Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome. (6th December 2018)

• Record Type: Journal Article
• Authors: Miri, Othmane; Bonnet, Nicolas; Lysy, Philippe; Loucheur, Naima; Gayito, René; Docquier, Pierre Louis
• Other Names: Subbiah Vivek Academic Editor.
• Is Part Of: Case reports in orthopedics. Volume 2018(2018)
• Publication Date: 2018-12-06
• Subjects: Orthopedics -- Periodicals; Orthopedics; Orthopedics; Periodicals; Electronic journals; Periodicals; 616.7
• DOI: 10.1155/2018/7698052
• Languages: English
• ISSNs: 2090-6749

Abstract

Abstract : Noonan-like/multiple giant cell lesion (NS/MGCL) is a rare condition overlapping with Noonan syndrome. Once thought to be a specific and separate entity, it is now suggested to be a variant of the Noonan syndrome spectrum. We report the case of an 8-year-old boy with a typical clinical picture of Noonan syndrome with a de novo germline mutation of PTPN11 (c.854 T>C). During his follow-up, the patient developed multifocal pigmented villonodular synovitis which first affected the left knee and shortly after both elbows.