Cherubism
Session
Medical, Dental and Pharmaceutical Sciences
Description
Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children beteween age 2-7 and continues until puberty; in most cases the lesions regress spontaneously. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. There are a small number of pathological findings in jaws with giant cells, and normaly they should be diagnosed very easy. But very often we as surgeons and pathologists have problems in that field. The basic problem is how to differentiate them, because there is a difference in their behavior and also we are treating them in different ways. The presence of multinucleated giant cellsin fibro-osseous lesions of the jaws have led to considerable confusion and the giant cells themselves are of little diagnostic importance. This work present a case, a young patient that came in our department for the first time when she was 8 years old (2003) with cysts in frontal region of maxilla. HP finding at that time was a giant cellgranuloma. With this kind of diagnosis we have justified the operation in maxilla. Than she came back again after 3years, clinically she had characteristics cherubin face. We were confused with high level of parathormon 77.0 (8-74) and we changed our direction of diagnosis-grey tumor and in the same time alkaline phosphat was 694,5 (100-700). After detailed analyses the function of paratiroid glad was normal and with dynamic scintigrafy we concluded no changes in other bones of the body. In close disscusion with the pathologist the case was deeply analised and the final diagnose of HP was Cherubism.
Keywords:
Cherubism, Jaw tumors, Mandibulae, Maxilae
Session Chair
Merita Barani
Session Co-Chair
Burim Kiseri
Proceedings Editor
Edmond Hajrizi
ISBN
978-9951-437-69-1
Location
Pristina, Kosovo
Start Date
27-10-2018 1:30 PM
End Date
27-10-2018 3:00 PM
DOI
10.33107/ubt-ic.2018.352
Recommended Citation
Krasniqi, Vjosa Hamiti; Loxha, Mergime Prekazi; Agani, Zana; Rexhepi, Aida; and Ahmedi, Jehona, "Cherubism" (2018). UBT International Conference. 352.
https://knowledgecenter.ubt-uni.net/conference/2018/all-events/352
Cherubism
Pristina, Kosovo
Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children beteween age 2-7 and continues until puberty; in most cases the lesions regress spontaneously. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. There are a small number of pathological findings in jaws with giant cells, and normaly they should be diagnosed very easy. But very often we as surgeons and pathologists have problems in that field. The basic problem is how to differentiate them, because there is a difference in their behavior and also we are treating them in different ways. The presence of multinucleated giant cellsin fibro-osseous lesions of the jaws have led to considerable confusion and the giant cells themselves are of little diagnostic importance. This work present a case, a young patient that came in our department for the first time when she was 8 years old (2003) with cysts in frontal region of maxilla. HP finding at that time was a giant cellgranuloma. With this kind of diagnosis we have justified the operation in maxilla. Than she came back again after 3years, clinically she had characteristics cherubin face. We were confused with high level of parathormon 77.0 (8-74) and we changed our direction of diagnosis-grey tumor and in the same time alkaline phosphat was 694,5 (100-700). After detailed analyses the function of paratiroid glad was normal and with dynamic scintigrafy we concluded no changes in other bones of the body. In close disscusion with the pathologist the case was deeply analised and the final diagnose of HP was Cherubism.