Peutz Jeghers syndrome
Other Names for this Disease
- Lentiginosis, perioral
- Periorificial lentiginosis syndrome
- Peutz-Jeghers polyposis
- Polyposis, hamartomatous intestinal
What are the signs and symptoms of Peutz-Jeghers syndrome (PJS)?
What causes Peutz-Jeghers syndrome (PJS)?
Is Peutz-Jeghers syndrome (PJS) inherited?
How is Peutz-Jeghers syndrome (PJS) diagnosed?
Peutz-Jeghers syndrome is characterized by the development of growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines), and a greatly increased risk of developing certain types of cancer.
Children with Peutz-Jeghers syndrome often develop small, dark blue to dark brown spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause medical problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.
People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.
Some people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.
GeneTests lists labs conducting clinical testing for PJS. Click here to access this list. Please note: Because many of the labs listed through GeneTests do not accept direct patient contact, we strongly recomend that you work with a genetics professional or other health care provider.
- 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.
- Stone C. Peutz-Jeghers syndrome. MedlinePlus. 2007; http://www.nlm.nih.gov/medlineplus/ency/article/000244.htm. Accessed 9/3/3009.
- Amos CI, Frazier ML, McGarrity TJ, . Peutz-Jeghers Syndrome. GeneReviews. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pjs. Accessed 9/3/2009.