Hironori Yamamoto, Hirotsugu Sakamoto, Hideki Kumagai, Takashi Abe, Shingo Ishiguro, Keiichi Uchida, Yuko Kawasaki, Yoshihisa Saida, Yasushi Sano, Yoji Takeuchi, Masahiro Tajika, Takeshi Nakajima, Kouji Banno, Yoko Funasaka, Shinichiro Hori, Tatsuro Yamaguchi, Teruhiko Yoshida, Hideki Ishikawa, Takeo Iwama, Yasushi Okazaki, Yutaka Saito, Nariaki Matsuura, Michihiro Mutoh, Naohiro Tomita, Takashi Akiyama, Toshiki Yamamoto, Hideyuki Ishida, Yoshiko Nakayama
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare disease characterized by the presence of hamartomatous polyposis throughout the gastrointestinal tract, except for the esophagus, along with characteristic mucocutaneous pigmentation. It is caused by germline pathogenic variants of the STK11 gene, which exhibit an autosomal dominant mode of inheritance. Some patients with PJS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood and sometimes have serious complications that significantly reduce their quality of life...
April 13, 2023: Digestion