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Article

Erythropoietic protoporphyria: spectrum of three cases.

Journal of cutaneous medicine and surgery - 1 Jan 2000

Bertrand Janie, Clarke Joe T R, Hanna Dominique

Abstract excerpt

BACKGROUND: Erythropoietic protoporphyria is a rare photodermatosis of childhood, and the diagnosis can be delayed. A deficient ferrochelatase enzyme leads to accumulation of protoporphyrins in the dermis, causing phototoxic burning. OBJECTIVE: To report three cases with great variability in severity of symptoms and age at diagnosis. We discuss clinical and biochemical findings, mutation analysis, and therapeutic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22971305
DOI: 10.1177/120347541201600507

Genes

FECH

Provenance

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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