Shashidhara, K. C.Yenamala, KeerthiNachu, Prajval ReddyPrajwal, L. K.Chukkapalli, Sai Surya2025-05-092025-05-092024-12Shashidhara K. C., Yenamala Keerthi, Nachu Prajval Reddy, Prajwal L. K., Chukkapalli Sai Surya. Cowden syndrome: Familial presentation and genetic insights. Indian Journal of Community & Family Medicine. 2024 Dec; 10(2): 139-1422395-21132666-3120https://imsear.searo.who.int/handle/123456789/243347Cowden syndrome (CS), primarily driven by PTEN gene mutations, leads to aberrant cell proliferation and presents with characteristic manifestations including multiple hematomas, hamartomatous polyps, and trichilemmomas. Beyond these, patients face elevated risks of breast, thyroid, and endometrial tumors. While PTEN mutations predominate, other genes such as KILLIN, SDH B/D, ?????, and AK1 contribute to a subset of cases. Here, we present the familial case of CS, underscoring its genetic complexity and clinical implications.Cowden syndromehamartomasPTEN genetrichilemmomasCowden syndrome: Familial presentation and genetic insightsJournal ArticleIndiaDepartment of General Medicine, JSS Academy of Higher Education and Research, Mysore, Karnataka, IndiaDepartment of General Medicine, JSS Academy of Higher Education and Research, Mysore, Karnataka, IndiaDepartment of General Medicine, JSS Academy of Higher Education and Research, Mysore, Karnataka, India; Department of General Medicine, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, Karnataka, IndiaDepartment of General Medicine, JSS Academy of Higher Education and Research, Mysore, Karnataka, IndiaDepartment of General Medicine, JSS Academy of Higher Education and Research, Mysore, Karnataka, India