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Int J Clin Exp Pathol 2013;6(5):982-984
Peutz-Jeghers syndrome and family survey: a case report
Yongjian Li, Qinghai Zeng, Zhiling Liao, Guiying Zhang, Rong Xiao, Haiquan Wen
Department of Dermatology, the First Affiliated Hospital of Nanhua University, Hengyang Hunan, China; Department of Dermatology, Second
Xiangya Hospital, Central South University, Changsha, China
Received January 15, 2013; Accepted February 25, 2013; Epub April 15, 2013; Published May 1, 2013
Abstract: 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. (IJCEP1301029).
Keywords: Peutz-Jeghers syndrome, family survey
Address correspondence to: Dr. Guiying Zhang, Department of Dermatology, Second Xiangya Hospital, Central South University, No. 139,
Renmin Road, Changsha, Hunan 410011, PR China. Phone: +86 731 85295052; Fax: +86 731 85533525; E-mail: