Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with aPIK3CAmutation
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with aPIK3CAmutation |
| Type de publication | Journal Article |
| Year of Publication | 2020 |
| Auteurs | Briand C, Galmiche-Rolland L, Vabres P, Couloigner V, Audebert S, Misery L, Abasq-Thomas C |
| Journal | PEDIATRIC DERMATOLOGY |
| Volume | 37 |
| Pagination | 1128-1130 |
| Date Published | NOV |
| Type of Article | Article |
| ISSN | 0736-8046 |
| Mots-clés | congenital infiltrating lipomatosis of the face, Cowden syndrome, facial infiltrating lipomatosis, MEN2b, mucosal neuromas, PROS syndromes |
| 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 thePIK3CA-related overgrowth spectrum (PROS). This was confirmed by genetic analysis showing a mosaic mutation inPIK3CA H1047R. CILF/PROS should be considered in the differential diagnosis of mucosal neuromas. |
| DOI | 10.1111/pde.14302 |