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• W2024960089 abstract "Cowden syndrome (CS) is a rare and complex disease inherited through an autosomal dominant trait associated with germline mutations of the PTEN gene. This article reports 2 female patients with classic features of the syndrome and reviews the current guidelines regarding diagnosis and surveillance. Although it exhibits variable clinical expressivity, the diagnosis is based on characteristic mucocutaneous alterations such as multiple facial trichilemmomas, oral mucosal papillomatosis, and acral and palmoplantar keratoses. These manifestations often precede systemic involvement. Extracutaneous lesions include fibrocystic disease of the breast, thyroid goiters or adenomas, multiple polyposis of the gastrointestinal tract, and ovarian cysts. Gastrointestinal polyps are usually asymptomatic, and the risk of gastrointestinal cancer is not greatly increased. Otherwise, an important feature of Cowden’s disease is the greater risk of breast and thyroid cancer. Because of the potentially serious associations with internal malignancy, early and accurate diagnosis of CS is essential. For this reason, all patients must be screened for occult malignancies and undergo close surveillance throughout lifetime." @default.
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• W2024960089 date "2006-01-01" @default.
• W2024960089 modified "2023-10-09" @default.
• W2024960089 title "Cowden Syndrome: Report of Two Cases and Review of Clinical Presentation and Management of a Rare Colorectal Polyposis" @default.
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• W2024960089 doi "https://doi.org/10.1016/j.cursur.2005.04.015" @default.
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