Study of the cell biology and biochemistry of cherubism

J Southgate, U Sarma, JV Townend, J Barron and AM Flanagan
Department of Maxillofacial Surgery, St Richard's Trust, Chichester, West Sussex, UK.

AIMS: To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in- depth modern biochemical study of four children in the same family. SUBJECTS AND METHODS: Four related children with cherubism were studied. Tissue taken from one of the children at elective decompression of an optic nerve was submitted to in vitro bone resorption studies. Cytogenetic studies were done on two of the children and biochemical studies on all four. RESULTS: The multinucleate cells in the cherubic lesions were shown to be osteoclasts since they synthesised tartrate resistant acid phosphatase, expressed the vitronectin receptor, and resorbed bone. Bone resorption by the cultured multinucleate cells was significantly inhibited by calcitonin. High resolution cytogenetic studies failed to detect any chromosomal abnormalities in two children with cherubism. The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels. Urine analysis of pyridinium and deoxypyridinium cross links, hydroxyproline, and calcium in relation to urine creatinine were measured to assess bone resorption in these children, and the values were at the upper end of the normal range in all four. CONCLUSIONS: Further studies are required to determine whether calcitonin treatment will control this grossly deforming disease until the time when the physiological changes that occur at puberty rectify the pathology. It is not recommended that biochemical markers of bone resorption are used in isolation to monitor the activity of cherubism in individuals because the results are based on a small number of children and because of reports of marked interindividual variation in the levels of these markers, particularly in children.
CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Chen, G., Dimitriou, I. D., La Rose, J., Ilangumaran, S., Yeh, W.-C., Doody, G., Turner, M., Gommerman, J., Rottapel, R. (2007). The 3BP2 Adapter Protein Is Required for Optimal B-Cell Activation and Thymus-Independent Type 2 Humoral Response. Mol. Cell. Biol. 27: 3109-3122 [Abstract] [Full Text]  
• Gomes, M., de Souza Setubal Destro, M., de Freitas Banzi, E., dos Santos, S., Claro, F., de Oliveira Nogueira, T (2005). Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features. Dentomaxillofac Radiol 34: 313-318 [Abstract] [Full Text]