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Case Reports
. 2013 Apr 15;6(5):982-4.
Print 2013.

Peutz-Jeghers syndrome and family survey: a case report

Yongjian Li  1 , Qinghai Zeng, Zhiling Liao, Guiying Zhang, Rong Xiao, Haiquan Wen
Affiliations
Case Reports

Peutz-Jeghers syndrome and family survey: a case report

Yongjian Li et al. Int J Clin Exp Pathol. .

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.

Keywords: Peutz-Jeghers syndrome; family survey.

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Figures

Figure 1
Figure 1
Images showing hyperpigmented macules on the patient’s lips (A) and fingers (B); Endoscopic view of pedunculated colonic polyp (C); Histology image, showing a typical Peutz-Jeghers polyp (HE staining), demonstrating glandular disorganisation, hamartomatous appearance and ramifying branching bundles of smooth muscle (D).
Figure 2
Figure 2
Pedigree of the family with Peutz-Jeghers syndrome. Squares and circles indicate males and females, respectively, and arrow indicates the proband. Black color denotes affected individuals. A slash through the symbol indicates decreased individuals.
See this image and copyright information in PMC

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