Porphyria Cutanea Tarda Questions & Answers

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2. Ryan Caballes F, Sendi H, Bonkovsky HL. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int. 2012 Jul. 32 (6):880-93. [QxMD MEDLINE Link].

3. Dubart A, Mattei MG, Raich N, Beaupain D, Romeo PH, Mattei JF. Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1. Hum Genet. 1986 Jul. 73(3):277-9. [QxMD MEDLINE Link].

4. Moran-Jimenez MJ, Ged C, Romana M, et al. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am J Hum Genet. 1996 Apr. 58(4):712-21. [QxMD MEDLINE Link]. [Full Text].

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7. Cam C, Nigogosyan G. Acquired toxic porphyria cutanea tarda due to hexachlorobenzene. Report of 348 cases caused by this fungicide. JAMA. 1963 Jan 12. 183:88-91. [QxMD MEDLINE Link].

8. Ajioka RS, Phillips JD, Weiss RB, Dunn DM, Smit MW, Proll SC. Down-regulation of hepcidin in porphyria cutanea tarda. Blood. 2008 Dec 1. 112(12):4723-8. [QxMD MEDLINE Link].

9. Bonkovsky HL, Lambrecht RW, Shan Y. Iron as a co-morbid factor in nonhemochromatotic liver disease. Alcohol. 2003 Jun. 30(2):137-44. [QxMD MEDLINE Link].

10. Strong A, Keller K, Merves J. Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda. Mol Genet Metab Rep. 2020 Dec. 25:100638. [QxMD MEDLINE Link].

11. Neeleman RA, Wensink D, Wagenmakers MAEM, Mijnhout GS, Friesema ECH, Langendonk JG. Diagnostic and therapeutic strategies for porphyrias. Neth J Med. 2020 Jul. 78 (4):149-160. [QxMD MEDLINE Link].

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13. Rudnick S, Bonkovsky HL. Editorial: hepatitis C and porphyria cutanea tarda in 2020. Aliment Pharmacol Ther. 2020 Jun. 51 (12):1432-1434. [QxMD MEDLINE Link].

14. Larrondo J, Gosch M. Porphyria Cutanea Tarda Due to Primary Hemochromatosis. Am J Med. 2020 May 13. [QxMD MEDLINE Link].

15. Edwards MV, Ray JM, Bacon BR. Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis. ACG Case Rep J. 2019 Nov. 6 (11):e00247. [QxMD MEDLINE Link].

16. Phillips JD, Bergonia HA, Reilly CA, Franklin MR, Kushner JP. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci U S A. 2007 Mar 20. 104(12):5079-84. [QxMD MEDLINE Link]. [Full Text].

17. Kushner JP, Barbuto AJ, Lee GR. An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity. J Clin Invest. 1976 Nov. 58(5):1089-97. [QxMD MEDLINE Link]. [Full Text].

18. Elder GH, Lee GB, Tovey JA. Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. N Engl J Med. 1978 Aug 10. 299(6):274-8. [QxMD MEDLINE Link].

19. Grossman ME, Bickers DR, Poh-Fitzpatrick MB, Deleo VA, Harber LC. Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients. Am J Med. 1979 Aug. 67(2):277-86. [QxMD MEDLINE Link].

20. Elder GH, Roberts AG. Uroporphyrinogen decarboxylase. J Bioenerg Biomembr. 1995 Apr. 27(2):207-14. [QxMD MEDLINE Link].

21. Egger NG, Goeger DE, Payne DA, Miskovsky EP, Weinman SA, Anderson KE. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig Dis Sci. 2002 Feb. 47(2):419-26. [QxMD MEDLINE Link].

22. Cruz-Rojo J, Fontanellas A, Moran-Jimenez MJ, et al. Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients. Cell Mol Biol (Noisy-le-grand). 2002 Dec. 48(8):845-52. [QxMD MEDLINE Link].

23. Jalil S, Grady JJ, Lee C, Anderson KE. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2010 Mar. 8(3):297-302, 302.e1. [QxMD MEDLINE Link]. [Full Text].

24. Elder GH. Alcohol intake and porphyria cutanea tarda. Clin Dermatol. 1999 Jul-Aug. 17(4):431-6. [QxMD MEDLINE Link].

25. Bonkovsky HL, Poh-Fitzpatrick M, Pimstone N, et al. Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology. 1998 Jun. 27(6):1661-9. [QxMD MEDLINE Link].

26. Edwards CQ, Griffen LM, Goldgar DE, Skolnick MH, Kushner JP. HLA-linked hemochromatosis alleles in sporadic porphyria cutanea tarda. Gastroenterology. 1989 Oct. 97(4):972-81. [QxMD MEDLINE Link].

27. Toll A, Celis R, Ozalla MD, Bruguera M, Herrero C, Ercilla MG. The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection. J Eur Acad Dermatol Venereol. 2006 Nov. 20(10):1201-6. [QxMD MEDLINE Link].

28. Lambrecht RW, Bonkovsky HL. Hemochromatosis and porphyria. Semin Gastrointest Dis. 2002 Apr. 13(2):109-19. [QxMD MEDLINE Link].

29. Stransky J, Malina L, Cieslarova B, Stritesky J, Putova I, Horak J. Overt and hidden coinfection with hepatitis B and C viruses in chronic liver disease and porphyria cutanea tarda. Acta Virol. 2000 Feb. 44(1):23-8. [QxMD MEDLINE Link].

30. Oubina JR, Quarleri JF, Sawicki MA, et al. Hepatitis C virus and GBV-C/hepatitis G virus in Argentine patients with porphyria cutanea tarda. Intervirology. 2001. 44(4):215-8. [QxMD MEDLINE Link].

31. Hift RJ, Meissner PN, Todd G. Hepatoerythropoietic porphyria precipitated by viral hepatitis. Gut. 1993 Nov. 34(11):1632-4. [QxMD MEDLINE Link]. [Full Text].

32. Gisbert JP, Garcia-Buey L, Pajares JM, Moreno-Otero R. Prevalence of hepatitis C virus infection in porphyria cutanea tarda: systematic review and meta-analysis. J Hepatol. 2003 Oct. 39(4):620-7. [QxMD MEDLINE Link].

33. Sastre L, To-Figueras J, Lens S, Rodriguez-Tajes S, Bartres C, Aguilera P, et al. Resolution of subclinical porphyria cutanea tarda after hepatitis C eradication with direct-acting anti-virals. Aliment Pharmacol Ther. 2020 May. 51 (10):968-973. [QxMD MEDLINE Link].

34. Hashemi L, Nisenbaum R. A Case-Based Review of Iron Overload With an Emphasis on Porphyria Cutanea Tarda, Hepatitis C, C282Y Heterozygosity, and Coronary Artery Disease. Fed Pract. 2020 Feb. 37 (2):95-100. [QxMD MEDLINE Link].

35. Handler NS, Handler MZ, Stephany MP, Handler GA, Schwartz RA. Porphyria cutanea tarda: an intriguing genetic disease and marker. Int J Dermatol. 2017 Jun. 56 (6):e106-e117. [QxMD MEDLINE Link].

36. Fontanellas A, Martinez-Fresno M, Garrido-Astray MC, et al. Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda. Exp Dermatol. 2010 Feb 16. [QxMD MEDLINE Link].

37. Merk HF. [Porphyria cutanea tara]. Hautarzt. 2016 Mar. 67 (3):207-10. [QxMD MEDLINE Link].

38. Callen JP. Hepatitis C Viral Infection and Porphyria Cutanea Tarda. Am J Med Sci. 2017 Jul. 354 (1):5-6. [QxMD MEDLINE Link].

39. Badenas C, To-Figueras J, Phillips JD, Warby CA, Munoz C, Herrero C. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clin Genet. 2009 Apr. 75(4):346-53. [QxMD MEDLINE Link].

40. Christiansen L, Brøns-Poulsen J, Horder M, Brock A, Petersen NE. Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations. Scand J Clin Lab Invest. 2005. 65(3):227-35. [QxMD MEDLINE Link].

41. Poblete-Gutierrez P, Mendez M, Wiederholt T, et al. The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene. Exp Dermatol. 2004 Jun. 13(6):372-9. [QxMD MEDLINE Link].

42. Succi IB, Pôrto LC, Silva D, Nascimento A, Neto RC, Fonseca JC. SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry. Ann Hum Genet. 2018 May 17. [QxMD MEDLINE Link].

43. Elder GH. Hepatic porphyrias in children. J Inherit Metab Dis. 1997 Jun. 20(2):237-46. [QxMD MEDLINE Link].

44. Elder GH, Smith SG, Herrero C, et al. Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda?. Lancet. 1981 Apr 25. 1(8226):916-9. [QxMD MEDLINE Link].

45. Toback AC, Sassa S, Poh-Fitzpatrick MB, et al. Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. N Engl J Med. 1987 Mar 12. 316(11):645-50. [QxMD MEDLINE Link].

46. Armstrong DK, Sharpe PC, Chambers CR, Whatley SD, Roberts AG, Elder GH. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Br J Dermatol. 2004 Oct. 151(4):920-3. [QxMD MEDLINE Link].

47. Gisbert JP, Garcia-Buey L, Alonso A, et al. Hepatocellular carcinoma risk in patients with porphyria cutanea tarda. Eur J Gastroenterol Hepatol. 2004 Jul. 16(7):689-92. [QxMD MEDLINE Link].

48. Dawe R. An overview of the cutaneous porphyrias. F1000Res. 2017. 6:1906. [QxMD MEDLINE Link].

49. Campos S, Lencastre A. sQuiz your knowledge: Expanding scarring alopecia in a patient with porphyria cutanea tarda. Eur J Dermatol. 2017 Apr 1. 27 (2):222-223. [QxMD MEDLINE Link].

50. Sinclair PR, Gorman N, Shedlofsky SI, et al. Ascorbic acid deficiency in porphyria cutanea tarda. J Lab Clin Med. 1997 Aug. 130(2):197-201. [QxMD MEDLINE Link].

51. Tatsumi C, Kudo M, Ueshima K, et al. Noninvasive evaluation of hepatic fibrosis using serum fibrotic markers, transient elastography (FibroScan) and real-time tissue elastography. Intervirology. 2008. 51 Suppl 1:27-33. [QxMD MEDLINE Link].

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

53. Fung MA, Murphy MJ, Hoss DM, Berke A, Grant-Kels JM. The sensitivity and specificity of "caterpillar bodies" in the differential diagnosis of subepidermal blistering disorders. Am J Dermatopathol. 2003 Aug. 25(4):287-90. [QxMD MEDLINE Link].

54. Wolff K, Honigsmann H, Rauschmeier W, Schuler G, Pechlaner R. Microscopic and fine structural aspects of porphyrias. Acta Derm Venereol Suppl (Stockh). 1982. 100:17-28. [QxMD MEDLINE Link].

55. Lefkowitch JH, Grossman ME. Hepatic pathology in porphyria cutanea tarda. Liver. 1983 Feb. 3(1):19-29. [QxMD MEDLINE Link].

56. Ippen H. Treatment of porphyria cutanea tarda by phlebotomy. Semin Hematol. 1977 Apr. 14(2):253-9. [QxMD MEDLINE Link].

57. Ramsay CA, Magnus IA, Turnbull A, Baker H. The treatment of porphyria cutanea tarda by venesection. Q J Med. 1974 Jan. 43(169):1-24. [QxMD MEDLINE Link].

58. Poh-Fitzpatrick MB, Honig PJ, Kim HC, Sassa S. Childhood-onset familial porphyria cutanea tarda: effects of therapeutic phlebotomy. J Am Acad Dermatol. 1992 Nov. 27(5 Pt 2):896-900. [QxMD MEDLINE Link].

59. Ratnaike S, Blake D, Campbell D, Cowen P, Varigos G. Plasma ferritin levels as a guide to the treatment of porphyria cutanea tarda by venesection. Australas J Dermatol. 1988 Apr. 29(1):3-8. [QxMD MEDLINE Link].

60. Fernandez I, Castellano G, de Salamanca RE, et al. Porphyria cutanea tarda as a predictor of poor response to interferon alfa therapy in chronic hepatitis C. Scand J Gastroenterol. 2003 Mar. 38(3):314-9. [QxMD MEDLINE Link].

61. Taljaard JJ, Shanley BC, Stewart-Wynne EG, Deppe WM, Joubert SM. Studies on low dose chloroquine therapy and the action of chloroquine in symptomatic porphyria. Br J Dermatol. 1972 Sep. 87(3):261-9. [QxMD MEDLINE Link].

62. Kordac V, Semradova M. Treatment of porphyria cutanea tarda with chloroquine. Br J Dermatol. 1974 Jan. 90(1):95-100. [QxMD MEDLINE Link].

63. Battle AM, Stella AM, De Kaminsky AR, Kaminsky C, Mariano HG. Two cases of infantile porphyria cutanea tarda: successful treatment with oral S-adenosyl-L-methionine and low-dose oral chloroquine. Br J Dermatol. 1987 Mar. 116(3):407-15. [QxMD MEDLINE Link].

64. Bruce AJ, Ahmed I. Childhood-onset porphyria cutanea tarda: successful therapy with low-dose hydroxychloroquine (Plaquenil). J Am Acad Dermatol. 1998 May. 38(5 Pt 2):810-4. [QxMD MEDLINE Link].

65. Stolzel U, Kostler E, Schuppan D, et al. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol. 2003 Mar. 139(3):309-13. [QxMD MEDLINE Link].

66. Singal AK, Kormos-Hallberg C, Lee C, Sadagoparamanujam VM, Grady JJ, Freeman DH Jr. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2012 Dec. 10(12):1402-9. [QxMD MEDLINE Link].

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Anthony W Linfante, Jr, MD Resident Physician, Department of Dermatology, University of Texas Medical Branch School of Medicine

Disclosure: Nothing to disclose.

Meredith M Gavin MD Candidate, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Meredith M Gavin is a member of the following medical societies: Alpha Omega Alpha, American Medical Association, American Medical Women's Association, Gold Humanism Honor Society, Texas Medical Association

Disclosure: Nothing to disclose.

Brandon Patrick Goodwin, MD Assistant Professor of Dermatology/Dermatopathology, Assistant Lab Director, Dermatopathology Laboratory, University of Texas Medical Branch School of Medicine; Ambulatory Medical Director, UTMB Health Dermatology Clinic

Brandon Patrick Goodwin, 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 of Dermatopathology, Houston Dermatological Society, Texas Dermatological Society

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, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Julia R Nunley, MD Professor, 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, Women's Dermatologic Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: American Board of Dermatology<br/>Author for: Up-to-date.

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.

Craig A Elmets, MD Professor and Chair, Department of Dermatology, Director, Chemoprevention Program Director, Comprehensive Cancer Center, UAB Skin Diseases Research Center, University of Alabama at Birmingham School of Medicine

Craig A Elmets, MD is a member of the following medical societies: American Academy of Dermatology, American Association of Immunologists, American College of Physicians, American Federation for Medical Research, Society for Investigative Dermatology

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: University of Alabama at Birmingham; University of Alabama Health Services Foundation<br/>Serve(d) as a speaker or a member of a speakers bureau for: Ferndale Laboratories<br/>Received research grant from: NIH, Veterans Administration, California Grape Assn<br/>Received consulting fee from Astellas for review panel membership; Received salary from Massachusetts Medical Society for employment; Received salary from UpToDate for employment. for: Astellas.

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

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