Observations of spontaneous cherubism based on two cases and a literature review

Robert Brodowski; Paweł Pakla; Aleksander Myszka; Ewelina Czenczek-Lewandowska; Michał Bałuszyński; Bogumił Lewandowski

doi:10.5114/ms.2023.134092

eISSN: 2300-6722
ISSN: 1899-1874

Medical Studies/Studia Medyczne

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4/2023
vol. 39

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abstract:

Review paper

Observations of spontaneous cherubism based on two cases and a literature review

Robert Brodowski

¹

,

Paweł Pakla

¹

,

Aleksander Myszka

²

,

Ewelina Czenczek-Lewandowska

³

,

Michał Bałuszyński

¹

,

Bogumił Lewandowski

^{1, 2}

Department of Maxillofacial Surgery, University Clinical Hospital, Rzeszow, Poland
Institute of Medical Sciences, the University of Rzeszow, Rzeszow, Poland
Institute of Health Science, the University of Rzeszow, Rzeszow, Poland

Medical Studies/Studia Medyczne 2023; 39 (4): 389-395

DOI: https://doi.org/10.5114/ms.2023.134092

Online publish date: 2023/12/30

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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.

keywords:

Observations of spontaneous cherubism based on two cases and a literature review

Robert Brodowski 1 , Paweł Pakla 1 , Aleksander Myszka 2 , Ewelina Czenczek-Lewandowska 3 , Michał Bałuszyński 1 , Bogumił Lewandowski 1, 2

differential diagnosis, cherubism, X-ray changes

Robert Brodowski

¹

,

Paweł Pakla

¹

,

Aleksander Myszka

²

,

Ewelina Czenczek-Lewandowska

³

,

Michał Bałuszyński

¹

,

Bogumił Lewandowski

^{1, 2}