Cowden Disease (Multiple Hamartoma Syndrome) Treatment & Management

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

Medical Care

According to the National Comprehensive Cancer Network 2008, management guidelines for Cowden disease (multiple hamartoma syndrome) include the following:

  • Annual history and physical examinations, monthly self-breast examinations, and baseline thyroid ultrasonography beginning at age 18 years (consider repeating annually)
  • Clinical breast examinations every 6 months starting at age 25 years (or 5-10 y prior to earliest breast cancer diagnosis in family if younger than 35 y)
  • Annual mammography and breast MRI screening at age 30-35 years (or 5-10 y prior to earliest breast cancer diagnosis in family if younger than 40-45 y)
  • Consideration of prophylactic mastectomy on case-by-case basis
  • Consideration of annual dermatologic examination
  • Blind endometrial biopsy at age 30-35 years (or 5 y before earliest diagnosis of endometrial cancer in family); repeat every 12 months in premenopausal women
  • Endometrial ultrasonography every 12 months in postmenopausal women
  • Consideration of participation in clinical trials to determine effectiveness of endometrial and renal cell cancer screening

Systemic treatments (ie, acitretin) may be used to control some of the cutaneous manifestations of the disease; however, recurrence of lesions is typical after treatment is discontinued.[22]

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Surgical Care

Surgical care of facial papules may include the following:

  • Chemical peels
  • Laser resurfacing
  • Surgery and/or shave excisions only if symptomatic or malignancy is suspected because surgical removal may be complicated by recurrence or keloid formation
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Consultations

Consult the following specialists as determined necessary by laboratory test results and physical examination findings:

  • Ophthalmologist - For myopia, cataracts, and angioid streaks
  • Endocrinologist - If thyroid studies are abnormal
  • Gynecologist - For at least annual endometrial biopsy at age 35 years or at 5 years younger than the youngest age of a person in the family with a diagnosis of endometrial cancer
  • Neurologist and neurosurgeon - If initial MRI shows cerebellar enlargement or other abnormalities or if patient has a new onset of focal CNS symptoms
  • GI or general surgeon - If barium swallow and/or enema shows significant lesions (A consultation may also be obtained if the diagnosis has not yet been established in a suspected case.)
  • General surgeon - For mammogram abnormalities or consideration of prophylactic bilateral mastectomy, which some physicians recommend (Walton, et al[23] ) due to the 1 in 3 risk of women developing breast cancer
  • Radiologist - Annual mammography at age 30 years or at 5 years younger than the youngest age of a person in the family with a diagnosis of breast cancer
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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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