[Birt-Hogg-Dube syndrome associated with intestinal polyposis].
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Primary gastrointestinal lymphoma is a rare condition. It constitutes approximately 5% of all lymphoid malignancies. Primary lymphomas of the intestinal tract rarely present as multiple polyposis. We describe such a patient who was treated with chemotherapy. The treatment of choice is surgery when possible. Chemotherapy is used in addition when high grade non-Hodgkin lymphoma is revealed. Chemotherapy should be used for patients who are unable to undergo curative resections. Prognosis is poor for patients with a non-resectable disease.
Recently a few cases of pigment epithelium hypertrophy associated with Gardner's syndrome and familial polyposis have been described. The authors report the results of an ophthalmoscopic investigation on patients affected by Gardner's syndrome and familial polyposis. The importance of the ophthalmoscopic finding associated with this type of intestinal pathology is discussed.
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Two cyclooxygenase isozymes catalyze conversion of arachidonic acid to prostaglandin H2: constitutive COX-1 and inducible COX-2. To assess the role of COX-2 in colorectal tumorigenisis, we determined the effects of COX-2 gene (Ptgs2) knockouts and a novel COX-2 inhibitor on Apc delta716 knockout mice, a model of human familial adenomatous polyposis. A Ptgs2 null mutation reduced the number and size of the intestinal polyps dramatically. Furthermore, treating Apc delta716 mice with a novel COX-2 inhibitor reduced the polyp number more significantly than with sulindac, which inhibits both isoenzymes. These results provide direct genetic evidence that COX-2 plays a key role in tumorigenesis and indicate that COX-2-selective inhibitors can be a novel class of therapeutic agents for colorectal polyposis and cancer.
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We describe a patient with multiple fibrofolliculomas (FF), tricodiscomas (TD) and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyps. One of the polyps presented histological features of marked dysplasia. This association may not be fortuitous and suggests that patients with multiple hamartomas of the perifollicular connective tissue should be examined periodically for intestinal polyps before malignancy develops.
A 40-year-old male chimpanzee had multiple intestinal polyps associated with immature male oxyurid parasites. The gross and histologic characteristics of these lesions were identical to those produced by Nochtia nochti in the stomach and esophagus of Old World primates. It was theorized that the lesions resulted from hypersensitivity to oxyurid infection in an aberrant host.
We present a case of Ruvalcaba-Myhre-Smith syndrome, which, to our knowledge, has not been reported in the radiologic literature. This rare entity is characterized by intestinal polyps, macrocephaly, and hyperpigmented genital macules. The differentiation of this syndrome from other polyposis syndromes is discussed.