REVIEW PAPER
Observations of spontaneous cherubism based on two cases and a literature review
1
Department of Maxillofacial Surgery, University Clinical Hospital, Rzeszow, Poland
2
Institute of Medical Sciences, the University of Rzeszow, Rzeszow, Poland
3
Institute of Health Science, the University of Rzeszow, Rzeszow, Poland
Submission date: 2023-01-10
Final revision date: 2023-08-22
Acceptance date: 2023-08-23
Publication date: 2023-12-30
Corresponding author
Michał Bałuszyński
Michał Bałuszyński Department of Maxillofacial Surgery University Clinical Hospital Rzeszow, Poland
Michał Bałuszyński Department of Maxillofacial Surgery University Clinical Hospital Rzeszow, Poland
Medical Studies 2023;39(4):389-395
KEYWORDS
TOPICS
ABSTRACT
Cherubism is a genetically determined illness characterized by osseus lesions of the facial part of the skull. X-ray and histopathological analysis of cherubism show it to be similar to fibrosis dysplasia, a brown tumour that occurs in the parathyroids or giant cells. Our paper describes 2 cases of cherubism. In each of them, X-ray examination, histopathological analysis and genetic tests led to a diagnosis. In this study, in the first case, there was no mutation in the SH3BP2 gene, which does not exclude the possibility that the mutation occurs in another gene. In the second case, in a patient diagnosed with cherubism after many years of observation and when clinical symptoms had worsened, genetic tests confirmed a mutation in exon 9 of the SH3BP2 gene.
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| eISSN: | 2300-6722 |
| ISSN: | 1899-1874 |
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