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Article

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations.

Orphanet journal of rare diseases - 14 Jul 2023

Chen Hongrui, Sun Bin, Gao Wei, Qiu Yajing, Hua Chen, Lin Xiaoxi

Abstract excerpt

BACKGROUND: Facial infiltrating lipomatosis (FIL) is a rare congenital disorder characterized by unilateral facial swelling, for which surgery is the prevailing therapeutic option. Several studies have shown that the development of FIL is closely associated with PIK3CA mutations. This study aimed to further identify rare clinical features and underlying molecular variants in patients with FIL. RESULTS: Eighteen...

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Identifiers

PMID: 37452404
DOI: 10.1186/s13023-023-02786-3
PMCID: PMC10347770

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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