Unilateral cherubism in a family with a history of bilateral cherubism: Confirmed by SH3BP2 mutation

Frazier, John J; Sah, Shrawan Kumar; Reichenberger, Ernst; Liang, Hui

doi:10.4103/jomr.jomr_30_18

Cited by 2 publications

(1 citation statement)

References 2 publications

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“…In cherubism, the affected child appears normal at birth, but unilateral or bilateral painless swelling occurs at the age of 14 months to 12 years on average. Frazier et al [23] reported a case of unilateral swelling of the maxilla and mandible in an 8-year-old female patient. In the present case, an 8-year-old boy was affected by bilateral, painless swelling.…”

Section: Discussionmentioning

confidence: 99%

Cherubism in Saudi population: a rare case report

BOREAK,

HAMDI,

KORERI

et al. 2023

Braz. Dent. Sci.

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Cherubism is a rare hereditary benign fibro-osseous disorder characterised by bilateral swelling of the mandible and/or maxilla with varying severity of involvement. It occurs because of dominant mutations in SH3BP2 gene on the chromosome 4p16.3. On radiography cherubic lesions appear as multilocular cystic radiolucencies in the jaw bones giving a soap bubble appearance. These lesions usually heal by themselves by the time the patient attains puberty. Treatment is necessary only in aggressive cases where there is severe facial deformity or vital functions are hampered. Surgical corrections are preferred when the lesion is in its dormant phase. The aim of the present case report is to illustrate a case of cherubism in a 9-year-old Saudi boy which is a very rare occurrence as only 1 case of cherubism has been reported so far in the Saudi Arabian population.

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Section: Discussionmentioning

confidence: 99%

Cherubism in Saudi population: a rare case report

BOREAK,

HAMDI,

KORERI

et al. 2023

Braz. Dent. Sci.

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Cherubism: a systematic literature review of clinical and molecular aspects

Guimarães

Gomes

Gomez

2021

International Journal of Oral and Maxillofacial Surgery

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The purpose of this review was to integrate the clinical, radiological, microscopic, and molecular data of published cherubism cases, in addition to therapeutic approaches, to provide more concise information about the disease. An electronic search was undertaken in September 2019. Eligibility criteria included publications having enough clinical, radiological, and histological information to confirm the diagnosis. A total of 260 publications reporting 513 cherubism cases were included. Familial history was observed in 310/458 cases (67.7%). SH3BP2 mutations were reported in 101/108 cases (93.5%) and mainly occurred at protein residues 415, 418, 419, and 420. Retrospective clinical grading was possible in 175 cases. Advanced clinical grading was associated with tooth agenesis, but not with other clinical, radiological, and genetic features. Specific amino acid substitutions of SH3BP2 mutations were not associated with the clinical grading of the disease. 'Wait and see' was the most common therapeutic approach. In a small number of cases, drugs were used in the treatment, with variable response. In conclusion, there is no clear correlation between the genotype and the phenotype of the disease, but additional genomic and gene expression regulation information is necessary for a better understanding of cherubism.

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Unilateral cherubism in a family with a history of bilateral cherubism: Confirmed by SH3BP2 mutation

Cited by 2 publications

References 2 publications

Cherubism in Saudi population: a rare case report

Cherubism in Saudi population: a rare case report

Cherubism: a systematic literature review of clinical and molecular aspects

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