Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.
Fiche publication
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
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;: