Variegate Porphyria Differential Diagnoses

  • Author: Maureen B Poh-Fitzpatrick, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Sep 1, 2011
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

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

David Woodley, MD  Co-Chair, Professor, Department of Medicine, Division of Dermatology, University of Southern California

David Woodley, MD is a member of the following medical societies: American Academy of Dermatology, American Association for the Advancement of Science, American College of Emergency Physicians, American College of Physicians, American Federation for Medical Research, American Society for Clinical Investigation, New York Academy of Medicine, Society for Investigative Dermatology, and Southern Medical Association

Disclosure: Nothing to disclose.

Richard P Vinson, MD  Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Julia R Nunley, MD  Professor, Program Director, Dermatology Residency, Department of Dermatology, Virginia Commonwealth University Medical Center

Julia R Nunley, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, American Society of Nephrology, International Society of Nephrology, Medical Dermatology Society, Medical Society of Virginia, National Kidney Foundation, Phi Beta Kappa, and Women's Dermatologic Society

Disclosure: Nothing to disclose.

Joel M Gelfand, MD, MSCE  Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania

Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology

Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

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. Brenner DA, Bloomer JR. The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts. N Engl J Med. Apr 3 1980;302(14):765-9. [Medline].

  2. Meissner PN, Day RS, Moore MR, Disler PB, Harley E. Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria. Eur J Clin Invest. Jun 1986;16(3):257-61. [Medline].

  3. Kirsch RE, Meissner PN, Hift RJ. Variegate porphyria. Semin Liver Dis. 1998;18(1):33-41. [Medline].

  4. Whatley SD, Puy H, Morgan RR, et al. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Am J Hum Genet. Oct 1999;65(4):984-94. [Medline].

  5. Eales L, Day RS, Blekkenhorst GH. The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem. 1980;12(5-6):837-53. [Medline].

  6. Mustajoki P. Variegate porphyria. Twelve years' experience in Finland. Q J Med. Spring 1980;49(194):191-203. [Medline].

  7. Bonkowsky HL, Schady W. Neurologic manifestations of acute porphyria. Semin Liver Dis. May 1982;2(2):108-24. [Medline].

  8. Bonkovsky HL, Barnard GF. The Porphyrias. Curr Treat Options Gastroenterol. Dec 2000;3(6):487-500. [Medline].

  9. Meissner P, Adams P, Kirsch R. Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria. J Clin Invest. Apr 1993;91(4):1436-44. [Medline].

  10. Meyer UA, Schuurmans MM, Lindberg RL. Acute porphyrias: pathogenesis of neurological manifestations. Semin Liver Dis. 1998;18(1):43-52. [Medline].

  11. Dean G. The porphyrias. A story of inheritance and environment. London: Pitman Medical; 1971:2nd ed.

  12. Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet. May 1996;13(1):95-7. [Medline].

  13. van Serooskerken AM, Ernst M, Bladergroen RS, Wolff C, Floderus Y, Harper P. A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?. J Dermatol Sci. Jan 2011;61(1):75-7. [Medline].

  14. Frank J, Alta VM, Ahmad W, Lam H, Wolff C, Christiano AM. Identification of a Founder Mutation in the Protoporphyrinogen Oxidase Gene in Variegate Porphyria Patients from Chile. Human Heredity. 2001;51:160-8.

  15. Hift RJ, Meissner PN. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine (Baltimore). Jan 2005;84(1):48-60. [Medline].

  16. Mustajoki P, Tenhunen R, Niemi KM, Nordmann Y, Kaariainen H, Norio R. Homozygous variegate porphyria. A severe skin disease of infancy. Clin Genet. Nov 1987;32(5):300-5. [Medline].

  17. Corrigall AV, Hift RJ, Davids LM, et al. Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. Mol Genet Metab. Apr 2000;69(4):323-30. [Medline].

  18. von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R. Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. Eur J Hum Genet. Oct 2002;10(10):649-57. [Medline].

  19. Hift RJ, Meissner D, Meissner PN. A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family. Br J Dermatol. Aug 2004;151(2):465-71. [Medline].

  20. Korda V, Deybach JC, Martasek P, et al. Homozygous variegate porphyria. Lancet. Apr 14 1984;1(8381):851. [Medline].

  21. Hift RJ, Meissner PN, Todd G, et al. Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad Med J. Oct 1993;69(816):781-6. [Medline].

  22. Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol. Nov 2006;135(3):281-92. [Medline].

  23. Hift RJ, Davidson BP, van der Hooft C, Meissner DM, Meissner PN. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem. May 2004;50(5):915-23. [Medline].

  24. Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol. May 1980;116(5):543-7. [Medline].

  25. Logan GM, Weimer MK, Ellefson M, Pierach CA, Bloomer JR. Bile porphyrin analysis in the evaluation of variegate porphyria. N Engl J Med. May 16 1991;324(20):1408-11. [Medline].

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

  27. Epstein JH, Tuffanelli DL, Epstein WL. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol. May 1973;107(5):689-98. [Medline].

  28. Timonen K, Niemi KM, Mustajoki P, Tenhunen R. Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study. Arch Dermatol Res. 1990;282(2):108-14. [Medline].

  29. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. Mar 15 2005;142(6):439-50. [Medline].

  30. Kalman DR, Bonkovsky HL. Management of acute attacks in the porphyrias. Clin Dermatol. Mar-Apr 1998;16(2):299-306. [Medline].

  31. Tschudy DP, Welland FH, Collins A, Hunter G Jr. The effect of carbohydrate feeding on the induction of delta-aminolevulinic acid synthatase. Metabolism. May 1964;13:396-406. [Medline].

  32. Bonkovsky HL, Healey JF, Lourie AN, Gerron GG. Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. Am J Gastroenterol. Aug 1991;86(8):1050-6. [Medline].

  33. Anderson KE, Spitz IM, Sassa S, Bardin CW, Kappas A. Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone. N Engl J Med. Sep 6 1984;311(10):643-5. [Medline].

  34. Stojeba N, Meyer C, Jeanpierre C, et al. Recovery from a variegate porphyria by a liver transplantation. Liver Transpl. Jul 2004;10(7):935-8. [Medline].

  35. Schneider-Yin X, van Tuyll van Serooskerken AM, Went P, Tyblewski W, Poblete-Gutiérrez P, Minder EI. Hepatocellular carcinoma in variegate porphyria: a serious complication. Acta Derm Venereol. Sep 2010;90(5):512-5. [Medline].

  36. Muraldihar A, Vikram RS, Pechtor K, Howell MR. Recurrent variegate porphyria in a pregnant woman. Journal of Obstetrics and Gynaecology. 2006;8:809-824.

  37. Wolff C, Merino RA. Porfiria y embarazo. Rev Med Chile. 2008;136:151-156.

  38. Marsden JT, Rees DC. A retrospective analysis of outcome of pregnancy in patients with acute porphyria. J Inherit Metab Dis. Oct 2010;33(5):591-6. [Medline].

 
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