Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature.

Cutis - 1 Nov 2007

Young Lorraine C

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to HFE gene
Share to Hemochromatosis
Share to Hemochromatosis Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histocompatibility Antigens Class I

Share to Membrane Proteins

Share to Mutation

Share to Porphyria Cutanea Tarda

Source

Identifiers

PMID: 18189029

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature.PMID 18189029Read ↗

Iron overload in porphyria cutanea tarda.Semantic proximity Read ↗

Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda.Semantic proximity Read ↗

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.Semantic proximity Read ↗

[Hemochromatosis: the most common of rare diseases].Semantic proximity Read ↗

Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection.Semantic proximity Read ↗

The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection.Semantic proximity Read ↗

High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic.Semantic proximity Read ↗

Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France.Semantic proximity Read ↗

Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).Semantic proximity Read ↗

Hemochromatosis: genetics helps to define a multifactorial disease.Semantic proximity Read ↗

Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.Semantic proximity Read ↗

HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.