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$Unique_ID{BRK03974}
$Pretitle{}
$Title{Mastocytosis}
$Subject{Mastocytosis Systemic Mastocytosis Systemic Mast Cell Disease Mast
Cell Leukemia Urticaria Pigmentosa }
$Volume{}
$Log{}
Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders,
Inc.
441:
Mastocytosis
** IMPORTANT **
It is possible the main title of the article (Mastocytosis) is not the
name you expected. Please check the SYNONYMS listing on the next page to
find alternate names, disorder subdivisions, and related disorders covered by
this article.
Synonyms
Systemic Mastocytosis
Systemic Mast Cell Disease
DISORDER SUBDIVISIONS
Mast Cell Leukemia
Information on the following diseases can be found in the Related
Disorders section of this report:
Urticaria Pigmentosa
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 of this report.
Mastocytosis is a genetic disorder characterized by abnormal
accumulations of specific cells (mast cells) normally found in connective
tissue. The liver, spleen, lungs, bone, skin, and sometimes the membrane
surrounding the brain and spine (meninges) may be affected. Cases beginning
during adulthood tend to involve the inner organs more than the skin, whereas
during childhood, the condition is often marked by skin manifestations with
minimal organ involvement.
Symptoms
Mastocytosis is initially characterized by a vague feeling of discomfort or
ill health, weakness, nausea, vomiting, heart beat irregularities, weight
loss, and/or diarrhea. In adults, this disorder usually occurs with minimal
skin involvement. When cases begin during childhood, the skin tends to be
affected more than the other organs. Discolored, thickened spots which can
join or run together, and dilated blood vessels may appear on the skin.
Other skin manifestations may include patches associated with progressive
overdevelopment of white blood cells, and chronic flat, patterned skin
growths. Discoloration may be minimal in affected skin areas although light
rubbing or stroking may produce redness and swelling.
The mucous membranes of the mouth, nose, and rectum may be involved. The
liver, spleen, and lymph nodes may become enlarged. Bones affected by
Mastocytosis may become softened and deteriorate, although some new bone
growth may occur with thickening of the outer portions or spongy inner areas
of bones. Duodenal ulcer is a rare complication of mastocytosis and may be
associated with upper abdominal pain and bleeding.
Causes
Mastocytosis is a genetic disorder although the exact mode of inheritance is
not known. Symptoms may be caused by a an overproduction and release of
histamine from connective tissue (mast) cells. These cells accumulate in
various organs or in the skin. Histamine is a natural chemical produced by
the body that normally causes reactions in smooth muscles and capillaries,
and stimulates gastric secretions.
Affected Population
Mastocytosis affects males and females in equal numbers. It can begin during
childhood, but most commonly affects adults.
Related Disorders
Symptoms of the following disorder can be similar to those of Mastocytosis.
Comparison may be useful for a differential diagnosis:
Urticaria Pigmentosa is a form of mast cell disease limited to the upper
skin layer. A chronic eruption occurs characterized by brownish elevated
spots (papules) which may be surrounded by reddened itchy skin when stroked.
On the other hand, Mastocytosis is characterized by involvement of various
organs with or without the skin symptoms. (For more information on this
disorder, choose "Urticaria Pigmentosa" as your search term in the Rare
Disease Database).
Therapies: Standard
Treatment of Mastocytosis is directed at both controlling overproduction and
release of mast cells, and blocking the potential effects of too much
histamine. Use of a combination of antihistamine drugs such as
chlorpheniramine and cimetidine, or cromolyn sodium may be helpful. In
advanced stages of mast cell accumulations, surgery may be indicated to
improve the functioning of affected organs. Other treatment is symptomatic
and supportive.
A new drug, oral cromolyn sodium (Gastrocrom R) is being used to
stabilize the mast cell membrane, thereby preventing attacks from occuring as
well as relieving symptoms of Mastocytosis. The manufacturers of the drug,
Fisons Corporation, have in place a Patient Assistance Program, established
to provide Gastrocrom R free of charge to needy patients. For more
information, patients can write to: Fisons Corp., Gastrocrom Patient
Assistance Program, Box 1776, Rochester, NY 14603. Physicians can call the
Gastrocrom Mastocytosis Hotline at 1-800-727-6100.
Therapies: Investigational
Clinical trials are underway to study systemic mast cell stimulation.
Interested persons may wish to contact:
Dr. L. Jackson Roberts, II
514 Medical Research Bldg.
Vanderbilt University
Division of Clinical Pharmacology
Nashville, TN 37232
(615) 322-3304
to see if further patients are needed for this research.
This disease entry is based upon medical information available through
January 1992. 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 Mastocytosis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
NIH/National Cancer Institute
9000 Rockville Pike, Bldg. 31, Rm. 1A2A
Bethesda, MD 20892
1-800-4-CANCER
The National Cancer Institute has developed PDQ (Physician Data Query), a
computerized database designed to give doctors quick and easy access to many
types of information vital to treating patients with this and many other
types of cancer. To gain access to this service, a doctor can contact the
Cancer Information Service offices at 1-800-4-CANCER. Information
specialists at this toll-free number can answer questions about cancer
prevention, diagnosis, and treatment.
References
MASTOCYTOSIS: A REVIEW: D.H. Stein; Pediatr Dermatol (November 1986, issue
3(5)). Pp. 365-375.