Peutz Jeghers syndrome

Common Name(s)

Peutz Jeghers syndrome, Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome(PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. T hese polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth. Affected individuals have an increased risk for intestinal and other cancers. Most cases of PJS can be attributed to mutations in the STK11 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Peutz Jeghers syndrome" for support, advocacy or research.

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Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group

We are an e-mail forum providing support and information for individuals, families and friends affected by PJS (Peutz-Jeghers syndrome) & JPS (Juvenile Polyposis syndrome). Medical professionals and researchers may join too.

Last Updated: 29 Jun 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Peutz Jeghers syndrome" for support, advocacy or research.

Logo
Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group

We are an e-mail forum providing support and information for individuals, families and friends affected by PJS (Peutz-Jeghers syndrome) & JPS (Juvenile Polyposis syndrome). Medical professionals and researchers may join too.

http://peutz-jeghersnews.blogspot.com/

Last Updated: 29 Jun 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Peutz Jeghers syndrome" returned 153 free, full-text research articles on human participants. First 3 results:

A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report.
 

Author(s): Jing-Hui Chen, Jing-Jing Zheng, Qin Guo, Chao Liu, Bin Luo, Shuang-Bo Tang, Jian-Ding Cheng, Er-Wen Huang

Journal:

 

Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. STK11 has been identified as a causative gene for this disease.

Last Updated: 24 Feb 2017

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Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
 

Author(s): Hu Tan, Libin Mei, Yanru Huang, Pu Yang, Haoxian Li, Ying Peng, Chen Chen, Xianda Wei, Qian Pan, Desheng Liang, Lingqian Wu

Journal:

 

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine-threonine kinase 11 gene (SKT11) are the major cause of PJS.

Last Updated: 8 Nov 2016

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Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome.
 

Author(s): Chunyan Chen, Xiaomei Zhang, Deqiang Wang, Fangyu Wang, Jian Pan, Zhenkai Wang, Chang Liu, Lin Wu, Heng Lu, Nan Li, Juan Wei, Hui Shi, Haijun Wan, Ming Zhu, Senqing Chen, Yun Zhou, Xin Zhou, Liu Yang, Jiong Liu

Journal:

 

BACKGROUND Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease. It severely decreases patient quality of life and leads elevated cancer risk. Germline mutation of LKB1 is the leading cause of familial PJS. MATERIAL AND METHODS To characterize the germline mutation ...

Last Updated: 10 Oct 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Peutz Jeghers syndrome" returned 14 free, full-text review articles on human participants. First 3 results:

Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature.
 

Author(s): Shou-Xing Duan, Guang-Huan Wang, Jun Zhong, Wen-Hui Ou, Ma-Xian Fu, Fu-Sheng Wang, Shu-Hua Ma, Jian-Hong Li

Journal: Medicine (Baltimore). 2017 Apr;96(17):e6538.

 

Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and anal mucocutaneous pigmentations. Peutz-Jeghers polyps occur most numerously in the small intestine but frequently ...

Last Updated: 26 Apr 2017

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Clinics in diagnostic imaging. 159. Jejunal intussusception due to Peutz-Jeghers syndrome.
 

Author(s): Vijay Krishnan, Ashish Chawla, Eric Wee, Wilfred C G Peh

Journal: Singapore Med J. 2015 Feb;56(2):81-5; quiz 86.

 

A 21-year-old woman presented with acute onset of upper abdominal pain. A diagnosis of Peutz-Jeghers syndrome (PJS) was made based on the clinical picture of perioral pigmentation with imaging findings of transient jejunojejunal intussusceptions and small bowel polyps, and confirmed ...

Last Updated: 26 Feb 2015

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Update on imaging of Peutz-Jeghers syndrome.
 

Author(s): Catherine Tomas, Philippe Soyer, Anthony Dohan, Xavier Dray, Mourad Boudiaf, Christine Hoeffel

Journal: World J. Gastroenterol.. 2014 Aug;20(31):10864-75.

 

Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant disease linked to a mutation of the STK 11 gene and is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract in association with a hyperpigmentation on the lips and oral mucosa. Patients ...

Last Updated: 25 Aug 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Cancer of the Pancreas Screening-5 CAPS5)Study
 

Status: Recruiting

Condition Summary: Pancreas Cancer; Peutz-Jeghers Syndrome (PJS); Gene Mutation; Germline Mutation Carrier; Lynch Syndrome

 

Last Updated: 13 Mar 2017

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Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex
 

Status: Recruiting

Condition Summary: Cushing's Syndrome; Hereditary Neoplastic Syndrome; Lentigo; Neoplasm; Testicular Neoplasm

 

Last Updated: 12 Sep 2017

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Hereditary Colorectal and Associated Tumor Registry Study
 

Status: Recruiting

Condition Summary: Lynch Syndrome; FAP; Hereditary Diffuse Gastric Cancer; Juvenile Polyposis Syndrome; Peutz-Jeghers Syndrome

 

Last Updated: 21 Jul 2017

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