International Journal of Medicine and Data

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.

Cowden syndrome; Breast ultrasonography; Manifestation analysis