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

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

doi:10.1111/pde.14302

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

Pediatr Dermatol. 2020 Nov;37(6):1128-1130. doi: 10.1111/pde.14302. Epub 2020 Aug 8.

Authors

Clémence Briand¹, Louise Galmiche-Rolland², Pierre Vabres³, Vincent Couloigner⁴, Severine Audebert⁵, Laurent Misery¹, Claire Abasq-Thomas¹

Affiliations

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.

PMID: 32770747
DOI: 10.1111/pde.14302

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: Cowden syndrome; MEN2b; PROS syndromes; congenital infiltrating lipomatosis of the face; facial infiltrating lipomatosis; mucosal neuromas.

Publication types

Case Reports

MeSH terms

Child, Preschool
Class I Phosphatidylinositol 3-Kinases / genetics
Face
Facial Asymmetry
Female
Humans
Lipomatosis*
Mutation
Neuroma*

Substances

Class I Phosphatidylinositol 3-Kinases
PIK3CA protein, human