Rare case of Cowden syndrome reported in NEJM

Dr Sébastien Molière and Dr Carole Mathelin at Hôpital de Hautepierre, Strasbourg, Frances have reported an unusual case of Cowden syndrome.The case has been published in the New England journal of Medicine.

Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Hamartomas are most commonly found on the skin and mucous membranes , but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.

Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.

According to the history,32-year-old woman presented to the outpatient breast clinic with a several-month history of multiple tender breast lumps. She had no notable personal or family medical history. The physical examination revealed clustered papular growths on the lips (Panel A), which she reported had been present since childhood. On breast examination, there were 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 showed dense breasts with multiple cysts. Magnetic resonance imaging confirmed a mass in the right breast (Panel B, black arrow) and multiple smaller lesions consistent with papillomas (red arrows). 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 tumor-suppressor gene encoding phosphatase and tensin homologue (PTEN). The Cowden syndrome, an autosomal dominant PTEN hamartoma syndrome, is associated with an increased risk of breast, thyroid, endometrial, and other cancers. Oral mucosal papillomas are commonly associated skin lesions. The patient underwent modified radical mastectomy of the right breast and prophylactic mastectomy of the left breast. In addition to genetic counseling, cancer surveillance is an important focus of treatment for patients with the Cowden syndrome.

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DOI: 10.1056/NEJMicm1910478