A Case of Early FAP Diagnosis with Extraintestinal Manifestations on the Face

Vasilios Thomaidis, Konstantinos Seretis, Gregory Tsoucalas, Konstantinos Razos, Anastasios Vasilopoulos, Gioultzan Memet Efenti, Aliki Fiska

Abstract


Objective. Gardner’s syndrome is a variant of familial adenomatous polyposis, characterized by gastrointestinal polyps, multiple osteomas, and skin and soft tissue lesions. Diagnosis by means of an understanding of its various symptoms is of great importance.

Case report. This report presents the case of a 32-year-old man with obvious asymmetry and disfigurement on his face, due to multiple osteomas and soft tissue lesions. These clinical signs prompted us to further investigation, leading to the diagnosis of a case of Gardner’s syndrome, with asymptomatic polyposis of the colon. Polyps have virtually an almost 100% risk of undergoing malignant transformation.

Conclusion. Early diagnosis and treatment of this pathological entity are crucial, while the presence of osteomas should alert us to this diagnosis.


Keywords


Gardner’s Syndrome; Osteoma; Polyposis of the Colon

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DOI: http://dx.doi.org/10.5644/ama2006-124.260

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