Abstract
Cowden’s syndrome (CS), also known as multiple hamartoma syndrome, is a rare autosomal dominant genodermatosis first described in 1963. It has a high penetrance in both sexes and variable phenotypes. Its origin is a PTEN (phosphatase and tensin homologue) gene mutation and affects multiple organs of endodermal, ectodermal, and mesodermal origin, resulting in the development of hamartomatous mucocutaneus lesions and an increased risk for malignancies in breast, thyroid, endometrium, kidney, colon, rectum, among other organs. The diagnosis of CS is based mainly on clinical findings and oral cavity manifestations are frequent, occurring in 80-90% of patients. This include oral and labial papillomatous papules that usually precede the development of malignant tumours. Here, we report a case of a 58-years-old male with a presumptive diagnosis of multiple “pseudofibromas” in the oral cavity that was diagnosed with CS by a dental surgeon through the identification of extra and intraoral lesions, demonstrating the importance of awareness of this entity in the dental community to improve its early diagnosis, which is vital for the early detection and treatment of malignancies. Key words:Cowden’s Syndrome, Multiple Hamartoma Syndrome, PTEN Hamartoma Tumor Syndrome, Papillomatous papules.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.