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Peutz Jeghers Syndrome

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Synonyms of Peutz Jeghers Syndrome

Disorder Subdivisions

General Discussion

Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These 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.

Symptoms

PJS is characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine and may cause chronic rectal bleeding, anemia and bowel collapse or obstruction.

Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth and on the fingers. Hyperpigmentation may fade in adolescent or adulthood.

Affected females have an increased risk for a benign ovarian tumor called SCTAT (sex cord tumors with annular tumors) for which symptoms may include irregular or heavy periods or early puberty. Affected males can develop a tumor in the testes that secretes estrogen and can lead to breast development (gynecomastia). Individuals with PJS have an increased risk for intestinal and other cancers.

Causes

Peutz-Jeghers syndrome is an autosomal dominant genetic condition. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. Approximately 50% of individuals with PJS have an affected parent. Approximately 70% of affected individuals with a family history of PJS have a mutation in the STK11/LKB1 gene, whereas 20-70% of affected individuals without family history have a mutation in this gene. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. If a mutation has not been found and there is no family history, the risk to offspring is unknown.

Affected Populations

Peutz Jeghers syndrome is a rare disorder that affects males and females in equal numbers and can occur in any racial or ethnic group. The birth prevalence for PJS is estimated to be between 1/25,000 and 1/280,000.

Related Disorders

Symptoms of the following disorders can be similar to those of Peutz-Jeghers syndrome. Comparisons may be useful for a differential diagnosis:

Juvenile polyposis syndrome is an autosomal dominant genetic disorder characterized by a specific type of polyp referred to as a juvenile polyp located in the gastrointestinal tract. Most polyps are benign but affected individuals have an increased risk for colon and other cancers.

Carney complex is an autosomal dominant genetic disorder characterized by abnormalities in skin pigment, non-cancerous tumors of the skin, heart and breast called myxomas, overactivity of endocrine glands and endocrine tumors and tumors in the tissue covering the nerves (schwannomas).

Standard Therapies

Diagnosis
PJS is diagnosed based on the presence of polyps in the GI tract in combination with at least two of the following: polyps in the small intestine, melanin spots and/or a family history of PJS. Molecular genetic testing for the STK11/LKB1 gene is available to confirm the diagnosis. Individuals with PJS may consider genetic testing for their children in order to determine if monitoring for polyps is indicated.

Treatment
Regular examinations help to prevent intestinal obstruction and cancer. Visualization of the interior walls of the intestines (endoscopy) is recommended and large (>1 cm) polyps should be removed during the procedure. The age to begin screening and the frequency of examinations depend on family history and symptoms. Periodic x-rays or endoscopy should be done beginning in adolescence and throughout adulthood. At-risk women should begin clinical breast examination and mammography beginning in the twenties. At-risk men should routinely conduct a testicular examination.

Genetic counseling is recommended for individuals with PJS and their family members.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Peutz Jeghers Syndrome Resources

Organizations:

References

TEXTBOOKS
Burke, C. Peutz-Jeghers Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:351-2.

JOURNAL ARTICLES
Amos CI, Keitheri-Cheteri MB, Sabripour M, et al. Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Med Genet 2004;41:327-33.

Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterol Clin North Am. 2002;31:1107-31.

Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gstroenterology. 2000;119:1447-53.

Lim W, Hearle N, Shah B, et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer. 2003;89:308-13.

McGarrity TJ, Kulin HE, and Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol. 2000;95:596-604.

FROM THE INTERNET
Amos CI, Frazier ML and Mcgarrity TJ. Updated 5/19/04. Peutz-Jeghers Syndrome. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2006. Available at http://www.genetests.org. Accessed 11/06.

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry #175200; Last Update: 8/4/05.

Report last updated: 2007/01/03 00:00:00 GMT+0