ORAL MANIFESTATIONS AID IN THE DIAGNOSIS OF COWDEN SYNDROME: ROLE OF AN ORAL DIAGNOSTICIAN

Abstract

Cowden Syndrome, also referred to as Multiple Hamartoma Syndrome or PTEN Hamartoma Tumor syndrome (PHTS), is an autosomal dominant disorder with a broad clinical spectrum and wide degree of penetrance. This rare disorder causes an increased predisposition to the development of numerous malignancies, and benign hamartomas and neoplasms. The oral manifestations have also been well documented and are present in nearly all affected individuals by the third decade of life. Objective To describe the role of an Oral Diagnostician in the preliminary diagnosis of Cowden Syndrome. We report a case of a patient who presented with pathognomonic oral signs of Cowden Syndrome. Upon further review of her medical and family history, she was referred to her family physician and genetic counselor where the diagnosis of Cowden syndrome was confirmed through genetic testing. Findings A 31 year old female presented to the dental clinic at University of Colorado for a routine dental evaluation. The patient was noted to have multifocal papules affecting the gingiva, tongue and buccal mucosa, and multiple papular skin lesions. She reported a history of a thyroid tumor and a family history of breast and uterine cancer. Based on the review of the medical history, family history and oral mucosal findings, a diagnosis of Cowden syndrome was considered. The patient was referred to her family physician and genetic counselor where the diagnosis of Cowden syndrome was confirmed through genetic testing (PTEN mutation). Additional clinical findings included macrocephaly, trichilemommas and thyroid goiter. Conclusion The NCCN guidelines list multifocal or extensive oral papules as one of the major criteria in the diagnosis of Cowden Syndrome. The Oral Diagnostician can play a crucial role in the diagnosis. Early diagnosis of patients affected with Cowden syndrome can facilitate early screening, detection and management of benign and malignant neoplasms.