Peutz Jeghers syndrome
Other Names for this Disease
- Lentiginosis, perioral
- Periorificial lentiginosis syndrome
- Peutz-Jeghers polyposis
- Polyposis, hamartomatous intestinal
Your QuestionI have many dark colored spots on my lips, inside my cheek, and on my gum. These spots developed while I was in my thirties. Although I do not have gastrointestinal symptoms and my family history is negative, my dermatologist has suggested the possibility of Peutz-Jeghers syndrome (PJS). I am concerned about the high incidence of cancer in PJS patients and would like to know if definitive testing is available.
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Questions on this page
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.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- 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.