Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines

Henk van den Berg; Willem Hans Schreuder; Marjolijn Jongmans; Danielle van Bommel-Slee; Bart Witsenburg; Jan de Lange

doi:10.1016/j.ejmg.2016.05.013

Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines

Eur J Med Genet. 2016 Aug;59(8):425-8. doi: 10.1016/j.ejmg.2016.05.013. Epub 2016 May 26.

Authors

Henk van den Berg¹, Willem Hans Schreuder², Marjolijn Jongmans³, Danielle van Bommel-Slee⁴, Bart Witsenburg⁵, Jan de Lange²

Affiliations

¹ Department of Pediatric Oncology, Emma Children Hospital/Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: h.vandenberg@amc.uva.nl.
² Department of Oral and Maxillofacial Surgery, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
³ Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
⁴ Department of Pediatrics, Ziekenhuisgroep Twente, Almelo, The Netherlands.
⁵ Department of Oral and Maxillofacial Surgery, Ziekenhuisgroep Twente, Almelo and Medisch Spectrum Twente, Enschede, The Netherlands.

PMID: 27238887
DOI: 10.1016/j.ejmg.2016.05.013

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.

Keywords: Giant cell granuloma; Giant cell tumor; LEOPARD syndrome; Lentigines; Mandible; Maxilla; Noonan syndrome.

Publication types

Case Reports

MeSH terms

Biopsy
Child
Giant Cells / pathology*
Humans
Jaw / pathology
LEOPARD Syndrome / diagnosis*
Male
Phenotype
Skin / pathology
Tomography, X-Ray Computed