.png){kind=small}
Examination of clinical and pathological characteristics and its relationship with cytogenic changes in patients with cherubism
Summary of the necessity of project implementation
Cherubism is known as a very rare auto-inflammatory bone disease. The clinical appearance of this disease is limited to the patient's face and often manifests itself in children (1, 2, 3, 4, 5). Due to the very clear and characteristic appearance of this disease, it raises concerns for the families of sick people. They create Cherubism mainly occurs in children and can cause the loss of milk teeth and lack of permanent teeth after eruption (5). Also, this disease has the ability to perforate the cerebral cortex and block the airway (6). So far, the most relevant gene known for this disease is SH3BP2, which is in the small arm of chromosome number 4 (3,4), however, the mentioned gene could not show its definitive relationship with the disease in research, so that in the systematic review published by Cooper et al. in 2022, the mutations of this gene had different phenotypes to such an extent that the researchers could not reveal the relationship between this gene and the disease, and conducting more research in order to advance the diagnosis and treatment of this disease has become important (7), this It should also be known that in addition to cherubism disease, the mentioned gene plays an obvious role in the health of the immune system, as a result of the cytogenetic examination of this disease and the SH3BP2 gene can greatly help in screening and determining the diagnosis, so that the susceptible parents can be distinguished from the cases We are screening this disease, and it will make us more familiar with this gene and its unknown effects. Also, considering the rarity of the disease, it will be a very important and effective step to present multiple cases, which reach 6 cases in this study. It should be noted that due to the rarity of cherubism disease, this research can help in finding its pathogenesis and etiology.
Start year: 1403
Project manager: Dr. Pooyan Amini Shakib
Send to friends