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$Unique_ID{BRK03643}
$Pretitle{}
$Title{Cystic Hygroma}
$Subject{Cystic Hygroma Cystic Lymphangioma Fetal Cystic Hygroma FCH Familial
Nuchal Bleb Hygroma Colli Cavernous Lymphangioma Turner Syndrome}
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
631:
Cystic Hygroma
** IMPORTANT **
It is possible that the main title of this article (Cystic Hygroma) is
not the name you expected. Please check the SYNONYM list to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Cystic Lymphangioma
Fetal Cystic Hygroma
FCH
Familial Nuchal Bleb
Hygroma Colli
Information on the following disorders can be found in the Related
Disorders section of this report:
Cavernous Lymphangioma
The following disorder can be associated with Cystic Hygroma:
Turner 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 physician and/or the agencies listed in the "Resources" section
of this report.
Cystic Hygroma is an inborn tumor in the lymph system that may be
inherited through autosomal recessive genes. This progressive disorder is
characterized by a large sac filled with lymph fluid protruding from the
skull at the nape of the neck. The Hygroma is thought to be caused by a
failure of the lymph system to properly connect with the blood vessels in the
neck and thus with the blood circulation system.
Symptoms
Cystic Hygroma is characterized by a sac resembling a bag of water usually at
the nape of the neck. This sac grows under the skin and is filled with lymph
fluid and lymph cells. The sac is thin-walled and compressible, and it grows
rapidly upward toward the ear, or down toward the underarm area. More
rarely, it may originate in the area under the arm, in the groin, the rear of
the abdominal cavity, in the chest wall, the hip or tailbone region.
Surgical or drug treatment usually keeps the tumor from growing very large.
It may, however, become progressive, causing excessive fluids to accumulate
throughout the body tissues (hydrops).
Causes
Cystic Hygroma is thought to be inherited through autosomal recessive genes.
(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 recessive disorders, the condition does not appear
unless a person inherits the same defective gene for the same trait from each
parent. If a person receives one normal gene and one gene for the disease,
he or she will be a carrier for the disease, but usually will show no
symptoms. The risk of transmitting the disease to the children of a couple,
both of whom are carriers for a recessive disorder, is 25 percent. Fifty
percent of their children will be carriers, but healthy as described above.
Twenty-five percent of their children will receive both normal genes, one
from each parent, and will be genetically normal.)
Symptoms of Cystic Hygroma arise from failure of the lymph system to be
properly connected with the blood circulation system.
Affected Population
Cystic Hygroma may be present at birth or it can begin during early
childhood. This disorder affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Cystic
Hygroma. Comparisons may be useful for a differential diagnosis:
Cavernous Lymphangioma (Lymphangioma Cavernosum) is the most common tumor
of the lymph vessels, occurring at birth or during early childhood. Tumors
consist of groups of deep-seated, gray, yellowish pink sacs of 1 to 5 mm in
diameter, filled with lymph fluid and lymph cells. The tumors usually appear
in the skin of the arms, underarm and shoulder area, but they may also appear
on the mouth, throat, tongue, eyelids and around the eyeball, in the groin or
upper thigh. Cavernous Lymphangioma is a slow-growing tumor. The skin over
the sacs may become overgrown. (For more information on this disorder,
choose "Cavernous Lymphangioma" as your search term in the Rare Disease
Database.)
The following disorder may be associated with Cystic Hygroma:
Turner Syndrome is a rare genetic disorder affecting females which is
characterized by lack of sexual development and an XO chromosome pattern in
tissue cells. Small stature, possible mental retardation, heart defects and
various other inborn abnormalities, sometimes including a cystic hygroma in
the neck, also occur. (For more information, choose "Turner" as your search
term in the Rare Disease Database.)
Therapies: Standard
Cystic Hygroma can be detected during pregnancy through ultrasonography and
testing for a greatly elevated level of alpha-1-fetoprotein in the water sac
surrounding the unborn fetus. Treatment of Cystic Hygroma may include
surgery and/or the drug bleomycin in a microsphere-in-oil emulsion. However,
the hygroma may recur after treatment.
Genetic counseling can be helpful for families of patients with Cystic
Hygroma.
Therapies: Investigational
This disease entry is based upon medical information available through
December 1989. 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 Cystic Hygroma, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Lymphatic & Venous Diseases Association
Cambridge Medical Supply
218 Monsignor O'Brien Highway
Cambridge, MA 02141
Cystic Hygroma & Lymphangioma Support Group
Villa Fontane, Church Road
Worth, Crawley, Sussex
RH10 4RT ENGLAND
American Cancer Society
1599 Clifton Rd., NE
Atlanta, GA 30329
(404) 320-3333
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 the public, cancer patients and
families, and health professionals quick and easy access to many types of
information vital to patients with this and many other types of cancer. To
gain access to this service, call:
Cancer Information Service (CIS)
1-800-4-CANCER
In Washington, DC and suburbs in Maryland and Virginia, 636-5700
In Alaska, 1-800-638-6070
In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect)
For genetic information 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
FETAL CYSTIC HYGROMA COLLI: ANTENATAL DIAGNOSIS, SIGNIFICANCE, AND
MANAGEMENT: A.S. Garden, et al.; American Journal Obstet Gynecol (February
1986: issue 154(2)). Pp. 221-225.
TREATMENT OF CYSTIC HYGROMA AND LYMPHANGIOMA WITH THE USE OF BLEOMYCIN
FAT EMULSION: N. Tanigawa, et al.; Cancer (August 15, 1987: issue 60(4)).
Pp. 741-749.
FETAL CYSTIC HYGROMA AND TURNER'S SYNDROME: R.F. Carr, et al.; American
Journal Diseases Children (June 1986: issue 140(6)). June 1986: issue
140(6)). An Journal Diseases Children ME: Pp. 580-583.
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns
Hopkins University Press, 1986. P. 1170.