2024 Volume 70 Issue 3 Pages 118-127
Cowden syndrome is an autosomal-dominant inherited disorder caused by a germline mutation in the PTEN gene. This condition is characterized by multiple hamartoma-like lesions in the skin, mucosa, breasts, thyroid, endometrium, and gastrointestinal tract and is associated with a high risk of concomitant malignancies such as breast, thyroid, endometrial, and c olorectal cancers. Oral mucosal lesions in Cowden syndrome typically present as papillary masses that involve the gingiva, lips, and the tongue, producing a cobblestone appearance. We report a case of Cowden syndrome in a 53-year-old woman who presented with multiple masses in the oral cavity. Following evaluation, we suspected Cowden syndrome based on findings of acrokeratosis of the extremities, multiple papillary masses in the oral cavity, and a past medical history of breast and thyroid carcinomas. We performed a detailed examination to confirm our diagnosis. She met the diagnostic criteria of the National Comprehensive Cancer Network and was diagnosed with Cowden syndrome after a PTEN pathogenic variant was detected by cancer gene multi-panel testing.
