Abstract
Other than the presence of adenomatous rectal polyps at proctoscopy, there is no satisfactory biomarker available for the early diagnosis of Familial Adenomatous Polyposis (FAP) in at-risk relatives of patients with the disease. Potential markers, such as mandibular osteomas, have not proved helpful as shown by Woods (1989). Recently, several authors’ (Berk 1988, Blair 1980, Diaz-Llopis 1988, Lewis 1984, Traboulsi 1987 and 1988) attention has turned to the lesions of congenital hypertrophy of the retinal pigment epithelium (CHRPE), which are present as solitary lesions in a small minority of the normal population but which have been reported as multiple lesions in some families with FAP. The aim of this study was to investigate the incidence of CHRPE in a number of kindreds with FAP, to assess its value as a possible biomarker for polyposis and to evaluate its association with extraintestinal manifestations of the disease.
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References
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Romania, A. et al. (1990). Congenital Hypertrophy of the Retinal Pigment Epithelium: A Clinical Marker for Familial Adenomatous Polyposis. In: Utsunomiya, J., Lynch, H.T. (eds) Hereditary Colorectal Cancer. Springer, Tokyo. https://doi.org/10.1007/978-4-431-68337-7_14
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DOI: https://doi.org/10.1007/978-4-431-68337-7_14
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