$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.