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Article

A case of Maffucci syndrome with a buccal hemangioma harboring a mutation in IDH1.

Oral oncology - 1 Nov 2021

Ichimura Norihisa, Yamamoto Noriyuki, Toyama Naoto, Hibi Hideharu

Abstract excerpt

Maffucci syndrome, first described in 1881, is a rare, non-hereditary skeletal disorder characterized by multiple enchondromas in combination with soft tissue hemangiomas. Recent studies have implicated somatic mutations in IDH1/2 contributing to the pathogenesis of Maffucci syndrome. This study describes the first case of Maffucci syndrome harboring a mutation in IDH1, which was associated with a hemangioma in...

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Identifiers

PMID: 34624834
DOI: 10.1016/j.oraloncology.2021.105553

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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