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Endoscopic findings in Cowden syndrome
1Gastroenterology and Endoscopy Unit, Teaching Hospital Cochin, Paris, France. romain.coriat@cch.aphp.fr
Endoscopy
|March 26, 2011
Summary
Cowden syndrome often involves the digestive tract with frequent hamartomatous polyps. Early diagnosis is aided by recognizing specific endoscopic findings like esophageal acanthosis and ganglioneuromatosis.
Area of Science:
- Gastroenterology
- Oncology
- Genetics
Background:
- Cowden syndrome is a genetic disorder characterized by the development of hamartomas throughout the body.
- Gastrointestinal manifestations are common but variable in Cowden syndrome, with hamartomatous polyposis being a frequent feature.
Purpose of the Study:
- To describe the endoscopic appearance of Cowden syndrome in the gastrointestinal tract.
- To identify key endoscopic findings that can aid in the early diagnosis of Cowden syndrome.
Main Methods:
- A multicenter study involving 10 patients diagnosed with Cowden syndrome.
- Retrospective analysis of gastrointestinal endoscopic findings in patients meeting international diagnostic criteria.
Main Results:
- All 10 patients exhibited involvement of both the upper and lower gastrointestinal tracts.
- Key findings included hamartomas, ganglioneuromas, lipomas, and adenomas in the upper GI tract.
- Diffuse glycogenic acanthosis was observed in 9 patients; diffuse esophageal acanthosis and microscopic ganglioneuromatosis were also noted.
Conclusions:
- Cowden syndrome presents with characteristic endoscopic findings in the digestive tract, including hamartomatous polyposis, diffuse glycogenic acanthosis, esophageal acanthosis, and ganglioneuromatosis.
- Awareness of these endoscopic features is crucial for the early and accurate diagnosis of Cowden syndrome.
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