Cherubism is one of the very few genetically determined disorders that affect only jaw bones. A typical form of cherubism in an 11 years old girl with features of bilateral swelling of the cheeks and soap bubble radiographic appearance on the maxilla and the mandible was presented. Multiple members of the first and second degree relatives were also affected. The clinical presentation of the case, differential diagnosis and treatment modalities were discussed.
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http://dx.doi.org/10.1007/s12105-013-0489-1 | DOI Listing |
Balkan Med J
January 2025
Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye.
Autoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology. Inflammatory bone lesions associated with AIBDs exhibit chronic inflammation, are typically culture-negative, and do not exhibit discernible microorganisms on histopathological examination.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology, School of Medicine of Ribeirão Preto, University of São Paulo.
Cherubism is a rare fibro-osseous disease characterized by the progressive expansion of the mandible and maxilla during childhood. Orbital involvement occurs in a subset of patients and is clinically manifested as upward displacement of the affected eye. The bony changes tend to spontaneously diminish or even regress after puberty.
View Article and Find Full Text PDFOphthalmology
October 2024
Institute of Ophthalmology & Visual Science, Rutgers New Jersey Medical School, Newark, New Jersey.
Cureus
July 2024
Department of Radiology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
The growth of the jaw occurs painlessly in cherubism, a rare genetic disorder where normal bone is replaced by fibrous tissue and undeveloped bone. Usually running in families, this non-cancerous genetic condition naturally reaches a limit and stops growing. The main characteristic is the aberrant growth of osseous and fibrous tissue in the maxilla and mandible, which is frequently seen in children.
View Article and Find Full Text PDFInt J Mol Sci
August 2024
Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.
Ramon syndrome (MIM 266270) is an extremely rare genetic syndrome, characterized by gingival fibromatosis, cherubism-like lesions, epilepsy, intellectual disability, hypertrichosis, short stature, juvenile rheumatoid arthritis, and ocular abnormalities. Hereditary or non-syndromic gingival fibromatosis (HGF) is also rare and considered to represent a heterogeneous group of disorders characterized by benign, slowly progressive, non-inflammatory gingival overgrowth. To date, two genes, and , have been linked to Ramon syndrome.
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