Cherubism: A Case Report with Surgical Intervention.
Cherubism is a rare benign, autosomal-dominant hereditary fibro-osseous condition predominantly affecting the jaws. Symmetrical cyst-like expansions of the jaws cause the characteristic facial swellings. The disease is often associated with severe malposition of teeth. The gene for cherubism is src homology 3 binding protein 2 (SH3BP2) located on chromosome 4p16.3. The repeated experience of this self-limiting disorder in affected individuals published in the medical literature has resulted in a wait-and-see strategy regarding therapeutic options. Indeed, cessation and regression of even large bone expansions can be expected in early adulthood. Nevertheless, severe facial disfiguring and functional impairment can make surgical intervention necessary. This report details the surgical procedures carried out in a patient with progressive and disfiguring jaw expansions at the end of adolescence, the mutation of SH3BP2 gene, and the limited effect of surgically assisted orthodontic tooth movement in a patient with disease-associated impaired tooth development and tooth eruption.
Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany rfriedrich@uke.de.
Reinhard E
RE
Friedrich
Department of Orthodontics, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
Hanna A
HA
Scheuer
Institute of Pathology, University of Münster, Münster, Germany.
Jozef
J
Zustin
Institute of Pathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
Tobias
T
Grob
D000848:Anodontia / Q000601:surgery; D002636:Cherubism / Q000473:pathology / Q000601:surgery*; D002648:Child; D015921:Dental Implants; D006801:Humans; D008297:Male; D009971:Orthodontics, Corrective; D014070:Tooth / Q000637:transplantation
D015921:Dental Implants
Cherubism; SH3BP2; bone tumour; giant cell granuloma; immunohistochemistry; jaw surgery; jaw tumour; mutation analysis