Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome

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 No...

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Autores principales: Miri, Othmane, Bonnet, Nicolas, Lysy, Philippe, Loucheur, Naima, Gayito, René, Docquier, Pierre Louis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305014/
https://www.ncbi.nlm.nih.gov/pubmed/30631623
http://dx.doi.org/10.1155/2018/7698052
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author Miri, Othmane
Bonnet, Nicolas
Lysy, Philippe
Loucheur, Naima
Gayito, René
Docquier, Pierre Louis
author_facet Miri, Othmane
Bonnet, Nicolas
Lysy, Philippe
Loucheur, Naima
Gayito, René
Docquier, Pierre Louis
author_sort Miri, Othmane
collection PubMed
description 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.
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spelling pubmed-63050142019-01-10 Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome Miri, Othmane Bonnet, Nicolas Lysy, Philippe Loucheur, Naima Gayito, René Docquier, Pierre Louis Case Rep Orthop Case Report 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. Hindawi 2018-12-06 /pmc/articles/PMC6305014/ /pubmed/30631623 http://dx.doi.org/10.1155/2018/7698052 Text en Copyright © 2018 Othmane Miri et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Miri, Othmane
Bonnet, Nicolas
Lysy, Philippe
Loucheur, Naima
Gayito, René
Docquier, Pierre Louis
Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome
title Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome
title_full Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome
title_fullStr Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome
title_full_unstemmed Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome
title_short Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome
title_sort multifocal pigmented villonodular synovitis in the noonan syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305014/
https://www.ncbi.nlm.nih.gov/pubmed/30631623
http://dx.doi.org/10.1155/2018/7698052
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