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.
MeSH
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 -