Osteomatous jaw lesions in familial adenomatous polyposis

Resumen:

The first aim of this study is to assess the frequency of osteomatous jaw lesions in patients with a diagnosis of familial adenomatous polyposis (FAP), and a group of FAP-relatives from the FAP registry of Majorca (Balearic Islands, Spain). The second aim is to study the predictive significance of osteomatous jaw lesions in families with FAP. The study included forty-two people. Twenty-five patients and seventeen relatives. All individuals underwent pantomography. Osteomatous jaw lesions were diagnosed in 68% of FAP-patients, and 6% of FAP-relatives. The difference was statistically significant (p < 0.001). The sensitivity was 68%, the specificity 94% and positive predictive value 94%. This frequency of osteomatous jaw lesions agree with previous studies of FAP-patients (57-82%), but differ from these of the previous studies of FAP-relatives (16-18%). The available method detect APC (adenomatous polyposis coli) gene mutations in 48-82% of FAP families. In the families without detected mutation, non-informative study or non-available study, the screening is based in seriated sigmoidoscopy and study of the extraintestinals lesions of the FAP syndrome. The frequency of osteomatous jaw lesions in FAP-patients is greater than the observed in FAP-relatives (p < 0.001). Osteomas in families with FAP are of predictive significance.