Related Experiment Video
Updated: Sep 27, 2026
Clinical Efficacy of an Innovative Multidimensional Traction Therapy in Moderate Adolescent Idiopathic Scoliosis
Published on: February 10, 2026
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
Insights
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.
Abstract:
Cherubism is a hereditary childhood disease of autosomal dominant inheritance that is more common in the male sex. Some cases have also revealed a mutation of the gene FGF-RIII (fibroblast growth factor receptor III). The clinical picture of cherubism is characterized by painless symmetrical swelling of the mandible and polycystic destruction of the mandibular bone structure. Complications include delayed dentition, dental root resorption, malalignment of teeth, and impacted teeth. The disease progression comes to a halt of its own accord at the end of puberty. Spontaneous recoveries have been observed. Histologically, multinuclear giant cells with osteoclastic activity, which correspond to a giant cell granuloma, are found in fibrous stroma. It is generally agreed that decisions about surgical intervention should be considered carefully. A case report describes the course of the disease and therapy of a female patient with a periorbital manifestation of cherubism. The latero-orbital enlargement of the intraorbital and latero-orbital region of the zygomatic bone resulted in displacement of the orbital contents with a motility disorder of the eyes. The motility disorder was eliminated by reduction of the diseased hard tissue as well as by carrying out a modeling orbitotomy and by reconstructing an anatomically correct localized and irregular bilateral osseous structure of the zygomatic bone in the intraorbital and latero-orbital region.
