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 MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. 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 Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth