Cherubism

Vaillant, Jean; P, Romain; Divaris, M

doi:10.1016/s1010-5182(89)80103-9

Cited by 12 publications

(5 citation statements)

References 12 publications

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“…The patients were followed-up for 2 to 18 years and no recurrence was found in any of them. Both patients and authors were satisfied with the outcome and the authors suggest that thorough removal of affected tissue appears to arrest the proliferation of any remaining tumor tissue (18). In Etoz et al’s case report, systemic calcitonin therapy was advocated, and favorable results were achieved (19).…”

Section: Discussionmentioning

confidence: 98%

“…A dental prosthesis may improve the ability to chew and increase the self-esteem of the child. Orthodontic treatment is usually required after growth is completed and when cherubism is regressing (18). Surgical intervention is often necessary for severe functional disturbances (24).…”

Section: Discussionmentioning

confidence: 99%

“…In other instances actively expanding lesions in suspected cherubism may still be diagnosed in adults. Patients with aggressive, rapidly progressing cherubism should be evaluated by a craniofacial team consisting of a surgeon (oral and maxillofacial surgeon, plastic surgeon, otolaryngologist), geneticist/genetic counselor, ophthalmologist, dentist/orthodontist and child psychologist/ social worker and nurse (18). Papadaki et al (18) reported that mild forms of cherubism without facial dysmorphology, dental or ocular involvement may not require treatment as cherubism is expected to regress spontaneously after puberty.…”

Section: Discussionmentioning

confidence: 99%

“…Cherubism is a very rare disorder with only an estimated 300 cases reported in the literature. Because of its rarity, it is difficult to determine a disease frequency for this disorder (18). …”

Section: Introductionmentioning

confidence: 99%

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A c.1244G A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: Report of a family with review of the literature

Şekerci

Balta²,

Dündar³

et al. 2014

Med Oral

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Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histopathological laboratory tests and a review of the literature. Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A panoramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents were clinically normal. Peripheral blood was collected from all participants and genomic DNA sequencing was carried out. Results: A missense mutation was found in the two affected siblings and their asymptomatic mother. The mutation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9. Conclusions: The present study emphasized the importance of further clinical and molecular investigation even when only a single case of cherubism is identified within a family. Genotype-phenotype association studies in individuals with cherubism are necessary to provide important insights into the molecular mechanisms associated with this disease. Key words:Cherubism, mandible, maxilla, SH3BP2, gene analysis, CBCT.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%