Bone Health

Cherubism aka/or Familial fibrous dysplasia of jaw Definition - "A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination." may cause or feature - Symptoms and Signs Cervical lymphadenopathy Hypertelorism, ocular Congenital conditions Hypodontia Prognathia

cherubism can be caused by mutations in the SH3BP2 gene. Swelling of the lower face begins around the third or fourth year of life and progresses until the late teens. The enlargement may be exaggerated by enlargement of submandibular lymph nodes. X-ray reveals multilocular cystic changes in the mandible and maxilla and often in the anterior ends of the ribs. Though clinical swelling usually abates by the third decade, radiographic changes commonly persist into the fourth decade. The condition must be differentiated from Caffey disease (114000) in which the x-ray appearance is different and involvement of the skeleton, e.g., the tibia, is more widespread. It is, like Caffey disease, a benign self-limited condition. The disorder has also been called familial benign giant-cell tumor of the jaw, familial multilocular cystic disease of the jaw, etc.

Axial CT scan through facial bones at level of hard palate of 5-year-old boy with cherubism shows typical expansile lesions involving base of maxilla and mandibular rami. Additional images from this study (not shown) revealed uniform symmetric involvement of entire maxilla and mandible, typical of cherubism.

Page 10 Cherubism Point Mutation sheds light on Giant Cell tumors

Search string "cherubism"[majr] yields 207 articles Dec 2007 URL - http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=pubmed&details_term=%22cherubism%22%5Bmajr%5D

cherubism