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

Date publication

août 2020

Journal

Pediatric dermatology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr VABRES Pierre

Tous les auteurs :
Briand C, Galmiche-Rolland L, Vabres P, Couloigner V, Audebert S, Misery L, Abasq-Thomas C

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/32770747

Résumé

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 H1047R. CILF/PROS should be considered in the differential diagnosis of mucosal neuromas.

Mots clés

Cowden syndrome, MEN2b, PROS syndromes, congenital infiltrating lipomatosis of the face, facial infiltrating lipomatosis, mucosal neuromas

Référence

Pediatr Dermatol. 2020 Aug 8;: