eMedicine Specialties > Pediatrics: General Medicine > Gastroenterology

Intestinal Polyposis Syndromes: Follow-up

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

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 Peutz-Jeghers syndrome (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 Bannayan-Riley-Ruvalcaba syndrome (BRR) may require inpatient treatment of clinically significant lipomatous and vascular lesions resulting in compromised organ function or circulatory compromise. Patients with Bannayan-Riley-Ruvalcaba syndrome may also require treatment of seizures and evaluation for suspected malignancy.
  • Patients with Gorlin syndrome (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 Peutz-Jeghers syndrome 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 Bannayan-Riley-Ruvalcaba syndrome includes therapies for neurologic and developmental issues, management of thyroid disease, and surveillance and treatment of underlying malignancies.
  • Outpatient treatment for the patient with Gorlin syndrome includes evaluation and treatment of ophthalmologic abnormalities (eg, strabismus, glaucoma), cleft lip and palate, odontogenic cysts, scoliosis, and cardiac fibromas. Patients with Gorlin syndrome 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.
  • In patients with Peutz-Jeghers syndrome, establishment of surveillance programs for occult malignancies may permit early detection. The development of gynecomastia of precocious puberty in a child with Peutz-Jeghers syndrome merits further diagnostic investigation to exclude underlying testicular or gynecologic malignancy.
  • In patients with Bannayan-Riley-Ruvalcaba syndrome, 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.
  • Patients with Gorlin syndrome 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 Gorlin syndrome 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.
  • 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

  • Gardner syndrome: Patients with Gardner syndrome may experience complications from malignancies and from benign lesions, such as mandibular osteomas or dental anomalies.
  • Turcot syndrome: Patients with Turcot syndrome may experience complications from malignancies.
  • Peutz-Jeghers syndrome
    • 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.39
    • Repeated intestinal resections may result in short-bowel syndrome with total parenteral nutrition (TPN) dependence.
    • Patients with Peutz-Jeghers syndrome 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.
  • Bannayan-Riley-Ruvalcaba 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 Bannayan-Riley-Ruvalcaba syndrome 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 Bannayan-Riley-Ruvalcaba syndrome, may predispose to malignant transformation, especially thyroid and breast.
  • Gorlin syndrome
    • 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 Gorlin syndrome 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 Peutz-Jeghers syndrome have increased morbidity and mortality rates that arise from the complications of GI polyps and potential development of malignancies.
  • Patients with Bannayan-Riley-Ruvalcaba syndrome have increased morbidity and mortality rates because of complications of cutaneous lesions (eg, lipomas, arteriovenous malformations) and potential development of malignancies.
  • Patients with Gorlin syndrome 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 Peutz-Jeghers syndrome. The presence of gynecomastia or precious puberty in the patient with suspected Peutz-Jeghers syndrome 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 Bannayan-Riley-Ruvalcaba syndrome.
  • Minimizing exposure to ultraviolet light and ionizing radiation in patients with Gorlin syndrome 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 subacute bacterial endocarditis (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 Peutz-Jeghers syndrome 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 Bannayan-Riley-Ruvalcaba syndrome.
  • 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 Gorlin syndrome 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 Gorlin syndrome 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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References

  1. Chargelaigue A. Des Polypes du Rectum. Thesis Paris. 1859.

  2. Turcot J, Despres JP, St Pierre F. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum. Sep-Oct 1959;2:465-8. [Medline].

  3. Baughman FA, List CF, Williams JR, et al. The glioma-polyposis syndrome. New England Journal of Medicine. 1969;281:1345-46. [Medline].

  4. Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Maandschr Geneesk. 1921;10:134-46.

  5. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med. Dec 22 1949;241(25):993, illust; passim. [Medline].

  6. Riley HD, Smith WR. Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics. 1960;26:293-300.

  7. Bannayan GA. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch Pathol. Jul 1971;92(1):1-5. [Medline].

  8. Lloyd KM 2nd, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. Jan 1963;58:136-42. [Medline].

  9. Weary PE, Gorlin RJ, Gentry WC Jr, Comer JE, Greer KE. Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol. Nov 1972;106(5):682-90. [Medline].

  10. Padberg GW, Schot JD, Vielvoye GJ, et al. Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol. May 1991;29(5):517-23. [Medline].

  11. Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis. Oct 12 2009;4:22. [Medline].

  12. Mahmoud NN, Dannenberg AJ, Bilinski RT, et al. Administration of an unconjugated bile acid increases duodenal tumors in a murine model of familial adenomatous polyposis. Carcinogenesis. Feb 1999;20(2):299-303. [Medline].

  13. Tops CM, Vasen HF, van Berge Henegouwen G, et al. Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. Am J Med Genet. Jul 15 1992;43(5):888-93. [Medline].

  14. Paraf F, Jothy S, Van Meir EG, et al. Brain tumor-polyposis syndrome: two genetic diseases?. J Clin Oncol. Jul 1997;15(7):2744-58. [Medline].

  15. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. Jan 8 1998;391(6663):184-7. [Medline].

  16. Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. Jan 1998;18(1):38-43. [Medline].

  17. Krush AJ, Giardello FM. Development of a genetics registry: Hereditary intestinal polyposis and hereditary colon cancer registry at the Johns Hopkins Hospital, 1973–1988. In: Herrera L. Familial Adenomatous Polyposis. New York, NY: Alan R Liss Inc; 1990:43-60.

  18. Farndon PA, Del Mastro RG, Evans DG, Kilpatrick MW. Location of gene for Gorlin syndrome. Lancet. Mar 7 1992;339(8793):581-2. [Medline].

  19. Burn J, Chapman P, Delhanty J, et al. The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J Med Genet. May 1991;28(5):289-96. [Medline].

  20. Nelen MR, Kremer H, Konings IB, et al. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet. Apr 1999;7(3):267-73. [Medline].

  21. [Guideline] Levin B, Lieberman DA, McFarland B, et al. Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. CA Cancer J Clin. May-Jun 2008;58(3):130-60. [Medline].

  22. Van Meir EG. "Turcot's syndrome": phenotype of brain tumors, survival and mode of inheritance. Int J Cancer. Jan 5 1998;75(1):162-4. [Medline].

  23. Kimonis VE, Goldstein AM, Pastakia B, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. Mar 31 1997;69(3):299-308. [Medline].

  24. Klemmer S, Pascoe L, DeCosse J. Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet. Oct 1987;28(2):385-92. [Medline].

  25. Bell B, Mazzaferri EL. Familial adenomatous polyposis (Gardner's syndrome) and thyroid carcinoma. A case report and review of the literature. Dig Dis Sci. Jan 1993;38(1):185-90. [Medline].

  26. Hanssen AM, Fryns JP. Cowden syndrome. J Med Genet. Feb 1995;32(2):117-9. [Medline].

  27. Talbot IC. Pathology. In: Phillips RKS, Spigelman AD, Thompson JPS, eds. Familial Adenomatous Polyposis and Other Polyposis Syndromes. Oxford UP;. 1994:15-35.

  28. Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med. Mar 30 1995;332(13):839-47. [Medline].

  29. Genevieve D, Walter E, Gorry P, et al. Gorlin syndrome presenting as prenatal chylothorax in a girl. Prenatal Diagnosis. 2005;25:997-9. [Medline].

  30. Peifer M. Cancer, catenins, and cuticle pattern: a complex connection. Science. Dec 10 1993;262(5140):1667-8. [Medline].

  31. Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. Jun 14 1996;85(6):841-51. [Medline].

  32. Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. Jun 14 1996;272(5268):1668-71. [Medline].

  33. Bale AE. Variable expressivity of patched mutations in flies and humans. Am J Hum Genet. Jan 1997;60(1):10-2. [Medline].

  34. Arch EM, Goodman BK, Van Wesep RA, et al. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet. Sep 5 1997;71(4):489-93. [Medline].

  35. Gruber SB, Entius MM, Petersen GM, et al. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res. Dec 1 1998;58(23):5267-70. [Medline].

  36. Hughes LJ, Michels VV. Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet. Aug 1 1992;43(6):1023-5. [Medline].

  37. Fuchs CS, Giovannucci EL, Colditz GA, et al. Dietary fiber and the risk of colorectal cancer and adenoma in women. N Engl J Med. Jan 21 1999;340(3):169-76. [Medline].

  38. Watanabe K, Kawamori T, Nakatsugi S, et al. Role of the prostaglandin E receptor subtype EP1 in colon carcinogenesis. Cancer Res. Oct 15 1999;59(20):5093-6. [Medline].

  39. Giardiello FM, Hamilton SR, Krush AJ, et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med. May 6 1993;328(18):1313-6. [Medline].

  40. Barnes CJ, Cameron IL, Hardman WE, Lee M. Non-steroidal anti-inflammatory drug effect on crypt cell proliferation and apoptosis during initiation of rat colon carcinogenesis. Br J Cancer. Feb 1998;77(4):573-80. [Medline].

  41. Bisgaard ML, Fenger K, Bulow S, et al. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat. 1994;3(2):121-5. [Medline].

  42. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med. Jun 1 1998;128(11):896-9. [Medline].

  43. Bodmer WF, Bailey CJ, Bodmer J, et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature. Aug 13-19 1987;328(6131):614-6. [Medline].

  44. Cantley LC, Neel BG. New insights into tumor suppression: PTEN suppresses tumor formation by restraining the phosphoinositide 3-kinase/AKT pathway. Proc Natl Acad Sci U S A. Apr 13 1999;96(8):4240-5. [Medline].

  45. DeCosse JJ, Miller HH, Lesser ML. Effect of wheat fiber and vitamins C and E on rectal polyps in patients with familial adenomatous polyposis. J Natl Cancer Inst. Sep 6 1989;81(17):1290-7. [Medline].

  46. Desai DC, Murday V, Phillips RK, et al. A survey of phenotypic features in juvenile polyposis. J Med Genet. Jun 1998;35(6):476-81. [Medline].

  47. Erkek E, Hizel S, Sanly C, et al. Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. J Am Acad Dermatol. Oct 2005;53(4):639-43. [Medline].

  48. Fernandez Seara MJ, Martinez Soto MI, Fernandez Lorenzo JR. Peutz-Jeghers syndrome in a neonate. J Pediatr. Jun 1995;126(6):965-7. [Medline].

  49. Friedl W, Meuschel S, Caspari R, et al. Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet. May 1996;97(5):579-84. [Medline].

  50. Gardner EJ. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am J Hum Genet. Jun 1951;3(2):167-76. [Medline].

  51. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. Apr 2006;4(4):408-15. [Medline].

  52. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). Mar 1987;66(2):98-113. [Medline].

  53. Hanssen AM, Werquin H, Suys E, Fryns JP. Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations. Clin Genet. Dec 1993;44(6):281-6. [Medline].

  54. Henney JE. From the Food and Drug Administration. JAMA. Mar 1 2000;283(9):1131. [Medline].

  55. Holt PR, Atillasoy EO, Gilman J, et al. Modulation of abnormal colonic epithelial cell proliferation and differentiation by low-fat dairy foods: a randomized controlled trial. JAMA. Sep 23-30 1998;280(12):1074-9. [Medline].

  56. Itoh H, Ohsato K, Yao T, Iida M, Watanabe H. Turcot's syndrome and its mode of inheritance. Gut. May 1979;20(5):414-9. [Medline].

  57. Jiang CY, Esufali S, Berk T, et al. STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients. Clin Genet. Aug 1999;56(2):136-41. [Medline].

  58. Jones KL, Smith DW, Harvey MA, et al. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. Jan 1975;86(1):84-8. [Medline].

  59. Kalgutkar AS, Crews BC, Rowlinson SW, et al. Aspirin-like molecules that covalently inactivate cyclooxygenase-2. Science. May 22 1998;280(5367):1268-70. [Medline].

  60. Lo Muzio L, Nocini PF, Savoia A, et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet. Jan 1999;55(1):34-40. [Medline].

  61. Lynch HT, Smyrk TC. Hereditary colorectal cancer. Semin Oncol. Oct 1999;26(5):478-84. [Medline].

  62. Macrae F. Wheat bran fiber and development of adenomatous polyps: evidence from randomized, controlled clinical trials. Am J Med. Jan 25 1999;106(1A):38S-42S. [Medline].

  63. Marsh DJ, Kum JB, Lunetta KL, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan- Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. Aug 1999;8(8):1461-72. [Medline].

  64. Marshall WH, Martin FI, Mackay IR. Gardner's syndrome with adrenal carcinoma. Australas Ann Med. Aug 1967;16(3):242-4. [Medline].

  65. Mastronardi L, Ferrante L, Lunardi P, Cervoni L, Fortuna A. Association between neuroepithelial tumor and multiple intestinal polyposis (Turcot's syndrome): report of a case and critical analysis of the literature. Neurosurgery. Mar 1991;28(3):449-52. [Medline].

  66. Matsumine A, Ogai A, Senda T, et al. Binding of APC to the human homolog of the Drosophila discs large tumor suppressor protein. Science. May 17 1996;272(5264):1020-3. [Medline].

  67. Mehenni H, Blouin JL, Radhakrishna U, et al. Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am J Hum Genet. Dec 1997;61(6):1327-34. [Medline].

  68. Mehenni H, Gehrig C, Nezu J, et al. Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. Am J Hum Genet. Dec 1998;63(6):1641-50. [Medline].

  69. Nelen MR, van Staveren WC, Peeters EA, et al. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet. Aug 1997;6(8):1383-7. [Medline].

  70. Phillips RKS, Spigelman AD, Thompson JPS. Familial Adenomatous Polyposis and Other Polyposis Syndromes. Oxford University Press; 1994.

  71. Ruschak PJ, Kauh YC, Luscombe HA. Cowden's disease associated with immunodeficiency. Arch Dermatol. Sep 1981;117(9):573-5. [Medline].

  72. Ruvalcaba RH, Myhre S, Smith DW. Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clin Genet. Dec 1980;18(6):413-6. [Medline].

  73. Solh HM, Azoury RS, Najjar SS. Peutz-Jeghers syndrome associated with precocious puberty. J Pediatr. Oct 1983;103(4):593-5. [Medline].

  74. Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell. Dec 3 1993;75(5):951-7. [Medline].

  75. Su LK, Vogelstein B, Kinzler KW. Association of the APC tumor suppressor protein with catenins. Science. Dec 10 1993;262(5140):1734-7. [Medline].

  76. Tejani Z, Batra P, Mason C, Atherton D. Focal dermal hypoplasia: oral and dental findings. Journal of Clinical Pediatric Dentistry. 2005;30:67-72. [Medline].

  77. Turnbull MM, Humeniuk V, Stein B, Suthers GK. Arteriovenous malformations in Cowden syndrome. Journal of Medical Genetics. 2005;42:e50. [Medline].

  78. van der Luijt RB, Tops CM, Khan PM, van der Klift HM. Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for familial adenomatous polyposis in a Dutch pedigree. Genes Chromosomes Cancer. Jul 1995;13(3):192-202. [Medline].

  79. Westerman AM, Entius MM, de Baar E, et al. Peutz-Jeghers syndrome: 78-year follow-up of the original family. Lancet. Apr 10 1999;353(9160):1211-5. [Medline].

  80. Wilson DM, Pitts WC, Hintz RL, Rosenfeld RG. Testicular tumors with Peutz-Jeghers syndrome. Cancer. Jun 1 1986;57(11):2238-40. [Medline].

  81. Winter HS. Intestinal Polyps. Pediatric Gastointestinal Disease. 1996;891-907.

  82. Zaheri S, Chong SK, Harland CC. Treatment of mucocutaneous pigmentation in Peutz-Jeghers with potassium titanyl phosphate (KTP) laser. Clinical and Experimental Dermatology. 2005;30:710-2. [Medline].

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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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