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Article

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.

Orphanet journal of rare diseases - 2 Jul 2025

Xiong Hongli, He Song, Yang Zhaoxia, Zheng Ruizao, Yu Huihong

Abstract excerpt

BACKGROUND: Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase. These mutations disrupt normal heme synthesis, leading to the accumulation of protoporphyrin in erythrocytes and other tissues. Clinical manifestations include cutaneous photosensitivity, characterized by burning and itching of the skin, and, less commonly,...

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Identifiers

PMID: 40604827
DOI: 10.1186/s13023-025-03860-8
PMCID: PMC12224708

Genes

FECH

Provenance

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