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Cherubism

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1933, Jones (1933) first described familial occurrence of painless enlargement of the jaws in three siblings. Later in 1938, Jones (1938) reported observations on the same family under the title “familial multilocular cystic disease of the jaws” and coined the term “cherubism” after the cherubs of Renaissance art for the full round cheeks and the upward cast of the eyes giving the children a peculiarly grotesque, cherubic appearance.

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References

  • Adante, R. R., & Breen, G. H. (1996). Cherubism in a patient with Noonan’s syndrome. Journal of Oral and Maxillofacial Surgery, 54, 210–213.

    Article  Google Scholar 

  • Agrawal, A., Gupta, S. K., Saxena, P., et al. (2014). Non-familial cherubism: Clinical and radiological findings. BMJ Case Reports, April 2. [Published online]

    Google Scholar 

  • Ahmadi, A. J., Pirinjian, G. E., & Sires, B. S. (2003). Optic neuropathy and macular chorioretinal folds caused by orbital cherubism. Archives of Ophthalmology, 121, 570–573.

    Article  CAS  PubMed  Google Scholar 

  • Ayoub, A. F., & El-Mofty, S. S. (1993). Cherubism: Report of an aggressive case and review of the literature. Journal of Oral and Maxillofacial Surgery, 51, 702–705.

    Article  CAS  PubMed  Google Scholar 

  • Baskin, B., Boudin, S., & Ray, P. N. (2011). GeneReviews. Updated 1 Sept 2011. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1137/

  • Battaglia, A., Merati, A., & Magit, A. (2000). Cherubism and upper airway obstruction. Otolaryngology and Head and Neck Surgery, 122, 573–574.

    CAS  Google Scholar 

  • Caballero Herrera, R., & Vinals Iglesias, H. (1998). Cherubism: A study of three generations. Medicina Oral, 3, 163–171.

    Google Scholar 

  • Caffey, J., & Williams, J. L. (1951). Familial fibrous swelling of the jaws. Radiology, 56, 1–5.

    Article  CAS  PubMed  Google Scholar 

  • Carroll, A. L., & Sullivan, T. J. (2001). Orbital involvement in cherubism. Clinical & Experimental Ophthalmology, 29, 38–40.

    Article  CAS  Google Scholar 

  • Carvalho, V. M., Perdigã, P. F., Pimenta, F. J., et al. (2008). A novel mutation of the SH3BP2 gene in an aggressive case of cherubism. Oral Oncology, 44, 153–155.

    Article  CAS  PubMed  Google Scholar 

  • Carvalho, V. M., Perdigao, P. F., Amaral, F. R., et al. (2009). Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism. Oral Diseases, 15, 106–110.

    Article  CAS  PubMed  Google Scholar 

  • Colombo, F., Cursiefen, C., Neukam, F. W., et al. (2001). Orbital involvement in cherubism. Ophthalmology, 108, 1884–1888.

    Article  CAS  PubMed  Google Scholar 

  • De Lange, J., & Van den Akker, H. P. (2005). Clinical and radiological features of central giant-cell lesions of the jaw. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 99, 464–470.

    Article  PubMed  Google Scholar 

  • Dunlap, C., Neville, B., Vickers, R. A., et al. (1989). The Noonan syndrome/cherubism association. Oral Surgery, Oral Medicine, and Oral Pathology, 67, 698–705.

    Article  CAS  PubMed  Google Scholar 

  • Faircloth, W. J., Edwards, R. C., & Farhood, V. W. (1991). Cherubism involving a mother and daughter: Case reports and review of the literature. Journal of Oral and Maxillofacial Surgery, 49, 535–542.

    Article  PubMed  Google Scholar 

  • Hanna, N., Parfait, B., Talaat, I. M., et al. (2009). SOS1 a new player in the Noonan-like/multiple giant cell lesion syndrome. Clinical Genetics, 75, 568–571.

    Article  CAS  PubMed  Google Scholar 

  • Hatani, T., & Sada, K. (2008). Adaptor protein 3BP2 and cherubism. Current Medicinal Chemistry, 15, 549–554.

    Article  CAS  PubMed  Google Scholar 

  • Hitomi, G., Nishide, N., & Mitsui, K. (1996). Cherubism: Diagnostic imaging and review of the literature in Japan. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 81, 623–628.

    Article  CAS  PubMed  Google Scholar 

  • Imai, Y., Kanno, K., Moriya, T., et al. (2003). A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. The Cleft Palate-Craniofacial Journal, 40, 632–638.

    Article  PubMed  Google Scholar 

  • Jafarov, T., Ferimazova, N., & Reichenberger, E. (2005). Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. Clinical Genetics, 68, 190–191.

    Article  CAS  PubMed  Google Scholar 

  • Jiao, Y., Zhou, M., Yang, Y., et al. (2015). Cherubism misdiagnosed as giant cell tumor: A case report and review of literature. International Journal of Clinical and Experimental Medicine, 8, 4656–4663.

    PubMed  PubMed Central  Google Scholar 

  • Jones, W. A. (1933). Familial multilocular cystic disease of the jaws. The American Journal of Cancer, 17, 946–950.

    Article  Google Scholar 

  • Jones, W. A. (1938). Further observations regarding familial multilocular cystic disease of the jaws. British Journal of Radiology, 11, 227–240.

    Article  Google Scholar 

  • Jones, W. A., Gerrie, J., & Pritchard, J. (1950). Cherubism-familial fibrous dysplasia of the jaws. Journal of Bone & Joint Surgery, 32B, 334–347.

    Google Scholar 

  • Jones, W. A. (1965). Cherubism. Oral Surgery, 20, 648–653.

    Article  CAS  Google Scholar 

  • Kadlub, N., Vazquez, M.-P., Galmiche, L., et al. (2015). The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. Journal of Bone and Mineral Research, 30, 878–885.

    Article  CAS  PubMed  Google Scholar 

  • Katz, J. O., Dunlap, C. L., & Ennis, R. L. J. (1992). Cherubism: Report of a case showing regression without treatment. Journal of Oral and Maxillofacial Surgery, 50, 301–303.

    Article  CAS  PubMed  Google Scholar 

  • Kaugars, G. E., Niamtu, J., III, & Svirsky, J. A. (1992). Cherubism: Diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors. Oral Surgery, Oral Medicine, and Oral Pathology, 73, 369–374.

    Article  CAS  PubMed  Google Scholar 

  • Kleiber, G. M., Skapek, S. X., Lingen, M., et al. (2014). Odontogenic myxoma of the face: Mimicry of cherubism. Journal of Oral and Maxillofacial Surgery, 72, 2186–2191.

    Article  PubMed  Google Scholar 

  • Kömerik, N., Taş, B., & Önal, L. (2014). Cherubism. Head and Neck Pathology, 8, 164–167.

    Article  PubMed  Google Scholar 

  • Kozakiewicz, M., Perczynska-Partyka, W., & Kobos, J. (2001). Cherubism-clinical picture and treatment. Oral Diseases, 7, 123–130.

    CAS  PubMed  Google Scholar 

  • Lee, J. S., Tartaglia, M., Gelb, B. D., et al. (2005). Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. Journal of Medical Genetics, 42, e11–e15.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lo, B., Faiyaz-Ul-Haque, M., Kennedy, S., et al. (2003). Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. American Journal of Medical Genetics, 121A, 37–40.

    Article  PubMed  Google Scholar 

  • Mangion, J., Rahman, N., Edkins, S., et al. (1999). The gene for cherubism maps to chromosome 4p16.3. American Journal of Human Genetics, 65, 151–157.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Mortellaro, C., Bello, L., Lucchina, A. G., et al. (2009). Diagnosis and treatment of familial cherubism characterized by early onset and rapid development. The Journal of Craniofacial Surgery, 20, 116–120.

    Article  PubMed  Google Scholar 

  • Mukai, T., Ishida, S., Ishikawa, R., et al. (2014). SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss. Journal of Bone and Mineral Research, 29, 2618–2635.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Pérez-Sayáns, M., Barros-Angueira, F., & Suárez-Peñaranda, J. É. (2013). Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease. Head & Face Medicine, 9, 33–37.

    Article  Google Scholar 

  • Peters, W. J. N. (1979). Cherubism: A study of twenty cases from one family. Oral Surgery, 47, 307–311.

    Article  CAS  Google Scholar 

  • Ramon, Y., & Engelberg, I. S. (1986). An unusually extensive case of cherubism. Journal of Oral and Maxillofacial Surgery, 44, 325–328.

    Article  CAS  PubMed  Google Scholar 

  • Raposo-Amaral, C. E., de Campos Guidi, M., Warren, S. M., et al. (2007). Two-stage surgical treatment of severe cherubism. Annals of Plastic Surgery, 58, 645–652.

    Article  CAS  PubMed  Google Scholar 

  • Silver, E. C., de Souza, P. E. A., Barreto, D. C., et al. (2002). An extreme case of cherubism. The British Journal of Oral & Maxillofacial Surgery, 40, 45–48.

    Article  Google Scholar 

  • Southgate, J., Sarma, U., Townend, J. V., et al. (1998). Study of the cell biology and biochemistry of cherubism. Journal of Clinical Pathology, 51, 831–837.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Tiziani, V., Reichenberger, E., Buzzo, C. L., et al. (1999). The gene for cherubism maps to chromosome 4p16. American Journal of Human Genetics, 65, 158–166.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ueki, Y., Tiziani, V., Santanna, C., et al. (2001). Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nature Genetics, 28, 125–126.

    Article  CAS  PubMed  Google Scholar 

  • Yoo, S. H., Pineles, S. L., Jurrahy, B., et al. (2015). Ophthlmic manifestations of cherubism. Journal of AAPOS, 19, 70–72.

    Google Scholar 

  • Zohar, Y., Grausbord, R., Shabtai, F., et al. (1989). Fibrous dysplasia and cherubism as a hereditary familial disease: Follow-up of four generations. Journal of Cranio-Maxillo-Facial Surgery, 17, 340–344.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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Chen, H. (2017). Cherubism. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_39

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_39

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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