Cherubism in siblings: A case report

Sarda, Dinesh; Kothari, Paras; Kulkarni, Bharati; Pawar, Prakash

doi:10.4103/0970-4388.31986

Cited by 8 publications

(9 citation statements)

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“…In addition to genetic factors, Caballero and Vinals [14] indicated other possible causes of cherubism such as mesenchymal alterations during jaw development, an odontogenic origin or even hormonal and traumatic factors. Today we know that a mutation in the gene encoding SH3BP2 plays a role in the disease [6,7,10,11,21]. There are indications that the gene SH3BP2 plays a role in regulating the increased osteoblast and osteoclast activities that are seen in normal tooth eruption, and point mutations in the gene could cause pathologic activation of osteoclasts [21, 31,36].…”

Section: Resultsmentioning

confidence: 99%

“…A molecular pathogenesis of cherubism has been proposed, with the detection of a mutation in the gene encoding SH3 - binding protein 2 (SH3BP2) [6,10,31] and possible degradation of the Msx-1 gene which is involved in the regulation of mesenchymal interaction during craniofacial morphogenesis [11]. It is believed that the different clinical manifestations of cherubism are due to the changes secondary to mutations or incomplete penetrance [10].…”

Section: Introductionmentioning

confidence: 99%

“…It is believed that the different clinical manifestations of cherubism are due to the changes secondary to mutations or incomplete penetrance [10]. …”

Section: Introductionmentioning

confidence: 99%

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Cherubism: Clinicoradiographic Features and Treatment

Lima¹,

Almeida²,

Cabral

2010

JOMR

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ObjectivesCherubism is a congenital childhood disease of autosomal dominant inheritance. This disease is characterized by painless bilateral enlargement of the jaws, in which bone is replaced with fibrous tissue. The condition has sui generis clinical, radiographic and histological features, of which the clinician should be aware for a better differential diagnosis in the presence of a fibro-osseous lesion affecting the bones of the maxillomandibular complex. The purpose of present paper was to review the literature and to report the most important aspects of cherubism in order to facilitate the study of this diseaseMaterial and MethodsLiterature was reviewed about cherubism, emphasizing the relevant clinicoradiographic features and treatment. Literature was selected through a search of PubMed and Scielo electronic databases. The keywords used for search were adolescent, cherubism, cherubism/physiopathology, cherubism/treatment, cherubism/radiography. A manual search of the reference lists of the identified articles and the authors' article files and recent reviews was conducted to identify additional publications. Those studies that described new features about cherubism were included in this review.ResultsIn total 44 literature sources were obtained and reviewed. Studies that described new features about cherubism physiopathology, diagnostics and treatment were reviewed.ConclusionsDespite the exceptions, cherubism is a clinically well-characterized disease. In cases of a suspicion of cherubism, radiographic examination is essential since the clinical presentation, the location and distribution of the lesions may define the diagnosis. Histopathological examination is complementary. Nowadays, genetic tests should be used for final diagnosis of cherubism.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cherubism: Clinicoradiographic Features and Treatment

Lima¹,

Almeida²,

Cabral

2010

JOMR

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“…1 Its pathogenesis is unknown but heredity plays an important role. 2,3 Some studies have reported cherubism to be a family pathology; however, both hereditary and nonhereditary cases have been described. 4,5 In this patient, there was no history of the disease in any of the family members, and therefore, it was a nonfamilial case.…”

Section: Discussionmentioning

confidence: 99%

Cherubism With Bilateral Mandible and Maxilla Involvement

Yu¹,

Gan³

et al. 2015

Medicine

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Cherubism is a rare, nonneoplastic, self-limiting fibro-osseous that occurs in children. Affected children usually appear normal at birth. Lesions are characterized by the replacement of bone with fibrovascular tissue containing many multinucleated giant cells. Most studies have reported cherubism to be familial and with bilateral involvement of the mandibles. The authors describe a nonfamilial case of cherubism, involving both the mandible and the maxilla, in a 4-year-old female child with slowly enlarging, painless, symmetrical swelling of both cheeks.Cherubism is a rare disease that is usually limited to the mandible, but the maxilla may be involved. Computed tomography scan and biopsy are helpful for early diagnosis.

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“…A molecular pathogenesis of cherubism has been proposed, with the detection of a mutation in the gene encoding SH3BP2[123] and possible degradation of the Msx-1 gene, which is involved in the regulation of mesenchymal interaction during craniofacial morphogenesis. [4] The most accepted theory regarding the pathogenesis of cherubism is its association with an autosomal dominant gene, i.e., family inheritance.…”

Section: Case Reportmentioning

confidence: 99%

Rare form of cherubism: Case report with review of literature

et al. 2013

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Cherubism was first described by Jones in 1933 as “familial multilocular cystic disease of jaws.” Renamed as cherubism in 1938 because of classical characteristics of full round cheeks and upward cast of the eyes to the angelic look of the cherubs immortalized by renaissance art. It is characterized by progressive painless bilateral swelling of jaws involving either maxilla or mandible producing chubby face. It is uncommon fibro-osseous disorder of bone. Mutation in the gene encoding SH3-binding protein 2 (SH3BP2) plays a role in the disease. There are indications that the gene SH3BP2 plays a role in regulating the increased osteoblast and osteoclast activities that are seen in normal tooth eruption and point mutations in the gene could cause pathologic activation of osteoclasts. The purpose of this paper is to present the uncommon form of cherubism and to review the clinicoradiographic, histopathologic features and treatment so as to facilitate diagnosis of disease.

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Cherubism in siblings: A case report

Cited by 8 publications

References 0 publications

Cherubism: Clinicoradiographic Features and Treatment

Cherubism: Clinicoradiographic Features and Treatment

Cherubism With Bilateral Mandible and Maxilla Involvement

Rare form of cherubism: Case report with review of literature

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