Cowden Syndrome (CS) 是一種罕見的自體染色體顯性遺傳病，以多發性錯構瘤為特徵，CS患者皮膚、口腔黏膜、甲狀腺、乳腺及胃腸道等惡性腫瘤的發生率明顯增高。在80% CS的患者中發生PTEN基因突變，其餘患者亦涉及KLLN、SDH、PIK3CA和AKT1基因突變。本文的目的是通過文獻回顧，探討CS的臨床特徵、基因突變、診斷標準、醫療管理及治療。
Cowden Syndrome (CS) is a rare autosomal dominant inherited disease characterized by benign hamartomatous lesions. CS patients have a higher risk of mucocutaneous, thyroid, breast, gastrointestinal cancers. PTEN mutations occurred in 80% of CS patients, and the remaining patients also involved with KLLN, SDH, PIK3CA, and AKT1 mutations. The purpose of this article is to describe the clinical features, gene mutations, diagnostic criteria, medical management, and treatment of CS by literature review.
