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迟发性皮肤卟啉病和肝红细胞生成性卟啉病

Authors
Ashwani K Singal, MD, MS
Karl E Anderson, MD, FACP
Section Editor
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, MD
Translators
王倩, 主治医师

引言

迟发性皮肤卟啉病(porphyria cutanea tarda, PCT)和肝红细胞生成性卟啉病(hepatoerythropoietic porphyria, HEP)是由血红素生物合成途径中的第5种酶，即尿卟啉原脱羧酶(uroporphyrinogen decarboxylase, UROD)的活性缺乏所造成的卟啉病(图 1)[1]。(参见“Porphyrias: An overview”)两者都会出现慢性光敏性水疱，但除此之外临床表现不同。

  • PCT是最常见的人类卟啉病，通常在中年或晚年发病。约20%的PCT患者遗传性UROD突变属于杂合性，据说这类PCT属于家族型(或2型)疾病，是一种外显率低的常染色体显性疾病。无UROD突变的PCT称为散发型(1型)PCT。当可能存在尿卟啉亚甲基(即被部分氧化的尿卟啉原分子)抑制因子，肝脏UROD活性被抑制，降至约正常水平的20%以下时，1型和2型PCT都会发病[2]。这种抑制因子的产生要求肝脏中的铁含量正常或升高。
  • HEP是家族型PCT的常染色体隐性遗传形式。这种罕见的疾病与更严重的UROD缺乏有关[3]，且通常于儿童期发病，其特征与先天性红细胞生成性卟啉病(congenital erythropoietic porphyria, CEP)相似。

本文将总结PCT和HEP。其他类型的卟啉病将单独讨论。

迟发性皮肤卟啉病

定义和来历 — PCT由获得性UROD缺乏引起，通过临床特征和生化检查结果界定。遗传性UROD缺乏可导致部分患者发病。慢性水疱性皮肤表现具有特征性但无特异性。高度羧基化的卟啉(主要为尿卟啉和七羧基卟啉)在肝脏中大量蓄积，随后出现在血浆和尿液中[1,4]。

1911年，Gunther将皮肤光暴露区有疼痛性皮肤损害和卟啉水平升高的成人归为慢性血卟啉病患者[5]。1937年，Waldenstrom将这种疾病重新命名为“迟发性皮肤卟啉病”，以强调该病以皮肤表现为主并且发病相对较晚的特点[6]。后来明确地区分了这种疾病与引起水疱性皮肤损害的其他类型卟啉病。

                                         

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References
Top
  1. Elder GH. Porphyria cutanea tarda and related disorders. In: The Porphyrin Handbook, Kadish K, Smith K, Guilard R (Eds), Elsevier Science, San Diego 2003. Vol 14, p.67.
  2. Phillips JD, Bergonia HA, Reilly CA, et al. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci U S A 2007; 104:5079.
  3. Elder GH, Smith SG, Herrero C, et al. Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? Lancet 1981; 1:916.
  4. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: The Metabolic and Molecular Basis of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, et al. (Eds), McGraw-Hill, New York 2001. p.2991.
  5. Gunther H. Die hämatoporphyrie. Dtsh Arch Klin Med 1911; 105:89.
  6. Waldenstrom J. Studien über porphyrie. Acta Med Scand 1937; Suppl82.
  7. Harber LC, Bickers DR. Photosensitivity diseases: principles of diagnosis and treatment, WB Saunders, Philadelphia 1981. p.189.
  8. Brady JJ, Jackson HA, Roberts AG, et al. Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. J Invest Dermatol 2000; 115:868.
  9. Grossman ME, Bickers DR, Poh-Fitzpatrick MB, et al. Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients. Am J Med 1979; 67:277.
  10. 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 1995; 22:823.
  11. Stevens HP, Ostlere LS, Black CM, Rustin MH. Generalized morphoea secondary to porphyria cutanea tarda. Br J Dermatol 1993; 129:455.
  12. Magnus IA. Cutaneous porphyria. Clin Haematol 1980; 9:273.
  13. Lim HW, Poh-Fitzpatrick MB, Gigli I. Activation of the complement system in patients with porphyrias after irradiation in vivo. J Clin Invest 1984; 74:1961.
  14. Lançoni G, Ravinal RC, Costa RS, Roselino AM. Mast cells and transforming growth factor-beta expression: a possible relationship in the development of porphyria cutanea tarda skin lesions. Int J Dermatol 2008; 47:575.
  15. Maynard B, Peters MS. Histologic and immunofluorescence study of cutaneous porphyrias. J Cutan Pathol 1992; 19:40.
  16. Scholnick PL, Epstein J, Marver HS. The molecular basis of the action of chloroquine in porphyria cutanea tarda. J Invest Dermatol 1973; 61:226.
  17. Bonkovsky HL, Poh-Fitzpatrick M, Pimstone N, et al. Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology 1998; 27:1661.
  18. Fakan F, Chlumská A. Demonstration of needle-shaped hepatic inclusions in porphyria cutanea tarda using the ferric ferricyanide reduction test. Virchows Arch A Pathol Anat Histopathol 1987; 411:365.
  19. Cortés JM, Oliva H, Paradinas FJ, Hernandez-Guío C. The pathology of the liver in porphyria cutanea tarda. Histopathology 1980; 4:471.
  20. Chlumska A, Chlumsky J, Malina L. Liver changes in porphyria cutanea tarda patients treated with chloroquine. Br J Dermatol 1980; 102:261.
  21. Kordac V. Frequency of occurrence of hepatocellular carcinoma in patients with porphyria cutanea tarda in long-term follow-up. Neoplasma 1972; 19:135.
  22. Linet MS, Gridley G, Nyrén O, et al. Primary liver cancer, other malignancies, and mortality risks following porphyria: a cohort study in Denmark and Sweden. Am J Epidemiol 1999; 149:1010.
  23. Jalil S, Grady JJ, Lee C, Anderson KE. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol 2010; 8:297.
  24. Méndez M, Poblete-Gutiérrez P, García-Bravo M, et al. Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. Br J Dermatol 2007; 157:501.
  25. Garey JR, Hansen JL, Harrison LM, et al. A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. Blood 1989; 73:892.
  26. McManus JF, Begley CG, Sassa S, Ratnaike S. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. Blood 1996; 88:3589.
  27. 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; 58:712.
  28. Mendez M, Sorkin L, Rossetti MV, et al. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Am J Hum Genet 1998; 63:1363.
  29. Phillips JD, Whitby FG, Stadtmueller BM, et al. Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). Transl Res 2007; 149:85.
  30. Badenas C, To-Figueras J, Phillips JD, et al. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clin Genet 2009; 75:346.
  31. Gorman N, Zaharia A, Trask HS, et al. Effect of an oral iron chelator or iron-deficient diets on uroporphyria in a murine model of porphyria cutanea tarda. Hepatology 2007; 46:1927.
  32. Nakano K, Ishizuka M, Sakamoto KQ, Fujita S. Absolute requirement for iron in the development of chemically induced uroporphyria in mice treated with 3-methylcholanthrene and 5-aminolevulinate. Biometals 2009; 22:345.
  33. Turnbull A, Baker H, Vernon-Roberts B, Magnus IA. Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria. Q J Med 1973; 42:341.
  34. Bygum A, Brandrup F. Iron overload in porphyria cutanea tarda. Br J Dermatol 2000; 143:1116.
  35. Bonkovsky HL, Lambrecht RW, Shan Y. Iron as a co-morbid factor in nonhemochromatotic liver disease. Alcohol 2003; 30:137.
  36. Lundvall O, Weinfeld A, Lundin P. Iron storage in porphyria cutanea tarda. Acta Med Scand 1970; 1-2:37.
  37. Elder GH. Porphyrin metabolism in porphyria cutanea tarda. Semin Hematol 1977; 14:227.
  38. Sampietro M, Fiorelli G, Fargion S. Iron overload in porphyria cutanea tarda. Haematologica 1999; 84:248.
  39. Dereure O, Jumez N, Bessis D, et al. Measurement of liver iron content by magnetic resonance imaging in 20 patients with overt porphyria cutanea tarda before phlebotomy therapy: a prospective study. Acta Derm Venereol 2008; 88:341.
  40. Bulaj ZJ, Phillips JD, Ajioka RS, et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 2000; 95:1565.
  41. Stuart KA, Busfield F, Jazwinska EC, et al. The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients. J Hepatol 1998; 28:404.
  42. Ellervik C, Birgens H, Tybjaerg-Hansen A, Nordestgaard BG. Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. Hepatology 2007; 46:1071.
  43. Ajioka RS, Phillips JD, Weiss RB, et al. Down-regulation of hepcidin in porphyria cutanea tarda. Blood 2008; 112:4723.
  44. Stölzel U, Köstler E, Koszka C, et al. Low prevalence of hepatitis C virus infection in porphyria cutanea tarda in Germany. Hepatology 1995; 21:1500.
  45. HALLEN J, KROOK H. Follow-up studies on an unselected ten-year material of 360 patients with liver cirrhosis in one community. Acta Med Scand 1963; 173:479.
  46. Harrison-Findik DD, Klein E, Crist C, et al. Iron-mediated regulation of liver hepcidin expression in rats and mice is abolished by alcohol. Hepatology 2007; 46:1979.
  47. Ohtake T, Saito H, Hosoki Y, et al. Hepcidin is down-regulated in alcohol loading. Alcohol Clin Exp Res 2007; 31:S2.
  48. Sinclair PR, Gorman N, Tsyrlov IB, et al. Uroporphyrinogen oxidation catalyzed by human cytochromes P450. Drug Metab Dispos 1998; 26:1019.
  49. Fontanellas A, Martínez-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; 19:e326.
  50. Christiansen L, Bygum A, Jensen A, et al. Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda. Hum Genet 2000; 107:612.
  51. Wickliffe JK, Abdel-Rahman SZ, Lee C, et al. CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Mol Med 2011; 17:241.
  52. Fargion S, Piperno A, Cappellini MD, et al. Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association. Hepatology 1992; 16:1322.
  53. Kristiansen MG, Løchen ML, Gutteberg TJ, et al. Hepatitis C virus infection was not found in patients with sporadic porphyria cutanea tarda, membranoproliferative glomerulonephritis or membranous glomerulonephritis in Northern Norway. Scand J Gastroenterol 2009; 44:894.
  54. DeCastro M, Sánchez J, Herrera JF, et al. Hepatitis C virus antibodies and liver disease in patients with porphyria cutanea tarda. Hepatology 1993; 17:551.
  55. Navas S, Bosch O, Castillo I, et al. Porphyria cutanea tarda and hepatitis C and B viruses infection: a retrospective study. Hepatology 1995; 21:279.
  56. Lamoril J, Andant C, Bogard C, et al. Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda. Hepatology 1998; 27:848.
  57. Korenaga M, Okuda M, Otani K, et al. Mitochondrial dysfunction in hepatitis C. J Clin Gastroenterol 2005; 39:S162.
  58. Miura K, Taura K, Kodama Y, et al. Hepatitis C virus-induced oxidative stress suppresses hepcidin expression through increased histone deacetylase activity. Hepatology 2008; 48:1420.
  59. Wissel PS, Sordillo P, Anderson KE, et al. Porphyria cutanea tarda associated with the acquired immune deficiency syndrome. Am J Hematol 1987; 25:107.
  60. Drobacheff C, Derancourt C, Van Landuyt H, et al. Porphyria cutanea tarda associated with human immunodeficiency virus infection. Eur J Dermatol 1998; 8:492.
  61. Castanet J, Lacour JP, Bodokh J, et al. Porphyria cutanea tarda in association with human immunodeficiency virus infection: it is related to hepatitis C virus infection? Arch Dermatol 1994; 130:664.
  62. Mansourati FF, Stone VE, Mayer KH. Porphyria cutanea tarda and HIV/AIDS: a review of pathogenesis, clinical manifestations and management. Int J STD AIDS 1999; 10:51.
  63. Goerz G, Hammer G. Porphyria cutanea tarda and pregnancy. Dermatologica 1983; 166:316.
  64. Egger NG, Goeger DE, Payne DA, et al. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig Dis Sci 2002; 47:419.
  65. Rajka G. Pregnancy and porphyria cutanea tarda. Acta Derm Venereol 1984; 64:444.
  66. Roenigk HH Jr, Gottlob ME. Estrogen-induced porphyria cutanea tarda. Report of three cases. Arch Dermatol 1970; 102:260.
  67. Wang MY, Liehr JG. Identification of fatty acid hydroperoxide cofactors in the cytochrome P450-mediated oxidation of estrogens to quinone metabolites. Role and balance of lipid peroxides during estrogen-induced carcinogenesis. J Biol Chem 1994; 269:284.
  68. SCHMID R. Acquired porphyria. JAMA 1963; 183:133.
  69. CAN C, NIGOGOSYAN G. Acquired toxic porphyria cutanea tarda due to hexachlorobenzene. Report of 348 cases caused by this fungicide. JAMA 1963; 183:88.
  70. Jones RE, Chelsky M. Further discussion concerning porphyria cutanea tarda and TCDD exposure. Arch Environ Health 1986; 41:100.
  71. Collins AG, Nichol AW, Elsbury S. Porphyria cutanea tarda and agricultural pesticides. Australas J Dermatol 1982; 23:70.
  72. Bleakley P, Nichol AW, Collins AG. Diazinon and porphyria cutanea tarda. Med J Aust 1979; 1:314.
  73. Gibson GE, McEvoy MT. Coexistence of lupus erythematosus and porphyria cutanea tarda in fifteen patients. J Am Acad Dermatol 1998; 38:569.
  74. Rossmann-Ringdahl I, Olsson R. Porphyria cutanea tarda in a Swedish population: risk factors and complications. Acta Derm Venereol 2005; 85:337.
  75. Lee SC, Yun SJ, Lee JB, et al. A case of porphyria cutanea tarda in association with idiopathic myelofibrosis and CREST syndrome. Br J Dermatol 2001; 144:182.
  76. Seubert S, Seubert A, Rumpf KW, Kiffe H. A porphyria cutanea tarda-like distribution pattern of porphyrins in plasma, hemodialysate, hemofiltrate, and urine of patients on chronic hemodialysis. J Invest Dermatol 1985; 85:107.
  77. Anderson KE, Goeger DE, Carson RW, et al. Erythropoietin for the treatment of porphyria cutanea tarda in a patient on long-term hemodialysis. N Engl J Med 1990; 322:315.
  78. de Verneuil H, Sassa S, Kappas A. Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III. J Biol Chem 1983; 258:2454.
  79. Jackson AH, Sancovich HA, Ferramola AM, et al. Macrocyclic intermediates in the biosynthesis of porphyrins. Philos Trans R Soc Lond B Biol Sci 1976; 273:191.
  80. Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol 1980; 116:543.
  81. Deacon AC, Elder GH. ACP Best Practice No 165: front line tests for the investigation of suspected porphyria. J Clin Pathol 2001; 54:500.
  82. Aarsand AK, Boman H, Sandberg S. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. Clin Chem 2009; 55:795.
  83. Thunell S, Harper P. Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda--suggestions for a handling programme. Scand J Clin Lab Invest 2000; 60:561.
  84. Sarkany RP. The management of porphyria cutanea tarda. Clin Exp Dermatol 2001; 26:225.
  85. Hindmarsh JT, Oliveras L, Greenway DC. Plasma porphyrins in the porphyrias. Clin Chem 1999; 45:1070.
  86. O'Reilly K, Snape J, Moore MR. Porphyria cutanea tarda resulting from primary hepatocellular carcinoma. Clin Exp Dermatol 1988; 13:44.
  87. Ochiai T, Morishima T, Kondo M. Symptomatic porphyria secondary to hepatocellular carcinoma. Br J Dermatol 1997; 136:129.
  88. Anderson KE. Pseudoporphyria versus porphyria cutanea tarda. J Pediatr 1993; 123:841.
  89. Bulaj ZJ, Franklin MR, Phillips JD, et al. Transdermal estrogen replacement therapy in postmenopausal women previously treated for porphyria cutanea tarda. J Lab Clin Med 2000; 136:482.
  90. Millar JW. Rifampicin-induced porphyria cutanea tarda. Br J Dis Chest 1980; 74:405.
  91. Ramsay CA, Magnus IA, Turnbull A, Baker H. The treatment of porphyria cutanea tarda by venesection. Q J Med 1974; 43:1.
  92. 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; 29:3.
  93. Epstein JH, Redeker AG. Porphyria cutanea tarda. A study of the effect of phlebotomy. N Engl J Med 1968; 279:1301.
  94. Lundvall O. The effect of phlebotomy therapy in porphyria cutanea tarda. Its relation to the phlebotomy-induced reduction of iron stores. Acta Med Scand 1971; 189:33.
  95. Chlumský J, Malina L, Chlumská A. The effect of venesection therapy on liver tissue in porphyria cutanea tarda. Acta Hepatogastroenterol (Stuttg) 1973; 20:124.
  96. Ippen H. Treatment of porphyria cutanea tarda by phlebotomy. Semin Hematol 1977; 14:253.
  97. Enríquez de Salamanca R, Rico R, Peña ML, et al. Patterns of porphyrin excretion in porphyria cutanea tarda under venesection treatment. Int J Biochem 1980; 12:861.
  98. Di Padova C, Marchesi L, Cainelli T, et al. Effects of phlebotomy on urinary porphyrin pattern and liver histology in patients with porphyria cutanea tarda. Am J Med Sci 1983; 285:2.
  99. Adjarov D, Donov M, Ivanov E, Naidenova E. Phlebotomy treatment in porphyria cutanea tarda combined with beta-thalassaemia. Dermatologica 1984; 169:184.
  100. Rocchi E, Gibertini P, Cassanelli M, et al. Serum ferritin in the assessment of liver iron overload and iron removal therapy in porphyria cutanea tarda. J Lab Clin Med 1986; 107:36.
  101. Rocchi E, Gibertini P, Cassanelli M, et al. Iron removal therapy in porphyria cutanea tarda: phlebotomy versus slow subcutaneous desferrioxamine infusion. Br J Dermatol 1986; 114:621.
  102. Enríquez de Salamanca R, Mingo D, Chinarro S, et al. Patterns of porphyrin-excretion in female estrogen-induced porphyria cutanea tarda. Arch Dermatol Res 1982; 274:179.
  103. Epstein JH, Redeker AG. Porphyria cutanea tarda symptomatica (PCT-S). A study of the effect of phlebotomy therapy. Arch Dermatol 1965; 92:286.
  104. Tavill AS, American Association for the Study of Liver Diseases, American College of Gastroenterology, American Gastroenterological Association. Diagnosis and management of hemochromatosis. Hepatology 2001; 33:1321.
  105. Shieh S, Cohen JL, Lim HW. Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review. J Am Acad Dermatol 2000; 42:645.
  106. SWEENEY GD, SAUNDERS SJ, DOWDLE EB, EALES L. EFFECTS OF CHLOROQUINE ON PATIENTS WITH CUTANEOUS PORPHYRIA OF THE "SYMPTOMATIC" TYPE. Br Med J 1965; 1:1281.
  107. Ashton RE, Hawk JL, Magnus IA. Low-dose oral chloroquine in the treatment of porphyria cutanea tarda. Br J Dermatol 1984; 111:609.
  108. Freesemann A, Frank M, Sieg I, Doss MO. Treatment of porphyria cutanea tarda by the effect of chloroquine on the liver. Skin Pharmacol 1995; 8:156.
  109. Wolff C, Armas R, Krause P, et al. [Treatment of porphyria cutanea tarda with chloroquine and its effect on associated liver disease: retrospective analysis]. Rev Med Chil 1996; 124:456.
  110. Kordac V, Papezová R, Semrádová M. Chloroquine in the treatment of porphyria cutanea tarda. N Engl J Med 1977; 296:949.
  111. 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; 10:1402.
  112. Stölzel U, Köstler E, Schuppan D, et al. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol 2003; 139:309.
  113. Rocchi E, Cassanelli M, Ventura E. High weekly intravenous doses of desferrioxamine in porphyria cutanea tarda. Br J Dermatol 1987; 117:393.
  114. Pandya AG, Nezafati KA, Ashe-Randolph M, Yalamanchili R. Deferasirox for porphyria cutanea tarda: a pilot study. Arch Dermatol 2012; 148:898.
  115. Gibertini P, Rocchi E, Cassanelli M, et al. Advances in the treatment of porphyria cutanea tarda. Effectiveness of slow subcutaneous desferrioxamine infusion. Liver 1984; 4:280.
  116. Rocchi E, Cassanelli M, Borghi A, et al. Liver iron overload and desferrioxamine treatment of porphyria cutanea tarda. Dermatologica 1991; 182:27.
  117. Marchesi L, Di Padova C, Cainelli T, et al. A comparative trial of desferrioxamine and hydroxychloroquine for treatment of porphyria cutanea tarda in alcoholic patients. Photodermatol 1984; 1:286.
  118. Monastirli A, Georgiou S, Bolsen K, et al. Treatment of porphyria cutanea tarda with oral thalidomide. Skin Pharmacol Appl Skin Physiol 1999; 12:305.
  119. Miyauchi S, Shiraishi S, Miki Y. Small volume plasmapheresis in the management of porphyria cutanea tarda. Arch Dermatol 1983; 119:752.
  120. Ayres S Jr, Mihan R. Porphyria cutanea tarda: response to vitamin E. A review and two case reports. Cutis 1978; 22:50.
  121. Binet H, Simonart T, Van Vooren JP, et al. Porphyria cutanea tarda in a human immunodeficiency virus-infected patient: treatment with N-acetyl-cysteine. Int J Dermatol 1998; 37:718.
  122. Bertoli LF, Barton JC. Remission of porphyria cutanea tarda after anastrozole treatment of breast cancer. Clin Breast Cancer 2007; 7:716.
  123. Perry HO, Mullanax MG, Wiegand SE. Metabolic alkalinization therapy in porphyria cutanea tarda. Arch Dermatol 1970; 102:359.
  124. Fernández 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; 38:314.
  125. Enriquez de Salamanca R, Olmos A, Peña ML, et al. The genetic basis of porphyria cutanea tarda. Arch Dermatol Res 1985; 277:8.
  126. Meguro K, Fujita H, Ishida N, et al. Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. J Invest Dermatol 1994; 102:681.
  127. Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, et al. Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Arch Dermatol 2010; 146:529.
  128. Horina JH, Wolf P. Epoetin for severe anemia in hepatoerythropoietic porphyria. N Engl J Med 2000; 342:1294.
  129. Day RS, Strauss PC. Severe cutaneous porphyria in a 12-year-old boy: hepatoerythropoietic or symptomatic porphyria? Arch Dermatol 1982; 118:663.
  130. Lim HW, Poh-Fitzpatrick MB. Hepatoerythropoietic porphyria: a variant of childhood-onset porphyria cutanea tarda. Porphyrin profiles and enzymatic studies of two cases in a family. J Am Acad Dermatol 1984; 11:1103.
  131. Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol 2006; 135:281.
  132. Boudghène-Stambouli O, Mérad-Boudia A. [Hepato-erythropoietic porphyria]. Ann Dermatol Venereol 1995; 122:615.
  133. Ged C, Ozalla D, Herrero C, et al. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol 2002; 138:957.
  134. Tishler PV, Winston SH. Rapid improvement in the chemical pathology of congenital erythropoietic porphyria with treatment with superactivated charcoal. Methods Find Exp Clin Pharmacol 1990; 12:645.
  135. Pimstone NR, Gandhi SN, Mukerji SK. Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria. N Engl J Med 1987; 316:390.
  136. Christiansen L, Ged C, Hombrados I, et al. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. Hum Mutat 1999; 14:222.