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รltima actualizaciรณn: March 12, 2012
Aรฑos publicados: 1989, 1996, 1998, 2007, 2012
NORD gratefully acknowledges Steven J. Fishman, MD, Stuart and Jane Weitzman Family Chair in Surgery, Co-Director, Vascular Anomalies Center, Department of Surgery, Childrenโs 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.
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.
Treatment
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
Email: [email protected]
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
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
Childrenโs Hospital Boston
617-355-3040 (office)
617-730-0752 (FAX)
TEXTBOOKS
Fishman SJ, Mulliken JB. Blue Rubber Bleb Nevus Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins; 2003:160.
JOURNAL ARTICLES
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.
INTERNET
Cherpelis BS. Blue Rubber Bleb Nevus Syndrome. eMedicine. https://emedicine.medscape.com/article/1082839-overview. Updated April 9, 2010. Accessed February 14, 2012.
NORD y la Fundaciรณn MedicAlert se han asociado en un nuevo programa para brindar protecciรณn a pacientes con enfermedades raras en situaciones de emergencia.
Aprende mรกs https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Asegurarse de que los pacientes y los cuidadores estรฉn equipados con las herramientas que necesitan para vivir su mejor vida mientras manejan su condiciรณn rara es una parte vital de la misiรณn de NORD.
Aprende mรกs https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/Este programa de asistencia, primero en su tipo, estรก diseรฑado para los cuidadores de un niรฑo o adulto diagnosticado con un trastorno raro.
Aprende mรกs https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
View report