Abstract
The porphyrias are a group of disorders caused by defects in the biosynthesis of haem. Their relevance to the skin arises from the phototoxic properties of the accumulated porphyrins.
The majority of the porphyrias are inherited. Many of them affect other organs as well as the skin. Some may cause dangerous acute attacks.
The porphyrias that commonly present to dermatologists are congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), porphyria cutanea tarda (PCT) and variegate porphyria (VP). Hereditary coproporphyria (HC) less commonly presents in the skin. Porphyrias present in the skin in three ways: mutilating photosensitivity (congenital erythropoietic porphyria), immediate painful photosensitivity (erythropoietic protoporphyria) or bullae and skin fragility (porphyria cutanea tarda, variegate porphyria). Diagnosis depends on laboratory analysis of body fluids for porphyrins by an experienced laboratory. Porphyria cutanea tarda is an acquired disease; the rest are hereditary. PCT is frequently caused by a variety of systemic and hepatological diseases. PCT and EPP may be complicated by liver disease; CEP has severe and multiple internal complications; VP can cause life-threatening acute attacks. Management involves visible light photoprotection for all the porphyrias. PCT is fully treatable by low-dose antimalarial drugs or venesection.
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References
Allo G, del Carmen Garrido-Astray M, Méndez M, et al. Bone mineral density and vitamin D levels in erythropoietic protoporphyria. Endocrine. 2013;44:803–7
Ashton RE, Hawk JLM, Magnus IA. Low-dose oral chloroquine in the treatment of porphyria cutanea tarda. Br J Dermatol. 1984;111:609–13.
Blauvelt A, Ross Harris H, Hogan DJ, et al. Porphyria cutanea tarda and human immunodeficiency virus infection. Int J Dermatol. 1992;31:474–9.
Bruguera M. Liver involvement in porphyria. Semin Dermatol. 1986;5:178–85.
Brun A, Sandberg S. Mechanisms of photosensitivity in porphyric patients with special emphasis on erythropoietic protoporphyria. J Photochem Photobiol B. 1991;10:285–302.
Bulaj ZJ, Phillips JD, Ajioka RS, et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood. 2000a;95:1565–71.
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. 2000b;136:482–8.
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.
Collins P, Ferguson J. Narrow-band UVB (TL-01) phototherapy. An effective preventative treatment for the photodermatoses. Br J Dermatol. 1995;132:956–63.
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.
Day RS. Variegate porphyria. Semin Dermatol. 1986;5:138–54.
Deacon A. The porphyrias and their investigation. CPD Bull Clin Biochem. 1999;1:122–6.
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.
Dean G. The Turkish epidemic of porphyria. In: Dean G, editor. The porphyrias: a story of inheritance and environment. 2nd ed. London: Pitman Medical; 1971. p. 67–72.
Deleo VA, Poh-Fitzpatrick M, Mathews-Roth M, Harber LC. Erythropoietic protoporphyria. Ten years experience. Am J Med. 1976;60:8–22.
Doss MO, Frank M. Hepatobiliary implications and complications in protoporphyria, a 20-year study. Clin Biochem. 1989;22:223–9.
Elder GH. Porphyria cutanea tarda. Semin Liver Dis. 1998;18:67–75.
Elder GH. The cutaneous porphyrias. In: Hawk JLM, editor. Photodermatology. London: Arnold; 1999a. p. 171–99.
Elder GH. Alcohol intake and porphyria cutanea tarda. Clin Dermatol. 1999b;17:431–6.
Elder GH, Urquhart AJ, De Salamanca RE, et al. Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda. Lancet. 1985;2:229–33.
Elder GH, Hift RJ, Meissner PN. The acute porphyrias. Lancet. 1997;349:1613–7.
Elder G, Harper P, Badminton M, et al. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis. 2013;36:849–57.
Epstein JH, Tuffanelli DL, Epstein WL. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol. 1973;107:689–98.
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.
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.
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.
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.
Grandchamp B, Phung N, Nordmann Y. Homozygous case of hereditary coproporphyria. Lancet. 1977;2:1348–9.
Grossman ME, Bickers DR, Poh-Fitzpatrick MB, et al. Porphyria cutanea tarda: clinical features and laboratory findings in 40 patients. Am J Med. 1979;67:277–86.
Gschnait FG, Wolff K, Konrad K. Erythropoietic protoprophyria—submicroscopic events during the acute photosensitivity flare. Br J Dermatol. 1975;92:545–57.
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.
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.
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.
Hawk JL, Magnus IA, Parkes A, et al. Deficiency of hepatic coproporphyrinogen oxidase in hereditary coproporphyria. J R Soc Med. 1978;71:775–7.
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.
Hift RJ, Meissner PN, Todd G, et al. Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad Med J. 1993;69:781–6.
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.
Holme SA, Anstey AV, Finlay AY, et al. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. Br J Dermatol. 2006;155:574–81.
Holme SA, Anstey AV, Badminton MN, et al. Serum 25-hydroxyvitamin D in erythropoietic protoporphyria. Br J Dermatol. 2008;159:211–3.
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.
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.
Johnson JA. Durable protection against long-wavelength UV-A radiation and blue light. Arch Dermatol. 1992;128:409.
Katugampola RP, Badminton MN, Finlay AY, et al. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. Br J Dermatol. 2012a;167:901–13.
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. 2012b;167:888–900.
Kaye ET, Levin JA, Blank IH, et al. Efficiency of opaque photoprotective agents in the visible light range. Arch Dermatol. 1991;127:351–5.
Kordac V, Kotal JP, Kalab M. Agents affecting porphyrin formation and secretion: implications for porphyria cutanea tarda treatment. Semin Hematol. 1989;26:16–23.
Kuhnel A, Gross U, Doss MO. Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients. Clin Biochem. 2000;33:465–73.
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.
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.
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.
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.
Marsden RA, Dawber RP. Erythropoietic protoporphyria with onycholysis. Proc R Soc Med. 1977;70:572–4.
Mascaro JM, Herrero C, Lecha M, et al. Uroporphyrinogen-decarboxylase deficiencies: porphyria cutanea tarda and related conditions. Semin Dermatol. 1986;5:115–24.
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.
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.
Murphy GM, Hawk JL, Magnus IA. Late-onset erythropoietic protoporphyria with unusual cutaneous features. Arch Dermatol. 1985;121:1309–12.
Murphy A, Dooley S, Hillary IB, Murphy GM. HCV infection in porphyria cutanea tarda. Lancet. 1993;341:1534–5.
Mustajoki P. Variegate porphyria. Twelve years’ experience in Finland. QJM. 1980;49:191–203.
Norris PG, Baker CS, Roberts JE, Hawk JL. Treatment of erythropoietic protoporphyria with N-acetylcysteine. Arch Dermatol. 1995;131:354–5.
Park AJ, Webster GF, Penne RB, Raber IM. Porphyria cutanea tarda presenting as cicatricial conjunctivitis. Am J Ophthalmol. 2002;134:619–21.
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.
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.
Poh-Fitzpatrick MB. The ‘priming phenomenon’ in the acute phototoxicity of erythropoietic protoporphyria. J Am Acad Dermatol. 1989;21:311.
Poh-Fitzpatrick MB. Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. J Am Acad Dermatol. 1997;36:40–3.
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.
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.
Rank JM, Straka JG, Weimer MK, et al. Hematin therapy in late onset congenital erythropoietic porphyria. Br J Haematol. 1990;75:617–8.
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.
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.
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. 1986a;107:36–42.
Rocchi E, Gibertini P, Cassanelli M, et al. Iron removal therapy in porphyria cutanea tarda: phlebotomy versus slow subcutaneous desferrioxamine infusion. Br J Dermatol. 1986b;114:621–9.
Roelandts R. Photo (chemo) therapy and general management of erythropoietic protoporphyria. Dermatology. 1995;190:330–1.
Ryan EA, Madill GT. Electron microscopy of the skin in erythropoietic protoporphyria. Br J Dermatol. 1968;80:561–70.
Sarkany RPE. The management of porphyria cutanea tarda. Clin Exp Dermatol. 2001;26:225–32.
Sarkany RPE. Making sense of the porphyrias. Photodermatol Photoimmunol Photomed. 2008;24:102–8.
Sarkany RPE, Cox TM. Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and hepatic failure. QJM. 1995;88:541–9.
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.
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.
Sarkell B, Patterson JW. Treatment of porphyria cutanea tarda of end-stage renal disease with erythropoietin. J Am Acad Dermatol. 1993;29:499–500.
Schneider-Yin X, Van Tuyll van Serooskerken AM, Went P, et al. Hepatocellular carcinoma in variegate porphyria: a serious complication. Acta Derm Venereol. 2010;90:512–5.
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.
Shaffrali FC, McDonagh AJ, Messenger AG. Hair darkening in porphyria cutanea tarda. Br J Dermatol. 2002;146:325–9.
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.
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.
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.
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.
Stojeba N, Meyer C, Jeanpierre C, et al. Recovery from a variegate porphyria by a liver transplantation. Liver Transpl. 2004;10:935–8.
Sturrock ED, Meissner PN, Maeder DL, Kirsch RE. Uroporphyrinogen decarboxylase and protoporphyrinogen oxidase in dual porphyria. S Afr Med J. 1989;76:405–8.
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.
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.
The European Porphyria Network. http://www.porphyria-europe.org/.
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.
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.
Van Tuyll van Serooskerken AM, Drögemöller BI, 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.
Von und zu Fraunberg M, Timonen K, et al. Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. Eur J Hum Genet. 2002;10:649–57.
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.
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.
Wahlin S, Stal P, Adam R, et al. Liver transplantation for erythropoietic protoporphyria in Europe. Liver Transpl. 2011;17:1021–6.
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.
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.
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.
Wolff K, Hönigsmann H, Rauschmeier W, et al. Microscopic and fine structural aspects of porphyrias. Acta Derm Venereol Suppl (Stockh). 1982;100:17–28.
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Sarkany, R.P.E. (2015). The Cutaneous Porphyrias. In: Katsambas, A.D., Lotti, T.M., Dessinioti, C., D’Erme, A.M. (eds) European Handbook of Dermatological Treatments. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45139-7_79
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