Pedigree of the family with Peutz-Jeghers syndrome. Squares and circles indicate males and females, respectively, and arrow indicates the pro- band. Black color denotes affected individuals. A slash through the symbol indicates decreased indi- viduals. 

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... syndrome (PJS) is a rare inherited autosomal dominant disease, characterized by mucocutaneous pigmentation and multiple hamartomatous polyps in the gastrointestinal tract. Researchers had confirmed the relativity of PJS and STK11 gene. To improve the understanding, diagnosis and treatment of PJS, we now report a case of PJS and present the survey of the family of interest. An 18-year-old Chinese male presented to us with pigmentation on face and extremities for over 10 years. The patient had scattered needle-size dark blue macules on the mucosa of lower lip from age three, and similar macules on distant parts of his fingers from age seven. Since then, he occasionally suffered abdomen pain, and the pain recessed without particular medication. In last two years, the patient complained the number of dark macules increased, especially on mucosa of lower lip. Family history confirmed that some other family members had similar symptoms. On physical examination, we found out that there are scattered hyperpigmented macules Full around Gastrointestinal his lower lip, nostril Contrast and nasolabial revealed fold, no abnormal round or irregular protruding shape, or recessing; size from needle however, to jejunum rice. These and ileum pigmentations were found had gut definite cavity dilatation, boundaries, mucosal did not morphology fade under bulky, pressure, intestinal and canal did not peristalsis protrude hyperfunction from skin. Especially, and functional there disorder. were more Colonoscopy hyperpigmented revealed macules more around than ten his polyps lower lip, ( Figure 1D and these ) from macules transverse were colon darker to and rec- tum, presented size from irregular 0.5 cm to shapes 1.5 cm. We ( Figure 1A diagnosed ). him Besides, with Peutz-Jeghers hyperpigmented syndrome. macules, size from rice to bean, were also detected on palms and soles, while no abnormality was found on nails or hairs ( Figure 1B and 1C ). Full Gastrointestinal Contrast revealed no abnormal protruding or recessing; however, jejunum and ileum were found gut cavity dilatation, mucosal morphology bulky, intestinal canal peristalsis hyperfunction and functional disorder. Colonoscopy revealed more than ten polyps ( Figure 1D ) from transverse colon to rec- tum, size from 0.5 cm to 1.5 cm. We diagnosed him with Peutz-Jeghers syndrome. This survey included 15 family members from three generations, and 6 PJSs (4 males and 2 females) were found. We found PJS in each gen- eration without a sexual difference. No consan- guineous marriage was found in this family, so it goes well with PJS’s trait, a trait of an inherit- ed autosomal dominant disorder ( Figure 2 ). All patients in this family presented peri-oral mucosal pigmentation, especially needle-size brown-black macules on the lower lip, when they were born or at the age around ten. These macules were getting bigger and darker pro- gressively with time, and macules on palms and soles gradually occurred. Except for the patient we just reported, no other family mem- ber with PJS complained abdomen pain, bloody stool or other symptoms. Peutz-Jeghers syndrome is a more than rare inherited disorder with particular features of mucocutaneous pigmentation macules around mouth and cheek, multiple polyps in the gastro- intestinal tract, and recognizable family history. Conditions with either mucocutaneous pigmen- tation or gastrointestinal polyps are defined as incomplete PJS, which usually presents only typical pigmentation or enterorrhagia or symp- toms of intussusception [1, 2]. In 1998, Jenne and Hemminki [3, 4] colonized PJS-related gene at the proximity of D19S886190kb, and ...