[Clinicopathologic study of a family cherubism].

Zhonghua Kou Qiang Yi Xue Za Zhi

Department of Pathology, Peking University School of Stomatology, Beijing 100081, China.

Published: November 2004

Objective: To investigate the clinicopathologic features of familial cherubism and its differentiation from other giant cell lesions in jaws and the results of surgical treatments with a long-term follow-up.

Methods: Four cases of familial cherubism were reviewed and their clinical and radiographic features, histopathologic appearance, biochemical markers and surgical treatments analysed.

Results: Clinically, cherubism was characterized by bilateral painless swelling of jaws, mandibular deformity was common. Radiographs showed multilocular radiolucencies with sclerotic thickening border. Histopathologically, numerous randomly distributed multinucleated giant cells and vascular spaces within a fibrous connective tissue stroma with or without eosinophilic collagen perivascular cuffing were shown. The lesion regressed without treatment in 1 cases. Curettage was performed in 3 cases with good results.

Conclusions: Cherubism can be diagnosed according to its typical clinical and radiographical features with a positive family history. It might regress without treatment. But surgery intervention is suggested to improve physiological function and to solve the psychologic problem of the patients.

Download full-text PDF

Source

Publication Analysis

Top Keywords

familial cherubism
8
surgical treatments
8
[clinicopathologic study
4
study family
4
family cherubism]
4
cherubism] objective
4
objective investigate
4
investigate clinicopathologic
4
clinicopathologic features
4
features familial
4

Similar Publications

Not All Chubby Cheeks Are Cute: A Case of Cherubism.

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 PDF

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.

View Article and Find Full Text PDF

Background: Cherubism is known as a very rare autosomal dominant familial disorder of childhood caused by a mutation in the SH3BP2 gene on 4p16.3. It has not yet been observed at birth and is usually diagnosed in children aged 2-7.

View Article and Find Full Text PDF

Cherubism (OMIM 118400) is a rare craniofacial disorder in children characterized by destructive jawbone expansion due to the growth of inflammatory fibrous lesions. Our previous studies have shown that gain-of-function mutations in SH3 domain-binding protein 2 (SH3BP2) are responsible for cherubism and that a knock-in mouse model for cherubism recapitulates the features of cherubism, such as increased osteoclast formation and jawbone destruction. To date, is the only gene identified to be responsible for cherubism.

View Article and Find Full Text PDF

Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and stunted growth. In 2018, Mehawej et al. described a patient with Ramon syndrome in whom a homozygous variant in ELMO2 was identified, suggesting that this gene may be the causative for this syndrome.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!