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.


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*


  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human