Porphyria cutanea tarda
- PMID: 9516680
- DOI: 10.1055/s-2007-1007142
Porphyria cutanea tarda
Abstract
Porphyria cutanea tarda (PCT) is a skin disease that results from decreased activity of uroporphyrinogen decarboxylase (UROD). About 80% of patients have the sporadic (type I) form in which UROD deficiency is restricted to the liver. Others have familial (type II) PCT in which mutations in the UROD gene are inherited in an autosomal dominant pattern with low clinical penetrance. PCT may also follow exposure to porphyrogenic chemicals. Clinically overt PCT (types I and II) is provoked by liver cell injury, particularly when associated with alcohol abuse, hepatitis C infection, or estrogens. Hepatic iron overload is common, depletion of iron stores produces remission, and their replenishment leads to relapse. In PCT, hepatic UROD is inactivated by a process targeted at its catalytic site, which is iron-dependent, requires a heme precursor, and may be accelerated by induction of cytochrome P450s. Susceptibility to develop PCT in response to common causes of liver injury may be determined by co-inheritance of genes that regulate components of this inactivation process.
Similar articles
-
Porphyria cutanea tarda--when skin meets liver.Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):735-45. doi: 10.1016/j.bpg.2010.07.002. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955974 Review.
-
[Pathogenesis of porphyria cutanea tarda].Orv Hetil. 2000 Apr 2;141(14):709-13. Orv Hetil. 2000. PMID: 10803012 Review. Hungarian.
-
Hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda patients: the influence of virus C infection.Hepatology. 1998 Feb;27(2):584-9. doi: 10.1002/hep.510270237. Hepatology. 1998. PMID: 9462661
-
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.Br J Dermatol. 2007 Sep;157(3):501-7. doi: 10.1111/j.1365-2133.2007.08064.x. Epub 2007 Jul 11. Br J Dermatol. 2007. PMID: 17627795
-
The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.Exp Dermatol. 2004 Jun;13(6):372-9. doi: 10.1111/j.0906-6705.2004.00163.x. Exp Dermatol. 2004. PMID: 15186324
Cited by
-
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.Clin Genet. 2009 Apr;75(4):346-53. doi: 10.1111/j.1399-0004.2009.01153.x. Clin Genet. 2009. PMID: 19419417 Free PMC article.
-
A mouse model of familial porphyria cutanea tarda.Proc Natl Acad Sci U S A. 2001 Jan 2;98(1):259-64. doi: 10.1073/pnas.98.1.259. Proc Natl Acad Sci U S A. 2001. PMID: 11134514 Free PMC article.
-
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.Am J Hum Genet. 1998 Nov;63(5):1363-75. doi: 10.1086/302119. Am J Hum Genet. 1998. PMID: 9792863 Free PMC article.
-
A skin disease, a blood disease or something in between? An exploratory focus group study of patients' experiences with porphyria cutanea tarda.Br J Dermatol. 2015 Jan;172(1):223-9. doi: 10.1111/bjd.13198. Epub 2014 Nov 27. Br J Dermatol. 2015. PMID: 24958197 Free PMC article.
-
Porphyria Cutanea Tarda Masquerading as Epidermolysis Bullosa Acquisita: A Report of Two Cases.Case Rep Dermatol. 2015 Jul 3;7(2):129-35. doi: 10.1159/000435830. eCollection 2015 May-Aug. Case Rep Dermatol. 2015. PMID: 26269702 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
