A Differential Diagnosis of a Head and Neck Bony Lesion: Review of a Case Series with 18 Patients with Extra-Intestinal Features of Familial Adenomatous Polyposis

Abstract

We would like to draw to the attention of head and neck surgeons the following disease that can present first to head and neck specialists with either a head and neck lump or following an incidental finding on radiological imaging. Familial Adenomatous Polyposis (FAP) is a hereditary disease caused by a mutation in the APC gene on chromosome 5, which is inherited in an autosomal dominant fashion with complete penetrance but variable expression(1). However in approximately 25% of cases it arises from a de novo mutation of the APC gene(1).

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