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Peutz-Jeghers syndrome


Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
Related Diseases
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Overview

Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner.[1][2] Management typically includes high-risk screening for associated polyps and cancers.[3]
Last updated: 3/15/2015

References

  1. Thomas J McGarrity, MD, Christopher I Amos, PhD, Marsha L Frazier, PhD, and Chongjuan Wei, PhD. Peutz-Jeghers Syndrome. GeneReviews. July 2013; http://www.ncbi.nlm.nih.gov/books/NBK1266/.
  2. Thomas M Attard, MD, FAAP, FACG. Peutz-Jeghers Syndrome. Medscape Reference. December 2014; http://emedicine.medscape.com/article/182006-overview.
  3. Dawn Provenzale, MD, MS. Genetic/Familial High-Risk Assessment: Colorectal. National Comprehensive Cancer Network. February 2014; Accessed 3/15/2015.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Peutz-Jeghers syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.