Abstract

INFANTE AMOROS, Adalberto Luis; VELEZ RUIZ, Wladimir Mauricio; ARGUELLES ZAYAS, Ana del Carmen  and  DENIS DE ARMAS, Reinaldo. Cowden syndrome. Rev Cubana Endocrinol [online]. 2018, vol.29, n.2, pp. 1-5. ISSN 1561-2953.

Cowden syndrome is a hereditary disease, of autosomal dominant transmission, and characterized by the presence of multiple hamartomas and nodules in the skin and oral mucosa, and also with abnormalities in the breast, thyroid, and polyps in the gastrointestinal tract with an increased risk of malignant tumors. It is reported a case of a patient with a diagnosis of toxic nodular goiter, and who presented -due to the antecedents and studies carried out- manifestations compatible with the Cowden syndrome. Cowden syndrome is the hamartomatous tumor syndrome of phosphatase and tensin homolog which is better described so far. Patients having it present characteristic mucocutaneous lesions and a high risk of breast, thyroid, endometrial, colorectal and renal cancers, as well as several benign manifestations such as macrocephaly and gangliocytoma of the cerebellum. Early diagnosis of this syndrome and long-term follow-up are important given the high risk of developing malignant tumors.

Keywords : Cowden syndrome; hyperthyroidism; hamartomas; colon polyps.

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