Neurofibromatosis presenting with a cherubism phenotype
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- 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
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.