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From question on page 1552
At endoscopy, rectal hamartomatous polyps appeared as multiple pink or translucent sessile polyps, measuring less than 5 mm (fig 1A). On microscopic examination (fig 1B), the hamartomatous polyps consisted of hyperplastic dilated glands lined by mucin secreting cylindrical cells, lying in oedematous lamina propria, with smooth muscle fibres arborising between the crypts. A diagnosis of rectal hamartomatous polyposis in a patient with tuberous sclerosis complex (TSC) was made.
TSC is a rare dominantly inherited disorder characterised by the presence of hamartomas in multiple organs. Involvement of the gastrointestinal tract is unusual. Rectal hamartomatous polyposis has rarely been reported in the literature but its prevalence is probably underestimated. The polyps are asymptomatic and usually fortuitously discovered at endoscopy. They can sometimes be palpable during digital rectal examination. Rectal hamartomatous polyposis has no malignant potential. In the latest revised diagnostic criteria for TSC, it has been categorised in the minor features for diagnosis of this disease.
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