|
|||||
|
|
Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation |
|
| Authors: | Clémence Briand MD Louise Galmiche-Rolland MD Pierre Vabres MD PHD Vincent Couloigner MD PHD Severine Audebert MD Laurent Misery MD PHD Claire Abasq-Thomas MD |
| Affiliation: | 1. Department of Dermatology, University Hospital of Brest, Brest, France;2. Department of Pathology, Necker Enfants Malades Hospital, APHP Paris, Paris, France;3. Department of Dermatology, University Hospital of Dijon, Dijon, France;4. Department of Otorhinolaryngology, Necker Hospital, Paris, France;5. Department of Genetics, University Hospital of Brest, Brest, France |
| Abstract: | 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. |
| Keywords: | congenital infiltrating lipomatosis of the face Cowden syndrome facial infiltrating lipomatosis MEN2b mucosal neuromas PROS syndromes |