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- DOI 10.18231/j.jds.96348.1759140597
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CrossMark
Cherubism: A rare hereditary skeletal dysplasia manifesting as bilateral maxillofacial swellings – A case report and review of the literature
- Author Details:
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Naga Supriya Alapati *
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Chinmayee Mannava
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Ravikanth Manyam
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Swetha Pasupuleti
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Jyothi Sangineedy
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Kishore Moturi
Naga Supriya Alapati *
Chinmayee Mannava
Ravikanth Manyam
Swetha Pasupuleti
Kishore Moturi
Background: Cherubism is a rare, hereditary skeletal dysplasia, predominantly affecting children. It is characterized by painless, bilateral, symmetrical bony swellings localized to the maxillofacial region, often resulting in a distinctive "cherubic" appearance. The condition typically regresses spontaneously after puberty. Early diagnosis is essential for appropriate management and differentiation from other similar disorders.
Case Description: We report a case of an 11-year-old female child presenting with unilateral bony swelling in the maxillofacial region, which later evolved into bilateral lesions. Radiographic examination revealed bilateral multilocular cystic spaces, a hallmark feature of cherubism. Histopathology confirmed the diagnosis, showing perivascular eosinophilic cuffing around giant cells. The therapeutic approach for this patient was tailored to her specific functional and aesthetic needs, focusing on conservative management as spontaneous regression was expected.
Conclusion: Cherubism is a condition that requires a comprehensive approach for diagnosis, including clinical, radiological, and histopathological evaluation. Clinician awareness is crucial for distinguishing cherubism from other similar disorders. Early intervention can help manage functional and aesthetic concerns while monitoring for spontaneous regression during puberty.
References
- Al-Omar AF, Moussa BG, El-Dakrory UAERM. Cherubism: a case report and review of literature. Egyp J Oral Maxillofac Surg. 2015;6:62–5.
- Kaur M, Shah S, Babaji P, Singh J, Nair D, Kamble SS. Cherubism: A rare case report. J Nat Sci Biol Med. 2014;5(2):488-91.
- Prajapati VK. Non-familial Cherubism. Contemp Clin Dent. 2013;4(1):88–9.
- Rajendran R. Shafer’s Textbook of Oral Pathology. 5 th ed. New Delhi: Elsevier Publishers 2006. 979-83.
- Niranjan, Babita; Shashikiran, ND; Singla, Shilpy; Kasetty, Sowmya. Non-hereditary cherubism. J Oral Maxillofac Pathol. 2014;18(1):84–8.
- Cailleaux PE, Porporatti AL, Cohen-Solal M, Kadlub N, Coudert AE. Pharmacological management of cherubism: A systematic review. Front Endocrinol. 2023;14:1104025.
- Jones WA. Familial multilocular cystic disease of the jaws. Am J Cancer. 1933;17(4):946–50.
- Jones WA. Further observations regarding familial multilocular cystic disease of the jaws. Br J Radiol. 1938;11(124):227-41.
- Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ. Cherubism: best clinical practice. Orphanet J Rare Dis. 2012;7(Suppl 1):S6.
- Jiao Y, Zhou M, Yang Y, Zhou J, Duan X. Cherubism misdiagnosed as giant cell tumor: A case report and review of literature. Int J Clin Exp Med. 2015;8(3):4656–63.
- Chrcanovic BR, Guimarães LM, Gomes CC, Gomez RS. Cherubism: A systematic literature review of clinical and molecular aspects. Int J Oral Maxillofac Surg. 2021;50(1):43–53.
- Li CY, Yu SF. A novel mutation in the SH3BP2 gene causes cherubism: case report. BMC Medl Genet. 2006;7:1–7.
- Mani S, Natarajan B, Rajaram K, Sahuthullah YA, Gokulanathan S, Sitra G. Rare form of cherubism: Case report with review of literature. J Pharm Bioallied Sci. 2013;5(Suppl 2):S142–6.
- Sarda D, Kothari P, Kulkarni B, Pawar P. Cherubism in siblings: A case report. J Indian Soc Pedod Prev Dent. 2007;25(1):27–9.
- Sahu B, Anand R, Kumar S, Solanki RS, Mehra P, Jain M. A Pattern- based Imaging Approach to Pediatric Jaw Lesions. Indian J Radiol Imaging. 2021;31(1):210–23.
- Peñarrocha M, Bonet J, Mínguez JM, Bagán JV, Vera F, Mínguez I. Cherubism: a clinical, radiographic, and histopathologic comparison of 7 cases. J Oral Maxillofac Surg. 2006;64(6):924–30.
- Khandelwal S, Sood A, Parihar P, Mishra GV. Clinico-radiological features of cherubism. BMJ Case Rep. 2024;17(1):e258682.
- Matsumoto Y, Rottapel R. PARsylation-mediated ubiquitylation: lessons from rare hereditary disease Cherubism. Trends Mol Med. 2023;29(5):390–405.
- Mirmohammadsadeghi A, Eshraghi B, Shahsanaei A, Assari R. Cherubism: report of three cases and literature review. Orbit. 2015;34(1):33–7.
- Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, et al. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001;28(2):125–6.
- Atalar MH, Albayrak E, Erdinc P, Bulut S. Cherubism as a rare cause of bilateral expansion of the mandible: radiological manifestations. Hong Kong J Radiol. 2008;11(2):76–80.
- Yücel OT, Genç E, Kaya S. Cherubism: a radiological and clinical presentation. Turk J Pediatr. 1998;40(3):453–9.
- Lima Gde M, Almeida JD, Cabral LA. Cherubism: clinicoradiographic features and treatment. J Oral Maxillofac Res. 2010 Jul 1;1(2):e2.
- Hyckel P, Berndt A, Schleier P, Clement JH, Beensen V, Peters H, et al. Cherubism - new hypotheses on pathogenesis and therapeutic consequences. J Craniomaxillofac Surg. 2005;33(1):61–8.
- Kuruvilla VE, Mani V, Bilahari N, Kumar R. Cherubism: Report of a case. Contemp Clin Dent. 2013;4(3):356–9.
- Raposo-Amaral CE, de Campos Guidi M, Warren SM, Almeida AB, Amstalden EM, Tiziane V, et al. Two-stage surgical treatment of severe cherubism. Ann Plast Surg. 2007;58(6):645–51.
- Faircloth-Jr WJ, Edwards RC, Farhood VW. Cherubism involving a mother and daughter: case reports and review of the literature. J Oral Maxillofac Surg. 1991;49(5):535–42.
- Ayoub AF, el-Mofty SS. Cherubism: report of an aggressive case and review of the literature. J Oral Maxillofac Surg. 1993 Jun;51(6):702–5..
- Hitomi G, Nishide N, Mitsui K. Cherubism: diagnostic imaging and review of the literature in Japan. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1996;81(5):623–8.
- Yamaguchi T, Dorfman HD, Eisig S. Cherubism: clinicopathologic features. Skeletal Radiol. 1999;28(6):350–3.
- Kozakiewicz M, Perczynska-Partyka W, Kobos J. Cherubism-- clinical picture and treatment. Oral Dis. 2001;7(2):123–30.
- Ozkan Y, Varol A, Turker N, Aksakalli N, Basa S. Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature. Int J Pediatr Otorhinolaryngol. 2003;67(9):1005–12.
- Ongole R, Pillai RS, Pai KM. Cherubism in siblings: a case report. J Can Dent Assoc. 2003;69(3):150–4. Alapati et al. / Journal of Dental Specialities 2025;13(2):303-311 311
- Fonseca LC, de Freitas JB, Maciel PH, Cavalcanti MG. Temporal bone involvement in cherubism: case report. Braz Dent J. 2004;15(1):75–8.
- Gomes MF, de Souza Setúbal Destro MF, de Freitas Banzi EC, dos Santos SH, Claro FA, de Oliveira Nogueira T. Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features. Dentomaxillofac Radiol. 2005;34(5):313–8.
- Peñarrocha M, Bonet J, Mínguez JM, Bagán JV, Vera F, Mínguez I. Cherubism: a clinical, radiographic, and histopathologic comparison of 7 cases. J Oral Maxillofac Surg. 2006;64(6):924–30.
- Pontes FS, Ferreira AC, Kato AM, Pontes HA, Almeida DS, Rodini CO, et al. Aggressive case of cherubism: 17-year follow-up. Int J Pediatr Otorhinolaryngol. 2007;71(5):831К5.
- Mortellaro C, Bello L, Lucchina AG, Pucci A. Diagnosis and treatment of familial cherubism characterized by early onset and rapid development. J Craniofac Surg. 2009;20(1):116–20.
- Goyal V, Jasuja P. Cherubism: A case report. Int J Clin Pediatr Dent. 2009;2(3):49–52.
- Mehrotra D, Kesarwani A, Nandlal. Cherubism: case report with review of literature. J Maxillofac Oral Surg. 2011;10(1):64-70.
- Wagel J, Luczak K, Hendrich B, Guziński M, Sąsiadek M. Clinical and radiological features of nonfamilial cherubism: A case report. Pol J Radiol. 2012;77(3):53–7.
- Misra SR, Mishra L, Mohanty N, Mohanty S. Cherubism with multiple dental abnormalities: a rare presentation. BMJ Case Rep. 2014;2014:bcr2014206721.
- Tsodoulos S, Ilia A, Antoniades K, Angelopoulos C. Cherubism: a case report of a three-generation inheritance and literature review. J Oral Maxillofac Surg. 2014;72(2):405.e1-9.
- Elshafey R. Imaging of cherubism: case report and review of the literature. Tanta Med J. 2014;42(1):42–5.
- Degala S, Mahesh KP, Monalisha. Cherubism: A Case Report. J Maxillofac Oral Surg. 2015;14(Suppl 1):258–62.
- Mohammad Shakeel, Mohammad Imran, Munaza Shafi, Mudasar Ahad. Cherubism. Oral Maxillofac Pathol J. 2015;6(1):578–81.
- Kumar N, Dutta S, Pradhan S, Shrivastava H, Gopal J. Cherubism: A case report and review of literature. Int J Dent Health Sci. 2015;2(1):847-58.
- Shokri A, Khavid A. Cherubism: An Unusual Study with Long-Term Follow-Up. J Craniofac Surg. 2016;27(5):e511–2.
- Holley TJ, Giannini PJ, Narayana N, Desa VP. Early detection of cherubism with eventual bilateral progression: a literature review and case report. Oral Surg Oral Med Oral Pathol Oral Radiol. 2019;127(3):e77-e83.
- Sidorowicz W, Kubasiewicz-Ross P, Dominiak M. Familial cherubism: Clinical and radiological features. Case report and review of the literature. Eur J Paediatr Dent. 2018;19(3):213–17.
- Ram SG, Ajila V, Babu SG, Shetty P, Hegde S, Pillai DS. Cherubism: report of a case. J Health Allied Sci NU. 2021;11(02):104–6.
- Mizel SN, Al-Zubaidee AF. Cherubism: Case Report and Review of Literature. Diyala J Med. 2021. doi.org/10.26505/DJM.21015804049
[Google Scholar] - Lahfidi A, Traore WM, Diallo ID, Lrhorfi N, Elhaddad S, Allali N, Chat L. Cherubism: a rare case report with literature review. Radiol Case Rep. 2022;17(10):3971–3.
- McArthur M, Pierce J, Salamon N. Cherubism: A Case Report. UCLA Radiol Sci Proc. 2023;3(2):29–32.