Cowden Disease (Multiple Hamartoma Syndrome) Treatment & Management

Updated: May 14, 2018
  • Author: Katherine H Fiala, MD; Chief Editor: William D James, MD  more...
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Treatment

Medical Care

See Guidelines for National Comprehensive Cancer Network 2018 management recommendations.

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. [32]

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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 30-35 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 [33] ) due to the 1 in 3 risk of women developing breast cancer

  • Radiologist - Annual mammography at age 30-35 years or at 5-10 years younger than the youngest age of a person in the family with a diagnosis of breast cancer

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Long-Term Monitoring

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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