Diagnostic and Treatment Protocols for Peripheral Craniofacial Osteomas

Key findings from this study

This research indicates that:

• Craniofacial osteomas most frequently affect the frontal bone and are more prevalent in females than males.
• Genetic testing in this cohort revealed no pathogenic variants associated with Gardner syndrome or other syndromic conditions.
• Surgical management using approach selection based on lesion location and characteristics yielded no recurrences at 6-month follow-up.

Overview

This retrospective study established diagnostic and treatment protocols for craniofacial osteomas in 141 patients, integrating clinical imaging, surgical management strategies, and selective genetic evaluation to characterize lesion distribution, gender prevalence, and outcomes.

Methods and approach

Patients with craniofacial osteomas underwent clinical examination and three-dimensional computed tomography for diagnostic confirmation. Surgical excision employed direct, endoscopic, or bicoronal approaches selected based on lesion characteristics. Whole exome sequencing evaluated mutations in EXT1, EXT2, APC, MSH2, and MLH1 genes in patients with multiple large osteomas.

Results

The study identified 148 osteomas across 141 patients. The frontal bone represented the most frequent site at 60.1%, followed by parietal, mandibular, and occipital bones. Females accounted for 79.1% of the patient cohort. Genetic testing revealed no pathogenic variants associated with Gardner syndrome in screened individuals. No recurrences occurred during the 6-month postoperative follow-up period.

The predominance of frontal bone involvement aligns with established patterns of craniofacial osteoma distribution. The marked female predominance observed in this cohort suggests potential sex-based differences in osteoma development or clinical presentation. The absence of syndromic mutations in patients selected for genetic testing indicates that the majority of craniofacial osteomas in this series were sporadic rather than heritable lesions.

Implications

The systematic integration of cross-sectional imaging for diagnostic confirmation, selective surgical approach determination, and targeted genetic screening enables standardized management of craniofacial osteomas with favorable outcomes. The absence of Gardner syndrome mutations in this cohort supports risk stratification approaches that reserve comprehensive genetic evaluation for patients presenting with clinical indicators of syndromic disease, such as multiple or exceptionally large lesions.

The consistent favorable postoperative course and absence of recurrence validate the efficacy of the established surgical protocols. These findings provide a framework for clinical practice that balances diagnostic precision with judicious use of genetic testing resources. Future investigations into the mechanisms underlying the observed female predominance may clarify sex-related factors in osteoma pathogenesis.

Scope and limitations

This summary is based on the study abstract and available metadata. It does not include a full analysis of the complete paper, supplementary materials, or underlying datasets unless explicitly stated. Findings should be interpreted in the context of the original publication.