ABSTRACT
Gardner syndrome is characterized by multiple colonic polyps and extracolonic osteomas. e colonic polyps predispose to the development of colonic carcinoma. Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas which have an increased risk of becoming malignant, especially in the breast, thyroid and uterus. In addition, up to half of all patients will suer from a multinodular goitre. Hereditary nonpolyposis colorectal cancer is frequently caused by the mutations of the MLH1 or MSH2 gene. ey are characterized by an increased risk of cancer due to impaired DNA mismatch repair. Familial adenomatous polyposis is an autosomal dominant condition characterised by the presence of abundant gastrointestinal polyps with malignant potential. Prophylactic colectomy is advised if more than 100 polyps are present. e patient in the nal question is suering from the autosomal dominant Peutz-Jeghers syndrome, which leads to hamartomatous polyps being present in the gastrointestinal tract. ese polyps have a predisposition to cause intussusception, which is where the small intestine invaginates into another section of the small intestine and can ultimately lead to obstruction.
