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.

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: 30 Oct 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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: 30 Oct 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

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

Go To URL
Peutz-Jeghers syndrome and family survey: a case report.
 

Author(s): Yongjian Li, Qinghai Zeng, Zhiling Liao, Guiying Zhang, Rong Xiao, Haiquan Wen

Journal:

 

Peutz-Jeghers syndrome (PJS) is a rare inherited autosomal dominant disease characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. We report on an 18-year-old Chinese male who complained with pigmentation on face and extremities for over 10 ...

Last Updated: 2 May 2013

Go To URL
[Bilateral breast cancer and Peutz-Jeghers syndrome].
 

Author(s): Miguel Ángel Lorenzo Liñán, Miguel Lorenzo Campos, Jacob Motos Micó, Carolina Martínez Pérez, Verónica Gumbau Puchol

Journal: Cir Esp. 2013 Mar;91(3):195-7.

 

Last Updated: 11 Mar 2013

Go To URL

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

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

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

Author(s): Magdalena Wojciechowska, Tadeusz Dryjański

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

Go To URL
Peutz-Jeghers syndrome: case report and literature review.
 

Author(s): E F Georgescu, Ligia Stănescu, Cristiana Simionescu, Iuliana Georgescu, Reanina Ionescu, G Florescu

Journal: Rom J Morphol Embryol. 2008 ;49(2):241-5.

 

Periorificial lentiginosis, also knew as Peutz-Jeghers Syndrome (PJS), is an autosomally dominant inherited condition determined by a mutation localized at 19p13.3 responsible for mucocutaneous pigmentation and gastrointestinal polyps. Skin- and mucosal pigmentation may be present ...

Last Updated: 2 Jun 2008

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers Syndrome
 

Status: Recruiting

Condition Summary: Peutz-Jeghers Syndrome; Neoplastic Processes; Neoplasm Metastasis

 

Last Updated: 17 Dec 2013

Go to URL
The Cancer of the Pancreas Screening-5 CAPS5)Study
 

Status: Not yet recruiting

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

 

Last Updated: 8 Jan 2014

Go to URL
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: 3 Apr 2014

Go to URL