Cherubism: a systematic literature review of clinical and molecular aspects

Abstract

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.

Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw

“…In this case series, denosumab treatment has shown excellent results. Alternatively intra-lesional injection of corticosteroids, systemic calcitonin, and interferon has been reported for the treatment of central giant cell granulomas of the jaw; but, they have shown variable results (31,32). More recently, oral imatinib has been used for treatment of isolated central giant cell lesions and those associated with cherubism (33); however, the data are limited to case reports and small series.…”

Cherubism - Clinical case report and narrative review

“…Clinically, it presents as a volumetric enlargement of the mandible and maxilla, which is generally painless, firm on palpation and varies in relation to size and extension (Oliveira et al, 2008;Yalcin et al, 1999;Chrcanovic et al, 2020;López et al, 2016;Cariati et al, 2017). In the mandible, there is usually lesion at the angle up to the ascending branch and body of the mandible and the maxilla, affects the tuberosities (Oliveira et al, 2008).…”

“…The diagnosis is based on the clinical characteristics that accompany this deformity, in addition to complementary exams, such as panoramic radiography, computed tomography and magnetic resonance to observe tissues adjacent to the lesion (Chrcanovic et al, 2020;Marçolla et al, 2014;Cardoso et al, 2012;Beaman et al, 2004;Cariati et al, 2017).…”

“…It is considered a rare disease, with few reported cases and its etiology is still poorly understood (Oliveira et al, 2008;Yalcin et al, 1999;Marçolla et al 2014) although believed that a developmental disorder in the formation of the mesenchyme may be a possible cause (Yalcin et al, 1999). Some researchers (Oliveira et al, 2008;Yalcin et al, 1999) believe that its etiology is associated with the gene linked to the development of the maxillary and mandibular bones and agree that lesions regress spontaneously at puberty (Tiziani et al, 1999;Dias & Guedes, 1999;Chrcanovic et al, 2020;Cardoso et al, 2012, Beaman et al, 2004Cariati et al, 2017). The reason for this has not yet been established and the most likely hypothesis is that sex hormones act on bone cells and normalize the situation (Oliveira et al, 2008).…”

Evolución clínica del querubismo en un paciente pediátrico

“…El querubismo se describió por primera vez en 1933 por Jones; su nombre proviene de la similitud en las características faciales con mejillas prominentes que presentan los pacientes y los querubines de las pinturas en el periodo renacentista (1)(2)(3)(4)(5)(6).…”