Congenital Erythropoietic Porphyria Clinical Presentation

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

History

The typical complaint is blistering and fragility of light-exposed skin in an individual with discolored urine. The presentation of erythropoietic porphyria at birth in a patient with a history of a difficult perinatal course and concomitant jaundice usually indicates severe disease. Patients may have a history of hemolytic anemia before the complete diagnosis was recognized. Very early prenatal expression with nonimmune hydrops fetalis has been reported.

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Physical

Findings at physical examination may include the following:

Skin

  • Photosensitivity, with formation of vesicles and bullae, occurs early in the course of the disease.
  • Increased fragility and erosions can contribute to mutilation, especially on the face (eg, nose, mouth, ears) and hands.
  • Hypertrichosis of the face and extremities is common.

Oral

  • The teeth have a reddish color.
  • The teeth fluoresce under a Wood light due to porphyrin deposition in dentine and enamel.

Urine

  • Pink staining of the diapers in the neonatal period is common.
  • This staining is due to the porphyrin pigment in the urine.

Ocular [1]

  • Ocular manifestations of erythropoietic porphyria include blepharitis, cicatricial ectropion, and conjunctivitis. Lagophthalmos is a major cause of light-induced ocular surface aggravation.
  • Scleral findings include interpalpebral fissures and pink fluorescence of the perilimbal sclera under a Wood light.
  • Subsequent bilateral corneal scarring may occur, with eventual blindness. The risk for malignant conjunctival degeneration is low.

Skeletal

  • Porphyrins are also deposited in the bone, where they cause an orange-red fluorescence.
  • The severe loss of bone with subsequent contractures and deformities occurs in most adults with erythropoietic porphyria.
  • X-ray studies show osteopenia and acro-osteolysis.
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Causes

Erythropoietic porphyria is caused by autosomal recessive inheritance of genes that encode abnormal uroporphyrinogen III synthase enzyme protein. The resultant deficient activity of this enzyme leads to hemolytic anemia, cutaneous photosensitivity, and their complications. The mutation that causes the most severe deficiency of the enzyme uroporphyrinogen III synthase is C73R.[2]

The GATA gene family, a group of transcription factors, has a crucial role in normal human hematopoiesis. A mutation in GATA1, an X-linked transcription factor, has been reported in association with erythropoietic porphyria.[3]

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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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