Authors: Fakir Mohan Debta , Kunal Agarwal , Priyanka Debta , Shelly Roy

Abstract

Background: Osteomas are benign, slow-growing bony tumors that usually occur as solitary, incidental findings. When multiple craniofacial osteomas are present, Gardner syndrome (GS), an Adenomatous Polyposis Coli-associated hereditary disorder, must be considered. Craniofacial osteomas may precede intestinal polyposis by several years, making them important early diagnostic indicators. However, attenuated GS and sporadic familial osteomas can present with similar features, creating a diagnostic dilemma. Early identification, genetic counselling, and surveillance are therefore essential to exclude delayed gastrointestinal or extracolonic manifestations.

Case presentation: We report two first-degree male relatives with multiple craniofacial osteomas but no systemic features. The proband, a 15-year-old boy, presented with mandibular, palatal, and paranasal swellings that were radiologically and histopathologically confirmed as compact osteomas. His 52-year-old father also exhibited multiple craniofacial osteomas, including mandibular and sinus involvement, but remained asymptomatic. Comprehensive systemic evaluation, including colonoscopy, abdominal imaging, dermatologic, and ophthalmologic examinations, was negative for intestinal polyposis or extracolonic manifestations.

Conclusion: These familial cases highlight the diagnostic dilemma between attenuated GS and sporadic familial osteomas. Genetic testing, counselling, and long-term surveillance are essential to exclude delayed gastrointestinal or systemic involvement.

Keywords: Craniofacial osteomas, Gardner syndrome, Attenuated phenotype, Familial osteomas