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Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.

Frontiers in endocrinology - 1 Jan 2024

Wu Shu-Hui, Xiao Ting, Zhao Dan, Zeng Ying-Hong, Zhu Ming-Fang

Abstract excerpt

Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme. Xeroderma pigmentosum-erythropoietic protoporphyria is exceedingly rare. Hereby, we firstly report a young Chinese patient of xeroderma pigmentosum Group A with erythropoietic...

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Identifiers

PMID: 39129919
DOI: 10.3389/fendo.2024.1418254
PMCID: PMC11310039

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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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