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Article

Xeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of POLH.

Oral surgery, oral medicine, oral pathology and oral radiology - 1 Sept 2021

Pereira Thaís Dos Santos Fontes, Castro Ligia Pereira, Menck Carlos Frederico Martins, Maia Maria Helena Thomaz, Souza Lucas Lacerda de, Fonseca Felipe Paiva, Pontes Helder Antônio Rebelo, Pontes Flavia Sirotheau Correa, Gomez Ricardo Santiago

Abstract excerpt

Xeroderma pigmentosum (XP) is a rare inherited disease caused by deficiencies in DNA damage repair, which mainly results from the failure of nucleotide excision repair or defects in translesion DNA synthesis. The development of multiple malignancies is one of the most prominent features of this condition, which is clinically characterized by the occurrence of hyperpigmentation and lesions associated with sunlight...

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Identifiers

PMID: 34030998
DOI: 10.1016/j.oooo.2021.03.013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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