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 145 free, full-text research articles on human participants. First 3 results:

[Peutz-Jeghers Syndrome with Adenomatous Change in a Fifteen-month-old Boy].
 

Author(s): Kun Song Lee, Seung Ho Lee, Na-Hye Myong

Journal: Korean J Gastroenterol. 2015 Aug;66(2):106-10.

 

Peutz-Jeghers syndrome (PJS) is a very rare genetic disorder. PJS carries a high risk of developing gastrointestinal (GI) cancer or non-GI cancer with advancing years. However, major symptoms of PJS in childhood are obstruction, intussusception, and bleeding from hamartomatous intestinal ...

Last Updated: 20 Aug 2015

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A case of Peutz-Jeghers syndrome associated with high-grade intramucosal neoplasia.
 

Author(s): Ru-Ying Fan, Jian-Qiu Sheng

Journal:

 

Peutz-Jeghers syndrome (PJS) is a rare, inherited autosomal dominant disease characterized by mucocutaneous pigmentation and polyps in the gastrointestinal tract. Here, we report the rare case of a 64-year-old female patient with pigmentation on her lips and extremities for over 63 ...

Last Updated: 11 Aug 2015

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P16-positive continuous minimal deviation adenocarcinoma and gastric type adenocarcinoma in a patient with Peutz-Jeghers syndrome.
 

Author(s): Wei-Xia Peng, Shoko Kure, Kousuke Ishino, Keisuke Kurose, Koichi Yoneyama, Ryuichi Wada, Zenya Naito

Journal:

 

We report a case of Peutz-Jeghers syndrome (PJS) in a 33-year-old female patient with synchronous uterine cervical minimal deviation adenocarcinoma (MDA) and gastric type adenocarcinoma (GTA). The patient was diagnosed with PJS at the age of 10. At the time of consultation, she complained ...

Last Updated: 20 Jul 2015

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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 13 free, full-text review articles on human participants. First 3 results:

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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Multiple genital tract tumors and mucinous adenocarcinoma of colon in a woman with Peutz-Jeghers syndrome: a case report and review of literatures.
 

Author(s): Feng Zhou, Bingjian Lv, Lifeng Dong, Fang Wan, Jiale Qin, Lili Huang

Journal:

 

We report a very rare case of Peutz-Jeghers syndrome (PJS) composed of multiple genital tract tumors and mucinous adenocarcinoma. A 46-year-old woman presented to our hospital with lower abdominal pain resulting from PJS involves sex cord tumor with annular tubules (SCTAT), ovarian ...

Last Updated: 14 Aug 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pancreatic Cancer Early Detection Program
 

Status: Recruiting

Condition Summary: Pancreatic Cancer; Pancreas Cancer; Pancreatic Adenocarcinoma; Familial Pancreatic Cancer; BRCA 1/2; HNPCC; Lynch Syndrome; Hereditary Pancreatitis; FAMMM; Familial Atypical Multiple Mole Melanoma; Peutz Jeghers Syndrome

 

Last Updated: 30 Jul 2014

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The Cancer of the Pancreas Screening-5 CAPS5)Study
 

Status: Recruiting

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

 

Last Updated: 22 Feb 2016

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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: 14 Jan 2016

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