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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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]


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



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


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).