COWDEN SYNDROME DIAGNOSIS FROM ORAL MANIFESTATIONS: A CASE REPORT

Abstract

Cowden syndrome (CS) is a rare condition, inherited with autosomal dominant trait, resulting from mutation in the Phosphatase and Tensin homolog gene on chromosome 10 and characterized mainly by multiple hamartomas and increased risk of malignant development. The report describes a case in a 43-year-old white male patient, complaining of a nodule on the tongue. In the anamnesis, a previous history of malignant neoplasms in the thyroid and testicles treated 20 years ago was been reported. Physical examination showed multiple small papules on the facial skin around eyes and mouth, multiple asymptomatic hamartomas in the labial mucosa, buccal mucosa, dorsal tongue and gingivae, and small superficial keratotic plaques in the dorsal surface of the hands. Three biopsies were performed in different oral sites with histopathological diagnosis of fibrous hyperplasia. Diagnosis of CS was confirmed by medical history, clinical, and histopathological characteristics. The patient is followed up in medical and dental care.