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Peutz Jeghers syndrome
Other Names for this Disease
- Lentiginosis, perioral
- Periorificial lentiginosis syndrome
- Peutz-Jeghers polyposis
- Polyposis, hamartomatous intestinal
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.Peutz-Jeghers syndrome(PJS) is an
Last updated: 3/4/2010
- Peutz Jeghers Syndrome. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Peutz%20Jeghers%20Syndrome. Accessed 9/3/2009.
- Peutz-Jeghers syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/ghr/disease/peutzjegherssyndrome. Accessed 9/3/2009.
- Genetics Home Reference (GHR) contains information on Peutz Jeghers syndrome. 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.
- The Online Mendelian Inheritance in Man (OMIM) is an 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.
Selected Full-Text Journal Articles
- Giardiello FM, Timbath JD. Peutz-Jeghers syndrome and management recommendations. Clinical Gastroenterology and Hepatology Journal. 2006:4(4);408-415
- Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Möslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May 15;12(10):3209-15.