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Porphyria cutanea tarda--when skin meets liver.
Best Pract Res Clin Gastroenterol. 2010 Oct; 24(5):735-45.BP

Abstract

Porphyria cutanea tarda (PCT) is the most frequent type of porphyria worldwide and results from a catalytic deficiency of uroporphyrinogen decarboxylase (UROD), the fifth enzyme in heme biosynthesis. At least two different types of PCT are currently distinguished: an acquired variant, also referred to as sporadic or type I PCT, in which the enzymatic deficiency is limited to the liver; and an autosomal dominantly inherited form, also known as familial or type II PCT, in which there is a decrease of enzymatic activity in all tissues. The cutaneous findings include increased photosensitivity, skin fragility, blistering, erosions, crusts, and miliae on the sun-exposed areas of the body. Additionally, hyperpigmentation, hypertrichosis, sclerodermoid plaques, and scarring alopecia might be observed. In patients with type I PCT, there is a significant association with liver disease that can be triggered by genetic and environmental factors, such as alcohol abuse, iron overload, haemochromatosis, polychlorinated hydrocarbons, and hepatitis C virus infection. The diagnosis of PCT can be made based on the skin symptoms, a characteristic urinary porphyrin excretion profile, and the detection of isocoproporphyrin in the feces. In red blood cells of individuals with type II PCT, UROD activity is decreased by approximately 50% due to heterozygous mutations in the UROD gene. Here we provide an update on clinical, diagnostic and therapeutic aspects of PCT, a disorder that affects both skin and liver.

Authors+Show Affiliations

Department of Dermatology, Euregional Porphyria Center Maastricht, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center (MUMC), Maastricht, The Netherlands. jorgefrank@yahoo.comNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

20955974

Citation

Frank, Jorge, and Pamela Poblete-Gutiérrez. "Porphyria Cutanea Tarda--when Skin Meets Liver." Best Practice & Research. Clinical Gastroenterology, vol. 24, no. 5, 2010, pp. 735-45.
Frank J, Poblete-Gutiérrez P. Porphyria cutanea tarda--when skin meets liver. Best Pract Res Clin Gastroenterol. 2010;24(5):735-45.
Frank, J., & Poblete-Gutiérrez, P. (2010). Porphyria cutanea tarda--when skin meets liver. Best Practice & Research. Clinical Gastroenterology, 24(5), 735-45. https://doi.org/10.1016/j.bpg.2010.07.002
Frank J, Poblete-Gutiérrez P. Porphyria Cutanea Tarda--when Skin Meets Liver. Best Pract Res Clin Gastroenterol. 2010;24(5):735-45. PubMed PMID: 20955974.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Porphyria cutanea tarda--when skin meets liver. AU - Frank,Jorge, AU - Poblete-Gutiérrez,Pamela, PY - 2010/07/05/received PY - 2010/07/14/accepted PY - 2010/10/20/entrez PY - 2010/10/20/pubmed PY - 2011/2/4/medline SP - 735 EP - 45 JF - Best practice & research. Clinical gastroenterology JO - Best Pract Res Clin Gastroenterol VL - 24 IS - 5 N2 - Porphyria cutanea tarda (PCT) is the most frequent type of porphyria worldwide and results from a catalytic deficiency of uroporphyrinogen decarboxylase (UROD), the fifth enzyme in heme biosynthesis. At least two different types of PCT are currently distinguished: an acquired variant, also referred to as sporadic or type I PCT, in which the enzymatic deficiency is limited to the liver; and an autosomal dominantly inherited form, also known as familial or type II PCT, in which there is a decrease of enzymatic activity in all tissues. The cutaneous findings include increased photosensitivity, skin fragility, blistering, erosions, crusts, and miliae on the sun-exposed areas of the body. Additionally, hyperpigmentation, hypertrichosis, sclerodermoid plaques, and scarring alopecia might be observed. In patients with type I PCT, there is a significant association with liver disease that can be triggered by genetic and environmental factors, such as alcohol abuse, iron overload, haemochromatosis, polychlorinated hydrocarbons, and hepatitis C virus infection. The diagnosis of PCT can be made based on the skin symptoms, a characteristic urinary porphyrin excretion profile, and the detection of isocoproporphyrin in the feces. In red blood cells of individuals with type II PCT, UROD activity is decreased by approximately 50% due to heterozygous mutations in the UROD gene. Here we provide an update on clinical, diagnostic and therapeutic aspects of PCT, a disorder that affects both skin and liver. SN - 1532-1916 UR - https://www.unboundmedicine.com/medline/citation/20955974/Porphyria_cutanea_tarda__when_skin_meets_liver_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1521-6918(10)00081-8 DB - PRIME DP - Unbound Medicine ER -