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Peutz-Jeghers Syndrome

  • • 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

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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]

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