Enteric Manifestations of Cowden Syndrome

Nakaji, Konosuke; Nakae, Yukinori; Suzumura, Shigeo

doi:10.2169/internalmedicine.49.3063

Cited by 3 publications

(8 citation statements)

References 2 publications

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“…Most individuals with CD will have GI polyps with varied histopathological features, which are originally estimated to occur in 60% of the affected individuals, most prevalently in the stomach, and then the colon, esophagus, and duodenum in the same order. Regular colonoscopy is recommended at least at the age of 40 after the baseline screening at some hospitals;9,11 however, earlier and more frequent colonoscopy might be necessary in some cases like the eldest daughter in this case, because she was found to have multiple polyps at the age of 28. Medical attendants of CD patients must be well informed about the manifestations of the GI tract.…”

Section: Discussionmentioning

confidence: 93%

Autosomal Dominant Inherited Cowden's Disease in a Family

Ha¹

2013

Clin Endosc

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Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.

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Section: Discussionmentioning

confidence: 93%

Autosomal Dominant Inherited Cowden's Disease in a Family

Ha¹

2013

Clin Endosc

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“…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 [ 6 ]. These polyps have been histopathologically found to be hamartomatous or hyperplastic polyps [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

“…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 [ 5 ]. The small bowel polyps can occur in Cowden syndrome; however, the characteristics of these polyps are unclear, and they are difficult to detect by conventional examination, including double-contrast X-ray study [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Characteristics of Small Bowel Polyps Detected in Cowden Syndrome by Capsule Endoscopy

Saito

Nomura

Sasaki

et al. 2015

Case Reports in Gastrointestinal Medicine

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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.

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“…Cowden syndrome (CS) is a rare condition that is inherited in an autosomal dominant manner and is associated with germline mutations in the tumor suppressor gene phosphatase and tensin homolog ( PTEN ). The incidence is estimated to be one in 250 000–1 000 000 . The clinical features of CS include macrocephaly; benign breast, thyroid and endometrial manifestations; and characteristic mucocutaneous lesions.…”

Section: Introductionmentioning

confidence: 99%

“…The incidence is estimated to be one in 250 000-1 000 000. 1,2 The clinical features of CS include macrocephaly; benign breast, thyroid and endometrial manifestations; and characteristic mucocutaneous lesions. In addition, CS patients have an increased risk of developing malignant lesions in many organs, especially cancer of the breast, thyroid and genitourinary system.…”

Section: Introductionmentioning

confidence: 99%

Cowden syndrome complicated by a gastrointestinal stromal tumor

Nakamura

Hirooka

Yamamura

et al. 2013

Digestive Endoscopy

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To our knowledge, this is the first report of Cowden syndrome complicated by a gastrointestinal stromal tumor (GIST) of the small bowel. A 42-year-old female patient was found to have an abdominal mass that was diagnosed as the cause of anemia and was surgically extracted. The surgical specimen was found to be a GIST. During the same period, the patient underwent an endoscopic examination of the entire gastrointestinal tract. She was also diagnosed as having Cowden syndrome based on gastrointestinal polyps and skin, thyroid and breast lesions. Cowden syndrome is associated with germline mutations in the tumorsuppressor gene PTEN. PTEN expression may be essential to tumor growth and is a predictive biomarker of the prognosis of both diseases. The present report of such a case is expected to further the analysis of Cowden syndrome.

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Enteric Manifestations of Cowden Syndrome

Cited by 3 publications

References 2 publications

Autosomal Dominant Inherited Cowden's Disease in a Family

Autosomal Dominant Inherited Cowden's Disease in a Family

Characteristics of Small Bowel Polyps Detected in Cowden Syndrome by Capsule Endoscopy

Cowden syndrome complicated by a gastrointestinal stromal tumor

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