Cherubism in three siblings.

Area of Science:

• Genetics
• Oncology
• Pediatrics

Background:

• Cherubism is a rare autosomal, dominant bone disorder characterized by symmetrical jaw expansion.
• It belongs to the group of fibro-osseous lesions and shares histological similarities with giant-cell granuloma.
• The condition typically involves bone lesions and fibrous tissue expansion that increase before puberty and regress thereafter.

Observation:

• This study presents the first Hungarian medical literature discussion of cherubism in three siblings.
• The siblings exhibited clinical, radiological, microscopic, and genetic similarities, including an identical SH3BP2 gene mutation.
• The mutation was also identified in the mother's germ line, despite her lack of clinical manifestation.

Findings:

• Diagnosis was confirmed through consistent clinical presentation, radiological findings, histology, and genetic analysis.
• The affected siblings showed increased bone lesions and fibrous tissue expansion pre-puberty, followed by stabilization.
• The identical mutation in siblings and mother supports its dominant inheritance pattern, even with subclinical maternal presentation.

Implications:

• The findings underscore the importance of genetic testing in diagnosing cherubism, even in cases with varying clinical severity.
• The study supports a conservative management approach, advocating for observation ('wait and see') due to the condition's potential for regression.
• Surgical interventions like excochleation may be considered for cosmetic reasons or histological confirmation, as demonstrated in the presented cases.