Facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations caused by nonhotspot phosphatidylinositol 3-kinase catalytic subunit alpha mutation

Pediatr Dermatol. 2023 Nov-Dec;40(6):1115-1119. doi: 10.1111/pde.15346. Epub 2023 May 15.

Abstract

We report an unusual case of facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations. In addition to the clinical data and imaging findings, detection of a heterozygous PIK3CA nonhotspot known pathogenic variant C420R in a facial epidermal nevus provided novel insight into the pathogenic effect of somatic PIK3CA mutations.

Keywords: PIK3CA mutation; facial infiltrating lipomatosis; hemimegalencephaly; lymphatic malformations.

Publication types

  • Case Reports

MeSH terms

  • Catalytic Domain
  • Hemimegalencephaly*
  • Humans
  • Lipomatosis* / complications
  • Lipomatosis* / diagnosis
  • Lipomatosis* / genetics
  • Mutation
  • Phosphatidylinositol 3-Kinase / genetics

Substances

  • Phosphatidylinositol 3-Kinase