Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content + • Autosomal dominant syndrome• Multiple GI non-neoplastic hamartomas• Predisposition to cancers• Characteristic mucocutaneous pigmentation: Dark, macular lesions on mouth, buccal mucosa, lips, anus• Polyps occur primarily in jejunum and ileum• Can act as lead point for intussusception due to obstruction +++ Epidemiology + • Familial autosomal dominant• Mapped to chromosome 19p13.3, encodes serine/threonine kinase• Carriers of the gene predisposed to a number of early-onset cancers• Increased risk of GI and gonadal, breast, pancreas, and biliary cancers +++ Symptoms and Signs + • Mucocutaneous lesions present from birth• Cutaneous lesions may involve buccal mucosa and may extend beyond vermillion border of the lips +++ Laboratory Findings + • Polyps: Hamartomas consist of supportive framework of smooth muscle tissue covered by hyperplastic epithelium + • Neoplasms of small bowel:-Adenocarcinoma-Carcinoid tumor-Leiomyoma/leiomyosarcoma +++ When to Admit + • Complications from polyps:-Intussusception-Obstruction-Bleeding +++ Surgery + • Removal of polyps -Endoscopic techniques should be used when possible +++ Indications + • Complete bowel obstruction• Intractable GI bleeding• Development of malignancy• Surgery may be required for intussusception caused by small-intestinal polyps +++ Treatment Monitoring + • Screening for gonadal tumors and breast cancer +++ Complications + • Intestinal obstruction• GI bleeding• Cancer of small bowel/colon (uncommon) +++ References ++Bond JH. Polyp guideline: diagnosis, treatment, and surveillance for patients with colorectal polyps. Practice Parameters Committee of the American College of Gastroenterology. Am J Gastroenterol. 2000;95:3053. [PubMed: 11095318] Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Download the Access App: iOS | Android Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.