A RARE CASE REPORT OF NON-FAMILIAL SPORADIC REOCCURRENCE OF CHERUBISM: DIFFICULTIES FROM THE SURGEON'S POINT OF VIEW

Cherubism is a rare bone dysplasia in children characterized by symmetrical bone resorption limited only to the jaws and diagnosed as bone lesions filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. Most patients have germline mutations in the gene enco...

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Veröffentlicht in:Collegium antropologicum 2022-01, Vol.46 (2), p.145
Hauptverfasser: Krasniqi, Vjosa Hamiti, Loxha, Mergime Prekazi, Agani, Zana, Rexhepi, Aida, Ahmedi, Jehona, Stubljar, David
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Sprache:eng
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Zusammenfassung:Cherubism is a rare bone dysplasia in children characterized by symmetrical bone resorption limited only to the jaws and diagnosed as bone lesions filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. Most patients have germline mutations in the gene encoding SH3BP2, a signaling adaptor protein involved in the adaptive and innate immune responses. Treatment depends on the clinical course of the disease. The current case report presents a young patient with cysts in frontal region of maxilla without family history, that had recurrences of cysts, and is representing a less documented, rare case. Histological finding at that time was indicating a giant cell granuloma and later a grey tumor. Due to existence of other pathological findings in jaws with the presence of giant cells, we had difficulties to diagnose cherubism as surgeons.
ISSN:0350-6134
1848-9486
DOI:10.5671/ca.46.2.9