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Volumn 52, Issue 12, 2013, Pages 1464-1480

Cutaneous porphyrias part I: Epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRIN; ESTROGEN; HEME; ORAL CONTRACEPTIVE AGENT; PORPHYRIN; PROTOPORPHYRIN; PROTOPORPHYRIN ZINC; UROPORPHYRIN;

EID: 84888057348     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/ijd.12305     Document Type: Article
Times cited : (56)

References (108)
  • 1
    • 48249103159 scopus 로고    scopus 로고
    • Erythropoietic porphyrias: animal models and update in gene-based therapies
    • Richard E, Robert-Richard E, Ged C, et al. Erythropoietic porphyrias: animal models and update in gene-based therapies. Curr Gene Ther 2008; 8: 176-186.
    • (2008) Curr Gene Ther , vol.8 , pp. 176-186
    • Richard, E.1    Robert-Richard, E.2    Ged, C.3
  • 2
    • 0032935239 scopus 로고    scopus 로고
    • The cutaneous porphyrias: a review. The British Photodermatology Group
    • Murphy GM. The cutaneous porphyrias: a review. The British Photodermatology Group. Br J Dermatol 1999; 140: 573-581.
    • (1999) Br J Dermatol , vol.140 , pp. 573-581
    • Murphy, G.M.1
  • 3
    • 0037390449 scopus 로고    scopus 로고
    • Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene
    • D'Amato M, Bonuglia M, Barile S, et al. Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene. Hum Mutat 2003; 21: 448.
    • (2003) Hum Mutat , vol.21 , pp. 448
    • D'Amato, M.1    Bonuglia, M.2    Barile, S.3
  • 6
    • 33644930561 scopus 로고    scopus 로고
    • A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America
    • Poblete-Gutierrez P, Wolff C, Farias R, et al. A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America. Br J Dermatol 2006; 154: 368-371.
    • (2006) Br J Dermatol , vol.154 , pp. 368-371
    • Poblete-Gutierrez, P.1    Wolff, C.2    Farias, R.3
  • 7
    • 0030899582 scopus 로고    scopus 로고
    • Central-facial papular lymphangiectases: an uncommon manifestation of porphyria
    • Stone MS. Central-facial papular lymphangiectases: an uncommon manifestation of porphyria. J Am Acad Dermatol 1997; 36: 493-495.
    • (1997) J Am Acad Dermatol , vol.36 , pp. 493-495
    • Stone, M.S.1
  • 8
    • 4544265363 scopus 로고    scopus 로고
    • A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family
    • Hift RJ, Meissner D, Meissner PN. A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family. Br J Dermatol 2004; 151: 465-471.
    • (2004) Br J Dermatol , vol.151 , pp. 465-471
    • Hift, R.J.1    Meissner, D.2    Meissner, P.N.3
  • 9
    • 0031667417 scopus 로고    scopus 로고
    • Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria
    • Frank J, Jugert FK, Breitkopf C, et al. Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. Am J Med Genet 1998; 79: 22-26.
    • (1998) Am J Med Genet , vol.79 , pp. 22-26
    • Frank, J.1    Jugert, F.K.2    Breitkopf, C.3
  • 10
    • 0035101824 scopus 로고    scopus 로고
    • Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile
    • Frank J, Aita VM, Ahmad W, et al. Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. Hum Hered 2001; 51: 160-168.
    • (2001) Hum Hered , vol.51 , pp. 160-168
    • Frank, J.1    Aita, V.M.2    Ahmad, W.3
  • 12
    • 0035346151 scopus 로고    scopus 로고
    • Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients
    • von und zu Fraunberg M, Tenhunen R, Kauppinen R. Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients. Mol Med 2001; 7: 320-328.
    • (2001) Mol Med , vol.7 , pp. 320-328
    • von und zu Fraunberg, M.1    Tenhunen, R.2    Kauppinen, R.3
  • 13
    • 0029132314 scopus 로고
    • Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins
    • Da Silva V, Simonin S, Deybach JC, et al. Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins. Clin Chim Acta 1995; 238: 163-168.
    • (1995) Clin Chim Acta , vol.238 , pp. 163-168
    • Da Silva, V.1    Simonin, S.2    Deybach, J.C.3
  • 14
    • 69249160325 scopus 로고    scopus 로고
    • Enzyme antioxidant defences and oxidative damage in red blood cells of variegate porphyria patients
    • Ferrer MD, Tauler P, Sureda A, et al. Enzyme antioxidant defences and oxidative damage in red blood cells of variegate porphyria patients. Redox Rep 2009; 14: 69-74.
    • (2009) Redox Rep , vol.14 , pp. 69-74
    • Ferrer, M.D.1    Tauler, P.2    Sureda, A.3
  • 15
    • 33747359322 scopus 로고    scopus 로고
    • Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection
    • Lecha M, Badenas C, Puig S, et al. Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. J Eur Acad Dermatol Venereol 2006; 20: 974-979.
    • (2006) J Eur Acad Dermatol Venereol , vol.20 , pp. 974-979
    • Lecha, M.1    Badenas, C.2    Puig, S.3
  • 16
    • 0031889894 scopus 로고    scopus 로고
    • Hereditary coproporphyria
    • Martasek P. Hereditary coproporphyria. Semin Liver Dis 1998; 18: 25-32.
    • (1998) Semin Liver Dis , vol.18 , pp. 25-32
    • Martasek, P.1
  • 17
    • 48249133340 scopus 로고    scopus 로고
    • Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation
    • Gorman CS, Gill D, Darby C, et al. Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation. Ir Med J 2008; 101: 125.
    • (2008) Ir Med J , vol.101 , pp. 125
    • Gorman, C.S.1    Gill, D.2    Darby, C.3
  • 18
    • 0033741406 scopus 로고    scopus 로고
    • Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients
    • Kuhnel A, Gross U, Doss MO. Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients. Clin Biochem 2000; 33: 465-473.
    • (2000) Clin Biochem , vol.33 , pp. 465-473
    • Kuhnel, A.1    Gross, U.2    Doss, M.O.3
  • 19
    • 0035016319 scopus 로고    scopus 로고
    • Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria
    • Lamoril J, Puy H, Whatley SD, et al. Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. Am J Hum Genet 2001; 68: 1130-1138.
    • (2001) Am J Hum Genet , vol.68 , pp. 1130-1138
    • Lamoril, J.1    Puy, H.2    Whatley, S.D.3
  • 20
    • 25144479909 scopus 로고    scopus 로고
    • Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family
    • Allen KR, Whatley SD, Degg TJ, et al. Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family. J Inherit Metab Dis 2005; 28: 779-785.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 779-785
    • Allen, K.R.1    Whatley, S.D.2    Degg, T.J.3
  • 22
    • 64149093515 scopus 로고    scopus 로고
    • Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies
    • Aarsand AK, Boman H, Sandberg S. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. Clin Chem 2009; 55: 795-803.
    • (2009) Clin Chem , vol.55 , pp. 795-803
    • Aarsand, A.K.1    Boman, H.2    Sandberg, S.3
  • 23
    • 65249118701 scopus 로고    scopus 로고
    • Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives
    • 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: 346-353.
    • (2009) Clin Genet , vol.75 , pp. 346-353
    • Badenas, C.1    To-Figueras, J.2    Phillips, J.D.3
  • 24
    • 16544392858 scopus 로고    scopus 로고
    • The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene
    • 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; 13: 372-379.
    • (2004) Exp Dermatol , vol.13 , pp. 372-379
    • Poblete-Gutierrez, P.1    Mendez, M.2    Wiederholt, T.3
  • 25
    • 38149093239 scopus 로고    scopus 로고
    • Porphyria cutanea tarda as the most common porphyria
    • Bulat V, Lugovic L, Situm M, et al. Porphyria cutanea tarda as the most common porphyria. Acta Dermatovenerol Croat 2007; 15: 254-263.
    • (2007) Acta Dermatovenerol Croat , vol.15 , pp. 254-263
    • Bulat, V.1    Lugovic, L.2    Situm, M.3
  • 27
    • 0036164415 scopus 로고    scopus 로고
    • Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency
    • 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: 419-426.
    • (2002) Dig Dis Sci , vol.47 , pp. 419-426
    • Egger, N.G.1    Goeger, D.E.2    Payne, D.A.3
  • 28
    • 23444455257 scopus 로고    scopus 로고
    • Porphyria cutanea tarda in a Swedish population: risk factors and complications
    • Rossmann-Ringdahl I, Olsson R. Porphyria cutanea tarda in a Swedish population: risk factors and complications. Acta Derm Venereol 2005; 85: 337-341.
    • (2005) Acta Derm Venereol , vol.85 , pp. 337-341
    • Rossmann-Ringdahl, I.1    Olsson, R.2
  • 29
    • 0032828295 scopus 로고    scopus 로고
    • Alcohol intake and porphyria cutanea tarda
    • Elder GH. Alcohol intake and porphyria cutanea tarda. Clin Dermatol 1999; 17: 431-436.
    • (1999) Clin Dermatol , vol.17 , pp. 431-436
    • Elder, G.H.1
  • 30
    • 47149090963 scopus 로고    scopus 로고
    • Porphyria cutanea tarda and liver disease. A retrospective analysis of 17 cases from a single centre and review of the literature
    • Cassiman D, Vannoote J, Roelandts R, et al. Porphyria cutanea tarda and liver disease. A retrospective analysis of 17 cases from a single centre and review of the literature. Acta Gastroenterol Belg 2008; 71: 237-242.
    • (2008) Acta Gastroenterol Belg , vol.71 , pp. 237-242
    • Cassiman, D.1    Vannoote, J.2    Roelandts, R.3
  • 31
    • 0032030888 scopus 로고    scopus 로고
    • Porphyria cutanea tarda of the toxic and sporadic varieties
    • De Matteis F. Porphyria cutanea tarda of the toxic and sporadic varieties. Clin Dermatol 1998; 16: 265-275.
    • (1998) Clin Dermatol , vol.16 , pp. 265-275
    • De Matteis, F.1
  • 33
    • 0031599775 scopus 로고    scopus 로고
    • Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload
    • Elder GH, Worwood M. Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload. Hepatology 1998; 27: 289-291.
    • (1998) Hepatology , vol.27 , pp. 289-291
    • Elder, G.H.1    Worwood, M.2
  • 35
    • 0036843067 scopus 로고    scopus 로고
    • Human hereditary hepatic porphyrias
    • Nordmann Y, Puy H. Human hereditary hepatic porphyrias. Clin Chim Acta 2002; 325: 17-37.
    • (2002) Clin Chim Acta , vol.325 , pp. 17-37
    • Nordmann, Y.1    Puy, H.2
  • 36
    • 0141451824 scopus 로고    scopus 로고
    • Prevalence of hepatitis C virus infection in porphyria cutanea tarda
    • Fargion S, Fracanzani AL. Prevalence of hepatitis C virus infection in porphyria cutanea tarda. J Hepatol 2003; 39: 635-638.
    • (2003) J Hepatol , vol.39 , pp. 635-638
    • Fargion, S.1    Fracanzani, A.L.2
  • 37
    • 0032793401 scopus 로고    scopus 로고
    • Porphyria cutanea tarda and hepatitis C virus: a case-control study and meta-analysis of the literature
    • Chuang TY, Brashear R, Lewis C. Porphyria cutanea tarda and hepatitis C virus: a case-control study and meta-analysis of the literature. J Am Acad Dermatol 1999; 41: 31-36.
    • (1999) J Am Acad Dermatol , vol.41 , pp. 31-36
    • Chuang, T.Y.1    Brashear, R.2    Lewis, C.3
  • 38
    • 0141674800 scopus 로고    scopus 로고
    • Prevalence of hepatitis C virus infection in porphyria cutanea tarda: systematic review and meta-analysis
    • Gisbert JP, Garcia-Buey L, Pajares JM, et al. Prevalence of hepatitis C virus infection in porphyria cutanea tarda: systematic review and meta-analysis. J Hepatol 2003; 39: 620-627.
    • (2003) J Hepatol , vol.39 , pp. 620-627
    • Gisbert, J.P.1    Garcia-Buey, L.2    Pajares, J.M.3
  • 39
    • 0030806567 scopus 로고    scopus 로고
    • Role of viral infection in porphyria cutanea tarda
    • Lim HW. Role of viral infection in porphyria cutanea tarda. Photodermatol Photoimmunol Photomed 1997; 13: 75-77.
    • (1997) Photodermatol Photoimmunol Photomed , vol.13 , pp. 75-77
    • Lim, H.W.1
  • 40
    • 20244373009 scopus 로고    scopus 로고
    • Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria
    • Gomi H, Hatanaka K, Miura T, et al. Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria. Arch Dermatol 1997; 133: 1170-1171.
    • (1997) Arch Dermatol , vol.133 , pp. 1170-1171
    • Gomi, H.1    Hatanaka, K.2    Miura, T.3
  • 41
    • 0031214425 scopus 로고    scopus 로고
    • Ascorbic acid deficiency in porphyria cutanea tarda
    • Sinclair PR, Gorman N, Shedlofsky SI, et al. Ascorbic acid deficiency in porphyria cutanea tarda. J Lab Clin Med 1997; 130: 197-201.
    • (1997) J Lab Clin Med , vol.130 , pp. 197-201
    • Sinclair, P.R.1    Gorman, N.2    Shedlofsky, S.I.3
  • 42
    • 0346339866 scopus 로고    scopus 로고
    • Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda
    • Gardlo K, Selimovic D, Bolsen K, et al. Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda. Exp Dermatol 2003; 12: 843-848.
    • (2003) Exp Dermatol , vol.12 , pp. 843-848
    • Gardlo, K.1    Selimovic, D.2    Bolsen, K.3
  • 43
    • 0034535094 scopus 로고    scopus 로고
    • Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
    • Christiansen L, Bygum A, Jensen A, et al. Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda. Hum Genet 2000; 107: 612-614.
    • (2000) Hum Genet , vol.107 , pp. 612-614
    • Christiansen, L.1    Bygum, A.2    Jensen, A.3
  • 44
    • 84888053831 scopus 로고    scopus 로고
    • American Porphyria Foundation History of Porphyria. The American Porphyria Foundation, Houston, (Accessed June 21, 2013).
    • American Porphyria Foundation History of Porphyria. The American Porphyria Foundation, Houston, 2010. http://www.porphyriafoundation.com/about-porphyria/history-of-porphyria. (Accessed June 21, 2013).
    • (2010)
  • 45
    • 0032913461 scopus 로고    scopus 로고
    • Hexachlorobenzene and porphyria cutanea tarda
    • Kim JJ, Lim HW. Hexachlorobenzene and porphyria cutanea tarda. Arch Dermatol 1999; 135: 459-460.
    • (1999) Arch Dermatol , vol.135 , pp. 459-460
    • Kim, J.J.1    Lim, H.W.2
  • 46
    • 0032831751 scopus 로고    scopus 로고
    • Clinical spectrum of porphyria cutanea tarda
    • Brazzelli V, Chiesa MG, Vassallo C, et al. Clinical spectrum of porphyria cutanea tarda. Haematologica 1999; 84: 276-277.
    • (1999) Haematologica , vol.84 , pp. 276-277
    • Brazzelli, V.1    Chiesa, M.G.2    Vassallo, C.3
  • 47
    • 0031733035 scopus 로고    scopus 로고
    • Porphyria cutanea tarda induced by the use of pravastatin
    • Schindl A, Trautinger F, Pernerstorfer-Schon H, et al. Porphyria cutanea tarda induced by the use of pravastatin. Arch Dermatol 1998; 134: 1305-1306.
    • (1998) Arch Dermatol , vol.134 , pp. 1305-1306
    • Schindl, A.1    Trautinger, F.2    Pernerstorfer-Schon, H.3
  • 48
    • 0033928306 scopus 로고    scopus 로고
    • Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review
    • 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: 645-652.
    • (2000) J Am Acad Dermatol , vol.42 , pp. 645-652
    • Shieh, S.1    Cohen, J.L.2    Lim, H.W.3
  • 50
    • 0033092209 scopus 로고    scopus 로고
    • Hepatocellular carcinoma presenting with acquired porphyria: a case report and review of the literature
    • Huang WS, Liao LY, Wang CS, et al. Hepatocellular carcinoma presenting with acquired porphyria: a case report and review of the literature. Changgeng Yi Xue Za Zhi 1999; 22: 111-116.
    • (1999) Changgeng Yi Xue Za Zhi , vol.22 , pp. 111-116
    • Huang, W.S.1    Liao, L.Y.2    Wang, C.S.3
  • 51
    • 0033152845 scopus 로고    scopus 로고
    • Primary liver cancer, other malignancies, and mortality risks following porphyria: a cohort study in Denmark and Sweden
    • Linet MS, Gridley G, Nyren 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: 1010-1015.
    • (1999) Am J Epidemiol , vol.149 , pp. 1010-1015
    • Linet, M.S.1    Gridley, G.2    Nyren, O.3
  • 52
    • 3142624620 scopus 로고    scopus 로고
    • Hepatocellular carcinoma risk in patients with porphyria cutanea tarda
    • Gisbert JP, Garcia-Buey L, Alonso A, et al. Hepatocellular carcinoma risk in patients with porphyria cutanea tarda. Eur J Gastroenterol Hepatol 2004; 16: 689-692.
    • (2004) Eur J Gastroenterol Hepatol , vol.16 , pp. 689-692
    • Gisbert, J.P.1    Garcia-Buey, L.2    Alonso, A.3
  • 55
    • 66749117136 scopus 로고    scopus 로고
    • Dermatitis artefacta in sporadic sclerodermoid hepatitis C virus-associated porphyria cutanea tarda
    • Giunta A, Demin F, Campione E, et al. Dermatitis artefacta in sporadic sclerodermoid hepatitis C virus-associated porphyria cutanea tarda. J Eur Acad Dermatol Venereol 2009; 23: 849-850.
    • (2009) J Eur Acad Dermatol Venereol , vol.23 , pp. 849-850
    • Giunta, A.1    Demin, F.2    Campione, E.3
  • 56
    • 4944237711 scopus 로고    scopus 로고
    • Sight threatening complications in porphyria cutanea tarda
    • Zaborowski AG, Paulson GH, Peters AL. Sight threatening complications in porphyria cutanea tarda. Eye (Lond) 2004; 18: 949-950.
    • (2004) Eye (Lond) , vol.18 , pp. 949-950
    • Zaborowski, A.G.1    Paulson, G.H.2    Peters, A.L.3
  • 57
    • 0026739205 scopus 로고
    • Photodamage of the conjunctiva in patients with porphyria cutanea tarda
    • Hammer H, Korom I. Photodamage of the conjunctiva in patients with porphyria cutanea tarda. Br J Ophthalmol 1992; 76: 592-593.
    • (1992) Br J Ophthalmol , vol.76 , pp. 592-593
    • Hammer, H.1    Korom, I.2
  • 58
    • 0027970445 scopus 로고
    • High-performance thin-layer chromatography of free porphyrins for diagnosis of porphyria
    • Lai CK, Lam CW, Chan YW. High-performance thin-layer chromatography of free porphyrins for diagnosis of porphyria. Clin Chem 1994; 40: 2026-2029.
    • (1994) Clin Chem , vol.40 , pp. 2026-2029
    • Lai, C.K.1    Lam, C.W.2    Chan, Y.W.3
  • 59
    • 0029947165 scopus 로고    scopus 로고
    • Caterpillar bodies of porphyria cutanea tarda ultrastructurally represent a unique arrangement of colloid and basement membrane bodies
    • Raso DS, Greene WB, Maize JC, et al. Caterpillar bodies of porphyria cutanea tarda ultrastructurally represent a unique arrangement of colloid and basement membrane bodies. Am J Dermatopathol 1996; 18: 24-29.
    • (1996) Am J Dermatopathol , vol.18 , pp. 24-29
    • Raso, D.S.1    Greene, W.B.2    Maize, J.C.3
  • 60
    • 0027311098 scopus 로고
    • Is porphyria cutanea tarda a paraneoplastic disorder?
    • Poh-Fitzpatrick MB. Is porphyria cutanea tarda a paraneoplastic disorder? Clin Dermatol 1993; 11: 119-124.
    • (1993) Clin Dermatol , vol.11 , pp. 119-124
    • Poh-Fitzpatrick, M.B.1
  • 61
    • 47749093935 scopus 로고    scopus 로고
    • Pseudoporphyria or porphyria cutanea tarda? Diagnostic and treatment difficulties
    • Fevang SA, Kroon S, Skadberg O. Pseudoporphyria or porphyria cutanea tarda? Diagnostic and treatment difficulties. Acta Derm Venereol 2008; 88: 426-427.
    • (2008) Acta Derm Venereol , vol.88 , pp. 426-427
    • Fevang, S.A.1    Kroon, S.2    Skadberg, O.3
  • 62
    • 0029084653 scopus 로고
    • Enriquez de Salamanca R. Correlation between levels of free and protein-bound plasma porphyrin and urinary porphyrins in porphyria cutanea tarda
    • Moran MJ, Fontanellas A, Santos JL. Enriquez de Salamanca R. Correlation between levels of free and protein-bound plasma porphyrin and urinary porphyrins in porphyria cutanea tarda. Int J Biochem Cell Biol 1995; 27: 585-588.
    • (1995) Int J Biochem Cell Biol , vol.27 , pp. 585-588
    • Moran, M.J.1    Fontanellas, A.2    Santos, J.L.3
  • 63
    • 8344277468 scopus 로고    scopus 로고
    • Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern
    • Armstrong DK, Sharpe PC, Chambers CR, et al. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Br J Dermatol 2004; 151: 920-923.
    • (2004) Br J Dermatol , vol.151 , pp. 920-923
    • Armstrong, D.K.1    Sharpe, P.C.2    Chambers, C.R.3
  • 64
    • 0344863094 scopus 로고    scopus 로고
    • Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda
    • Camagna A, Del Duca P, Petrinelli P, et al. Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. Am J Med Sci 1998; 315: 59-62.
    • (1998) Am J Med Sci , vol.315 , pp. 59-62
    • Camagna, A.1    Del Duca, P.2    Petrinelli, P.3
  • 66
    • 0036051257 scopus 로고    scopus 로고
    • Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria
    • Morris SD, Mason NG, Elder GH, et al. Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria. Br J Dermatol 2002; 147: 572-574.
    • (2002) Br J Dermatol , vol.147 , pp. 572-574
    • Morris, S.D.1    Mason, N.G.2    Elder, G.H.3
  • 67
    • 45749102013 scopus 로고    scopus 로고
    • Molecular characterization of erythropoietic protoporphyria in South Africa
    • Parker M, Corrigall AV, Hift RJ, et al. Molecular characterization of erythropoietic protoporphyria in South Africa. Br J Dermatol 2008; 159: 182-191.
    • (2008) Br J Dermatol , vol.159 , pp. 182-191
    • Parker, M.1    Corrigall, A.V.2    Hift, R.J.3
  • 69
    • 84869138910 scopus 로고    scopus 로고
    • Photosensitivity disorders in children: part I
    • Chantorn R, Lim HW, Shwayder TA, eds. 1093. e1-18 ; quiz 1111-2.
    • Chantorn R, Lim HW, Shwayder TA. Photosensitivity disorders in children: part I. In: Chantorn R, Lim HW, Shwayder TA, eds. J Am Acad Dermatol 2012; 67: 1093. e1-18 ; quiz 1111-2.
    • (2012) J Am Acad Dermatol , vol.67
    • Chantorn, R.1    Lim, H.W.2    Shwayder, T.A.3
  • 70
    • 10644272377 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria presenting with liver failure in adulthood
    • Reisenauer AK, Soon SL, Lee KK, et al. Erythropoietic protoporphyria presenting with liver failure in adulthood. Dermatology 2005; 210: 72-73.
    • (2005) Dermatology , vol.210 , pp. 72-73
    • Reisenauer, A.K.1    Soon, S.L.2    Lee, K.K.3
  • 71
    • 0035675628 scopus 로고    scopus 로고
    • Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells
    • Aplin C, Whatley SD, Thompson P, et al. Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. J Invest Dermatol 2001; 117: 1647-1649.
    • (2001) J Invest Dermatol , vol.117 , pp. 1647-1649
    • Aplin, C.1    Whatley, S.D.2    Thompson, P.3
  • 72
    • 34347241782 scopus 로고    scopus 로고
    • Liver disease in erythropoietic protoporphyria: insights and implications for management
    • Anstey AV, Hift RJ. Liver disease in erythropoietic protoporphyria: insights and implications for management. Gut 2007; 56: 1009-1018.
    • (2007) Gut , vol.56 , pp. 1009-1018
    • Anstey, A.V.1    Hift, R.J.2
  • 73
    • 36248996414 scopus 로고    scopus 로고
    • Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria
    • Whatley SD, Mason NG, Holme SA, et al. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. J Invest Dermatol 2007; 127: 2790-2794.
    • (2007) J Invest Dermatol , vol.127 , pp. 2790-2794
    • Whatley, S.D.1    Mason, N.G.2    Holme, S.A.3
  • 74
    • 58149263117 scopus 로고    scopus 로고
    • A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria
    • Li C, Di Pierro E, Brancaleoni V, et al. A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria. Clin Chem Lab Med 2009; 47: 44-46.
    • (2009) Clin Chem Lab Med , vol.47 , pp. 44-46
    • Li, C.1    Di Pierro, E.2    Brancaleoni, V.3
  • 75
    • 29244454253 scopus 로고    scopus 로고
    • Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
    • 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.
    • (2006) Am J Hum Genet , vol.78 , pp. 2-14
    • Gouya, L.1    Martin-Schmitt, C.2    Robreau, A.M.3
  • 76
    • 33845536988 scopus 로고    scopus 로고
    • Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria
    • Di Pierro E, Brancaleoni V, Moriondo V, et al. Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria. Clin Genet 2007; 71: 84-88.
    • (2007) Clin Genet , vol.71 , pp. 84-88
    • Di Pierro, E.1    Brancaleoni, V.2    Moriondo, V.3
  • 77
    • 33747033382 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life
    • 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: 574-581.
    • (2006) Br J Dermatol , vol.155 , pp. 574-581
    • Holme, S.A.1    Anstey, A.V.2    Finlay, A.Y.3
  • 78
    • 0032525082 scopus 로고    scopus 로고
    • Examination of ferrochelatase mutations that cause erythropoietic protoporphyria
    • Sellers VM, Dailey TA, Dailey HA. Examination of ferrochelatase mutations that cause erythropoietic protoporphyria. Blood 1998; 91: 3980-3985.
    • (1998) Blood , vol.91 , pp. 3980-3985
    • Sellers, V.M.1    Dailey, T.A.2    Dailey, H.A.3
  • 79
    • 37049019507 scopus 로고    scopus 로고
    • Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria
    • Holme SA, Worwood M, Anstey AV, et al. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. Blood 2007; 110: 4108-4110.
    • (2007) Blood , vol.110 , pp. 4108-4110
    • Holme, S.A.1    Worwood, M.2    Anstey, A.V.3
  • 80
    • 34548837512 scopus 로고    scopus 로고
    • Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease
    • Herrero C, To-Figueras J, Badenas C, et al. Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. Arch Dermatol 2007; 143: 1125-1129.
    • (2007) Arch Dermatol , vol.143 , pp. 1125-1129
    • Herrero, C.1    To-Figueras, J.2    Badenas, C.3
  • 81
    • 0032806627 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria with fatal liver failure
    • Ishibashi A, Ogata R, Sakisaka S, et al. Erythropoietic protoporphyria with fatal liver failure. J Gastroenterol 1999; 34: 405-409.
    • (1999) J Gastroenterol , vol.34 , pp. 405-409
    • Ishibashi, A.1    Ogata, R.2    Sakisaka, S.3
  • 82
    • 0030911173 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria
    • Cox TM. Erythropoietic protoporphyria. J Inherit Metab Dis 1997; 20: 258-269.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 258-269
    • Cox, T.M.1
  • 83
    • 35648929413 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria with eye complications
    • Tsuboi H, Yonemoto K, Katsuoka K. Erythropoietic protoporphyria with eye complications. J Dermatol 2007; 34: 790-794.
    • (2007) J Dermatol , vol.34 , pp. 790-794
    • Tsuboi, H.1    Yonemoto, K.2    Katsuoka, K.3
  • 84
    • 0033774171 scopus 로고    scopus 로고
    • An unusual case of purpuric erythropoietic protoporphyria
    • Patel GK, Weston J, Derrick EK, et al. An unusual case of purpuric erythropoietic protoporphyria. Clin Exp Dermatol 2000; 25: 406-408.
    • (2000) Clin Exp Dermatol , vol.25 , pp. 406-408
    • Patel, G.K.1    Weston, J.2    Derrick, E.K.3
  • 85
    • 33847136422 scopus 로고    scopus 로고
    • The difficult clinical diagnosis of erythropoietic protoporphyria
    • Wahlin S, Floderus Y, Ros AM, et al. The difficult clinical diagnosis of erythropoietic protoporphyria. Physiol Res 2006; 55(Suppl. 2): S155-S157.
    • (2006) Physiol Res , vol.55 , Issue.SUPPL. 2
    • Wahlin, S.1    Floderus, Y.2    Ros, A.M.3
  • 86
    • 0033856761 scopus 로고    scopus 로고
    • Vascular changes in erythropoietic protoporphyria: histopathologic and immunohistochemical study
    • Timonen K, Kariniemi AL, Niemi KM, et al. Vascular changes in erythropoietic protoporphyria: histopathologic and immunohistochemical study. J Am Acad Dermatol 2000; 43: 489-497.
    • (2000) J Am Acad Dermatol , vol.43 , pp. 489-497
    • Timonen, K.1    Kariniemi, A.L.2    Niemi, K.M.3
  • 88
    • 33644820437 scopus 로고    scopus 로고
    • Atypical red cell inclusions in congenital erythropoietic porphyria
    • Merino A, To-Figueras J, Herrero C. Atypical red cell inclusions in congenital erythropoietic porphyria. Br J Haematol 2006; 132: 124.
    • (2006) Br J Haematol , vol.132 , pp. 124
    • Merino, A.1    To-Figueras, J.2    Herrero, C.3
  • 89
    • 67449156368 scopus 로고    scopus 로고
    • Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype
    • Ged C, Moreau-Gaudry F, Richard E, et al. Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype. Cell Mol Biol (Noisy-le-grand) 2009; 55: 53-60.
    • (2009) Cell Mol Biol (Noisy-le-grand) , vol.55 , pp. 53-60
    • Ged, C.1    Moreau-Gaudry, F.2    Richard, E.3
  • 90
    • 0035103547 scopus 로고    scopus 로고
    • Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria
    • Solis C, Aizencang GI, Astrin KH, et al. Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest 2001; 107: 753-762.
    • (2001) J Clin Invest , vol.107 , pp. 753-762
    • Solis, C.1    Aizencang, G.I.2    Astrin, K.H.3
  • 91
    • 0028876657 scopus 로고
    • Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene
    • Xu W, Warner CA, Desnick RJ. Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. J Clin Invest 1995; 95: 905-912.
    • (1995) J Clin Invest , vol.95 , pp. 905-912
    • Xu, W.1    Warner, C.A.2    Desnick, R.J.3
  • 92
    • 0029928277 scopus 로고    scopus 로고
    • Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene
    • Xu W, Astrin KH, Desnick RJ. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. Hum Mutat 1996; 7: 187-192.
    • (1996) Hum Mutat , vol.7 , pp. 187-192
    • Xu, W.1    Astrin, K.H.2    Desnick, R.J.3
  • 95
    • 0024425168 scopus 로고
    • Corneal and conjunctival changes in congenital erythropoietic porphyria
    • Ueda S, Rao GN, LoCascio JA, et al. Corneal and conjunctival changes in congenital erythropoietic porphyria. Cornea 1989; 8: 286-294.
    • (1989) Cornea , vol.8 , pp. 286-294
    • Ueda, S.1    Rao, G.N.2    LoCascio, J.A.3
  • 96
    • 0035078563 scopus 로고    scopus 로고
    • Ocular involvement in congenital erytropoietic porphyria (Gunther's disease): cytopathological evaluation of conjunctival and corneal changes
    • Hillenkamp J, Reinhard T, Fritsch C, et al. Ocular involvement in congenital erytropoietic porphyria (Gunther's disease): cytopathological evaluation of conjunctival and corneal changes. Br J Ophthalmol 2001; 85: 371.
    • (2001) Br J Ophthalmol , vol.85 , pp. 371
    • Hillenkamp, J.1    Reinhard, T.2    Fritsch, C.3
  • 97
    • 0037244868 scopus 로고    scopus 로고
    • Congenital erythropoietic porphyria (Gunther's disease): two cases with very early prenatal manifestation and cystic hygroma
    • Pannier E, Viot G, Aubry MC, et al. Congenital erythropoietic porphyria (Gunther's disease): two cases with very early prenatal manifestation and cystic hygroma. Prenat Diagn 2003; 23: 25-30.
    • (2003) Prenat Diagn , vol.23 , pp. 25-30
    • Pannier, E.1    Viot, G.2    Aubry, M.C.3
  • 98
    • 0035891464 scopus 로고    scopus 로고
    • Diseases associated with photosensitivity
    • Murphy GM. Diseases associated with photosensitivity. J Photochem Photobiol, B 2001; 64: 93-98.
    • (2001) J Photochem Photobiol, B , vol.64 , pp. 93-98
    • Murphy, G.M.1
  • 99
    • 0023896868 scopus 로고
    • New dual form of porphyria
    • Doss M. New dual form of porphyria. Lancet 1988; i: 945-946.
    • (1988) Lancet , vol.1 , pp. 945-946
    • Doss, M.1
  • 100
    • 0031892865 scopus 로고    scopus 로고
    • Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology
    • Bonkovsky HL, Barnard GF. Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology. Semin Liver Dis 1998; 18: 57-65.
    • (1998) Semin Liver Dis , vol.18 , pp. 57-65
    • Bonkovsky, H.L.1    Barnard, G.F.2
  • 101
    • 0033638582 scopus 로고    scopus 로고
    • Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection
    • Martinelli AL, Zago MA, Roselino AM, et al. Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. Am J Gastroenterol 2000; 95: 3516-3521.
    • (2000) Am J Gastroenterol , vol.95 , pp. 3516-3521
    • Martinelli, A.L.1    Zago, M.A.2    Roselino, A.M.3
  • 102
    • 0034923034 scopus 로고    scopus 로고
    • C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients
    • Tannapfel A, Stolzel U, Kostler E, et al. C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients. Virchows Arch 2001; 439: 1-5.
    • (2001) Virchows Arch , vol.439 , pp. 1-5
    • Tannapfel, A.1    Stolzel, U.2    Kostler, E.3
  • 103
    • 12344254822 scopus 로고    scopus 로고
    • Porphyrias
    • Kauppinen R. Porphyrias. Lancet 2005; 365: 241-252.
    • (2005) Lancet , vol.365 , pp. 241-252
    • Kauppinen, R.1
  • 105
    • 33749234364 scopus 로고    scopus 로고
    • Modern diagnosis and management of the porphyrias
    • Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol 2006; 135: 281-292.
    • (2006) Br J Haematol , vol.135 , pp. 281-292
    • Sassa, S.1
  • 106
    • 0034679250 scopus 로고    scopus 로고
    • Diagnosis and management of porphyria
    • Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ 2000; 320: 1647-1651.
    • (2000) BMJ , vol.320 , pp. 1647-1651
    • Thadani, H.1    Deacon, A.2    Peters, T.3
  • 107
    • 19444372706 scopus 로고    scopus 로고
    • Molecular mechanisms of dominant expression in porphyria
    • Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis 2005; 28: 277-286.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 277-286
    • Badminton, M.N.1    Elder, G.H.2
  • 108
    • 0032031006 scopus 로고    scopus 로고
    • The biochemistry of heme synthesis in porphyria and in the porphyrinurias
    • Moore MR. The biochemistry of heme synthesis in porphyria and in the porphyrinurias. Clin Dermatol 1998; 16: 203-223.
    • (1998) Clin Dermatol , vol.16 , pp. 203-223
    • Moore, M.R.1


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