Familial and sporadic porphyria cutanea tarda clinical and biochemical features and risk factors in 152 patients

Medicine

Volumn 89, Issue 2, 2010, Pages 69-74

  Muñoz Santos, Carlos ^a   Guilabert, Antonio ^a   Moreno, Nemesio ^b   To Figueras, Jordi ^a   Badenas, Celia ^a   Darwich, Esteve ^a   Herrero, Carmen ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUT CATALÀ DE LA SALUT   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

UROPORPHYRINOGEN DECARBOXYLASE;

ADULT; ALCOHOL ABUSE; ARTICLE; BLISTER; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DELAYED DIAGNOSIS; DISEASE CLASSIFICATION; ERYTHROCYTE; FACE; FAMILIAL DISEASE; FEMALE; GENOTYPE; HAND; HEPATITIS C VIRUS; HUMAN; HYPERPIGMENTATION; HYPERTRICHOSIS; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL; PRURITUS; RISK FACTOR; SEX DIFFERENCE; SKIN FRAGILITY; SPAIN; VIRUS INFECTION;

ADULT; AGED; AGED, 80 AND OVER; BLISTER; COHORT STUDIES; DIAGNOSIS, DIFFERENTIAL; ERYTHROCYTES; FEMALE; HEPATITIS C; HUMANS; HYPERPIGMENTATION; HYPERTRICHOSIS; MALE; MIDDLE AGED; PORPHYRIA CUTANEA TARDA; PREVALENCE; RETROSPECTIVE STUDIES; RISK FACTORS; SEX CHARACTERISTICS; SPAIN; UROPORPHYRINOGEN DECARBOXYLASE;

EID: 77952232301     PISSN: 00257974     EISSN: None     Source Type: Journal    
DOI: 10.1097/MD.0b013e3181d50928     Document Type: Article

References (26)

1. Aarsand AK, Boman H, Sandberg S. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. Clin Chem. 2009; 55: 795-803.
2. Badenas C, To-Figueras J, Phillips JD, Warby CA, Munoz C, Herrero C. 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.
3. Bleasel NR, Varigos GA. Porphyria cutanea tarda. Austmlas J Dermatol. 2000; 41: 197-206.
4. Bofl'a MJ, Reed P, Weinkove C, Ead RD. Hypertrichosis as the presenting feature of porphyria cutanea tarda. Clin Exp Dermatol. 1995; 20:62-64.
5. Bonkovsky HL, Poh-Fitzpatrick M, Pimstone N, Obando J, Di Bisceglie A, Tattrie C, Tortorelli K, LeClair P, Mercurio MG, Lambrecht RW. Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in. North America. Hepatology. 1998; 27: 1661-1669. (Pubitemid 28264692)
6. Brady JJ, Jackson HA, Roberts AG, Morgan RR, Whatley SD, Rowlands GL, Darby C, Shudell E, Watson R, Paiker J, Worwood MW, Elder GH. Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. J Invest Dermatol. 2000; 115: 868-874.
7. Bruguera M, Forns X. [Hepatitis C in Spain.] Med Clin (Bare). 2006; 127:113-117.
8. Bygum A, Christiansen L, Petersen NE, Horder M, Thomsen K, Brandrup F. Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. Acta Derm Venereal. 2003; 83:115-120. (Pubitemid 36433954)
9. Cruz-Rojo J, Fontanellas A, Moran-Jimcnez MJ, Navarro-Ordonez S, Garcia-Bravo M, Mendez M, Munoz-Rivero MC, de Salamanca RE. Precipitating/ aggravating factors of porphyria cutanea tarda in Spanish patients. Cell Mol Biol (Noisy-le-grand). 2002; 48:845-852.
10. Elder GH. Porphyria cutanea tarda. Semin Liver Dis. 1998; 18:67-75.
11. Elder GH. Porphyria cutanea tarda and related disorders. In: Kadish KM, Smith KM, Guilard R, eds. The Porphyrin Handboot Medical Aspects of Porphyria. Vol 14. San Diego, CA: Academic Press; 2003: 67-92.
12. Grossman ME, Bickers DR, Poh-Fitzpatrick MB, Deleo VA, Harber LC. Porphyria cutanea tarda. Clinical features and laboratory findings in. 40 patients. Am J Med. 1979; 67: 277-286. (Pubitemid 9239524)
13. Herrero C, Vicente A, Bruguera M, Ercilla MG, Barrera JM, Vidal J, Teres J, Mascara JM, Rodes J. Is hepatitis C virus infection a trigger of porphyria cutanea tarda? Lancet. 1993; 341: 788-789. (Pubitemid 23096287)
14. Koszo F, Moray M, Dobozy A, Simon N. Erythrocyte uroporphyrinogen decarboxylase activity in 80 unrelated patients with porphyria cutanea tarda. Br J Dermatol. 1992; 126: 446-449.
15. Lamon JM, Frykholm BC. Pregnancy and porphyria cutanea tarda. Johns Hopkins Med J. 1979; 145: 235-237.
16. Lim CK, Peters TJ. Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias. Clin Chim Acta. 1984; 139:55-63. (Pubitemid 14145767)
17. Lundvall O, Weinfeld A, Lundin P. Iron storage in porphyria cutanea tarda. Acta. Med Scand. 1970; 1-2: 37-53.
18. McManus J, Blake D, Ratnaike S. An. assay of uroporphyrinogen, decarboxylase in erythrocytes. Clin Chem. 1988; 34: 2355-2357.
19. Mendez M, Rossetti My Batlle AMDC, Parera VE. The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean, population. J Am Acad Dermatol. 2005; 52:417-424.
20. Pascual C, Qarcia-Patos V, Bartralot R, Pedragosa R, Capdevila M, Barbera J, Castells A. Cutaneous pigmentation, only manifestation of porphyria cutanea tarda in a HIV-1 positive patient. Ann Dermatol Venereal. 1996; 123: 262-264. (Pubitemid 26157597)
21. Ramsay CA, Magnus IA, Turnbull A, Baker H. The treatment of porphyria cutanea tarda by venesection. Q J Med. 1974; 43:1-24.
22. Rossmann-Ringdahl I, Olsson R. Porphyria cutanea tarda in a Swedish, population: risk, factors and complications. Acta Derm Venereal. 2005; 85: 337-341. (Pubitemid 41113517)
23. Sarkany RP. The management of porphyria cutanea tarda. Clin Exp Dermatol. 2001; 26: 225-232.
24. Siersema PD, Rademakers LH, Cleton MI, ten Kate FJ, de Bruijn WC, Marx JJ, Wilson JH. The difference in liver pathology between, sporadic and familial forms of porphyria cutanea tarda: the role of iron. J Hepatol. 1995; 23: 259-267.
25. 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: 561-579. (Pubitemid 32052517)
26. Toll A, Celis R, Ozalla MD, Bruguera M, Herrero C, Ercilla MG. The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection. J Eur Acad Dermatol Venereal. 2006; 20: 1201-1206. (Pubitemid 44614615)