eMedicine Specialties > Dermatology > Internal Medicine

Cowden Disease (Multiple Hamartoma Syndrome): Follow-up

Author: Charles Miller, MD, Chief, Department of Dermatology, Kaiser Permanente
Contributor Information and Disclosures

Updated: Aug 11, 2009

Follow-up

Further Outpatient Care

  • Annual or biannual follow-up visits are recommended, including history and physical examinations, as well as indicated laboratory or radiologic studies. Several physicians (if not a multidisciplinary team) should provide follow-up care.
  • Because CD is a familial cancer syndrome, all patients diagnosed with it should consider a consultation with a genetics counselor for more information (ie, should family members be informed and screened).

Complications

CD is associated with increased risk of breast and thyroid malignancies. Other cancers have been reported in CD, although the magnitude of the risk for those malignancies is not known. The following cancers have been reported:

  • Breast cancer in 20-36% of female patients and in 2 cases in male patients
  • Thyroid cancer 7% of patients (men more than women)
  • Colon cancer (2 cases)
  • Lung
  • Uterus (endometrial)13
  • Acute myelogenous leukemia
  • Transitional cell carcinoma of the bladder
  • Cervical carcinoma
  • Non-Hodgkin lymphoma
  • Osteosarcoma

Prognosis

At least 40% of CD patients have a minimum of 1 malignant primary tumor, although with long-term follow-up care, this number may be higher. Yen et al have reported patients with more than 1 malignancy.6 Many of the cancers are curable if detected early. Close follow-up care of these patients is necessary.

Patient Education

  • Counsel patients regarding the increased risk for malignancy, especially thyroid cancer and breast cancer, in women and the need for close follow up and cancer screening with their physicians.
  • Instruct patients about the early signs of the most common cancers for which they are at risk.
  • 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 the association of multiple trichilemmomas or sclerotic fibromas with CD. A biopsy report with either diagnosis suggests further physical examination and, probably, further biopsies should be done. Once diagnosed, alert patients to their increased risk for specific cancers and the need for at least annual examinations by a physician.

 


More on Cowden Disease (Multiple Hamartoma Syndrome)

Overview: Cowden Disease (Multiple Hamartoma Syndrome)
Differential Diagnoses & Workup: Cowden Disease (Multiple Hamartoma Syndrome)
Treatment & Medication: Cowden Disease (Multiple Hamartoma Syndrome)
Follow-up: Cowden Disease (Multiple Hamartoma Syndrome)
Multimedia: Cowden Disease (Multiple Hamartoma Syndrome)
References
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References

  1. Liaw D, Marsh DJ, Li J, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. May 1997;16(1):64-7. [Medline].

  2. Tok Celebi J, Chen FF, Zhang H, et al. Identification of PTEN mutations in five families with Bannayan-Zonana syndrome. Exp Dermatol. Apr 1999;8(2):134-9. [Medline].

  3. Schaffer JV, Kamino H, Witkiewicz A, et al. Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. Arch Dermatol. May 2006;142(5):625-32. [Medline].

  4. Fackenthal JD, Marsh DJ, Richardson AL, et al. Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet. Mar 2001;38(3):159-64. [Medline].

  5. Chen YM, Ott DJ, Wu WC, Gelfand DW. Cowden's disease: a case report and literature review. Gastrointest Radiol. 1987;12(4):325-9. [Medline].

  6. Yen BC, Kahn H, Schiller AL, et al. Multiple hamartoma syndrome with osteosarcoma. Arch Pathol Lab Med. Dec 1993;117(12):1252-4. [Medline].

  7. Loffeld A, McLellan NJ, Cole T, et al. Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. Br J Dermatol. Jun 2006;154(6):1194-8. [Medline].

  8. Lok C, Viseux V, Avril MF, et al. Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine (Baltimore). Mar 2005;84(2):129-36. [Medline].

  9. Van Calenbergh F, Vantomme N, Flamen P, et al. Lhermitte-Duclos disease: 11C-methionine positron emission tomography data in 4 patients. Surg Neurol. Mar 2006;65(3):293-6; discussion 296-7. [Medline].

  10. Bosserhoff AK, Grussendorf-Conen EI, Rubben A, Rudnik-Schoneborn S, Zerres K, Buettner R, et al. Multiple colon carcinomas in a patient with Cowden syndrome. Int J Mol Med. Oct 2006;18(4):643-7. [Medline].

  11. Woodhouse J, Ferguson MM. Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. Br J Radiol. Oct 2006;79(946):801-3. [Medline].

  12. O'Hare AM, Cooper PH, Parlette HL 3rd. Trichilemmomal carcinoma in a patient with Cowden's disease (multiple hamartoma syndrome). J Am Acad Dermatol. Jun 1997;36(6 Pt 1):1021-3. [Medline].

  13. Schmeler KM, Daniels MS, Brandt AC, Lu KH. Endometrial cancer in an adolescent: a possible manifestation of cowden syndrome. Obstet Gynecol. Aug 2009;114(2 Pt 2):477-9. [Medline].

  14. Cnudde F, Boulard F, Muller P, et al. [Cowden disease: treatment with acitretine]. Ann Dermatol Venereol. 1996;123(11):739-41. [Medline].

  15. Eng C. PTEN: one gene, many syndromes. Hum Mutat. Sep 2003;22(3):183-98. [Medline].

  16. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. Nov 2000;37(11):828-30. [Medline].

  17. Lindor NM, Greene MH. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst. Jul 15 1998;90(14):1039-71. [Medline].

  18. Mallory SB. Cowden syndrome (multiple hamartoma syndrome). Dermatol Clin. Jan 1995;13(1):27-31. [Medline].

  19. 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].

  20. McGarrity TJ, Wagner Baker MJ, Ruggiero FM, et al. GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations. Am J Gastroenterol. Jun 2003;98(6):1429-34. [Medline].

  21. 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].

  22. Requena L, Gutierrez J, Sanchez Yus E. Multiple sclerotic fibromas of the skin. A cutaneous marker of Cowden's disease. J Cutan Pathol. Aug 1992;19(4):346-51. [Medline].

  23. Salem OS, Steck WD. Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature. J Am Acad Dermatol. May 1983;8(5):686-96. [Medline].

  24. Tsao H. Update on familial cancer syndromes and the skin. J Am Acad Dermatol. Jun 2000;42(6):939-69; quiz 970-2. [Medline].

  25. Waite KA, Eng C. BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels. Hum Mol Genet. Mar 15 2003;12(6):679-84. [Medline].

  26. Walton BJ, Morain WD, Baughman RD, Jordan A, Crichlow RW. Cowden's disease: a further indication for prophylactic mastectomy. Surgery. Jan 1986;99(1):82-6. [Medline].

  27. Zhou X, Hampel H, Thiele H, et al. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet. Jul 21 2001;358(9277):210-1. [Medline].

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Further Reading

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Keywords

multiple hamartoma syndrome, Cowden syndrome, Cowden disease, PTEN (phosphatase and tensin homolog), hamartoma tumor syndrome

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Contributor Information and Disclosures

Author

Charles Miller, MD, Chief, Department of Dermatology, Kaiser Permanente
Charles Miller, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Craig A Elmets, MD, Director of Dermatology, Departments of Dermatology, Pathology, and Environmental Health Sciences; Professor, The Kirklin Clinic, University of Alabama at Birmingham
Craig A Elmets, MD is a member of the following medical societies: American Academy of Dermatology, American Association of Immunologists, American College of Physicians, American Federation for Medical Research, and Society for Investigative Dermatology
Disclosure: Palomar Medical Technologies Stock None; Amgen Consulting fee Review panel membership; Astellas Consulting fee Review panel membership; Massachusetts Medical Society Salary Employment; Abbott Laboratories Grant/research funds Independent contractor

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Lester F Libow, MD, Dermatopathologist, South Texas Dermatopathology Laboratory
Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Texas Medical Association
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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