COWDEN'S SYNDROME DIAGNOSED BY ORAL LESIONS: CASE REPORT AND REVIEW OF THE LITERATURE

Abstract

Cowden's syndrome (CS), also known as multiple hamartoma syndrome, is a rare genodermatosis of autosomal dominant inheritance and variable phenotype. Its origin is a PTEN (phosphatase and tensin homologue) gene mutation, resulting in the development of multiple hamartomatous lesions and an increased risk of malignancy. Clinically, it is characterized by multiple mucocutaneous lesions, including oral and labial papillomatous papules. Oral manifestations in CS are frequent and usually precede the establishment of malignant tumours. Their correct diagnosis may improve early recognition of this entity, leading to an appropriate genetic counselling and close surveillance for the early detection of malignant processes associated with SC. We report a case of a 58-year-old male patient who was referred to the Oral Pathology Department of Andres Bello University, Vina del Mar, Chile, with a presumptive diagnosis of “multiple papules” in the oral cavity. Extraoral examination revealed macrocephaly, facial trichilemomas and acral keratosis. Upon intraoral examination, multiple papillomatous lesions were observed. A biopsy of the oral lesions was taken, which revealed fibro-epithelial hyperplasia. Endoscopy of the upper digestive tract showed acanthosis of the oesophagus and multiple polyps on the antrum of the stomach and duodenum. Thyroid ultrasound showed uninodular goitre. The patient was diagnosed with Cowden's syndrome and has been followed up closely by a multidisciplinary team in order to diagnose any development of malignant tumours.