Cherubism: a rare case report with literature review

Abstract

Cherubism is an autosomal dominant disorder caused by a mutation of the gene encoding the binding protein SH3BP2. However, non-hereditary forms are observed, probably related to a de novo mutation. It is clinically manifested by an enlargement or a deformation of the jaw associated with a malposition of the teeth. In severe forms, these deformations can have a psychological impact, associated with ocular complications, as well as a reduction of the pharynx lumen and phonation disorders. The appearance of the lesions on imaging is not very specific, however it remains essential for the mapping of the lesions. We report a case of cherubism in a 12-year-old boy with no family history. This case report's objective is to identify the radiological aspect of this pathology and establish an early diagnosis to oriented therapeutic interventions.

Keywords

• Genetic disorder
• Dysmorphism
• Dysplasia
• Bone abnormality