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$Unique_ID{BRK03533}
$Pretitle{}
$Title{Blue Rubber Bleb Nevus}
$Subject{Blue Rubber Bleb Nevus Bean Syndrome Maffucci Syndrome Von
Hippel-Lindau Disease Hemangioma}
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
605:
Blue Rubber Bleb Nevus
** IMPORTANT **
It is possible that the main title of the article (Blue Rubber Bleb
Nevus) the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Bean Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report:
Maffucci Syndrome
Von Hippel-Lindau Disease
Hemangioma
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.
Blue Rubber Bleb Nevus is a very rare congenital blood vessel (vascular)
disorder affecting the skin surface as well as the internal organs of the
body. Multiple distinctive nodules composed of many blood vessels
(hemangiomas) are the primary feature of this disorder. These rubbery skin
hemangiomas are blister-like in appearance and vary in color, size, shape,
number and site. They may be sensitive to the touch and are usually non-
cancerous (benign).
Symptoms
Blue Rubber Bleb Nevus is characterized by soft elevated blue, blue-black or
purplish-red swellings on the skin or just under the skin. The word NEVUS
means birthmark, which indicates that some hemangiomas are usually present at
birth. The nodules may be tender, contain blood and be easily compressed.
Excessive sweating (hyperhidrosis) may occur in the surrounding areas.
External hemangiomas are usually located on the upper arms or trunk.
Internally, hemangiomas may be located in many different sites such as, the
liver, lungs, spleen, gallbladder, kidney and skeletal muscles. Serious
complications may accompany internal growths. When the gastrointestinal
tract is affected uncontrolled bleeding may result in chronic anemia. If
nevi are located in the brain, they may cause bleeding (hemorrhage) and
increased intracranial pressure. There is generally an increased risk of
internal hemorrhage as a result of rupture of these nevi.
Causes
Blue Rubber Bleb Nevus is inherited as an autosomal dominant trait. (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 other normal gene and resulting in appearance of the disease. The risk
of transmitting the disorder from affected parent to offspring is fifty
percent for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Blue Rubber Bleb Nevus affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Blue Rubber
Bleb Nevus. Comparisons may be useful for a differential diagnosis.
Maffucci Syndrome is characterized by multiple benign growths on the
skin, cartilage and bones. The lesions appear at birth or shortly
thereafter, but may not become evident for several years. The more commonly
associated vascular lesions are; large growths containing blood-filled spaces
due to dilation and thickening of the walls of the capillary loops
(cavernous hemangiomas), small thick masses of capillaries (capillary
hemangiomas), and dilation of the veins (phlebectasia). Patients with
Maffucci Syndrome may develop associated malignancies especially
chondrosarcomas. These malignancies develop from bone and soft tissue
lesions. (For more information on this disorder, choose "Maffucci" as your
search term in the Rare Disease Database).
Von Hippel-Lindau Disease is a hereditary disorder characterized by
multiple focal tissue malformations called hamartomas. These growths may be
found in the retina, brain, kidneys, adrenal glands, and other organs.
Symptoms may include headaches, dizziness and failure of muscular
coordination (ataxia). Chronic high blood pressure may also be present. The
disorder may begin during young adulthood, but can appear as early as the age
of eight. Bulges in the blood vessels (aneurysms) may develop which may form
a nodule (angioma) that resembles a balloon. Benign tumors
(pheochromocytomas) of the adrenal glands may be present as well, causing
chronic high blood pressure, pounding heartbeat, headache, cold hands and
feet, and excessive sweating. (For more information on this disorder, choose
"Von Hippel-Lindau" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Blue Rubber Bleb Nevus primarily involves surgical removal of
the hemangioma. Carbon dioxide laser surgery is recommended for removal of
external hemangiomas. Removal of internal hemangiomas usually requires,
conventional surgery. Surgical resection may be recommended to treat growths
in the gastrointestinal tract. Genetic counseling may be of benefit for
patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through April
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 Blue Rubber Bleb Nevus, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Nevus Network
1400 S. Joyce St., #C1201
Arlington VA 22202
(703) 920-2349
(405) 377-3403
Giant Congenital Pigmented Nevus Support Group
12 Twixt Hill Rd.
Ridgefield, CT 06877
(203) 438-3863
Nevus Support Group
58 Necton Rd.
Wheathampstead, Herts
AL4 8AU England
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
For genetic information and genetic counseling referrals:
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
MENDELIAN INHERITANCE IN MAN 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986, Pp. 105.
BLUE RUBBER BLEB NEVUS SYNDROME: REPORT OF A CASE. G. Nakagawara, et al.;
Dis Colon Rectum (July-August, 1977, issue (20 (5)). Pp. 421-427.
BLUE RUBBER BLEB NEVUS SYNDROME PRESENTING WITH RECURRENCES. K. S.
Sandhu, et al.; Dig Dis Sci (February, 1987, issue 32 (2)). Pp. 214-219.
CENTRAL NERVOUS SYSTEM INVOLVEMENT IN BLUE RUBBER BLEB NEVUS SYNDROME, S.
Satya-Murti, et al., Arch Neurol (November, 1986, issue 43 (11)). Pp. 1184-
1186.