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

Contrast-enhanced ultrasound defines vascularization pattern of hamartomatous colonic polyps in Peutz-Jeghers syndrome.
 

Author(s): Radu Badea, Lidia Ciobanu, Emil Boţan, Cristina Pojoga, Marcel Tanţău

Journal: Gut Liver. 2014 Nov;8(6):680-2.

 

The hamartomatous polyps in Peutz-Jeghers syndrome may have malignant potential. To differentiate between hamartomatous and adenomas polyps, vascular characterization can be assessed using noninvasive procedures, such as contrast-enhanced ultrasound (CEUS). The neo-angiogenic characteristics ...

Last Updated: 4 Nov 2014

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Unexpected Peutz-Jeghers syndrome in an adult presenting with intermittent upper intestinal obstruction. A case report.
 

Author(s): Paula Szanto, Valentina Barbieru, Radu Badea, Teodora Pop, Ioana Rusu, Nadim Al Hajjar

Journal: J Gastrointestin Liver Dis. 2014 Mar;23(1):91-4.

 

Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of ...

Last Updated: 1 Apr 2014

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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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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:

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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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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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 May 2015

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Pancreatic Cancer Screening of High-Risk Individuals in 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: 14 May 2015

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