Cowden syndrome is an uncommon, autosomal dominant disease characterized by multiple hamartomas and hyperplastic lesions in the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. About 30% of Cowden syndrome cases are reportedly complicated by malignant diseases. Hamartomatous polyps occur throughout the gastrointestinal tract, the most common sites being the stomach, colon, esophagus, and duodenum. Small bowel polyps can occur in Cowden syndrome; however, they are difficult to detect by conventional examination, including double-contrast X-ray study. Here, we report three cases of Cowden syndrome with small bowel polyps, which were detected by capsule endoscopy. The small bowel polyps of Cowden syndrome frequently occur at the oral end of the small bowel, especially in the duodenum and jejunum, and their color is similar to that of the surrounding mucosa; additionally, the polyps are relatively small (2–5 mm). Capsule endoscopy is useful for detecting small bowel polyps in Cowden syndrome.
Cowden syndrome is an uncommon, autosomal dominant disease characterized by multiple hamartomas and hyperplastic lesions of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract [
The incidence of gastrointestinal polyps is 65.6% in the esophagus, 75% in the stomach, 36.5% in the duodenum, and 65.6% in the colon [
We report three cases of Cowden syndrome with small bowel polyps, which were detected by capsule endoscopy (CE), and describe the characteristic findings of the small bowel polyps in this syndrome.
A 46-year-old man was referred to our hospital for hematochezia. He had no significant medical history and family history. He had multiple facial papules and small, whitish gingival papilloma. A colonoscopy revealed multiple rectosigmoid colon polyps, predominantly located in the lower rectum (Figure
Endoscopic views of Case 1. (a) Colonoscopy revealed multiple rectal polyps. (b) Esophagogastroduodenoscopy (EGD) showed whitish polypoid lesions in the esophagus. (c) EGD showed multiple gastric polyps. (d) Capsule endoscopy revealed multiple polypoid lesions similar in color to the surrounding mucosa in the jejunum, with their diameters of 2–5 mm. (e) Capsule endoscopy revealed hemangiomas in the jejunum.
A 60-year-old woman was referred to our hospital for further examination of multiple gastric polyps. She had a past history of breast fibroadenoma and thyroid goiter. She had oral papilloma, esophageal glycogenic acanthosis, and polyposis in the stomach, duodenum, and colon as observed by endoscopic examination. Histological assessment of the biopsy specimens revealed that the gastric and colonic polyps were hamartomatous, and she was diagnosed with Cowden syndrome. CE revealed many polyps of normal color that ranged from 2 to 5 mm in size in the small bowel (Figure
Capsule endoscopy revealed polyps of normal color in the jejunum.
A 27-year-old woman received gastrointestinal examination after her mother’s diagnosis with Cowden syndrome. EGD revealed esophageal multiple glycogenic acanthosis and duodenal polyps, but no significant lesions were found in the stomach, unlike her mother. A colonoscopy revealed small hamartomatous polyps in the rectum. She had bilateral tonsil papilloma, multiple thyroid cysts, and breast lipoma. She was diagnosed with Cowden syndrome. CE revealed minimal polyps of normal color, which ranged from 2 to 3 mm in size, from the duodenum to the oral end of the jejunum (Figure
Capsule endoscopy revealed minimal polyps of normal color in the duodenum.
Cowden syndrome, also known as multiple hamartoma syndrome, was first described in 1963 by Lloyd and Dennis [
Cowden syndrome is an autosomal dominant disorder that has been linked to germline mutations in the
The diagnosis of Cowden syndrome was originally made based on skin examination and family history [
Small bowel polyps can arise in Cowden syndrome. However, the characteristics of these polyps are unclear, and they are difficult to detect with conventional examination, including double-contrast X-ray study, due to the small size of the polyps and the fact that they do not protrude much [
In all the three cases, preparation for CE consisted solely of fasting (no solid food, only clear liquids) for 12 h prior to the procedure, and polyethylene glycol solution was not used; nonetheless, we obtained relatively clear images from the jejunum to the terminal ileum. It was reported that ileal involvement is not rare [
We did not detect any malignant diseases in the three cases. However, Cowden syndrome is associated with increased susceptibility to malignant diseases, and periodic follow-up examination and early diagnosis are necessary.
In summary, we described the characteristics of small bowel polyps in Cowden syndrome using CE. Small bowel polyps in Cowden syndrome are frequently observed at the oral end of the small bowel, especially in the duodenum and jejunum, and their color is similar to that of the surrounding mucosa; additionally, the polyps are relatively small (2–5 mm). CE is useful for detecting polyps in the small bowel in Cowden syndrome.
The authors declare that there is no conflict of interests regarding the publication of this paper.