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Congenital Erythropoietic Porphyria Clinical Presentation

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

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

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.

A newly described clinical feature is multiple pink, soft papules of the nasolabial and perioral region that are asymptomatic and have the histology of a hamartoma.[1]

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 [2]

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. Radiographic 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.[3]

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.[4]

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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.

 
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Clinical classification of porphyrias.
 
 
 
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