Neurofibromatosis presenting with a cherubism phenotype.
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.
van Capelle
C I
CI
Department of Pediatrics, Meander Medisch Centrum, Amersfoort, The Netherlands.
Hogeman
P H G
PH
van der Sijs-Bos
C J M
CJ
Heggelman
B G F
BG
Idowu
B
B
Slootweg
P J
PJ
Wittkampf
A R M
AR
Flanagan
A M
AM
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