Tetsuji Takayama, Naoki Muguruma, Masahiro Igarashi, Shozo Ohsumi, Shiro Oka, Fumihiko Kakuta, Yoshiaki Kubo, Hideki Kumagai, Mika Sasaki, Tamotsu Sugai, Kokichi Sugano, Yuko Takeda, Hisashi Doyama, Kouji Banno, Suguru Fukahori, Yoichi Furukawa, Takahiro Horimatsu, Hideki Ishikawa, Takeo Iwama, Yasushi Okazaki, Yutaka Saito, Nariaki Matsuura, Michihiro Mutoh, Naohiro Tomita, Takashi Akiyama, Toshiki Yamamoto, Hideyuki Ishida, Yoshiko Nakayama
Cowden syndrome (CS)/ PTEN hamartoma tumor syndrome (PHTS) is a rare autosomal dominantly inherited condition caused by germline pathogenesis. It is associated with multiple hamartomatous lesions occurring in various organs and tissues, including the gastrointestinal tract, skin, mucous membranes, breast, thyroid, endometrium, and brain. Macrocephaly or multiple characteristic mucocutaneous lesions commonly develop in individuals in their 20s. This syndrome is occasionally diagnosed in childhood due to the occurrence of multiple gastrointestinal polyps, autism spectrum disorders, and intellectual disability...
2023: Journal of the Anus, Rectum and Colon