Presentation
Bilateral, progressive, painless lower facial swelling.
Patient Data
severe expansile enlargement with cystic lucencies involving the bilateral mandibular bodies, angles, and rami
thinning and scalloping of the cortical margin of both hemimandibles
similar, but less prominent, findings noted in the posterior aspect of the left hemimaxilla involving the posterior and inferior walls of the left maxillary sinus
mandibular teeth displacement
bilateral, symmetric, expansile mandibular lesions
mandibular and maxillary teeth displacement
Patient was noted to have had bilateral mandibular enlargement starting around 2 years of age.
Case Discussion
Cherubism is a rare familial disorder, most often due to an autosomal dominant mutation in the SH3BP2 gene on chromosome 4 1. The condition is characterized by painless, bilateral, symmetric mandibular bony overgrowths in children 2,3. As with this patient, the condition typically begins between 14 months to 4 years of age 4.
CT imaging will demonstrate bilateral, multilocular, expansile, lytic mandibular lesions, often with cortical thinning and tooth displacement 1-3.
The condition often stabilizes after puberty and may regress in adulthood 5. This patient's cherubism stabilized around 17 years of age, but did not show signs of regression.
In total, bilateral facial swelling in a child should raise suspicion for cherubism. Other differentials include central giant cell granuloma, fibrous dysplasia, or brown tumor.
This case is submitted in collaboration with Dr. Amanda Aguilera (Neuroradiology), Loma Linda University.
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