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Cherubism: clinical evidence and therapy
Stefan Schultze-Mosgau1, Leonard M Holbach, Joerg Wiltfang
1Department of Oral and Maxillofacial Surgery, University of Erlangen-Nuremberg, Germany. stefan.schultze-mosgau@mkg.imed.uni-erlangen.de
The Journal of Craniofacial Surgery
|March 7, 2003
Summary
Cherubism, a rare genetic disorder, causes painless jaw swelling and bone destruction in children. Surgical intervention requires careful consideration, especially in cases with orbital complications.
Area of Science:
- Genetics
- Pediatrics
- Oral and Maxillofacial Surgery
Background:
- Cherubism is an autosomal dominant hereditary condition primarily affecting the mandible.
- Mutations in the FGF-RIII gene have been identified in some cherubism cases.
- Characterized by painless, symmetrical jaw swelling and polycystic bone destruction.
Observation:
- Complications include delayed dentition, root resorption, and malocclusion.
- Disease progression typically stabilizes by puberty, with some spontaneous recoveries.
- Histopathology reveals multinucleated giant cells within a fibrous stroma, resembling giant cell granuloma.
Findings:
- A case report details a female patient with periorbital cherubism.
- Orbital and zygomatic bone enlargement caused exophthalmos and impaired eye motility.
- Surgical reduction and reconstruction successfully resolved the motility disorder.
Implications:
- Careful consideration is advised for surgical interventions in cherubism.
- Management of orbital manifestations requires specialized surgical techniques.
- Understanding cherubism's genetic basis and clinical course aids in patient care.