Cowden syndrome: gastrointestinal manifestations of an infrequent polyposis.

Abstract

A 58-year-old man, with a history of total thyroidectomy for papillary carcinoma in 2012, presented with rectal bleeding for the last 4 years, without other digestive symptoms or weigh lost. His physical examination revealed macrocephaly (63-cm circumference), skin with multiple verrucous papules of 1–3mm on the face and dorsum of his hands (which histologically were trichilemmomas), papules in the oral mucosa (hamartomatous papillomas), and a furrowed tongue. The rest of his physical examination and laboratory test results were normal. Colonoscopy showed more than 50 sessile hamartomatous polyps of 2–5mm in the rectum and sigmoid colon. Upper gastrointestinal endoscopy showed flat whitish lesions of 3–7mm in the distal esophagus (acanthosis glycogen). In the stomach, multiple sessile polyps of 3–5mm (▶Fig. 1) were resected and histology revealed these to be hamartomas (▶Fig. 2). In the second portion of the duodenum, a few sessile polyps of 4–5mm were resected (histology revealed normal mucosa). Small-bowel capsule endoscopy revealed multiple polyps of 1–3mm in the duodenum, proximal jejunum (▶Fig. 3), and distal ileum (▶Video1). Cowden syndrome is a rare entity related to the PTEN gene. It is characterized by the presence of hamartomatous lesions in any location. The diagnostic criteria (International Cowden Consortium criteria) include major and minor criteria (▶Table 1). Major criteria include: multiple gastrointestinal hamartomas or ganglioneuromas, macrocephaly, macular pigmentation of glans penis, mucocu-