Diagnosis of Cowden’s Syndrome based on Oral Mucosal Lesions - A Case Report

Cowden syndrome (CS) is a rare autosomal dominant (AD) disorder first identified in 1963, also known as multiple hamartoma syndrome due to the presence of numerous hamartomatous lesions on mucous membranes and skin. We present a case involving a 48-year-old male patient from our oral and maxillofacial surgery department. On clinical examination, multiple fibrous papillomas were observed in the oral cavity. On further examination of macrocephaly, pectus deformity of the chest and multiple papillomas on the face and neck were revealed, raising suspicion of any underlying syndrome, due to this suspicion we recommend diagnostic tests such as biopsy, ultrasound, and endoscopy. On the basis of reports and diagnostic criteria, we confirmed the diagnosis of CS. CS is associated with an increased risk of several cancers, such as breast and thyroid carcinoma, regular monitoring is essential for early cancer detection and prompt treatment with better prognosis.