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Revista Médica Electrónica

versión On-line ISSN 1684-1824

Resumen

ARREDONDO BRUCE, Alfredo; HUERTA RAMIREZ, Janet; DOMINGUEZ CALDERON, Tomás  y  PEREZ ZAYAS, Jesús. Cowden syndrome. Presentation of an infrequent case. Rev.Med.Electrón. [online]. 2016, vol.38, n.3, pp.424-430. ISSN 1684-1824.

Cowden syndrome is an inherited disease, of dominant auto somatic transmission, characterized by the presence of multiple hamartomas and nodules in skin and oral mucosa, together with anomalies in breasts and thyroids, and polyps in the gastrointestinal tract; they tend to become malignant, above all in breast and thyroids. The precocious diagnosis after finding skin lesions and digestive disturbances should redirect the study, looking for malignancy in thyroids and, in cases of women patients, in breast. We presented a clinical case debuting with digestive disturbances interpreted as upper digestive bleeding. During the endoscopy, several duodenal polyps were observed that together with skin disturbances led to the diagnosis. The presence of skin facial papules and the oral mucosa papillomatosis are the bigger clinical criteria to stablish the Cowden syndrome diagnosis; they should raise the clinician alert toward the possibility of other neoplastic lesions, sometimes hidden, especially in the breast, thyroids and alimentary canal, with malignant character.

Palabras clave : Cowden syndrome; multiple hamartomas; poliposis.

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