Cowden syndrome is characterized by diffuse hamartomas involving the whole digestive
tract. The gastrointestinal expression of the disease is inconstant, but hamartomatous
polyposes are frequent. In a multicenter study we studied the endoscopic appearance
of Cowden syndrome – as defined by fulfillment of international consortium criteria
– in 10 patients. In 6 of the 10 patients the connection with Cowden syndrome was
made retrospectively on the basis of the gastrointestinal endoscopic findings. All
patients had upper and lower gastrointestinal tract involvement. Mean follow-up duration
was 9.5 years (range: 2 – 26 years). Mean age was 37 years (range: 18 – 56 years).
Polyps of the upper gastrointestinal tract were hamartomas, ganglioneuromas, lipomas,
and adenomas. Diffuse glycogenic acanthosis was reported in nine patients. Besides
the classical hamartomatous polyposis, diffuse macroscopic esophageal acanthosis and
microscopic ganglioneuromatosis are other key findings associated with a diagnosis
of Cowden syndrome. Physicians should be aware of these characteristics in order to
diagnose Cowden syndrome early.
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1 Note: R. Coriat and M. Mozer contributed equally to this work.
R. CoriatMD, MSc
Gastroenterology and Endoscopy Unit
Université Paris Descartes, AP-HP
Hôpital Cochin
27, rue du faubourg Saint Jacques
75014 Paris
France
Fax: +33-1-797348 81
Email: romain.coriat@cch.aphp.fr