Cherubism: clinical evidence and therapy.
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.
Schultze-Mosgau
Stefan
S
Department of Oral and Maxillofacial Surgery, University of Erlangen-Nuremberg, Germany. stefan.schultze-mosgau@mkg.imed.uni-erlangen.de
Holbach
Leonard M
LM
Wiltfang
Joerg
J
D000328:Adult; D002636:Cherubism / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D015835:Ocular Motility Disorders / Q000209:etiology; D009915:Orbit / Q000601:surgery; D009916:Orbital Diseases / Q000175:diagnosis* / Q000601:surgery; D010027:Osteotomy; D011862:Radiography, Panoramic; D014057:Tomography, X-Ray Computed; D015050:Zygoma / Q000601:surgery