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Article

Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.

Journal of medical case reports - 14 Nov 2023

Khan Javeriah, Hashmi Muhammad Usman, Noor Nabeeha, Khan Ahmad Jamal, Shrateh Oadi N, Tahir Muhammad Junaid

Abstract excerpt

BACKGROUND: Congenital erythropoietic porphyria (CEP), also known as pink tooth or Gunther disease, is a rare hereditary disorder caused by an enzyme mutation in the heme biosynthesis pathway, which leads to the accumulation of immature and non-physiological protoporphyrin rings in various tissues. CEP is characterized by sun-exposed bullous skin lesions, hemolytic anemia, red/brown urine, and teeth staining....

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Identifiers

PMID: 37957719
DOI: 10.1186/s13256-023-04204-5
PMCID: PMC10644557

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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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