PEUTZ-JEGHERS SYNDROME
 
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PEUTZ-JEGHERS SYNDROME

 

DEFINITION:

A disorder involving the intestines characterized by masses of hamartomatous polyps, mucocutaneous pigmentation, and extraintestinal manifestations (tumors).

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • infancy -> childhood
  • risk factors:
    • familial - autosomal dominant
      • chrom.#: 19p13.3
      • gene: serine threonine kinase-11 (STK11)

PATHOGENESIS:

1. Background

  • there are two disorders associated with hamartomatous polyps in childhood:
  • 1. Peutz-Jeghers Syndrome
  • 2. Cowden's Disease

2. Hamartomatous Polyps

  • this particular type of polyp represents a developmental malformation affecting the glands and lamina propria of the intestinal wall
  • these lesions consist of essentially normal mucosal components arranged abnormally, hence the term hamartomatous
  • histologically, consist of a branching framework of connective tissue and smooth muscle lined by normal intestinal epithelium and containing numerous goblet cells

3. Malignancy Potential

  • patients may have a genetic predisposition to develop neoplasms
  • malignant transformation of hamartomatous polyps into carcinoma may occur in 2-3% of patients; may metastasize
  • sarcomatous transformation of hamartomatous polyps into leiomyosarcoma may also occur
  • it has been suggested that the gastrointestinal carcinomas do not arise from the harmartomatous polyps but from coexistent adenomas

4. Genetic Defect

  • genetic mutation of the STK11 gene -> disruption of the kinase domain -> diminished STK11 activity -> clinical manifestations
  • several mutations have been identified in the STK11 gene in patients with Peutz-Jeghers Syndrome including a deletion of exons 4 and 5, an inversion of exons 6 and 7, a nonsense mutation, and an acceptor splice-site mutation (Jenne, D.E. et al., Nature Genetics 18(1):38 (1998))

CLINICAL FEATURES:

1. Gastrointestinal Manifestations

1. Painless Rectal Bleeding

+/- bloody diarrhea

2. Others

  • abdominal pain - colicky, recurrent, secondary to intussusception

3. Complications

  • small bowel obstruction
  • malignancy potential: carcinoma of stomach, small intestine, colon

2. Mucocutaneous Pigmentation

  • appear in infancy or early childhood and tend to disappear during puberty
  • may be only clinical manifestation of syndrome
  • sites of involvement
    • common - lips, buccal mucosa, nasolabial folds
    • uncommon - hands, feet, rectal, perianal, genital

3. Extraintestinal Tumors

1. Benign

  • nasal, tonsils, thyroid, bronchial, breast, pancreas, adrenal, urinary tract (bladder), uterus, ovaries

2. Malignant

  • tongue, bilateral breast carcinoma, biliary tract, pancreas
  • gonadal neoplasia
  • sex cord tumors with annular tubules of the ovary or testis

4. Others

  • clubbing
  • occasional exostoses (overgrowth of bone -> benign tumor)

INVESTIGATIONS:

1. Colonoscopy/Endoscopy

  • procedures of choice?

2. Imaging Studies

  • barium enema with air contrast
  • upper GI series

3. Biopsy

  • hamartomatous polyps 0.1 -> 3 cm in diameter
  • distribution of polyps:
    • stomach (25%), colon (30%), small bowel (100%)
  • occur singly or muliply

MANAGEMENT:

1. Supportive

  • regular follow-up with neoplastic screening
  • watch for iron-deficiency anemia

2. Surgery

  • limited resections with polypectomy if indicated (i.e., for intussusception, bowel ischemia)
  • for extraintestinal tumors

 

 

 

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