Govaresh
Volume:8 Issue: 4, 2004

IntroductionDue to the whole network of polyposis registers worldwide and early prophylactic treatment, survival of familial adenomatosis (FAP) patients is improved. Extracolonic manifestations are remarkable feature of FAP. Two extracolonic manifestations (duodenal adenomatosis, leading duodenal cancer and desmoidtumours) play a very important role in the reasons of death in polyposis population.Materials and methodsData from the Lithuanian Polyposis Register, containing 90 FAP cases from 38 unrelated families (as stated on 2004.01.01) was used. Indirect ophthalmoscopy (fundoscopy) was performed on 19 FAP patients, orthopantomography - on 22, upper gastrointestinal tract endospopy on 21, distal small bowel examined in11. 42 patients were examined for desmoid tumours and epidermoid cysts.ResultsIn 18 (94.7%) of 19 examined CHRPE was detected, in 15 (68.2%) of 22 -mandibular osteomas. Out of 21 examined, 3 (14.3%) had fundic gland polyposis and 14 (66.7%) duodenal adenomas. Distal ileal polyposis was present in 8 (72.7%) of the 11 patients. Out of 42 live FAP patients, 4 (7.1%) had desmoid tumours and 8 (14.3%) had epidermoid cysts.ConclusionsExtracolonic manifestations are typical in FAP. Some of them have negative impact on morbidity and mortality of FAP patients and demand special surveillance and treatmen

A fifteen-year-old Torkaman girl with Turner’s mosaic kariotype is presented. She has had congenital esophageal stenosis with severe dysphagia since birth and iron deficincy anemia in addition to other classical features of the syndrome. According to author''s knowledge this is the first report of a new congenital structural gastrointestinal anomaly with this disease