Oral Manifestations of Cowden Syndrome in a Young Patient: A Case Report With Clinical, Histological, and Genetic Findings.

Authors

Gian Marco Podda, Lucia Borghetti, Federica Rocchetti, Niccolò Di Giosaffatte, Irene Bottillo, Paola Grammatico, Cira Rosaria Tiziana Di Gioia, Umberto Romeo

Published in

Case reports in dentistry. Volume 2026. Pages 7101797. Epub Oct 18, 2026.

Abstract

This study is aimed at describing the oral manifestations and diagnostic pathway of Cowden syndrome in a young patient, highlighting the role of dental professionals in early detection of PTEN-related disorders.
A 25-year-old woman presented with long-standing, progressive multifocal oral papillomatous lesions since childhood. Clinical examination revealed macrocephaly and extensive papillomatosis involving the lips, tongue, palate, and buccal mucosa. Histopathological analysis demonstrated verrucous epithelial proliferation with parakeratosis, acanthosis, elongated rete ridges, and low-grade dysplasia. Based on the clinical and histological findings, genetic testing was performed and identified a pathogenic PTEN variant (c.388C>T; p.Arg130Ter), confirming the diagnosis of Cowden syndrome. The patient was subsequently enrolled in a multidisciplinary surveillance program.
Persistent multifocal oral papillomatosis associated with systemic findings should raise suspicion for Cowden syndrome. Early recognition by dental professionals is essential for prompt diagnosis and timely initiation of risk-adapted surveillance strategies.

PMID:
42894848
Bibliographic data and abstract were imported from PubMed on 19 Oct 2026.

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