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Article

Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl.

Clinical journal of gastroenterology - 1 Dec 2020

Hashimoto Yusuke, Yokoyama Koji, Kumagai Hideki, Okada Yuko, Yamagata Takanori

Abstract excerpt

Juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT) are both relatively rare hereditary disorders. Some patients with the SMAD4 gene mutation develop both JPS and HHT, a condition termed JPS-HHT. We herein report a case of childhood-onset JPS-HHT. At nine years old, the patient underwent colonoscopy under suspicion of Crohn's disease, which revealed multiple polyps. A genetic...

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Identifiers

PMID: 32944796
DOI: 10.1007/s12328-020-01238-w

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