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Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature.
Cutis. 2007 Nov; 80(5):415-8.C

Abstract

Porphyria cutanea tarda (PCT) typically presents with complaints of fragile skin, dorsal hand vesicles, erosions, and scars, and increased levels of uroporphyrins. A case of PCT caused by iron overload associated with hereditary hemochromatosis (HH) is reported. The laboratory workup revealed the patient was homozygous for the Cys282Tyr mutation in the HFE (hemochromatosis) gene. The associated diagnosis of HH was critical because without early treatment, damage to vital organs and premature death could occur. This report highlights the important association of PCT with HH and reviews the role of key genetic and hormonal factors in iron regulation.

Authors+Show Affiliations

Young LC
Department of Medicine, Division of Dermatology, David Geffen School of Medicine, University of California, Los Angeles 90095, USA. lcyoung@mednet.ucla.edu

MeSH

AdultFemaleHemochromatosisHemochromatosis ProteinHistocompatibility Antigens Class IHumansIronMembrane ProteinsMutationPorphyria Cutanea Tarda

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

18189029

Citation

Young, Lorraine C.. "Porphyria Cutanea Tarda Associated With Cys282Tyr Mutation in HFE Gene in Hereditary Hemochromatosis: a Case Report and Review of the Literature." Cutis, vol. 80, no. 5, 2007, pp. 415-8.
Young LC. Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature. Cutis. 2007;80(5):415-8.
Young, L. C. (2007). Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature. Cutis, 80(5), 415-8.
Young LC. Porphyria Cutanea Tarda Associated With Cys282Tyr Mutation in HFE Gene in Hereditary Hemochromatosis: a Case Report and Review of the Literature. Cutis. 2007;80(5):415-8. PubMed PMID: 18189029.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature. A1 - Young,Lorraine C, PY - 2008/1/15/pubmed PY - 2008/2/26/medline PY - 2008/1/15/entrez SP - 415 EP - 8 JF - Cutis JO - Cutis VL - 80 IS - 5 N2 - Porphyria cutanea tarda (PCT) typically presents with complaints of fragile skin, dorsal hand vesicles, erosions, and scars, and increased levels of uroporphyrins. A case of PCT caused by iron overload associated with hereditary hemochromatosis (HH) is reported. The laboratory workup revealed the patient was homozygous for the Cys282Tyr mutation in the HFE (hemochromatosis) gene. The associated diagnosis of HH was critical because without early treatment, damage to vital organs and premature death could occur. This report highlights the important association of PCT with HH and reviews the role of key genetic and hormonal factors in iron regulation. SN - 0011-4162 UR - https://www.unboundmedicine.com/medline/citation/18189029/Porphyria_cutanea_tarda_associated_with_Cys282Tyr_mutation_in_HFE_gene_in_hereditary_hemochromatosis:_a_case_report_and_review_of_the_literature_ L2 - http://www.diseaseinfosearch.org/result/3288 DB - PRIME DP - Unbound Medicine ER -