Abstract | 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: 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.
|
Authors | J Southgate, U Sarma, J V Townend, J Barron, A M Flanagan |
Journal | Journal of clinical pathology
(J Clin Pathol)
Vol. 51
Issue 11
Pg. 831-7
(Nov 1998)
ISSN: 0021-9746 [Print] England |
PMID | 10193324
(Publication Type: Case Reports, Journal Article)
|
Chemical References |
- salmon calcitonin
- Calcitonin
|
Topics |
- Bone Resorption
- Calcitonin
(pharmacology)
- Cherubism
(genetics, metabolism, pathology)
- Child
- Child, Preschool
- Culture Techniques
- Disease Progression
- Facies
- Female
- Follow-Up Studies
- Humans
- Infant
- Osteoclasts
(pathology)
- Pedigree
|