Cowden Disease (Multiple Hamartoma Syndrome) Follow-up

  • Author: Kendall Adkisson, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Apr 26, 2010
 

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 Cowden disease (multiple hamartoma syndrome) 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).

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Complications

Cowden disease (multiple hamartoma syndrome) is associated with increased risk of breast and thyroid malignancies. Other cancers have been reported in Cowden disease (multiple hamartoma syndrome), although the magnitude of the risk for those malignancies is not known. The following cancers have been reported:

  • Breast cancer in 25-50% of female patients and in 2 cases in male patients
  • Thyroid cancer in 3-10% of patients (men more than women), follicular cancer more common than papillary
  • Colon cancer (2 cases)
  • Uterus (endometrial) cancer, 5-10%
  • Transitional cell carcinoma of the bladder (1 case)
  • Cervical carcinoma
  • Renal cell carcinoma (2 reports)
  • Insular thyroid cancer (1 report)[25]
  • Osteosarcoma
  • Lung cancer
  • Non-Hodgkin lymphoma
  • Acute myelogenous leukemia
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Prognosis

At least 40% of Cowden disease (multiple hamartoma syndrome) 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.[15] Many of the cancers are curable if detected early. Close follow-up care of these patients is necessary.

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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.

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Contributor Information and Disclosures
Author

Kendall Adkisson, MD  Resident Physician, Scott and White Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Katherine H Fiala, MD  Assistant Professor, Department of Dermatology, Scott and White Northside Clinic

Katherine H Fiala, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, and Christian Medical & Dental Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Craig A Elmets, MD  Professor and Chair, Department of Dermatology, Director, UAB Skin Diseases Research Center, University of Alabama at Birmingham School of Medicine

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

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.

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.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M 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.

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. Lloyd KM II, Dennis M. Cowden's disease. A possible new symptoms complex with multiple system involvement. Ann Intern Med. 1963;58:136-142.

  3. Yin Y, Shen WH. PTEN: a new guardian of the genome. Oncogene. Sep 18 2008;27(41):5443-53. [Medline].

  4. Chen H and Fang J. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis. Aug 2009;24(8):865-74. [Medline].

  5. Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet. Nov 2008;16(11):1289-300. [Medline].

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

  7. Hobert JA, Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med. Oct 2009;11(10):687-94. [Medline].

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

  9. 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].

  10. 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].

  11. 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].

  12. Nishizawa A, Satoh T, Watanabe R, et al. Cowden syndrome: a novel mutation and overlooked glycogenic acanthosis in gingiva. Br J Dermatol. May 2009;160(5):1116-8. [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. 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].

  15. Yen BC, Kahn H, Schiller AL, Klein MJ, Phelps RG, Lebwohl MG. Multiple hamartoma syndrome with osteosarcoma. Arch Pathol Lab Med. Dec 1993;117(12):1252-4. [Medline].

  16. 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].

  17. Loffeld A, McLellan NJ, Cole T, Payne SJ, Fricker D, Moss C. Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. Br J Dermatol. Jun 2006;154(6):1194-8. [Medline].

  18. 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].

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

  20. Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns. Feb 2009;18(1):13-27. [Medline].

  21. 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].

  22. Cnudde F, Boulard F, Muller P, Chevallier J, Teron-Abou B. [Cowden disease: treatment with acitretine]. Ann Dermatol Venereol. 1996;123(11):739-41. [Medline].

  23. 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].

  24. Squarize CH, Castilho RM, Gutkind JS. Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycin. Cancer Res. Sep 1 2008;68(17):7066-72. [Medline].

  25. Diggelmann HR, Van Daele DJ, O'Dorisio TM, Hoffman HT. Insular thyroid carcinoma in a patient with Cowden syndrome. Laryngoscope. Mar 2010;120(3):454-7. [Medline].

 
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A patient with trichilemmoma papules on the face.
Multiple benign oral fibromas.
Multiple trichilemmomas in patient with Cowden disease.
 
 
 
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