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