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Article

Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.

Acta dermato-venereologica - 1 Jan 2003

Bygum Anette, Christiansen Lene, Petersen Niels Erik, Hørder Mogens, Thomsen Kristian, Brandrup Flemming

Abstract excerpt

The manifestation of porphyria cutanea tarda reflects genetic and environmental factors. Mutations in the uroporphyrinogen decarboxylase gene, located at chromosome 1p34, discriminate familial porphyria cutanea tarda from sporadic cases. Furthermore, mutations in the haemochromatosis gene may be involved in the aetiology. In this study 53 unrelated Danish patients with porphyria cutanea tarda were classified...

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PMID: 12735639
DOI: 10.1080/00015550310007454

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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