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NORD is very grateful to Steven J. Fishman, MD, Stuart and Jane Weitzman Family Chair in Surgery, Co-Director, Vascular Anomalies Center, Department of Surgery, Children's Hospital Boston, for assistance in the preparation of this report.
Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or present during early childhood. Lesions in the gastrointestinal tract frequently become apparent during childhood or early adulthood. The lesions are multifocal venous malformations, resulting from abnormal embryonic blood vessel development.
BRBNS is characterized by soft, elevated lesions on the skin or just under the skin that are dark blue, red, purple-red or black in color. The venous malformations may be tender, contain blood and be easily compressed and are usually located on the upper limbs, trunk and soles of the feet but can occur anywhere. The lesions increase in size and become more apparent over time but have not been reported to become cancerous. The organ system most commonly affected by BRBNS is the gastrointestinal (GI) tract, particularly the small intestine. The lesions in the GI tract often bleed and can lead to mild or severe anemia. Iron replacement and/or frequent blood transfusions may be required. The GI lesions can also cause an obstruction or blockage (intussusception) of part of the bowel. Skeletal abnormalities and venous malformations in muscle are sometimes associated with BRBNS.
Blue rubber bleb nevus syndrome is sporadic. Although families have been described in which the condition follows autosomal dominant inheritance, these families actually have other multifocal venous malformations.
Blue Rubber Bleb Nevus Syndrome affects males and females in equal numbers. Approximately 150 cases have been reported in the medical literature.
Arteriovenous malformation (AVM) is a congenital defect in which arteries and veins are tangled and not connected by capillaries. The lack of capillaries allows blood traveling through the abnormal vessels to flow rapidly and under high pressure and prevents the nutrient rich blood in the arteries from reaching the tissues. AVM can occur in many different parts of the body, but those located in the brain, brainstem and spinal cord (neurological AVM) can affect the entire body. (For more information about arteriovenous malformation, choose "arteriovenous malformation" as your search term in the Rare Disease Database).
Capillary malformations are birthmarks that involve the skin only and not the underlying tissues. Most capillary malformations do not cause health problems.
Hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu syndrome) is a rare inherited disorder characterized by malformations of various blood vessels (vascular dysplasia), usually resulting in excessive bleeding (hemorrhaging). Chronic nosebleeds are often the first apparent symptom associated with hereditary hemorrhagic telangiectasia. Malformation of various blood vessels may result in abnormalities affecting various organ systems of the body including the lungs, brain, intestine and liver. Hereditary hemorrhagic telangiectasia is inherited as an autosomal dominant trait. (For more information about hereditary hemorrhagic telangiectasia, choose "hemorrhagic" as your search term in the Rare Disease Database).
Maffucci syndrome is a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped patches of skin (venous malformations). Enchondromas are most often found in certain bones (phalanges) of the hands and feet. Skeletal malformations may include legs that are disproportionate in length and/or abnormal side-to-side curvature of the spine (scoliosis). In many cases, bones may tend to fracture easily. In most cases, venous malformations appear at birth or during early childhood and may be progressive. Maffucci syndrome is inherited as an autosomal dominant genetic trait. (For more information about Maffucci syndrome, choose "Maffucci" as your search term in the Rare Disease Database).
Klippel-Trenaunay syndrome, a rare disorder that is present at birth (congenital), is characterized by abnormal benign growths on the skin (cutaneous) consisting of masses of blood vessels (capillary, venous and lymphatic malformations), and excessive growth (hypertrophy) of the soft tissue and bone of a leg and/or arm (limb). (In individuals with the disorder, such hypertrophy typically affects one side of the body [hemihypertrophy].) In many cases vascular malformations may include distinctive purplish-reddish birthmarks ("port wine stain") on certain areas of the skin. The symptoms and findings associated with the disorder may vary in range and severity from case to case. . (For more information about Klippel-Trenaunay syndrome, choose "Klippel-Trenaunay" as your search term in the Rare Disease Database).
BRBNS is diagnosed by physical examination and a procedure in which the GI tract is illuminated and visualized (endoscopy). Genetic testing for BRBNS is available on a research basis only.
Iron therapy and blood transfusions are used to conservatively manage BRBNS. The skin lesions associated with BRBNS can be treated with laser therapy, injection of chemicals that collapse the lesion (sclerotherapy) or surgical removal. Lesions in the gastrointestinal system are usually not removed unless bleeding leads to anemia and necessitates repeated blood transfusions. Gastrointestinal lesions can be safely removed surgically, but one or several lengthy operations may be required.
Argon plasma coagulation and octreotide acetate have been described in individual cases to reduce GI bleeding, but there are no cases of prolonged durable eradication of bleeding.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
Contact for additional information about blue rubber bleb nevus syndrome:
Steven J. Fishman, MD
Stuart and Jane Weitzman Family Chair in Surgery
Co-Director, Vascular Anomalies Center
Department of Surgery
Children's Hospital Boston
PO Box 8126
Gaithersburg, MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
Home page: http://rarediseases.info.nih.gov/GARD/
PO Box 305
West Salem, NC 44287 USA
Phone #: 419-853-4525
800 #: --
Home page: http://www.nevusnetwork.org/
600 SE Delaware Ave., Suite 200
Bartlesville, OK 74003 USA
Phone #: 918-331-0595
800 #: 877-426-3887
Home page: http://www.nevus.org
One AMS Circle
Bethesda, MD 20892-3675 USA
Phone #: 301-495-4484
800 #: 877-226-4267
Home page: http://www.niams.nih.gov/
Fishman SJ, Mulliken JB. Blue Rubber Bleb Nevus Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins; 2003:160.
Fishman SJ, Smithers CJ, Folkman J, et al: Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg. 2005;5241(3): 523-8.
Apak H, Celkan T, Ozkan A, et al: Blue rubber bleb nevus syndrome associated with consumption coagulopathy: treatment with interferon. Dermatology. 2004;208:345-8.
Ng WT, Kong CK: Argon plasm coagulation for blue rubber bleb nevus syndrome in a female infant. Eur J Pediatr Surg. 2003; 13: 137-9.
Andersen JM. Blue Rubber Bleb Nevus Syndrome. Curr Treat Options Gastroenterol. 2001;4(5):433-440.
Ertem D, Acar Y, Kotiloglu E, et al: Blue rubber bleb nevus syndrome. Pediatrics. 2001; 107(2):418-20.
Gonzalez D, Elizondo BJ, Haslag S, et al: Chronic subcutaneous octreotide decreases gastrointestinal blood loss in blue rubber-bleb nevus syndrome. J Pediatr Gastroenterol Nutr. 2001;33(2): 183-8.
Bak YT, Oh CH, Kim JH, Lee CH: Blue rubber bleb nevus syndrome: endoscopic removal of the gastrointestinal hemangiomas. Gastrointest Endosc. 1997;45(1):90-2.
Morris L, Lynch PM, Gleason WA Jr, et al: Blue rubber bleb nevus syndrome: laser photocoagulation of colonic hemangiomas in a child with microcytic anemia. Pediatr Dermatol. 1992;9(2): 91-4.
Cherpelis BS. Blue Rubber Bleb Nevus Syndrome. eMedicine. http://emedicine.medscape.com/article/1082839-overview. Updated April 9, 2010. Accessed February 14, 2012.
Report last updated: 2012/03/12 00:00:00 GMT+0