Guidelines
Guidelines Summary
The National Comprehensive Cancer Network 2018 management guidelines for Cowden disease (multiple hamartoma syndrome) are described below.
For women, guidelines are as follows:
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Breast awareness starting at age 18 years
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Clinical breast examinations every 6-12 months starting at age 25 years or 5-10 years prior to earliest breast cancer diagnosis in family (whichever comes first)
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Breast screening: (1) Annual mammography and breast MRI screening starting at age 30-35 years or 5-10 years prior to earliest breast cancer diagnosis in family (whichever comes first); (2) Age older than 75 years, management should be considered on an individual basis; (3) For women with a PTEN mutation who are treated for breast cancer, screening of remaining breast tissue with annual mammography and breast MRI should continue
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For endometrial cancer screening, encourage patient education and prompt response to symptoms (ie, abnormal bleeding); consider annual random endometrial biopsies and/or ultrasound beginning at age 30-35 years
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Discuss option of hysterectomy upon completion of childbearing
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Discuss option of risk-reducing mastectomy
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Address psychosocial, social, and quality-of-life aspects of undergoing risk-reducing mastectomy and/or hysterectomy
For men and women, guidelines are as follows:
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Annual history and physical examinations starting at age 18 years or 5 years before the youngest age of diagnosis of a component cancer in the family (whichever comes first), with particular attention to the thyroid examination
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Annual thyroid ultrasound starting at time of Cowden syndrome diagnosis, including in childhood or 5 years before the youngest age of diagnosis of a component cancer in the family (whichever comes first)
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Colonoscopy, starting at age 35 years, unless symptomatic or if close relative with colon cancer before age 40 years, then start 5-10 years before the earliest known cancer in the family; colonoscopy should be performed every 5 years, or more frequently if patient is symptomatic or polyps found
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Consider renal ultrasound starting at age 40 years, then every 1-2 years
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Dermatologic management may be indicated for some patients
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Consider psychomotor assessment in children at diagnosis and brain MRI if there are symptoms
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Education regarding the signs and symptoms of cancer
For risk to relatives, guidelines are as follows:
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Advise about possible inherited cancer risk to relatives, and give options for risk assessment and management
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Recommend genetic counseling and consideration of genetic testing for at-risk relatives
Media Gallery
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A patient with trichilemmoma papules on the face.
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Multiple benign oral fibromas.
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Multiple trichilemmomas in patient with Cowden disease.
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