eMedicine Specialties > Pediatrics: General Medicine > Gastroenterology

Intestinal Polyposis Syndromes: Follow-up

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

Updated: Nov 27, 2007

Follow-up

Further Inpatient Care

  • Patients with Gardner syndrome may require inpatient management for evaluation and treatment of suspicious lesions.
  • Patients with Turcot syndrome may require inpatient management for evaluation and treatment of potential malignancies within the CNS and GI tract.
  • Patients with PJS may require inpatient treatment of intussusception, significant GI bleeding, and evaluation for malignancy. Both invasive and noninvasive evaluations may be indicated, including endoscopy, biopsy, and resection for diagnosis, with treatment of associated medical issues (eg, anemia) as dictated by the clinical scenario.
  • Patients with BRR may require inpatient treatment of clinically significant lipomatous and vascular lesions resulting in compromised organ function or circulatory compromise. Patients with BRR may also require treatment of seizures and evaluation for suspected malignancy.
  • Patients with GS may need inpatient assessment of symptomatic cardiac fibromas, surgical correction of palatal abnormalities and scoliosis, and treatment of neoplasia.
  • Patients with Cowden disease may require inpatient treatment of CNS abnormalities and surgical treatment of malignancies.

Further Outpatient Care

  • Outpatient treatment for the patient with Gardner syndrome includes treatment of cutaneous cysts; symptomatic osteomas (eg, mandibular); dental anomalies; and diligent surveillance for neoplasia within the GI tract, liver (hepatoblastoma), thyroid, bone, and adrenal glands.
  • Outpatient treatment for the patient with Turcot syndrome includes surveillance for malignancy and treatment of complications within the GI tract, skin, and CNS.
  • Outpatient treatment for the patient with PJS includes monitoring for complications of GI polyposis, surveillance for underlying malignancies, and treatment of complications of disease, including short-bowel syndrome secondary to multiple bowel resection.
  • Outpatient treatment for the patient with BRR includes therapies for neurologic and developmental issues, management of thyroid disease, and surveillance and treatment of underlying malignancies.
  • Outpatient treatment for the patient with GS includes evaluation and treatment of ophthalmologic abnormalities (eg, strabismus, glaucoma), cleft lip and palate, odontogenic cysts, scoliosis, and cardiac fibromas. Patients with GS require lifetime surveillance for malignancies, including basal cell carcinoma (adolescence, adulthood), ovarian and uterine carcinoma, medulloblastoma and astrocytoma (early childhood), lymphatic and mesenteric cysts, and sarcomas.
  • Outpatient treatment for the patient with Cowden disease includes management of thyroid disease, scoliosis, and CNS abnormalities. Patients with Cowden disease have a predisposition for development of cerebellar, breast, skin (Merkel cell), and renal malignancies.

Transfer

  • Patients with polyposis may require transfer for diagnosis and treatment if appropriate support is not available.

Deterrence/Prevention

  • Patients with Gardner syndrome require routine surveillance for GI malignancy via guaiac cards in the asymptomatic patient and serial upper and lower endoscopies and small bowel evaluation.
  • Patients with Turcot syndrome require surveillance for malignant transformation within gastric and colonic polyps, cutaneous surveillance for basal cell carcinomas, and possible CNS malignancies.
  • PJS
    • In patients with PJS, establishment of surveillance programs for occult malignancies may permit early detection.
    • The development of gynecomastia of precocious puberty in a child with PJS merits further diagnostic investigation to exclude underlying testicular or gynecologic malignancy.
  • In patients with BRR, establishment of breast self-examination programs and routine mammography may allow early detection of pathologic conditions of the breast; however, 80% of patients are male.
  • GS
    • Patients with GS should minimize exposure to ultraviolet light and ionizing radiation to deter the development of basal cell carcinomas.
    • Establishment of skin self-examination programs may facilitate early detection of basal cell carcinomas.
    • Patients with GS should have ophthalmologic screening for glaucoma and cataracts.
    • Patients should have routine dental follow-up care if cysts are present within the jaw.
    • Women should undergo routine gynecologic examinations.
  • Cowden disease
    • Patients with Cowden disease have an increased risk for development of breast cancer. Early institution of screening programs and consideration of prophylactic mastectomy should be considered.
    • In addition, patients with Cowden disease are predisposed to the development of thyroid disease; complications from hamartomatous GI polyps; and cerebellar, skin, and renal malignancies.

Complications

  • Patients with Gardner syndrome may experience complications from malignancies and from benign lesions, such as mandibular osteomas or dental anomalies.
  • Patients with Turcot syndrome may experience complications from malignancies.
  • PJS
    • Patients may develop medical and surgical complications from GI polyps and malignancies. Some reports suggest that approximately one fourth of patients require laparotomy for small bowel intussusception by age 10 years.37
    • Repeated intestinal resections may result in short-bowel syndrome with total parenteral nutrition (TPN) dependence.
    • Patients with PJS have an increased risk for the development of malignancies within the GI tract, pancreas, breast, uterus, and testicles.
    • Complications from GI polyps and malignancies may reduce life expectancy.
  • BRR syndrome
    • Patients may develop medical and surgical complications from lipomas, vascular lesions, and malignancies.
    • Lipomas regress with advancing age; however, 2 children have died in early childhood with severe visceral lipomatosis.
    • Vascular lesions within the CNS have resulted in bleeding with impairment and chronic seizures. Vascular anomalies in other areas can compromise pulmonary function and result in high-output cardiac failure.
    • Patients with BRR have a higher incidence of CNS tumors and can develop metaplastic changes within hamartomatous GI polyps.
    • Mutations within PTEN, a tumor suppressor gene found in patients with BRR, may predispose to malignant transformation, especially thyroid and breast.
  • GS
    • Patients may experience complications from malignancies, cardiac fibromas, ophthalmologic abnormalities, and skeletal anomalies.
    • In patients with malignancies, ionizing radiation should be avoided, if possible, to deter the development of basal cell carcinomas.
    • Approximately 3% of patients with GS develop cardiac fibromas, requiring excision if symptomatic.
    • Routine ophthalmologic screening minimizes visual losses from strabismus, glaucoma, and cataracts.
  • Patients with Cowden disease may experience complications from hamartomatous polyps, thyroid disease, scoliosis, CNS abnormalities, and malignancies.

Prognosis

  • Patients Gardner syndrome have an increased incidence of malignancies, including gastric carcinoma, colonic carcinoma, periampullary carcinoma, biliary tract carcinoma, thyroid carcinoma, osteosarcomas, and adrenal carcinoma.
  • Patients with Turcot syndrome have an increased incidence of gastric and colonic carcinomas, basal cell carcinomas, and CNS malignancies.
  • Patients with PJS have increased morbidity and mortality rates that arise from the complications of GI polyps and potential development of malignancies.
  • Patients with BRR have increased morbidity and mortality rates because of complications of cutaneous lesions (eg, lipomas, arteriovenous malformations) and potential development of malignancies.
  • Patients with GS have an increased incidence of malignancies, which include basal cell carcinoma, sarcomas, ovarian carcinomas, medulloblastoma, and astrocytoma.
  • Patients with Cowden disease have an increased incidence of CNS abnormalities, as well as malignancies within the cerebellum, breast, skin, and kidneys.

Patient Education

  • Patients with Gardner syndrome should undergo routine medical examinations and endoscopic and radiologic evaluations for surveillance of potential malignancies.
  • Patients with Turcot syndrome should undergo routine medical examinations and learn surveillance methods for basal cell carcinomas, GI cancer, and breast cancer.
  • Routine screening of stools for occult blood and early institution screening for the detection of breast cancer (self-examination, mammography) may improve life expectancy in patients with PJS. The presence of gynecomastia or precious puberty in the patient with suspected PJS should prompt careful evaluation to exclude testicular or gynecologic malignancy.
  • Early institution of screening for the detection of breast cancer (self-examination, mammography) and awareness of the increased risk for development of malignancy may improve the life expectancy of patients with BRR.
  • Minimizing exposure to ultraviolet light and ionizing radiation in patients with GS may diminish the potential for development of basal cell carcinomas. Establishment of skin self-detection programs may permit early detection of basal cell carcinomas. Patients should undergo routine ophthalmologic, dental, gynecologic, and medical examinations.
  • Patients with Cowden disease should undergo routine medical examinations and learn methods of breast self-examination.
  • For excellent patient education resources, visit eMedicine's Endocrine System Center. Also, see eMedicine's patient education article Thyroid Problems.

Miscellaneous

Medicolegal Pitfalls

  • Failure to recognize and properly manage cardiac anomalies in patients with polyposis syndromes with appropriate SBE prophylaxis during endoscopy and colonoscopy presents a potential clinical pitfall.
  • Failure to establish routine surveillance strategies in patients with Gardner syndrome to evaluate for malignancy is a potential legal pitfall.
  • Failure to establish routine surveillance strategies in patients with Turcot syndrome to evaluate for malignancy and failure to recognize symptoms of underlying CNS tumors represent potential legal pitfalls.
  • Delay in diagnosis of intussusception in patients with PJS with high index of suspicion, failure to properly exclude the possibility of testicular or gynecologic malignancy in the child with gynecomastia or precocious puberty, and failure to initiate appropriate surveillance strategies for malignancies (eg, GI, breast) could prove problematic for the clinician.
  • Failure to establish early detection strategies for malignancies (eg, breast) is a potential legal pitfall involving patients with BRR.
  • Failure to establish routine ophthalmologic screenings for cataracts and glaucoma, failure to perform skin surveillance for basal cell carcinoma, and failure to recognize symptoms of potential malignancy in patients with GS represent potential legal pitfalls.
  • Failure to implement early detection strategies for malignancies (eg, breast) is a potential legal pitfall involving patients with Cowden disease.

Special Concerns

  • Patients with GS should minimize exposure to ionizing radiation, if possible, to deter the development of basal cell carcinomas.
 


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

Gardner syndrome, familial adenomatous polyposis, FAP, Turcot syndrome, Peutz-Jeghers syndrome, polyps-and-spots syndrome, Cronkhite-Canada syndrome, polyposis, skin pigmentation, alopecia, fingernail changes, juvenile polyposis coli, inflammatory polyps, Cowden disease, multiple hamartoma syndrome, Bannayan-Riley-Ruvalcaba syndrome, BRR, macrocephaly, multiple lipomas, hemangiomata, Bannayan-Zonana syndrome, Riley-Smith syndrome, Ruvalcaba-Myrhe-Smith syndrome, Gorlin syndrome, GS, basal cell nevus syndrome, Gorlin-Goltz syndrome, colonic polyposis, periampullary adenomas, papillary carcinoma of the thyroid, hepatoblastoma, osteoma, epidermal cyst, desmoid tumor, glioblastoma multiforme, medulloblastoma, gynecomastia, hamartomatous polyps, macrocephaly, limpomas, hemangiomata, nevoid basal cell carcinoma, palmar pits, cerebelloparenchymal disorder, Lhermitte-Duclos disease, glycogenic acanthosis, orocutaneous hamartomas, pulmonary hamartomas

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Contributor Information and Disclosures

Author

Ann Scheimann, MD, MBA, Assistant 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 Associate 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.com, Inc
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 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, State University of New York, Downstate Medical Center College of Medicine; Professor of Clinical Pediatrics, St George's University School of Medicine; Distinguished Lecturer, New York Medical College, School of Public Health; Chair and Consulting Staff, Department of Pediatrics, Long Island College Hospital
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: Nothing to disclose.

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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