eMedicine Specialties > Pediatrics: General Medicine > Gastroenterology

Intestinal Polyposis Syndromes: Differential Diagnoses & Workup

Author: Ann Scheimann, MD, MBA, Associate Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution
Contributor Information and Disclosures

Updated: Jan 29, 2010

Differential Diagnoses

Cronkhite-Canada Syndrome
Gorlin Syndrome
Hepatoblastoma
Medulloblastoma
Multiple Endocrine Neoplasia

Other Problems to Be Considered

Vascular lesions of the gut (eg, blue rubber bleb nevus)
Hereditary nonpolyposis colon cancer
Intussusception
Rectal prolapse
Cowden syndrome
GI bleeding

Workup

Laboratory Studies

The following studies are indicated in patients with intestinal polyposis syndromes:

  • CBC count with differential and platelets 
  • Stools for occult blood
  • Prothrombin time/activated partial thromboplastin time (if significant bleeding is present) 
  • Serum albumin levels (if weight loss is present) 
  • Genetic testing
    • Band 5q21-22 for Gardner syndrome (ie, familial adenomatous polyposis [FAP])
    • Band 7p22, 5q21-22, and 3p21.3 for Turcot syndrome
    • Band 19q13.3-13.4 for PJS
    • Band 10q23.3 for Bannayan-Riley-Ruvalcaba syndrome (BRR) and Cowden disease
    • Band 9q22.3-q31 for Gorlin syndrome (GS)
  • Fecal alpha1-antitrypsin or fecal calprotectin (if albumin is low and weight loss is present; to evaluate for protein-losing enteropathy)
  • Levothyroxine (T4), triiodothyronine (T3), thyroid-stimulating hormone (TSH), thyroid antimicrosomal or thyroid peroxidase antibody to exclude Hashimoto thyroiditis in individuals with symptomatic Bannayan-Riley-Ruvalcaba syndrome
  • Liver function tests and alpha-fetoprotein level to screen for hepatoblastoma in patients with suspected Gardner syndrome and an abdominal mass; electrolytes, plasma or urine cortisol, and adrenocorticotropic hormone (ACTH) in patients with suspected Gardner syndrome if Cushing syndrome is present

Imaging Studies

  • Upper GI with small bowel followthrough (SBFT) is used to evaluate for polyps. 
  • Air-contrast barium enema (BE) is used to evaluate for colonic polyps.
  • Additional imaging studies in patients with Gardner syndrome may include the following: 
    • Radiographs of the skull, teeth, and mandible to screen for osteomas and plan management of dental anomalies
    • Endoscopic retrograde cholangiopancreatography (ERCP) or magnetic resonance cholangiopancreatography (MRCP) to evaluate biliary tree for polyps and carcinoma, if clinical suspicion warrants 
    • CT scanning, ultrasonography, or MRI of the abdomen to evaluate abdominal masses (hepatoblastoma, adrenal carcinoma, mesenteric fibromas/desmoids)
  • In patients with Turcot syndrome, CNS imaging, GI imaging, and other imaging modalities are indicated if Gardner syndrome is suspected, as clinically warranted.
  • Imaging studies in patients with Peutz-Jeghers syndrome include the following:
    • Perform routine screening, mammogram, and breast ultrasound for early detection of occult neoplasms.
    • Perform ultrasonography or CT scanning of the pelvis or testicles to screen for possible malignancies in patients with conditions such as gynecomastia and precocious puberty.
  • Imaging studies in patients with Bannayan-Riley-Ruvalcaba syndrome include the following:
    • In patients with PTEN mutations, routine surveillance for occult breast neoplasms is warranted.
    • Perform CNS imaging to exclude occult malignancy, if clinical suspicion warrants.
  • Imaging studies in patients with Gorlin syndrome include the following:
    • Perform radiography of the mandible, ribs, and spine to diagnose and treat anomalies.
    • Perform CNS imaging to exclude hydrocephalus and medulloblastoma if warranted by clinical evaluation.
    • Perform imaging of the ovaries to exclude pathologic conditions of the ovaries in women with suggestive symptoms.
    • Patients with Gorlin syndrome should not require SBFT or BE for detection of polyps (only gastric polyps have been reported).
    • In a series of 105 patients with Gorlin syndrome, Kimonis et al reported the following radiologic findings:23
      • Calcification of the falx cerebri (65%)
      • Bridged sella (68%)
      • Flame-shaped lucencies in the phalanges, carpals, and metacarpals (30%)
      • Bifid ribs (26%)
      • Calcification of the tentorium cerebri (20%)
      • Hemivertebrae (15%)
      • Fused vertebral bodies (10%)
    • In patients with Cowden disease, perform the following:
    • Routine breast imaging to screen for neoplasia (75% percent of females)
    • Imaging of the thyroid, if suggestive of malignancy
    • Imaging of the ovaries, if suggestive of malignancy
    • MRI of the head, if symptomatic
    • Radiography of the spine to monitor for scoliosis

Other Tests

  • All patients with polyposis syndromes require serial endoscopy to evaluate for the degree of polyposis and survey for malignant transformation. Patients with congenital heart disease, vascular grafts, or valvular replacements may require subacute bacterial endocarditis (SBE) prophylaxis.

Procedures

  • Perform upper endoscopy or colonoscopy to evaluate GI polyposis and perform surveillance for malignant transformation. Patients with congenital heart disease may require SBE prophylaxis.
  • In patients who have Peutz-Jeghers syndrome and chronic sinusitis, endoscopic evaluation for possible nasal polyposis may be required. Squamous cell carcinoma has been reported in a patient with Peutz-Jeghers syndrome and nasal polyps.
  • In patients with Gorlin syndrome, skin biopsies may be required to exclude basal cell carcinomas.
  • In patients with Cowden disease, biopsies of suspicious lesions that show on the mammogram are warranted to exclude neoplasia, and biopsies of other suspicious areas are indicated to exclude malignancy.

Histologic Findings

  • Gruber et al characterized Peutz-Jeghers syndrome hamartomas with an elongated frondlike epithelium possessing cystic dilatation of glands containing hypermucinous goblet cells atop a network of smooth muscle bundles.35 Patients with Bannayan-Riley-Ruvalcaba syndrome (BRR) and Cowden disease also present with hamartomatous intestinal polyps. In contrast, other forms of juvenile polyposis consist of abundant lamina propria without the presence of smooth muscle bundles. Inflammatory polyps contain a well-differentiated mature epithelial layer with a smooth dome but lobulated appearance due to cyst formation without smooth muscle bundles.
  • Adenomatous polyps, found in patients with Gardner syndrome and Turcot syndrome, vary in size, ranging from single crypt adenomas to microadenomas of 2-5 crypts in size to sessile tubular adenomas visualized at endoscopy. Adenomas are composed of immature epithelial cells with increased proliferation rates above crypt requirements. Increased growth in size of adenomas enhances the formation of dysplasia. No smooth muscle bundles are present in adenomatous polyps.

More on Intestinal Polyposis Syndromes

Overview: Intestinal Polyposis Syndromes
Differential Diagnoses & Workup: Intestinal Polyposis Syndromes
Treatment & Medication: Intestinal Polyposis Syndromes
Follow-up: Intestinal Polyposis Syndromes
References
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Further Reading

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Keywords

intestinal polyposis syndromes, Gardner syndrome, familial adenomatous polyposis, FAP, Turcot syndrome, Peutz-Jeghers syndrome, Cronkhite-Canada syndrome, Cowden disease, multiple hamartoma syndrome, Gorlin syndrome, medulloblastoma, treatment, symptoms

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Contributor Information and Disclosures

Author

Ann Scheimann, MD, MBA, Associate Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution
Ann Scheimann, MD, MBA is a member of the following medical societies: North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: Nothing to disclose.

Medical Editor

Jayant Deodhar, MD, Associate Professor in Pediatrics, BJ Medical College, India; Honorary Consultant, Departments of Pediatrics and Neonatology, King Edward Memorial Hospital, India
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Stefano Guandalini, MD, Director, University of Chicago Celiac Disease Program, Section Chief of Gastroenterology, Hepatology and Nutrition; Professor, Department of Pediatrics, University of Chicago Comer Children's Hospital
Stefano Guandalini, MD is a member of the following medical societies: American Gastroenterological Association, European Society for Paediatric Gastroenterology, Hepatology & Nutrition, and North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: Nothing to disclose.

CME Editor

Steven M Schwarz, MD, FAAP, FACN, AGAF, Professor of Pediatrics, Children's Hospital at Downstate, SUNY-Downstate Medical Center
Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research
Disclosure: TAP Pharmaceuticals Honoraria Speaking and teaching; Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor

Chief Editor

Carmen Cuffari, MD, Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine
Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

 
 
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