European Journal of Pediatrics

, Volume 166, Issue 9, pp 905–909

Neurofibromatosis presenting with a cherubism phenotype

  • C. I. van Capelle
  • P. H. G. Hogeman
  • C. J. M. van der Sijs-Bos
  • B. G. F. Heggelman
  • B. Idowu
  • P. J. Slootweg
  • A. R. M. Wittkampf
  • A. M. Flanagan
Original Paper

DOI: 10.1007/s00431-006-0334-6

Cite this article as:
van Capelle, C.I., Hogeman, P.H.G., van der Sijs-Bos, C.J.M. et al. Eur J Pediatr (2007) 166: 905. doi:10.1007/s00431-006-0334-6

Abstract

We report on a child who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and cherubism. With genetic testing, we found a mutation in the NF-1 gene, confirming the neurocutaneous disorder. Histology when correlated with radiological evaluation of a mandibular biopsy was consistent with cherubism. This is the first report in the literature of a child with proven neurofibromatosis type 1 and cherubism without extragnathic lesions. This emphasises that cherubism is a clinical phenotype that can be associated with a number of germline mutations involving SH3BP2, PTPN11 and NF1.

Keywords

Cherubism Neurofibromatosis 

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • C. I. van Capelle
    • 1
  • P. H. G. Hogeman
    • 1
  • C. J. M. van der Sijs-Bos
    • 2
  • B. G. F. Heggelman
    • 3
  • B. Idowu
    • 4
  • P. J. Slootweg
    • 5
    • 6
  • A. R. M. Wittkampf
    • 7
    • 8
  • A. M. Flanagan
    • 4
  1. 1.Department of PediatricsMeander Medisch CentrumAmersfoortThe Netherlands
  2. 2.Division of Medical GeneticsUniversity Medical Center UtrechtUtrechtThe Netherlands
  3. 3.Department of RadiologyMeander Medisch CentrumAmersfoortThe Netherlands
  4. 4.Institute of Orthopaedics and Musculoskeletal ScienceUniversity College LondonLondonUK
  5. 5.Department of PathologyUniversity Medical Center RadboudNijmegenThe Netherlands
  6. 6.Department of PathologyUniversity Medical Center UtrechtUtrechtThe Netherlands
  7. 7.Department of Oral-Maxillofacial SurgeryMeander Medisch CentrumAmersfoortThe Netherlands
  8. 8.Department of Oral-Maxillofacial SurgeryUniversity Medical Center UtrechtUtrechtThe Netherlands

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