| Theme |
Recent Topics of Hereditary Colorectal Disease |
| Title |
Cowden Disease |
| Author |
Terasu Honma |
Department of Gastroenterology, Niigata Prefectural Shibata Hospital |
| Author |
Futoshi Arai |
Arai Medical Clinic |
| Author |
Masaaki Kobayashi |
Department of Gastroenterology and Hepatology, Niigata University Graduate School of Medical and Dental Sciences |
| Author |
Yuichi Satoh |
Department of Gastroenterology and Hepatology, Niigata University Graduate School of Medical and Dental Sciences |
| Author |
Rintaro Narisawa |
Department of Gastroenterology and Hepatology, Niigata University Graduate School of Medical and Dental Sciences |
| Author |
Yutaka Aoyagi |
Department of Gastroenterology and Hepatology, Niigata University Graduate School of Medical and Dental Sciences |
| [ Summary ] |
Cowden disease is one of the PTEN hamartoma tumor syndrome characterized by PTEN gene mutation and multiple hamartomas. Cowden disease is inherited in an autosomal dominant manner, but many of the cases are thought to be simplex. The gastrointestinal pathognomonic findings for Cowden disease may be small whitish esophageal papules. Because the most serious consequences of Cowden disease relate to increased risk of breast, thryoid, endometrial, and renal cancers, the most important aspect of management of patients is increased cancer surveillance. |