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: 6 May 2014

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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: 6 May 2014

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

Findings from the Peutz-Jeghers syndrome registry of uruguay.
 

Author(s): Asadur Tchekmedyian, Christopher I Amos, Sherri J Bale, Dakai Zhu, Stefan Arold, Joaquin Berrueta, Natalie Nabon, Thomas McGarrity

Journal:

 

Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients.

Last Updated: 22 Nov 2013

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[A case of Crohn's disease accompanied by Peutz-Jeghers syndrome].
 

Author(s): Yoo Jin Um, Sun Moon Kim, Jin Sil Pyo, Joo Ah Lee, Hoon Sup Koo, Kyu Chan Huh

Journal: Korean J Gastroenterol. 2013 Oct;62(4):243-7.

 

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Peutz-Jeghers syndrome has an incidence of approximately 1 in 25,000 to 300,000 births. Crohn's disease is a chronic inflammatory ...

Last Updated: 28 Oct 2013

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High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.
 

Author(s): Pawel Borun, Anna Bartkowiak, Tomasz Banasiewicz, Boguslaw Nedoszytko, Dorota Nowakowska, Mikolaj Teisseyre, Janusz Limon, Jan Lubinski, Lukasz Kubaszewski, Jaroslaw Walkowiak, Elzbieta Czkwianianc, Monika Siolek, Agnieszka Kedzia, Piotr Krokowicz, Wojciech Cichy, Andrzej Plawski

Journal:

 

Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of cancer in multiple internal organs. Depending on the studied population, its incidence ...

Last Updated: 13 Jun 2013

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

Carney syndrome in a patient previously considered to have Peutz-Jeghers syndrome.
 

Author(s): Justin D Richey, Joshua R Bradish, Shanon R Lacy, Simon Warren

Journal: J. Am. Acad. Dermatol.. 2014 Feb;70(2):e44-6.

 

Last Updated: 20 Jan 2014

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Peutz-Jeghers syndrome: diagnostic and therapeutic approach.
 

Author(s): Marcela Kopacova, Ilja Tacheci, Stanislav Rejchrt, Jan Bures

Journal: World J. Gastroenterol.. 2009 Nov;15(43):5397-408.

 

Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Prevalence of PJS is estimated from 1 in 8300 to 1 in 280,000 individuals. PJS predisposes sufferers to ...

Last Updated: 16 Nov 2009

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A 21-year-old female patient with Peutz-Jeghers syndrome.
 

Author(s): Magdalena Wojciechowska, Tadeusz DryjaƄski

Journal: Pol. Arch. Med. Wewn.. 2008 Oct;118(10):585-9.

 

The paper describes a case of a 21-year-old woman admitted to the Department of Internal Medicine with signs and symptoms of microcytic anemia. The presence of characteristic skin lesions, results of laboratory tests and positive family history led to the diagnosis of a rare colonic ...

Last Updated: 30 Dec 2008

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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: 10 Sep 2014

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Pancreatic Cancer Screening of High-Risk Residents of Arkansas
 

Status: Not yet recruiting

Condition Summary: Pancreatic Neoplasms; Peutz-Jegher's Syndrome; BRCA1 Gene Mutation; BRCA2 Gene Mutation; Ataxia Telangiectasia; Familial Atypical Mole-Malignant Melanoma Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary Pancreatitis

 

Last Updated: 3 Dec 2014

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