Porphyria cutanea tarda

References

Key articles

Phillips JD, Bergonia HA, Reilly CA, et al. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci USA. 2007 Jan;104:5079-84.Full text  Abstract

Jalil S, Grady JJ, Lee C, et al. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2010 Mar;8(3):297-302;e1.Full text  Abstract

Singal AK. Porphyria cutanea tarda: recent update. Mol Genet Metab. 2019 Nov;128(3):271-81. Abstract

Handler NS, Handler MZ, Stephany MP, et al. Porphyria cutanea tarda: an intriguing genetic disease and marker. Int J Dermatol. 2017 Jun;56(6):e106-17. Abstract

Reference articles

1. Phillips JD, Anderson KE. The porphyrias (Chapter 59). In: Kaushansky K, Lichtman MA, Prchal JT, et al, eds. Williams Hematology, 10th ed. New York, NY: McGraw-Hill;2020:961-86.

2. Thawani R, Moghe A, Idhate T, et al. Porphyria cutanea tarda in a child with acute lymphoblastic leukemia. QJM. 2016 Mar;109(3):191-2.Full text  Abstract

3. Phillips JD, Bergonia HA, Reilly CA, et al. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci USA. 2007 Jan;104:5079-84.Full text  Abstract

4. Nichols RC, Cooper S, Trask HW, et al. Uroporphyrin accumulation in hepatoma cells expressing human or mouse CYP1A2: relation to the role of CYP1A2 in human porphyria cutanea tarda. Biochem Pharmacol. 2003 Feb 15;65(4):545-50. Abstract

5. Jalil S, Grady JJ, Lee C, et al. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2010 Mar;8(3):297-302;e1.Full text  Abstract

6. Singal AK. Porphyria cutanea tarda: recent update. Mol Genet Metab. 2019 Nov;128(3):271-81. Abstract

7. Bulaj ZJ, Phillips JD, Ajioka RS, et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood. 2000 Mar 1;95(5):1565-71.Full text  Abstract

8. Vieira FM, Nakhle MC, Abrantes-Lemos CP, et al. Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. An Bras Dermatol. 2013 Jul-Aug;88(4):530-40.Full text  Abstract

9. Handler NS, Handler MZ, Stephany MP, et al. Porphyria cutanea tarda: an intriguing genetic disease and marker. Int J Dermatol. 2017 Jun;56(6):e106-17. Abstract

10. Dereure O, Aguilar-Martinez P, Bessis D, et al. HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France. Br J Dermatol. 2001 Mar;144(3):533-9. Abstract

11. 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. Abstract

12. Rocchi E, Stella AM, Cassanelli M, et al. Liposoluble vitamins and naturally occurring carotenoids in porphyria cutanea tarda. Eur J Clin Invest. 1995 Jul;25(7):510-4. Abstract

13. Rossmann-Ringdahl I, Olsson R. Porphyria cutanea tarda in a Swedish population: risk factors and complications. Acta Derm Venereol. 2005;85(4):337-41.Full text  Abstract

14. Woolf J, Marsden JT, Degg T, et al. Best practice guidelines on first-line laboratory testing for porphyria. Ann Clin Biochem. 2017 Mar;54(2):188-98. Abstract

15. Bajaj D, Pachyala A, Singal AK. Porphyria cutanea tarda is a biochemical and not histological diagnosis. Gastroenterol Hepatol Open Access. 2016 Oct;5(8):00175.Full text

16. Ratnaike S, Blake D, Campbell D, et al. Plasma ferritin levels as a guide to the treatment of porphyria cutanea tarda by venesection. Australas J Dermatol. 1988 Apr;29(1):3-8. Abstract

17. Andersen J, Thomsen J, Enes ÅR, et al. Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study. Health Qual Life Outcomes. 2020 Mar 30;18(1):84.Full text  Abstract

18. Grossman ME, Bickers DR, Poh-Fitzpatrick MB, et al. Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients. Am J Med. 1979 Aug;67(2):277-86. Abstract

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

20. Long C, Smyth SJ, Woolf J, et al. Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma. Br J Dermatol. 1993 Jul;129(1):9-13. Abstract

21. Hift RJ, Davidson BP, Van der Hooft C, et al. 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. 2004 May;50(5):915-23.Full text  Abstract

22. Hift RJ, Davidson BP, Van der Hooft C, et al. 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. 2004 May;50(5):915-23.Full text  Abstract

23. Singal AK, Kormos-Hallberg C, Lee C, et al. 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.Full text  Abstract

24. Ashton RE, Hawk JL, Magnus IA. Low-dose oral chloroquine in the treatment of porphyria cutanea tarda. Br J Dermatol. 1984 Nov;111(5):609-13. Abstract

25. Valls V, Ena J, Enriquez-De-Salamanca R. Low-dose oral chloroquine in patients with porphyria cutanea tarda and low-moderate iron overload. J Dermatol Sci. 1994 Jun;7(3):169-75. Abstract

26. Freesemann A, Frank M, Sieg I, et al. Treatment of porphyria cutanea tarda by the effect of chloroquine on the liver. Skin Pharmacol. 1995;8(3):156-61. Abstract

27. Malkinson FD, Levitt L. Hydroxychloroquine treatment of porphyria cutanea tarda. Arch Dermatol. 1980 Oct;116(10):1147-50. Abstract

28. Sood G, Anderson KE. Porphyrias. In: Crowther MA, Ginsberg J, Schunemann H, et al, eds. Evidence-based hematology. Hoboken, NJ: Wiley; 2008:229-37.

29. Combalia A, To-Figueras J, Laguno M, et al. Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. Br J Dermatol. 2017 Nov;177(5):e183-4. Abstract

30. Singal AK, Venkata KVR, Jampana S, et al. Hepatitis C treatment in patients with porphyria cutanea tarda. Am J Med Sci. 2017 Jun;353(6):523-8. Abstract

31. 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. Abstract

32. Heimbach JK, Kulik LM, Finn RS, et al. AASLD guidelines for the treatment of hepatocellular carcinoma. Hepatology. 2018 Jan;67(1):358-80.Full text  Abstract

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