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Article

Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.

Pediatric dermatology - 1 Nov 2020

Briand Clémence, Galmiche-Rolland Louise, Vabres Pierre, Couloigner Vincent, Audebert Severine, Misery Laurent, Abasq-Thomas Claire

Abstract excerpt

We report the case of a 5-year-old girl with congenital right-sided facial hemihypertrophy and right hemi-macroglossia with lingual mucosal neuromas. The segmental presentation of findings suggested the diagnosis of congenital infiltrating lipomatosis of the face (CILF), which belongs within the PIK3CA-related overgrowth spectrum (PROS). This was confirmed by genetic analysis showing a mosaic mutation in PIK3CA...

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Identifiers

PMID: 32770747
DOI: 10.1111/pde.14302

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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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Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.PMID 32770747Read ↗

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