Peutz-Jeghers syndrome
Peutz Jeghers syndrome

Contact us
 
Return to database


Description from OMIM

Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.



Prevalence of clinical parameters (%)







Add new symptom/sign to this disease

Select symptom from list or write it in the box
Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address


List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hamartomatous polyps digestive 100 % 20126809 2012-01-11
Perioral melanocytic macules integumentary 100 % 20126809 2012-01-11
Abdominal pain digestive 100 % 20126809 2012-01-11
Cancer multi 85 % 16707622 2012-01-11
Gastrointestinal bleeding digestive 42 % 20126809 2012-01-11



List of references:


Peutz-Jeghers syndrome: data from the Singapore Polyposis Registry and a shifting paradigm in management.
Veronique Km Tan, Poh Koon Koh, Carol Tt Loi, Kong Weng Eu, Choong Leong Tang,

Peutz-Jeghers Syndrome (PJS) is an uncommon autosomal dominant hamartomatous polyposis syndrome. Morbidity arises from polyp-related complications and increased risks of malignancy. We report on PJS patients registered in the Singapore Polyposis Registry, identified principal causes of morbidity and appraised current management strategies. A followup protocol based on recent literature has been proposed.

Annals of the Academy of Medicine, Singapore - Jan 2010



Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.
Nicholas Hearle, Valérie Schumacher, Fred H Menko, Sylviane Olschwang, Lisa A Boardman, Johan J P Gille, Josbert J Keller, Anne Marie Westerman, Rodney J Scott, Wendy Lim, Jill D Trimbath, Francis M Giardiello, Stephen B Gruber, G Johan A Offerhaus, Felix W M de Rooij, J H Paul Wilson, Anika Hansmann, Gabriela Möslein, Brigitte Royer-Pokora, Tilman Vogel, Robin K S Phillips, Allan D Spigelman, Richard S Houlston,

Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited.

Clinical cancer research : an official journal of the American Association for Cancer Research - May 2006