Peutz-Jeghers syndrome (PJS) is a rare inherited autosomal dominant disease characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. We report on an 18-year-old Chinese male who complained with pigmentation on face and extremities for over 10 years. Colonoscopy revealed more than ten polyps from transverse colon to rectum. The family survey included 15 family members from three generations, and 6 PJSs (4 males and 2 females) were found. This case is reported because of its rarity of Peutz-Jeghers syndrome and the survey of family history.

作者：Yongjian, Li；Qinghai, Zeng；Zhiling, Liao；Guiying, Zhang；Rong, Xiao；Haiquan, Wen

来源：International journal of clinical and experimental pathology 2013 年 6卷 5期