Literature DB >> 29848529

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

Bridget P Sinnott1, Maya Patel2.   

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. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Entities:  

Keywords:  calcium and bone; endocrine system

Mesh:

Substances:

Year:  2018        PMID: 29848529      PMCID: PMC5976125          DOI: 10.1136/bcr-2017-224115

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  16 in total

1.  Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

Authors:  D R Bertola; C A Kim; A C Pereira; G F Mota; J E Krieger; I C Vieira; M Valente; M R Loreto; R P Magalhães; C H Gonzalez
Journal:  Am J Med Genet       Date:  2001-01-22

Review 2.  Noonan-like/multiple giant cell lesion syndrome: report of a case and review of the literature.

Authors:  Eppo B Wolvius; Jan de Lange; Erik E J Smeets; Karel G H van der Wal; Hans P van den Akker
Journal:  J Oral Maxillofac Surg       Date:  2006-08       Impact factor: 1.895

3.  Noonan syndrome with giant cell lesions.

Authors:  S M G Lee; J C Cooper
Journal:  Int J Paediatr Dent       Date:  2005-03       Impact factor: 3.455

4.  SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Authors:  Claire Beneteau; Hélène Cavé; Anne Moncla; Nathalie Dorison; Arnold Munnich; Alain Verloes; Bruno Leheup
Journal:  Eur J Hum Genet       Date:  2009-04-08       Impact factor: 4.246

Review 5.  Noonan-like/multiple giant cell lesion syndrome.

Authors:  M M Cohen; R J Gorlin
Journal:  Am J Med Genet       Date:  1991-08-01

6.  Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

Authors:  Christian P Kratz; Suthee Rapisuwon; Helen Reed; Henrik Hasle; Philip S Rosenberg
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-04-15       Impact factor: 3.908

7.  Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Authors:  M Tartaglia; E L Mehler; R Goldberg; G Zampino; H G Brunner; H Kremer; I van der Burgt; A H Crosby; A Ion; S Jeffery; K Kalidas; M A Patton; R S Kucherlapati; B D Gelb
Journal:  Nat Genet       Date:  2001-12       Impact factor: 38.330

8.  Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.

Authors:  J S Lee; M Tartaglia; B D Gelb; K Fridrich; S Sachs; C A Stratakis; M Muenke; P G Robey; M T Collins; A Slavotinek
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

9.  Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Authors:  Marjolijn C J Jongmans; Ineke van der Burgt; Peter M Hoogerbrugge; Kees Noordam; Helger G Yntema; Willy M Nillesen; Roland P Kuiper; Marjolijn J L Ligtenberg; Ad Geurts van Kessel; J Han J M van Krieken; Lambertus A L M Kiemeney; Nicoline Hoogerbrugge
Journal:  Eur J Hum Genet       Date:  2011-03-16       Impact factor: 4.246

Review 10.  Noonan syndrome.

Authors:  Amy E Roberts; Judith E Allanson; Marco Tartaglia; Bruce D Gelb
Journal:  Lancet       Date:  2013-01-10       Impact factor: 79.321

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  3 in total

1.  Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.

Authors:  Reinhard E Friedrich; Jozef Zustin; Andreas M Luebke; Thorsten Rosenbaum; Martin Gosau; Christian Hagel; Felix K Kohlrusch; Ilse Wieland; Martin Zenker
Journal:  In Vivo       Date:  2021 May-Jun       Impact factor: 2.155

2.  Sequential Loss of Mandibular Permanent Incisors in Noonan Syndrome.

Authors:  Reinhard E Friedrich; Hanna A Scheuer
Journal:  In Vivo       Date:  2022 Mar-Apr       Impact factor: 2.155

Review 3.  Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.

Authors:  Melissa Luna; Nicholas Wolsefer; Carlos-Xavier Zambrano; Ivan James Stojanov
Journal:  Acta Stomatol Croat       Date:  2022-03
  3 in total

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