Unusual Case of Cowden Syndrome.

Cowden syndrome is a genetic disorder (autosomal dominant) characterized by multiple noncancerous, tumour-like growths called hamartomas. Cowden syndrome is also known as a phosphatase and tensin homologue (PTEN) hamartoma syndrome. 

The syndrome is associated with an increased risk of breast, thyroid, endometrial, and other cancers. Hamartomas are commonly found on the skin and mucous membranes, but they can also occur in the intestine and other parts of the body. Dr Sebastien Moliere and colleagues have reported an unusual case of Cowden syndrome, which was published in the New England Journal of Medicine.

ABOUT THE CASE: 

A 32-year-old woman presented to an outpatient breast clinic with a several-month history of multiple tender breast lumps. The patient had no notable personal or family medical history. The physical examination revealed clustered papular growths on the lips, which were present since childhood reported the patient. 

Breast examination revealed multiple smooth, firm, and mobile lumps in both breasts as well as a 2-cm, painless, indurated mass in the upper medial quadrant of the right breast. Mammography revealed dense breasts with multiple cysts. MRI confirmed a mass in the right breast and multiple smaller lesions consistent with papillomas. Biopsy results were consistent with estrogen receptor-positive invasive ductal carcinoma that was negative for human epidermal growth factor receptor 2; multiple intraductal papillomas were also present. 

Since the Cowden syndrome was suspected, genetic testing was performed and showed an inactivating mutation in the tumour-suppressor gene encoding phosphatase and tensin homologue (PTEN). The patient underwent a modified radical mastectomy of the right breast and prophylactic mastectomy of the left breast.