Les lésions endoscopiques du syndrome de Cowden

Abstract

Cowden syndrome is a genodermatosis characterized by multiple hamartomas forming in various tissues. It is associated to increased risk of developing breast, thyroid, endometrial, renal and colorectal cancers. Digestive system involvement is characterized by diffuse hamartomas affecting the entire digestive tract. Gastrointestinal manifestation is inconsistent. Polyps types in the upper gastrointestinal tract include hamartomas, ganglioneuromas, lipomas and adenomas. Common hammartomatous polyposis, diffuse macroscopic esophageal acanthosis and microscopic ganglioneuromatosis are key signs in the diagnosis of Cowden syndrome. It is essential that endoscopists know these lesions in order to diagnose Cowden syndrome early. We here report the case of a 44-year old patient with a history of thyroidectomy, who experienced abdominal pain over the last 6 years. Clinical examination showed good general condition with cerebellar syndrome. Abnominal examination objectified epigastric tenderness. Cutaneous examination was normal. Brain MRI showed left cerebellar lesion compatible with dysplastic gangliocytoma. Esogastroduodenal endoscopy objectified marked esophageal acanthosis with diffuse hamartomatous polyposis in the stomach, small intestine and colon. The diagnosis of Cowden syndrome was made.