Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene

J Invest Dermatol. 2015 May;135(5):1450-1453. doi: 10.1038/jid.2015.15. Epub 2015 Jan 23.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adipose Tissue / pathology*
  • Amino Acid Sequence
  • Child, Preschool
  • Class I Phosphatidylinositol 3-Kinases
  • Diagnosis, Differential
  • Female
  • Humans
  • Hyperplasia / diagnosis
  • Hyperplasia / genetics
  • Lipoma / diagnosis*
  • Lipoma / genetics
  • Molecular Sequence Data
  • Musculoskeletal Abnormalities / diagnosis*
  • Musculoskeletal Abnormalities / genetics
  • Mutation, Missense / genetics*
  • Nevus / diagnosis*
  • Nevus / genetics
  • Phosphatidylinositol 3-Kinases / genetics*
  • Proteus Syndrome / diagnosis*
  • Proteus Syndrome / genetics
  • Vascular Malformations / diagnosis*
  • Vascular Malformations / genetics

Substances

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

Supplementary concepts

  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi