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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
More Names
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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

  1. Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. May 5, 2009; Accessed 5/18/2011.

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • lists trials that are studying or have studied Cowden syndrome. Click on the link to go to to read descriptions of these studies.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".