One hundred fifty-three members of 56 kindreds with familial adenomatous polyposis (FAP) underwent funduscopic examination for congenital hypertrophy of the retinal pigment epithelium (CHRPE). All patients underwent wide-angle fundus photography to document lesions, proctosigmoidoscopy to document polyps, and examination for extracolonic manifestations. Ninety-seven patients were diagnosed as h...

Lynch syndrome (LS) individuals are predisposed to a variety of cancers, most commonly colorectal, uterine, urinary tract, ovarian, small bowel, stomach and biliary tract cancers. The risk of extracolonic manifestations appears to be highest in MSH2 mutations carriers.We present a carrier case with a novel MSH2 gene mutation that clearly demonstrates the broad extent of LS phenotypic expression...

HYPOTHESIS Extracolonic manifestations have a major effect on the morbidity and mortality of patients with familial adenomatous polyposis following proctocolectomy. DESIGN Case review study. SETTING Colorectal unit, university-affiliated hospital. PATIENTS Fifty patients (25 males and 25 females) with familial adenomatous polyposis WHO underwent proctocolectomy between January 1988 and Oc...

Pouchitis is the most frequent complication of ileal pouch-anal anastomosis for treatment of ulcerative colitis. There are several possible explanations. Among them, we focus on the one that considers pouchitis as an extracolonic manifestation of ulcerative colitis. The aim of this study was to investigate the association between pouchitis and extra-intestinal manifestations (EIM), which are fr...

The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished mutations. Typical disease symptoms were observed in families who harboured m...

A panel of five multiallelic and highly informative dinucleotide CA repeat markers flanking the APC gene was used for presymptomatic diagnosis of familial adenomatous polyposis coli (FAP). Marker regions were amplified by PCR. DNA fragments were separated by electrophoresis in denaturing polyacrylamide gels and visualised by ethidium bromide staining. Two or more markers were found to be inform...

OBJECTIVE The purpose of this study is to evaluate the impact of extracolonic findings when screening is undertaken by CT colonography (CTC). MATERIALS AND METHODS We performed a retrospective cohort study of patients completing a screening CTC from August 2003 to June 2006 at Walter Reed Army Medical Center. Extracolonic findings were categorized using a CTC reporting and data system that cl...

Background In young patients, multiple osteomas in the jaw and sebaceous cysts are signs which usually precede the diagnosis of Gardner’s syndrome. It is the association of multiple colonic polyps (familial adenomatosis polyposis coli) and extracolonic findings. By the fourth decade of life the colonic polyps undergo malignant transformation. Case reports The oral manifestations are described i...

Whether presence or history of extracolonic primary malignancy is a risk for colorectal neoplasia is not fully known. In this study, 26,452 first-time colonoscopy cases were examined using a colonoscopy database. Among the analyzed subjects, 3,026 (11%) subjects had history or concomitance of extracolonic primary malignancy, while the remaining 23,426 subjects did not. Colorectal neoplasia was ...

Method There were a total of 463 cancers recorded in 239 patients from 150 families enrolled in the Lynch syndrome registry at MD Anderson Cancer Center. Each of these patients had a confirmed germline MMR mutation. Overall there were 218 (47.1%) colorectal and 245 (52.9%) extracolonic cancers. There was no difference in the total number of colorectal and extracolonic cancers in MLH1 mutation c...