Cherubism 1 Introduction
نویسنده
چکیده
Cherubism, a very rare disorder with only an estimated 300 cases reported in the literature, is a benign hereditary condition of the mandible and/or maxilla, usually found in children between 2 and 5 years of age giving characteristic cherubic appearance to the patient. On radiography, the lesions exhibit bilateral multilocular radiolucent areas. Histopathology reveals multinucleated giant cells in the background of proliferating fibrous connective tissue. The present case report describes cherubism in a 10 years old male child and briefly reviews literature on this report.
منابع مشابه
Cherubism--a case report.
Introduction: Cherubism is a rare, non neoplastic, fibroosseous disorder seen in children which is characterized by bilateral painless enlargement of the jaws giving a cherubic appearance to the patient. It is an autosomal dominant disorder but may occur sporadically as well. The treatment of cherubism is contentious. It is said that the disease regresses by itself and even after regression, ...
متن کاملA new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism.
Cherubism is a familial benign fibro-osseous disease of the jaws. Mutations in the SH3BP2 gene are identified as the cause of cherubism. In the present study the penetrance of cherubism in a Turkish family is described. Clinical and radiologic examination and DNA analysis were performed in eleven members of the family. Two members had the classic features of cherubism. In 5 family members a poi...
متن کاملCherubism: A Variant Case
Introduction: Cherubism, a form of osteolytic genetic disorder presents in childhood and tends to regress spontaneously after puberty. It is characterized by painless expansion of mandible or maxilla or both. Case Report: On radiography, the lesions exhibit bilateral multinuclear radiolucent areas. Histopathology reveals multinucleated giant cells in the background of proliferating fibrous conn...
متن کاملLoss of Tankyrase-Mediated Destruction of 3BP2 Is the Underlying Pathogenic Mechanism of Cherubism
Cherubism is an autosomal-dominant syndrome characterized by inflammatory destructive bony lesions resulting in symmetrical deformities of the facial bones. Cherubism is caused by mutations in Sh3bp2, the gene that encodes the adaptor protein 3BP2. Most identified mutations in 3BP2 lie within the peptide sequence RSPPDG. A mouse model of cherubism develops hyperactive bone-remodeling osteoclast...
متن کاملCherubism With Bilateral Mandible and Maxilla Involvement
Cherubism is a rare, nonneoplastic, self-limiting fibro-osseous that occurs in children. Affected children usually appear normal at birth. Lesions are characterized by the replacement of bone with fibrovascular tissue containing many multinucleated giant cells. Most studies have reported cherubism to be familial and with bilateral involvement of the mandibles. The authors describe a nonfamilial...
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تاریخ انتشار 2015