Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.

Abstract

BACKGROUND Cowden syndrome is a genetic disorder that predisposes individuals to cancer and is characterized by hamartomas derived from 3 germ layers. Although the clinical signs can be pathognomonic, diagnosis is often aided by biopsies, histopathological examination of oral and cutaneous lesions, and genetic studies, including multiple ligation-dependent probe amplification (MLPA). CASE REPORT We report a case of a 35-year-old woman who manifested with multiple lesions in the buccal mucosa, dorsum of the tongue, and gums, along with papillomatous papules on her facial skin and the dorsal surfaces of her hands. These lesions were identified as hamartomas. Laboratory tests, including blood biometry, blood chemistry, and coagulation profiles, returned results within normal ranges. Her medical history revealed uterine fibroids, raising suspicion of Cowden syndrome. A genetic consultation confirmed the diagnosis, revealing a heterozygous PTEN deletion. CONCLUSIONS This case illustrates the importance of a multidisciplinary approach in diagnosing Cowden syndrome, especially the role of dental professionals in recognizing early clinical signs. Early diagnosis through genetic testing is crucial due to the patient's elevated risk of malignancies. Healthcare providers must remain vigilant to syndromes such as Cowden syndrome, particularly in patients with relevant family histories, to ensure timely intervention and comprehensive management.