Diffuse intestinal ganglioneuromatosis an uncommon manifestation of Cowden syndrome.

[cowden syndrome]

Diffuse intestinal ganglioneuromatosis is a hamartomatous polyposis characterized by a disseminated , intramural or transmural proliferation of neural elements involving the enteric plexuses . It has been associated with MEN II , neurofibromatosis type 1 and hamartomatous polyposis associated with phosphatase and tensin homolog mutation . We report the case of a female patient with a history of a breast and endometrial tumor who presented in a colonoscopy performed for rectal bleeding diffuse ganglioneuromatosis , which oriented the search for other characteristic findings of Cowden syndrome given the personal history of the patient . The presence of an esophagogastric polyposis was also noted . Cowden syndrome is characterized by skin lesions , but it is rarely diagnosed by these lesions , because they are usually overlooked . Intestinal polyposis is not a major diagnostic criterion but it is very useful for early diagnosis . The combination of colonic polyposis and glucogenic acanthosis should orient the diagnosis to Cowden syndrome .