Breast ultrasound manifestations in Cowden syndrome: a case report
Cowden综合征乳腺超声表现1例

摘要

Cowden综合征（Cowden Syndrome, CS）是一种罕见的常染色体显性遗传性疾病，隶属于PTEN错构瘤综合征（PHTS）谱系，以多系统错构瘤、良恶性肿瘤易感性及皮肤黏膜病变为临床特征。乳腺、甲状腺、消化道和神经系统为常见累及部位，具有较高的恶性转化风险。由于其临床表现复杂、异质性强，诊断常被延迟或遗漏，需高度临床警惕并借助多学科协作。本文通过一例女性患者乳腺多发低回声结节及消化道息肉等多系统表现，结合影像学和病理资料，初步诊断Cowden综合征，旨在提高临床对该综合征的识别能力与干预意识。

Abstract

Cowden Syndrome (CS) is a rare autosomal dominant disorder. It belongs to the PTEN hamartoma tumor syndrome (PHTS) group. It is characterized by hamartomas and a tendency to develop benign and malignant tumors in multiple systems, as well as skin and mucous membrane lesions. The breast, thyroid, gastrointestinal tract, and nervous system are the most commonly affected. And the syndrome carries a high risk of malignant transformation. Given its complex and highly heterogeneous clinical presentation, diagnosis is often delayed or missed. So, clinicians need to be vigilant and take a multidisciplinary approach. This paper reports a female case of CS. The patient had multiple hypoechoic breast nodules and gastrointestinal polyps. Based on imaging and pathology, the authors made a preliminary diagnosis of CS. The aim is to enhance clinicians' ability to identify and manage this syndrome.