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Genetic and Rare Diseases Information Center (GARD)

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Cowden syndrome


Other Names for this Disease

  • CD
  • Cowden disease
  • Cowden's disease
  • CS
  • MHAM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

What types of treatments are there for Cowden syndrome? Should treatment begin right after diagnosis or is there a waiting period?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might Cowden syndrome be treated?

The mucocutaneous manifestations of Cowden syndrome may be treated with topical agents, such as 5-fluorouracil, curettage, cryosurgery, or laser ablation.  Skin lesions may be excised if malignancy is suspected or symptoms (e.g., pain, deformity) are significant. [1]

Because people with Cowden syndrome have an increased risk of developing certain breast, thyroid, and endometrial cancers, an important aspect of management is increased cancer surveillance.  Specific surveillance for breast cancer in individuals with Cowden syndrome includes monthly self-examination beginning at age 18 years (for females and males), annual clinical breast examinations beginning at age 25 years, and annual mammography and breast MRI beginning at age 30-35 years; surveillance for thyroid cancer includes baseline thyroid ultrasound examination at age 18 years and annual thyroid ultrasound examinations; surveillance for endometrial cancer includes annual suction biopsies beginning at age 35-40 years for premenopausal women and annual transvaginal ultrasound examination for postmenopausal women.[1]

Last updated: 10/23/2012

Are treatments for Cowden syndrome started right after diagnosis or is there a waiting period?

To establish the extent of disease in an individual diagnosed with Cowden syndrome, the following evaluations are recommended initially:[1]


  • Physical examination of the skin, mucous membranes, thyroid, and breast  
  • Urinalysis with cytospin
  • Baseline thyroid ultrasound examination (done at 18 years of age or 5 years younger than the earliest age at thyroid cancer diagnosis in the family)

If symptoms are present, they should be addressed in the standard fashion.[1] 

The most serious consequences of Cowden syndrome relate to the increased risk of cancer. Because of this, the most important aspect of management is increased cancer surveillance. This includes:[1]

  • An annual comprehensive physical examination starting at age 18 years (or five years before the youngest cancer diagnosis in the family), with attention paid to skin changes and the neck region
  • An annual dermatologic exam
  • Urinalysis (with consideration of cytology and renal ultrasound if there is a family history of renal cell carcinoma)
  • Baseline colonoscopy at age 50 years (unless symptoms arise earlier)
  • Monthly breast self-examination beginning at age 18 years (for men and women)
  • Annual clinical breast examination beginning at age 25 years (or 5 to 10 years younger than earliest known breast cancer diagnosis in family)
  • Annual mammography and breast MRI beginning at age 30-35 years (or 5 to 10 years younger than earliest known breast cancer diagnosis in family)
  • Baseline thyroid ultrasound examination at age 18 years (or 5 years younger than earliest age at thyroid cancer diagnosis in family)
  • Annual blind repel (suction) biopsies beginning at age 35-40 years (or 5 years younger than the earliest endometrial cancer diagnosis in family) in premenopausal women
  • Annual transvaginal ultrasound examination with biopsy of suspicious areas in postmenopausal women
  • Annual thyroid ultrasound examination thereafter
Last updated: 10/23/2012

References
Other Names for this Disease
  • CD
  • Cowden disease
  • Cowden's disease
  • CS
  • MHAM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.