; also, elevated zinc protoporphyrin is observed in some patients.
    • The combination of elevated urinary and erythrocyte isomer I porphyrin levels is specific for erythropoietic porphyria.
    • Coproporphyrin preferentially accumulates as fecal porphyrin after the decarboxylation of uroporphyrin.
  • Complete blood cell count
    • Excessive uroporphyrins in red blood cells appear to cause fragility; therefore, a hemolytic anemia is common.
    • Consequent splenomegaly and hepatomegaly are observed.
  • A test to measure uroporphyrinogen III synthase activity is commercially available.
  • Mutation analysis of the uroporphyrinogen III synthase gene (ie, DNA testing) is performed at porphyria research units in several countries and has become commercially available in the United States. See the American Porphyria Foundation for further information.

Other Tests

  • Fluorescence microscopy of peripheral blood or bone marrow specimens
  • Red porphyrin fluorescence in intact erythrocytes and erythroid precursor cells can be observed in smears of bone marrow specimens illuminated by violet or blue light against a dark-field background.
  • The brilliant fluorescence of nuclei in erythrocyte precursor cells is specific for erythropoietic porphyria.

Histologic Findings

Similar dermatopathologic changes can be found in all types of porphyria with photocutaneous manifestations. The characteristic feature is a subepidermal blister with a slight superficial perivascular lymphocytic infiltrate. Blood vessels in the superficial vascular plexus have markedly thickened, hyalinized walls that contain periodic acid-Schiff (PAS)–positive, diastase-resistant glycoproteins. Papillary dermal tips often festoon into the blister cavity due to the increased rigidity of the hyalinized vessel walls.

Caterpillar bodies, which are eosinophilic linear structures in the roofs of bullae composed of basement membrane material, are described in blisters of patients with several forms of porphyria. Direct immunofluorescence tests reveal linear C3 and immunoglobulin G staining around the superficial vessels and along the dermoepidermal junction.4

More on Congenital Erythropoietic Porphyria

Overview: Congenital Erythropoietic Porphyria
Differential Diagnoses & Workup: Congenital Erythropoietic Porphyria
Treatment & Medication: Congenital Erythropoietic Porphyria
Follow-up: Congenital Erythropoietic Porphyria
References
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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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Further Reading

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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

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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; 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.

 
 
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