Giant cell lesion of the jaw as a presenting feature of Noonan syndrome. (30th May 2018)

• Record Type: Journal Article
• Authors: Sinnott, Bridget P; Patel, Maya
• Is Part Of: BMJ case reports. Volume 2018
• Publication Date: 2018-05-30
• Subjects: endocrine system -- calcium and bone; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2017-224115
• Languages: English
• ISSNs: 1757-790X

Abstract

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.