Résumé
Le syndrome de Cowden est une maladie génétique rare, caractérisée par l’association de signes cutanéo-muqueux: trichilemmomes faciaux, acrokératoses et papillomatoses, et de manifestations viscérales. Elle prédispose à l’apparition de cancers viscéraux multiples (thyroïde, Scins et endomètre). L’atteinte digestive s’observe dans 70 à 85% des cas documentés. Ce syndrome est lié à une mutation du gène PTEN (gène suppresseur de tumeurs).
Nous rapportons un nouveau cas de maladie de Cowden avec atteinte digestive diffuse, explorée par panendoscopie et entéroscopie par capsule vidéo-endoscopique.
Summary
Cowden syndrome (CS) or multiple hamartoma syndrome is a cancerprone genodermatosis inherited in an autosomal dominant pattern. CS is characterized by pathognomonic mucocutaneous lesions, such as facial trichilemmomas, acrokératoses and mucocutaneous papillomatosis, associated with high frequencies of carcinomas of the thyroid, breast and endometrium. CS manifestations in the digestive tract included multiple hamartomatous polyps and diffuse glycogenic esophageal acanthosis. CS is caused by germline mutation in the PTEN tumor suppressor gene. We report a case of CS investigated using wireless capsule endoscopy, and emphasize on small bowel lesions.
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Bencheqroun, R., Meary, N., Laroche, L. et al. Le syndrome de Cowden: premier cas exploré par capsule vidéoendoscopique. Acta Endosc 35, 227–232 (2005). https://doi.org/10.1007/BF03009107
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DOI: https://doi.org/10.1007/BF03009107