General considerations

    Phototoxicity of porphyrins

    • 1  Wilkins PC, Wilkins RG. Inorganic Chemistry in Biology. Oxford: Oxford University Press, 1997.
    • 2  Constable EC. Coordination Chemistry of Macrocyclic Compounds. Oxford: Oxford University Press, 1999.
    • 3  Drabkin DL. Selected landmarks in the history of porphyrins and their biologically functional derivatives. In: Dolphin D, ed. The Porphyrins. New York: Academic Press, 1979:31–71.
    • 4  Wayne CE, Wayne RP, eds. Photophysics. In: Photochemistry. Oxford: Oxford University Press, 1996:39–58.

    Enzyme deficiencies and the porphyrias

    • 5  Elder GH. The cutaneous porphyrias. In: Hawk JLM, ed. Photodermatology. London: Arnold, 1999:171–99.
    • 6  Del C, Battle AM. Tetrapyrrole biosynthesis. Semin Dermatol 1986;5:70–87.

    Clinical features of the porphyrias: general considerations

      Classification of the porphyrias

      • 7  Elder GH. The cutaneous porphyrias. In: Hawk JLM, ed. Photodermatology. London: Arnold, 1999:171–99.
      • 8  Dean G. Historical background. In: Dean G, ed. The Porphyrias. A Story of Inheritance and Environment, 2nd edn. London: Pitman Medical, 1971:14–19.

      Porphyria and the skin

      • 9  Brun A, Sandberg S. Mechanisms of photosensitivity in porphyric patients with special emphasis on erythropoietic protoporphyria. J Photochem Photobiol B 1991;10:285–302. Cross Ref link Pubmed link
      • 10  Day RS. Variegate porphyria. Semin Dermatol 1986;5:138–54.
      • 11  Takeshita K, Takajo T, Hirata H, et al. In vivo oxygen radical generation in the skin of the protoporphyria model mouse with visible light exposure: an L‐band ESR study. J Invest Dermatol 2004;122:1463–70. Cross Ref link Pubmed link
      • 12  Lim HW, Poh‐Fitzpatrick M, Gigli I. Activation of the complement system in patients with porphyrias after irradiation in vivo. J Clin Invest 1984;74:1961–5. Cross Ref link Pubmed link
      • 13  Glover RA, Bailey CS, Barrett KE, et al. Histamine release from rodent and human mast cells induced by protoporphyrin and ultraviolet light: studies of the mechanism of mast‐cell activation in erythropoietic protoporphyria. Br J Dermatol 1990;122:501–12. Cross Ref link Pubmed link
      • 14  Herrmann G, Wlaschek M, Bolsen K, et al. Photosensitization of uroporphyrin augments the ultraviolet A‐induced synthesis of matrix metalloproteinases in human dermal fibroblasts. J Invest Dermatol 1996;107:398–403. Cross Ref link Pubmed link
      • 15  Caputo R, Berti E, Gasparini G, Monti M. The morphologic events of blister formation in porphyria cutanea tarda. Int J Dermatol 1983;22:467–72. Cross Ref link Pubmed link
      • 16  Poh‐Fitzpatrick MB, Sosin AE, Bemis J. Porphyrin levels in plasma and erythrocytes of chronic hemodialysis patients. J Am Acad Dermatol 1982;7:100–4. Cross Ref link Pubmed link
      • 17  Epstein JH, Tuffanelli DL, Epstein WL. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol 1973;107:689–98. Cross Ref link Pubmed link
      • 18  Wolff K, Hönigsmann H, Rauschmeier W, et al. Microscopic and fine structural aspects of porphyrias. Acta Derm Venereol Suppl (Stockh) 1982;100:17–28. Pubmed link
      • 19  Dabski C, Beutner EH. Studies of laminin and type IV collagen in blisters of porphyria cutanea tarda and drug‐induced pseudoporphyria. J Am Acad Dermatol 1991;25:28–32. Cross Ref link Pubmed link
      • 20  Gschnait FG, Wolff K, Konrad K. Erythropoietic protoprophyria – submicroscopic events during the acute photosensitivity flare. Br J Dermatol 1975;92:545–57. Cross Ref link Pubmed link
      • 21  Wick G, Honigsmann H, Timpl R. Immunofluorescence demonstration of type IV collagen and a noncollagenous glycoprotein in thickened vascular basal membranes in protoporphyria. J Invest Dermatol 1979;73:335–8. Cross Ref link Pubmed link
      • 22  Ryan EA, Madill GT. Electron microscopy of the skin in erythropoietic protoporphyria. Br J Dermatol 1968;80:561–70. Cross Ref link Pubmed link
      • 23  Moseley H, Cameron H, MacLeod T, et al. New sunscreens confer improved protection for photosensitive patients in the blue light region. Br J Dermatol 2001;145:789–94. Cross Ref link Pubmed link
      • 24  Kaye ET, Levin JA, Blank IH, et al. Efficiency of opaque photoprotective agents in the visible light range. Arch Dermatol 1991;127:351–5. Cross Ref link Pubmed link
      • 25  Johnson JA. Durable protection against long‐wavelength UV‐A radiation and blue light. Arch Dermatol 1992;128:409. Cross Ref link Pubmed link
      • 26  Huang JL, Zaider E, Roth P, et al. Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant. J Am Acad Dermatol 1996;34:924–7. Cross Ref link Pubmed link

      Acute attacks of porphyria

      • 27  Elder GH, Hift RJ, Meissner PN. The acute porphyrias. Lancet 1997;349:1613–17. Cross Ref link Pubmed link
      • 28  Day RS. Variegate porphyria. Semin Dermatol 1986;5:138–54.
      • 29  Mustajoki P, Kauppinen R, Lannfelt L, Lilius L, Koistinen J. Frequency of low erythrocyte porphobilinogen deaminase activity in Finland. J Intern Med 1992;231:389–95. Cross Ref link Pubmed link
      • 30  Meyer UA, Schuurmans MM, Lindberg RL. Acute porphyrias: pathogenesis of neurological manifestations. Semin Liver Dis 1998;18:43–52. Cross Ref link Pubmed link
      • 31  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 1993;91:1436–44. Cross Ref link Pubmed link
      • 32  Welsh Medicines Information Centre. http://www.wmic.wales.nhs.uk (last accessed May 2014).
      • 33  European Porphyria Network. http://www.porphyria‐europe.org/ (last accessed May 2014).
      • 34  Deacon AC, Elder GH. ACP Best Practice No. 165: front line tests for the investigation of suspected porphyria. J Clin Pathol 2001;54:500–7. Cross Ref link Pubmed link
      • 35  Deacon A. The porphyrias and their investigation. CPD Bull Clin Biochem 1999;1:122–6.

      Clinician's guide to laboratory testing in porphyria

      • 36  Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw‐Hill, 1995:2103–59.
      • 37  Elder GH. Testing for the cutaneous porphyrias (Appendix D). In: Hawk JLM, ed. Photodermatology. London: Arnold, 1999: 281–91.
      • 38  Deacon A. The porphyrias and their investigation. CPD Bull Clin Biochem 1999;1:122–6.
      • 39  Deacon AC, Elder GH. ACP Best Practice No 165: front line tests for the investigation of suspected porphyria. J Clin Pathol 2001;54:500–7. Cross Ref link Pubmed link
      • 40  Long C, Smyth SJ, Woolf J, et al. Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma. Br J Dermatol 1993;129:9–13. Cross Ref link Pubmed link
      • 41  Da Silva V, Simonin S, Deybach JC, et al. Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins. Clin Chim Acta 1995;238:163–8. Cross Ref link Pubmed link
      • 42  Kuhnel A, Gross U, Doss MO. Hereditary coproporphyria in Germany: clinical‐biochemical studies in 53 patients. Clin Biochem 2000;33:465–73. Cross Ref link Pubmed link

      Individual porphyrias

        Porphyrias that cause cutaneous disease but do not cause acute attacks

          Congenital erythropoietic porphyria

          • 43  Elder G, Harper P, Badminton M, et al. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013;36:849–57. Cross Ref link Pubmed link
          • 44  Sarkany RP, Ibbotson SH, Whatley SD, et al. Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria. J Invest Dermatol 2011;131:1172–5. Cross Ref link Pubmed link
          • 45  Nordmann Y, Deybach JC. Congenital erythropoietic porphyria. Semin Dermatol 1986;5:106–14.
          • 46  Katugampola RP, Badminton MN, Finlay AY, et al. Congenital erythropoietic porphyria: a single‐observer clinical study of 29 cases. Br J Dermatol 2012;167:901–13. Cross Ref link Pubmed link
          • 47  Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital erythropoietic porphyria. J Am Acad Dermatol 1997;36:594–610. Cross Ref link Pubmed link
          • 48  Berry AA, Desnick RJ, Astrin KH, et al. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. Arch Dermatol 2005;141:1575–9. Cross Ref link Pubmed link
          • 49  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;167:888–900. Cross Ref link Pubmed link
          • 50  Moseley H, Cameron H, MacLeod T, et al. New sunscreens confer improved protection for photosensitive patients in the blue light region. Br J Dermatol 2001;145:789–94. Cross Ref link Pubmed link
          • 51  Kaye ET, Levin JA, Blank IH, Arndt KA, Anderson RR. Efficiency of opaque photoprotective agents in the visible light range. Arch Dermatol 1991;127:351–5. Cross Ref link Pubmed link
          • 52  Huang JL, Zaider E, Roth P, et al. Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant. J Am Acad Dermatol 1996;34:924–7. Cross Ref link Pubmed link
          • 53  Rank JM, Straka JG, Weimer MK, et al. Hematin therapy in late onset congenital erythropoietic porphyria. Br J Haematol 1990;75:617–18. Cross Ref link Pubmed link
          • 54  Shaw PH, Mancini AJ, McConnell JP, et al. Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature. Bone Marrow Transplant 2001;27:101–5. Cross Ref link Pubmed link
          • 55  Geronimi F, Richard E, Lamrissi‐Garcia I, et al. Lentivirus‐mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells. J Mol Med 2003;81:310–20. Pubmed link
          • 56  Lazebnik N, Lazebnik RS. The prenatal presentation of congenital erythropoietic porphyria: report of two siblings with elevated maternal serum alpha‐fetoprotein. Prenat Diagn 2004;24:282–6. Cross Ref link Pubmed link

          Porphyria cutanea tarda

          • 57  Sarkany RPE. The management of porphyria cutanea tarda. Clin Exp Dermatol 2001;26:225–32. Cross Ref link Pubmed link
          • 58  Elder GH. Porphyria cutanea tarda. Semin Liver Dis 1998;18:67–75. Cross Ref link Pubmed link
          • 59  Elder GH, Urquhart AJ, De Salamanca RE, et al. Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda. Lancet 1985;2:229–33. Cross Ref link Pubmed link
          • 60  Bleiberg J, Wallew M, Brodkin K, et al. Industrially acquired porphyria. Arch Dermatol 1964;89:793–7. Cross Ref link Pubmed link
          • 61  Dean G. The Turkish epidemic of porphyria. In: Dean G, ed. The Porphyrias: a Story of Inheritance and Environment, 2nd edn. London: Pitman Medical, 1971:67–72.
          • 62  Phillips JD, Bergonia HA, Reilly CA, et al. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci 2007;104:5079–84. Cross Ref link Pubmed link
          • 63  Elder GH. Alcohol intake and porphyria cutanea tarda. Clin Dermatol 1999;17:431–6. Cross Ref link Pubmed link
          • 64  Caputo R, Berti E, Gasparini G, Monti M. The morphologic events of blister formation in porphyria cutanea tarda. Int J Dermatol 1983;22:467–72. Cross Ref link Pubmed link
          • 65  Grossman ME, Bickers DR, Poh‐Fitzpatrick MB, et al. Porphyria cutanea tarda: clinical features and laboratory findings in 40 patients. Am J Med 1979;67:277–86. Cross Ref link Pubmed link
          • 66  Mascaro JM, Herrero C, Lecha M, et al. Uroporphyrinogen‐decarboxylase deficiencies: porphyria cutanea tarda and related conditions. Semin Dermatol 1986;5:115–24.
          • 67  Byrne JP, Boss JM, Dawber RP. Contraceptive pill‐induced porphyria cutanea tarda presenting with onycholysis of the finger nails. Postgrad Med J 1976;52:535–8. Cross Ref link Pubmed link
          • 68  Varigos G, Schiltz JR, Bickers DR. Uroporphyrin I stimulation of collagen biosynthesis in human skin fibroblasts. A unique dark effect of porphyrin. J Clin Invest 1982;69:129–35. Cross Ref link Pubmed link
          • 69  Inglese MJ, Bergamo BM. Large, nonhealing scalp ulcer associated with scarring alopecia and sclerodermatous change in a patient with porphyria cutanea tarda. Cutis 2005;76:329–33. Pubmed link
          • 70  Doyle JA, Friedman SJ. Porphyria and scleroderma. A clinical and laboratory review of 12 patients. Australas J Dermatol 1983;24:109–14. Cross Ref link Pubmed link
          • 71  Park AJ, Webster GF, Penne RB, Raber IM. Porphyria cutanea tarda presenting as cicatricial conjunctivitis. Am J Ophthalmol 2002;134:619–21. Cross Ref link Pubmed link
          • 72  Shaffrali FC, McDonagh AJ, Messenger AG. Hair darkening in porphyria cutanea tarda. Br J Dermatol 2002;146:325–9. Cross Ref link Pubmed link
          • 73  Smith SG. Hepatoerythropoietic porphyria. Semin Dermatol 1986;5:125–37.
          • 74  Castano Suarez E, Zamarro Sanz O, Guerra Tapia A, et al. Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda. Dermatology 1996;193:332–5. Cross Ref link Pubmed link
          • 75  Sturrock ED, Meissner PN, Maeder DL, Kirsch RE. Uroporphyrinogen decarboxylase and protoporphyrinogen oxidase in dual porphyria. S Afr Med J 1989;76:405–8. Pubmed link
          • 76  Wolff K, Hönigsmann H, Rauschmeier W, et al. Microscopic and fine structural aspects of porphyrias. Acta Derm Venereol Suppl (Stockh) 1982;100:17–28. Pubmed link
          • 77  Bulaj ZJ, Phillips JD, Ajioka RS, et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 2000;95:1565–71. Pubmed link
          • 78  Bruguera M. Liver involvement in porphyria. Semin Dermatol 1986;5:178–85.
          • 79  Roberts AG, Whatley SD, Morgan RR, et al. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997;349:321–3. Cross Ref link Pubmed link
          • 80  Quecedo L, Costa J, Enriquez de Salamanca R. Role of hepatitis C virus in porphyria cutanea tarda hepatopathy. Med Clin (Barc) 1996;106:321–4. Pubmed link
          • 81  Fargion S, Piperno A, Cappellini MD, et al. Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association. Hepatology 1992;16:1322–6. Cross Ref link Pubmed link
          • 82  Linde Y, Harper P, Floderus Y, Ros AM. The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden. Acta Derm Venereol 2005;85:164–6. Cross Ref link Pubmed link
          • 83  Murphy A, Dooley S, Hillary IB, Murphy GM. HCV infection in porphyria cutanea tarda. Lancet 1993;341:1534–5. Cross Ref link Pubmed link
          • 84  Haberman HF, Rosenberg F, Menon IA. Porphyria cutanea tarda. Comparison of cases precipitated by alcohol and estrogens. Can Med Assoc J 1975;113:653–5. Pubmed link
          • 85  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;136:482–8. Cross Ref link Pubmed link
          • 86  Blauvelt A, Ross Harris H, Hogan DJ, et al. Porphyria cutanea tarda and human immunodeficiency virus infection. Int J Dermatol 1992;31:474–9. Cross Ref link Pubmed link
          • 87  Castanet J, Lacour JP, Bodokh J, et al. Porphyria cutanea tarda in association with human immunodeficiency virus infection: is it related to hepatitis C virus infection? Arch Dermatol 1994;130:664–5. Cross Ref link Pubmed link
          • 88  Cram DL, Epstein JK, Tuffanelli DL. Lupus erythematosus and porphyria. Arch Dermatol 1973;108:779–84. Cross Ref link Pubmed link
          • 89  Agarwal R, Peters TJ, Coombes RC, Vigushin DM. Tamoxifen‐related porphyria cutanea tarda. Med Oncol 2002;19:121–3. Cross Ref link Pubmed link
          • 90  Smith AG, Francis JE, Dinsdale D, et al. Hepatocarcinogenicity of hexachlorobenzene in rats and the sex difference in hepatic iron status and development of porphyria. Carcinogenesis 1985;6:631–6. Cross Ref link Pubmed link
          • 91  Gisbert JP, Garcia‐Buey L, Alonso A, et al. Hepatocellular carcinoma risk in patients with porphyria cutanea tarda. Eur J Gastroenterol Hepatol 2004;16:689–92. Cross Ref link Pubmed link
          • 92  Siersema PD, ten Kate FJW, Mulder PGH, Wilson JHP. Hepatocellular carcinoma in porphyria cutanea tarda: frequency and factors related to its occurrence. Liver 1992;12:56–61. Cross Ref link Pubmed link
          • 93  Salata H, Cortes JM, Enriquez de Salamanca R, et al. Porphyria cutanea tarda and hepatocellular carcinoma. Frequency of occurrence and related factors. J Hepatol 1985;1:477–87. Cross Ref link Pubmed link
          • 94  Tio TH, Leijnse B, Jarrett A. Acquired porphyria from a liver tumor. Clin Sci 1957;16:517–27. Pubmed link
          • 95  Moseley H, Cameron H, MacLeod T, et al. New sunscreens confer improved protection for photosensitive patients in the blue light region. Br J Dermatol 2001;145:789–94. Cross Ref link Pubmed link
          • 96  Kaye ET, Levin JA, Blank IH, Arndt KA, Anderson RR. Efficiency of opaque photoprotective agents in the visible light range. Arch Dermatol 1991;127:351–5. Cross Ref link Pubmed link
          • 97  Sheikh MY, Wright RA, Burruss JB. Dramatic resolution of skin lesions associated with porphyria cutanea tarda after interferon‐alpha therapy in a case of chronic hepatitis C. Dig Dis Sci 1998;43:529–33. Cross Ref link Pubmed link
          • 98  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;107:36–42. Pubmed link
          • 99  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;29:3–7. Cross Ref link Pubmed link
          • 100  Wennersten G, Ros A‐M. Chloroquine in treatment of porphyria cutanea tarda. Long‐term efficacy of combined phlebotomy and high‐dose chloroquine therapy. Acta Derm Venereol Suppl (Stockh) 1982;100:119–23. Pubmed link
          • 101  Pitche P, Corrin E, Wolkenstein P, et al. Successful treatment of haemodialysis‐related porphyria cutanea tarda with deferoxamine. Ann Dermatol Venereol 2003; 130: 37–9. Pubmed link
          • 102  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;114:621–9. Cross Ref link Pubmed link
          • 103  Sarkell B, Patterson JW. Treatment of porphyria cutanea tarda of end‐stage renal disease with erythropoietin. J Am Acad Dermatol 1993;29:499–500. Cross Ref link Pubmed link
          • 104  Scholnick PL, Epstein J, Marver HS. The molecular basis of the action of chloroquine in porphyria cutanea tarda. J Invest Dermatol 1973;61:226–32. Cross Ref link Pubmed link
          • 105  Malina L, Chlumsky J. A comparative study of the results of phlebotomy therapy and low‐dose chloroquine treatment in porphyria cutanea tarda. Acta Derm Venereol Suppl (Stockh) 1981;61:346–50.
          • 106  Ashton RE, Hawk JLM, Magnus IA. Low‐dose oral chloroquine in the treatment of porphyria cutanea tarda. Br J Dermatol 1984;111:609–13. Cross Ref link Pubmed link
          • 107  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;7:164–75. Cross Ref link
          • 108  Kordac V, Kotal JP, Kalab M. Agents affecting porphyrin formation and secretion: implications for porphyria cutanea tarda treatment. Semin Hematol 1989;26:16–23. Pubmed link
          • 109  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;10:1402–9. Cross Ref link Pubmed link
          • 110  Farinati F, Cardin R, DeMaria N, et al. Iron storage, lipid peroxidation and glutathione turnover in chronic HCV‐positive hepatitis. J Hepatol 1995;22:449–56. Cross Ref link Pubmed link
          • 111  Roeckel IE. Commentary: iron metabolism in hepatitis C infection. Ann Clin Lab Sci 2000;30:163–5. Pubmed link
          • 112  Stolzel U, Kostler E, Schuppan D, et al. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol 2003;139:309–13. Cross Ref link Pubmed link
          • 113  Elder GH. The cutaneous porphyrias. In: Hawk JLM, ed. Photodermatology. London: Arnold, 1999:171–99.

          Erythropoietic protoporphyria

          • 114  Elder G, Harper P, Badminton M, et al. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013;36:849–57. Cross Ref link Pubmed link
          • 115  Whatley SD, Ducamp S, Gouya L, et al. C‐terminal deletions in the ALAS2 gene lead to gain of function and cause X‐linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 2008;83:408–14. Cross Ref link Pubmed link
          • 116  Brun A, Sandberg S. Mechanisms of photosensitivity in porphyric patients with special emphasis on erythropoietic protoporphyria. J Photochem Photobiol B 1991;10:285–302. Cross Ref link Pubmed link
          • 117  Takeshita K, Takajo T, Hirata H, et al. In vivo oxygen radical generation in the skin of the protoporphyria model mouse with visible light exposure: an L‐band ESR study. J Invest Dermatol 2004;122:1463–70. Cross Ref link Pubmed link
          • 118  Minder EI, Gouya L, Schneider‐Yin X, Deybach JC. A genotype–phenotype correlation between null‐allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. Cell Mol Biol (Noisy‐le‐grand) 2002;48:91–6. Pubmed link
          • 119  Sarkany RP, Ross G, Willis F. Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. Br J Dermatol 2006;155:464–6. Cross Ref link Pubmed link
          • 120  Holme SA, Anstey AV, Finlay AY, et al. Erythropoietic protoporphyria in the UK: clinical features and effect on quality of life. Br J Dermatol 2006;155:574–81. Cross Ref link Pubmed link
          • 121  Deleo VA, Poh‐Fitzpatrick M, Mathews‐Roth M, Harber LC. Erythropoietic protoporphyria. Ten years experience. Am J Med 1976;60:8–22. Cross Ref link Pubmed link
          • 122  Poh‐Fitzpatrick MB. The ‘priming phenomenon’ in the acute phototoxicity of erythropoietic protoporphyria. J Am Acad Dermatol 1989;21:311. Cross Ref link Pubmed link
          • 123  Patel GK, Weston J, Derrick EK, Hawk JL. An unusual case of purpuric erythropoietic protoporphyria. Clin Exp Dermatol 2000;25:406–8. Cross Ref link Pubmed link
          • 124  Marsden RA, Dawber RP. Erythropoietic protoporphyria with onycholysis. Proc R Soc Med 1977;70:572–4. Pubmed link
          • 125  Murphy GM, Hawk JL, Magnus IA. Late‐onset erythropoietic protoporphyria with unusual cutaneous features. Arch Dermatol 1985;121:1309–12. Cross Ref link Pubmed link
          • 126  Holme SA, Whatley SD, Roberts AG, et al. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. J Invest Dermatol 2009;129:599–605. Cross Ref link Pubmed link
          • 127  Poh‐Fitzpatrick MB. Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. J Am Acad Dermatol 1997;36:40–3. Cross Ref link Pubmed link
          • 128  Wahlin S, Srikanthan N, Hamre B, et al. Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. Liver Transpl 2008;14:1340–6. Cross Ref link Pubmed link
          • 129  Holme SA, Anstey AV, Badminton MN, et al. Serum 25‐hydroxyvitamin D in erythropoietic protoporphyria. Br J Dermatol 2008;159:211–13. Cross Ref link Pubmed link
          • 130  Allo G, Del Carmen Garrido‐Astray M, De Salamanca RE, et al. Bone mineral density and vitamin D levels in erythropoietic protoporphyria. Endocrine 2013;44:803–7. Cross Ref link Pubmed link
          • 131  Deacon A. The porphyrias and their investigation. CPD Bull Clin Biochem 1999;1:122–6.
          • 132  Hanneken S, Siegesmund M, Bolsen K, et al. The prognostic value of cord blood analysis in erythropoietic protoporphyria: the ‘Duesseldorf Cord Blood Study’. Photodermatol Photoimmunol Photomed 2010;26:7–9. Cross Ref link Pubmed link
          • 133  Ryan EA, Madill GT. Electron microscopy of the skin in erythropoietic protoporphyria. Br J Dermatol 1968;80:561–70. Cross Ref link Pubmed link
          • 134  Epstein JH, Tuffanelli DL, Epstein WL. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol 1973;107:689–98. Cross Ref link Pubmed link
          • 135  Gschnait FG, Wolff K, Konrad K. Erythropoietic protoprophyria – submicroscopic events during the acute photosensitivity flare. Br J Dermatol 1975;92:545–57. Cross Ref link Pubmed link
          • 136  Wick G, Honigsmann H, Timpl R. Immunofluorescence demonstration of type IV collagen and a noncollagenous glycoprotein in thickened vascular basal membranes in protoporphyria. J Invest Dermatol 1979;73:335–8. Cross Ref link Pubmed link
          • 137  Moseley H, Cameron H, MacLeod T, et al. New sunscreens confer improved protection for photosensitive patients in the blue light region. Br J Dermatol 2001;145:789–94. Cross Ref link Pubmed link
          • 138  Kaye ET, Levin JA, Blank IH, et al. Efficiency of opaque photoprotective agents in the visible light range. Arch Dermatol 1991;127:351–5. Cross Ref link Pubmed link
          • 139  Johnson JA. Durable protection against long‐wavelength UV‐A radiation and blue light. Arch Dermatol 1992;128:409. Cross Ref link Pubmed link
          • 140  Norris PG, Baker CS, Roberts JE, Hawk JL. Treatment of erythropoietic protoporphyria with N‐acetylcysteine. Arch Dermatol 1995;131:354–5. Cross Ref link Pubmed link
          • 141  Tewari A, Marsden J, Naik H, et al. Oral cholestyramine is not an effective treatment for uncomplicated erythropoietic protoporphyria. J Am Acad Dermatol 2012;67:1383–4. Cross Ref link Pubmed link
          • 142  Roelandts R. Photo (chemo) therapy and general management of erythropoietic protoporphyria. Dermatology 1995;190:330–1. Cross Ref link Pubmed link
          • 143  Collins P, Ferguson J. Narrow‐band UVB (TL‐01) phototherapy. An effective preventative treatment for the photodermatoses. Br J Dermatol 1995;132:956–63. Cross Ref link Pubmed link
          • 144  Harms J, Lautenschlager S, Minder CE, et al. An alpha‐melanocyte‐stimulating hormone analogue in erythropoietic protoporphyria. N Engl J Med 2009;360:306–7. Cross Ref link Pubmed link
          • 145  Sarkany RPE, Cox TM. Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and hepatic failure. Q J Med 1995;88:541–9.
          • 146  Whatley SD, Mason NG, Khan M, et al. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet 2004;41:e105. Cross Ref link Pubmed link
          • 147  Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 2002;30:27–8. Cross Ref link Pubmed link
          • 148  Gouya L, Martin‐Schmitt C, Robreau AM, et al. Contribution of a common single‐nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 2006;78:2–14. Cross Ref link Pubmed link
          • 149  Wahlin S, Stal P, Adam R, et al. Liver transplantation for erythropoietic protoporphyria in Europe. Liver Transpl 2011;17:1021–6. Pubmed link
          • 150  Wahlin S, Aschan J, Bjornstedt M, et al. Curative bone marrow transplantation in erythropoietic protoporphyria after reversal of severe cholestasis. J Hepatol 2007;46:174–9. Cross Ref link Pubmed link
          • 151  Rand EB, Bunin N, Cochran W, Ruchelli E, et al. Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. Pediatrics 2006;118:e1896–9. Cross Ref link Pubmed link
          • 152  Doss MO, Frank M. Hepatobiliary implications and complications in protoporphyria, a 20‐year study. Clin Biochem 1989;22:223–9. Cross Ref link Pubmed link

          Porphyrias that cause cutaneous disease and acute attacks

            Hereditary coproporphyria

            • 153  Kuhnel A, Gross U, Doss MO. Hereditary coproporphyria in Germany: clinical‐biochemical studies in 53 patients. Clin Biochem 2000;33:465–73. Cross Ref link Pubmed link
            • 154  Hawk JL, Magnus IA, Parkes A, et al. Deficiency of hepatic coproporphyrinogen oxidase in hereditary coproporphyria. J R Soc Med 1978;71:775–7. Pubmed link
            • 155  Grandchamp B, Phung N, Nordmann Y. Homozygous case of hereditary coproporphyria. Lancet 1977;2:1348–9. Cross Ref link Pubmed link

            Variegate porphyria

            • 156  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 1993;91:1436–44. Cross Ref link Pubmed link
            • 157  Van Tuyll van Serooskerken AM, Drögemöller BI, te Velde K, et al. Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. Br J Dermatol 2012;166:261–5. Cross Ref link Pubmed link
            • 158  Elder G, Harper P, Badminton M, et al. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013;36:849–57. Cross Ref link Pubmed link
            • 159  Day RS. Variegate porphyria. Semin Dermatol 1986;5:138–54.
            • 160  Mustajoki P. Variegate porphyria. Twelve years' experience in Finland. Q J Med 1980;49:191–203. Pubmed link
            • 161  Timonen K, Niemi KM, Mustajoki P, Tenhunen R. Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study. Arch Dermatol Res 1990;282:108–14. Cross Ref link Pubmed link
            • 162  Elder GH, Hift RJ, Meissner PN. The acute porphyrias. Lancet 1997;349:1613–17. Cross Ref link Pubmed link
            • 163  Schneider‐Yin X, van Tuyll van Serooskerken AM, Went P, et al. Hepatocellular carcinoma in variegate porphyria: a serious complication. Acta Derm Venereol 201;90:512–15. Pubmed link
            • 164  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 2002;10:649–57. Cross Ref link Pubmed link
            • 165  Hift RJ, Meissner PN, Todd G, et al. Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad Med J 1993;69:781–6. Cross Ref link Pubmed link
            • 166  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;50:915–23. Cross Ref link Pubmed link
            • 167  Sturrock ED, Meissner PN, Maeder DL, Kirsch RE. Uroporphyrinogen decarboxylase and protoporphyrinogen oxidase in dual porphyria. S Afr Med J 1989;76:405–8. Pubmed link
            • 168  Deacon A. The porphyrias and their investigation. CPD Bull Clin Biochem 1999;1:122–6.
            • 169  Moseley H, Cameron H, MacLeod T, et al. New sunscreens confer improved protection for photosensitive patients in the blue light region. Br J Dermatol 2001;145:789–94. Cross Ref link Pubmed link
            • 170  Kaye ET, Levin JA, Blank IH, et al. Efficiency of opaque photoprotective agents in the visible light range. Arch Dermatol 1991;127:351–5. Cross Ref link Pubmed link
            • 171  The European Porphyria Network. http://www.porphyria‐europe.org/ (last accessed May2014).
            • 172  Stojeba N, Meyer C, Jeanpierre C, et al. Recovery from a variegate porphyria by a liver transplantation. Liver Transpl 2004;10:935–8. Cross Ref link Pubmed link
            • 173  Long C, Smyth SJ, Woolf J, et al. Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma. Br J Dermatol 1993;129:9–13. Cross Ref link Pubmed link
            • 174  Da Silva V, Simonin S, Deybach JC, et al. Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins. Clin Chim Acta 1995;238:163–8. Cross Ref link Pubmed link

            Miscellaneous

              Pseudoporphyria

              • 175  Green JJ, Manders SM. Pseudoporphyria. J Am Acad Dermatol 2001;44:100–8. Cross Ref link Pubmed link
              • 176  Lang BA, Finlayson LA. Naproxen‐induced pseudoporphyria in patients with juvenile rheumatoid arthritis. J Pediatr 1994;124:639–42. Cross Ref link Pubmed link
              • 177  Stenberg A. Pseudoporphyria and sunbeds. Acta Derm Venereol 1990;70:354–6. Pubmed link
              • 178  Day RS, Eales L. Porphyrins in chronic renal failure. Nephron 1980;26:90–5. Cross Ref link Pubmed link
              • 179  Maynard B, Peters MS. Histologic and immunofluorescence study of cutaneous porphyrias. J Cutan Pathol 1992;19:40–7. Cross Ref link Pubmed link
              • 180  Girschick HJ, Hamm H, Ganser G, Huppertz HI. Naproxen‐induced pseudoporphyria: appearance of new skin lesions after discontinuation of treatment. Scand J Rheumatol 1995;24:108–11. Cross Ref link Pubmed link