Cowden syndrome: Familial presentation and genetic insights
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Date
2024-12
Journal Title
Journal ISSN
Volume Title
Publisher
Wolters Kluwer – Medknow
Abstract
Cowden 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.
Description
Keywords
Cowden syndrome, hamartomas, PTEN gene, trichilemmomas
Citation
Shashidhara 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): 139-142