Neurofibromatosis presenting with a cherubism phenotype

  title={Neurofibromatosis presenting with a cherubism phenotype},
  author={C. I. van Capelle and Paul H. G. Hogeman and C. J. M. van der Sijs-Bos and Ben G. F. Heggelman and Bernadine Idowu and Pieter Johannes Slootweg and Albert R. M. Wittkampf and Adrienne Margaret Flanagan},
  journal={European Journal of Pediatrics},
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… CONTINUE READING