Giant cell lesion of the jaw as a presenting feature of Noonan syndrome

BMJ Case Rep. 2018 May 30:2018:bcr2017224115. doi: 10.1136/bcr-2017-224115.

Abstract

This is a case of a 20-year-old woman who presented with a left jaw mass which was resected and found to be a giant cell granuloma of the mandible. Her history and physical examination were suggestive for Noonan syndrome which was confirmed with genetic testing and the finding of a PTPN11 gene mutation which has rarely been associated with giant cell lesions of the jaw. Given her particular genetic mutation and the presence of a giant cell lesion, we present a case of Noonan-like/multiple giant cell lesion syndrome.

Keywords: calcium and bone; endocrine system.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Granuloma, Giant Cell / complications*
  • Granuloma, Giant Cell / surgery
  • Humans
  • Jaw Diseases / complications*
  • Jaw Diseases / surgery
  • Mutation / genetics
  • Noonan Syndrome / complications*
  • Noonan Syndrome / genetics
  • Noonan Syndrome / surgery
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics
  • Treatment Outcome
  • Young Adult

Substances

  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11