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

Abstract

Aims: 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.

Case presentation: 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.

Conclusion: 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.