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$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.