title: Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.
abstract: A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a different molecular pathogenesis and effect on the RAS/MEK pathway, NSML shares the development of MGCL, with other RASopathies.
authors.affiliation: Department of Pediatric Oncology, Emma Children Hospital/Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: h.vandenberg@amc.uva.nl.
authors.forename: Henk
authors.initials: H
authors.lastname: van den Berg
authors.affiliation: Department of Oral and Maxillofacial Surgery, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Willem Hans
authors.initials: WH
authors.lastname: Schreuder
authors.affiliation: Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Marjolijn
authors.initials: M
authors.lastname: Jongmans
authors.affiliation: Department of Pediatrics, Ziekenhuisgroep Twente, Almelo, The Netherlands.
authors.forename: Danielle
authors.initials: D
authors.lastname: van Bommel-Slee
authors.affiliation: Department of Oral and Maxillofacial Surgery, Ziekenhuisgroep Twente, Almelo and Medisch Spectrum Twente, Enschede, The Netherlands.
authors.forename: Bart
authors.initials: B
authors.lastname: Witsenburg
authors.affiliation: Department of Oral and Maxillofacial Surgery, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Jan
authors.initials: J
authors.lastname: de Lange
mesh_terms: D001706:Biopsy; D002648:Child; D015726:Giant Cells / Q000473:pathology*; D006801:Humans; D007568:Jaw / Q000473:pathology; D044542:LEOPARD Syndrome / Q000175:diagnosis*; D008297:Male; D010641:Phenotype; D012867:Skin / Q000473:pathology; D014057:Tomography, X-Ray Computed
keywords: Giant cell granuloma; Giant cell tumor; LEOPARD syndrome; Lentigines; Mandible; Maxilla; Noonan syndrome