GARDNER'S SYNDROME
 
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GARDNER'S SYNDROME

 

DEFINITION:

A disorder involving the colon characterized by masses of adenomatous polyps and extracolonic manifestations (bone and soft tissue tumors).

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • ?
  • risk factors:
    • familial - autosomal dominant
      • chrom.#: 5q21-22
      • gene: adenomatous polyposis coli (APC)

PATHOGENESIS:

1. Background

  • Familial Polyposis Disorder is classified into three disorders each associated with potentially-malignant adenomatous polyps:
  • 1. Familial Polyposis Coli (FPC)
  • 2. Gardner's Syndrome
  • 3. Turcot's Syndrome
  • the colonic manifestation (adenomatous polyposis) is common to all three disorders but the extracolonic manifestations differ
  • the main difference between FPC and Gardner's Syndrome is the greater degree of extracolonic manifestations (bone and soft tissue tumors) in the latter
  • these bone (ostemoas) and soft tissue tumors may present during childhood with the colonic polyps becoming apparent in early adult life
  • classic triad in Gardner's Syndrome:
    • colonic polyps
    • bone tumors
    • soft tissue tumors
  • see the file on "Familial Polyposis Coli" for notes on the genetic defect and the malignancy potential of adenomatous polyps

2. Other Gastrointestinal Manifestations

1. Desmoid Tumors:

  • of the abdominal wall occur in 1/3 of patients 1-3 yrs after colectomy
  • usually multiple and recur after excision

2. Mesenteric Fibromatosis:

  • a soft tissue tumor - indolent and slow-growing
  • occur in 17% usually after surgery but also sporadic
  • histology: infiltration of the mesentery and muscularis propria of the small intestine by connective tissue
  • may cause intestinal or ureteral obstruction and intestinal fistulae

3. Gastric Lesions:

  • see FPC - fundic gland polyps, adenomas, adenocarcinomas, microcarcinoids

CLINICAL FEATURES:

1. Gastrointestinal Manifestations

1. Painless Rectal Bleeding

  • +/- bloody diarrhea

2. Others

  • abdominal cramping +/- tenesmus
  • diarrhea +/- mucoid discharge

3. Complications

  • rectal prolapse, obstruction, perforation
  • malignancy potential: colonic carcinomas and gastro-duodenal tumors

2. Extracolonic Manifestations

1. Bone Tumors

  • osteomas of the skull (mandible) and long bones

2. Soft Tissue Tumors

  • desmoid tumor, fibromas, lipomas, neurofibromas, tricholemoma
  • epidermoid cysts
    • occur in 63-100% of patients
    • involve skull, face, arms, legs, testes
    • usually antedate appearance of colonic polyps

3. Dental

  • supernumary teeth, mandibular cysts, impaction

4. Other Neoplasms

  • papillary carcinoma - see FPC
  • adrenal adenomas and carcinomas
  • pancreas - Islet Cell tumors, carcinomas

INVESTIGATIONS:

1. Colonoscopy/Endoscopy

  • colon carpetted by 100's of small, sessile polyps
  • endoscopy for extracolonic lesions
  • biopsy - adenomas without inflammatory or cystic changes

2. Imaging Studies

  • barium enema with air contrast
  • skeletal x-rays for ostemoas

MANAGEMENT:

1. Surveillance

  • colonoscopy every 2 years after age 8-9
  • genetic counselling

2. Surgery

  • total proctocolectomy with terminal ileostomy or Kock proced.
  • subtotal colectomy with stripping of the rectal mucosa and anoileal anastomosis
  • rectal preservation is not recommended in children due to involvement of rectum

 

 

Pediatric Database - GARDNER'S SYNDROME

 

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