$Unique_ID{BRK04100} $Pretitle{} $Title{Peutz-Jeghers Syndrome} $Subject{Peutz-Jeghers Syndrome Intestinal Polyposis II Intestinal Polyposis-Cutaneous Pigmentation Syndrome Hutchinson-Weber-Peutz Syndrome Jegher's Syndrome Lentigio-Polypose-Digestive Syndrome Melanoplakia-Intestinal Polyposis Peutz-Touraine Syndrome} $Volume{} $Log{} Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 149: Peutz-Jeghers Syndrome ** IMPORTANT ** It is possible that the main title of the article (Peutz-Jeghers Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Intestinal Polyposis II Intestinal Polyposis-Cutaneous Pigmentation Syndrome Hutchinson-Weber-Peutz Syndrome Jegher's Syndrome Lentigio-Polypose-Digestive Syndrome Melanoplakia-Intestinal Polyposis Peutz-Touraine Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Peutz-Jeghers Syndrome is a hereditary condition characterized by multiple, benign growths (polyps) on the mucous lining of the intestinal wall, and dark discolorations on the skin and mucous surfaces. Low grade malignancies develop in about a fifth of the patients, but the risk of cancer is much lower in this syndrome than in the familial colonic polyposes. Symptoms Peutz-Jeghers Syndrome appears between 10 and 30 years of age, although the characteristic discolorations are present from birth. These freckles are found around the lips, inside the mouth on the mucosal lining of the cheeks, and on the fingers, palms of the hands, forearms, toes, and around the naval. They may coalesce, intensify, or fade, especially around puberty. Polyps occur in the small intestine, and occasionally in the stomach or large intestine (colon). Patients can experience severe, recurrent pain that disappears with massage, physical manipulation, or contorting the body. The intestine has a tendency to prolapse into itself like a telescope (intussusception). The "stomach may growl" frequently, and there may be considerable abdominal discomfort. Intestinal bleeding occurs, often sufficiently to cause anemia, but is commonly only discovered in the stool by laboratory testing. Untreated patients may develop intestinal malignancies by their early forties. Intussusception, or telescoping, can cause serious complications such as intestinal obstruction and gangrene (necrosis or death of the tissue) requiring surgery. Intestinal bleeding can also become quite severe. Causes Peutz-Jeghers Syndrome is inherited through an autosomal dominant mechanism. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Related Disorders Peutz-Jeghers Syndrome is related to several syndromes in which familial polyposis plays a role. In familial adenomatous colon polyposis, numerous polyps develop in the large intestine and are associated with a very high incidence of colonic cancer if untreated. In Gardener syndrome, polyposis is associated with cysts and tumors in the skull and related structures, and extra teeth. The Canada-Cronkhite syndrome combines familial polyposis with abnormalities of the structures derived from the embryonic ectodermal layer. In Turcot syndrome, familial polyposis occurs with tumors in the central nervous system. Therapies: Standard Large individual polyps or particularly heavily affected sections of the intestine can be removed surgically in patients with Peutz-Jegher Syndrome. If complications such as intussusception or intestinal gangrene develop, the involved intestine must also be resected. The gastrointestinal tract should be X-rayed periodically to detect changes in size and number of polyps. This should be done periodically from childhood through adolescence. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Peutz-Jeghers Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 496-2162 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 767, 771. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 817, 2322.