| Theme | Lynch Syndrome and Hereditary Polyposis Syndromes | |
|---|---|---|
| Title | Cowden Syndrome | |
| Publish Date | 2019/06 | |
| Author | Satoshi Teramae | Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences |
| Author | Kumiko Tanaka | Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences |
| Author | Koichi Okamoto | Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences |
| Author | Yasushi Sato | Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences |
| Author | Naoki Muguruma | Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences |
| Author | Tetsuji Takayama | Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences |
| [ Summary ] | Cowden syndrome is an autosomal dominant inherited disorder characterized by the development of hamartomas throughout the body, affecting the skin, mucosa, gastrointestinal tract, and the mammary and thyroid glands, among other organs. Patients with Cowden syndrome present with characteristic cutaneous lesions (facial trichilemmomas and papillomatous and other such lesions), as well as multiple polyps affecting all parts of the digestive tract between the esophagus and the rectum. This syndrome is characterized by flat white protuberant lesions occurring predominantly in the esophagus, which are not observed in other types of gastrointestinal polyposis. Malignant tumors such as breast and thyroid cancer, among other such cancers may occur concomitantly. Therefore, adequate surveillance of malignant tumors is important in these cases. Diagnosis is based on evaluation of skin lesions and malignant tumors, as well as obtaining an accurate family history and other factors. The prevalence rate is estimated to be 1 in 200,000‒250,000 individuals. However, an accurate prevalence rate is unknown because diagnosis is difficult and it is inferred that the actual prevalence rate is higher. The PTEN gene has been identified as one of the causative genes, and PTEN gene mutations are identified in approximately 80 % of patients. Recently, it has been reported that patients with Cowden syndrome show an increased risk of colon cancer. | |