title: Neurofibromatosis presenting with a cherubism phenotype.
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.
authors.affiliation: Department of Pediatrics, Meander Medisch Centrum, Amersfoort, The Netherlands.
authors.forename: C I
authors.initials: CI
authors.lastname: van Capelle
authors.forename: P H G
authors.initials: PH
authors.lastname: Hogeman
authors.forename: C J M
authors.initials: CJ
authors.lastname: van der Sijs-Bos
authors.forename: B G F
authors.initials: BG
authors.lastname: Heggelman
authors.forename: B
authors.initials: B
authors.lastname: Idowu
authors.forename: P J
authors.initials: PJ
authors.lastname: Slootweg
authors.forename: A R M
authors.initials: AR
authors.lastname: Wittkampf
authors.forename: A M
authors.initials: AM
authors.lastname: Flanagan
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002636:Cherubism / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008297:Male; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D011859:Radiography