Potential identification of previously unrecognized gardner syndrome during radiologic examination: a case report

ConclusionsA 15-year-old Caucasian male was referred to the oral and maxillofacial radiology clinic for radiologic evaluation of a left posterior mandibular radiolucency. The patient complained of pain at the site. His medical and dental histories was positive for biopsy of multiple epidermoid cysts, a fibrous tissue mass on the lower back, and 2 odontomas. Thus far, the patient had not been identified to be at risk for Gardner syndrome. Panoramic and cone beam computed tomography (CBCT) radiographs were made and showed nonuniform hyperdensities throughout the jaws, impacted teeth, and a well-defined, multilocular, radiolucent lesion at the angle of the left mandible demonstrating expansion. Impressions favored a benign aggressive entity of the left mandibular angle, and biopsy was recommended. The biopsy results were consistent with desmoplastic fibroma. Surgical resection was performed. Based on the collective findings, the diagnosis of Gardner syndrome was proposed. The patient was referred for genetic counselling and genetic testing for himself and his immediate family members. The results of molecular diagnosis are pending. Identification of FAP-related clinical and radiographic manifestations is crucial to early identification of FAP, which has important considerations in periodic evaluation for colon neoplasms and surgical prophylaxis. Early referral by an attentive radiologist can increase the opportunity for more effective disease management.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research