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cherubism
Pathology:
- excessive bone degradation of the upper & lower jaw, followed by development of fibrous tissue masses, which results in characteristic facial swelling
Genetics:
- autosomal dominant
- associated with mutations in SH3BP2 gene
Clinical manifestations:
1) swelling of the lower face begins about the 3rd or 4th year of life & progresses into adolescence
2) the enlargement may be exaggerated by enlargement of submandibular lymph nodes
3) swelling generally abates by 3rd decade of life
Radiology:
1) X-ray reveals multilocular cystic changes in the mandible & maxilla & often in the anterior ends of the ribs.
2) radiographic changes commonly persist into the 4th decade of life
Differential diagnosis:
- Caffey disease [1]
- in which x-ray appearance is different & involvement of the skeleton, e.g., the tibia, is more widespread
Management:
- benign self-limited condition
Related
SH3 domain-binding protein 2; 3BP-2 (SH3BP2 3BP2 RES4-23)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 118400
References
- OMIM :accession 118400