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Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder (OMIM # 112200) characterized by multifocal venous malformations mainly of the skin, soft tissue and gastrointestinal tract which may occur however in any tissue including the nervous system (Enjolras and Mulliken 1997, Fretzin and Potter 1965, Moodley and Ramdial 1993, Mulliken and Glowacki 1982, Munkvad 1983, Nahm et al. 2004, Paules et al. 1993).

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References

  • Andersen JM (2004) Blue rubber bleb nevus syndrome. In: Roach SE, Miller VS (eds.) Neurocutaneous Disorders. New York, Cambridge University Press, pp. 154–158.

    Google Scholar 

  • Arguedas MR, Wilcox CM (1999) Blue rubber bleb nevus syndrome. Gastrointest Endosc 50: 544.

    Article  PubMed  CAS  Google Scholar 

  • Badran AM, Vahedi K, Berrebi D, Catana D, De Lagausie P, Drouet L, Ferkadji F, Mougenot JF (2007) Pediatric ampullar and small bowel blue rubber bleb nevus syndrome diagnosed by wireless capsule endoscopy. J Pediatr Gastroenterol Nutr 44: 283–286.

    Article  PubMed  Google Scholar 

  • Baker AL, Kahn PC, Binder SC, Patterson JF (1971) Gastrointestinal bleeding due to blue rubber bleb nevus syndrome. A case diagnosed by angiography. Gastroenterology 61: 530–534.

    PubMed  CAS  Google Scholar 

  • Bean WB (1958) Blue rubber-bleb nevi of skin and gastrointestinal tract. In: Bean WB (ed.) Vascular Spiders and Related Lesions of the skin. Springfield, IL: Charles Thomas Publishers, pp. 178–185.

    Google Scholar 

  • Beluffi G, Romano P, Matteotti C, Minniti S, Ceffa F, Morbini P (2004) Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome. Pediatr Radiol 34: 742–745.

    Article  PubMed  Google Scholar 

  • Berlyne GM, Berlyne N (1960) Anaemia due to blue rubber bleb nevus disease. Lancet 2: 1275–1277.

    Article  Google Scholar 

  • Blackford S, Roberts DL (1991) Familial multiple blue nevi. Clin Exp Dermatol 16: 308–309.

    Article  PubMed  CAS  Google Scholar 

  • Boente MD, Cordisco MR, Frontini MD, Asial RA (1999) Blue rubber bleb nevus (Bean syndrome): evolution of four cases and clinical response to pharmacologic agents. Pediatr Dermatol 16: 222–227.

    Article  PubMed  CAS  Google Scholar 

  • Boon LM, Mulliken JB, Vikkula M, Watkins H, Seidman J, Olsen BR, Warman ML (1994) Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet 3: 1583–1587.

    Article  PubMed  CAS  Google Scholar 

  • Bowers M, McNulty O, Mayne E (2001) Octreotide in the treatment of gastrointestinal bleeding caused by angiodysplasia in two patients with von Willebrand’s disease. Br J Haematol 108: 524–527.

    Article  Google Scholar 

  • Browne AF, Katz S, Miser J, Boles ET Jr (1983) Blue rubber bleb nevi as a cause of intussusception. J Pediatr Surg 18: 7–9.

    Article  PubMed  CAS  Google Scholar 

  • Calvert JT, Riney TJ, Kontos CD, Cha EH, Prieto VG, Shea CR, Berg JN, Nevin NC, Simpson SA, Pasyk KA, Speer MC, Peters KG, Marchuk DA (1999) Allelic and locus heterogeneity in inherited venous malformations. Hum Mol Genet 7: 1279–1289.

    Article  Google Scholar 

  • Carvalho S, Barbosa V, Santos N, Machado E (2003) Blue rubber-bleb nevus syndrome: report of a familial case with a durai arteriovenous fistula. Am J Neuroradiol 24: 1916–1918.

    PubMed  Google Scholar 

  • Cherpelis BS, Fenske NA (2006) Blue rubber bleb nevus syndrome. E-medicine: http://www.emdeicine.com/derm/topic56.htm

    Google Scholar 

  • De Bona M, Bellumat A, De Boni M (2005) Capsule endoscopy for the diagnosis and follow-up of blue rubber bleb nevus syndrome. Dig Liver Dis 37: 451–453.

    Article  PubMed  Google Scholar 

  • Deng ZH, Xu CD, Chen SN (2008) Diagnosis and treatment of blue rubber bleb nevus syndrome in children. World J Pediatr 4: 70–73.

    Article  PubMed  Google Scholar 

  • Dieckmann K, Maurage C, Faure N, Margulies A, Lorette G, Rudler J, Rolland JC (1994) Combined lasersteroid therapy in blue rubber bleb nevus syndrome: case report and review of the literature. Eur J Pediatr Surg 4: 372–374.

    Article  PubMed  CAS  Google Scholar 

  • Edelstein S, Naidich TP, Newton TH (2005) The rare phakomatoses. In: Tortori-Donati P (ed.) Pediatric Neuroradiology. Brain. Berlin: Springer, pp. 819–854.

    Google Scholar 

  • Enjolras O, Mulliken JB (1997) Vascular tumors and vascular malformations (new issues). Adv Dermatol 13: 375–423.

    PubMed  CAS  Google Scholar 

  • Fine ERM, Derbes VJ, Clatk WH Jr (1961) Blue rubber bleb nevus. Arch Dermatol 84: 802–805.

    PubMed  CAS  Google Scholar 

  • Fish L, Fireman Z, Kopelman Y, Sternberg A (2004) Blue rubber bleb nevus syndrome: small-bowel lesions diagnosed by capsule endoscopy. Endoscopy 36: 836.

    Article  PubMed  CAS  Google Scholar 

  • Fishman SJ, Smithers CJ, Folkman J, Lund DP, Burrows PE, Mulliken JB, Fox VL (2005) Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg 241: 523–528.

    Article  PubMed  Google Scholar 

  • Fretzin DF, Potter B (1965) Blue rubber bleb nevus. Arch Intern Med 116: 924–929.

    Article  PubMed  CAS  Google Scholar 

  • Gabikian P, Clatterbuck RE, Gailloud P, Rigamonti D (2003) Developmental venous anomalies and sinus pericranii in the blue rubber-bleb nevus syndrome. Case report. J Neurosurg 99: 409–411.

    Google Scholar 

  • Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML, Perikac-Vance MA, Marchuk DA (1995) A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet 32: 197–199.

    Article  PubMed  CAS  Google Scholar 

  • Gallo SH, McClave SA (1992) Blue rubber bleb nevus syndrome: gastrointestinal involvement and its endoscopic presentation. Gastrointest Endosc 38: 72–76.

    Article  PubMed  CAS  Google Scholar 

  • Garen PD, Sahn EE (1994) Spinal cord compression in blue rubber bleb nevus syndrome. Arch Dermatol 130: 934–935.

    Article  PubMed  CAS  Google Scholar 

  • Gascoyen M (1860) Case of naevus involving the parotid gland, and causing death from suffocation: naevi of the viscera. Trans Pathol Soc Lond 11: 267.

    Google Scholar 

  • Gil-Nunez AC, Mateo D, Lazaro P, Gimenez-Roldan S (1983) Multiple calcified hemangiomas of the brain and the blue rubber bleb nevus syndrome. Arch Neurobiol (Madr) 46: 167–176.

    CAS  Google Scholar 

  • Gonzalez D, Elizondo BJ, Haslag S, Buchanan G, Burdick JS, Guzzetta PC, Hicks BA, Andersen JM (2001) Chronic subcutaneous octreotide decreases gastrointestinal blood loss in blue rubber-bleb nevus syndrome. J Pediatr Gastroenterol Nutr 33: 183–188.

    Article  PubMed  CAS  Google Scholar 

  • Hashimoto Y, Eto K, Uyama E, Uchino M, Araki S (1989) Blue rubber bleb nevus syndrome presented vascular dementia and chronic DIC: a case report. Rinsho Shinkeigaku 29: 202–208.

    PubMed  CAS  Google Scholar 

  • History of Medicine (2006) Website of the United States National Library of Medicine, National Institutes of health: http://www.nlm.nih.gov/hmd/manuscripts/ead/bean.html

    Google Scholar 

  • Hoffman T, Chasko S, Safai B (1978) Association of blue rubber bleb nevus syndrome with chronic lymphocytic leukemia and hypernephroma. Johns Hopkins Med J 142: 91–94.

    PubMed  CAS  Google Scholar 

  • Hofhuis WJ, Oranje AP, Bouquet J, Sinaasappel M (1990) Blue rubber-bleb naevus syndrome: report of a case with consumption coagulopathy complicated by manifest thrombosis. Eur J Pediatr 149: 526–528.

    Article  PubMed  CAS  Google Scholar 

  • Jaffe RH (1929) Multiple hemangiomas of the skin and of the internal organs. Arch Pathol 7: 44–54.

    Google Scholar 

  • Kim SJ (2000) Blue rubber bleb nevus syndrome with central nervous system involvement. Pediatr Neurol 22: 410–412.

    Article  PubMed  CAS  Google Scholar 

  • Kopacova M, Tacheci I, Koudelka J, Kralova M, Rejchrt S, Bures J (2007) A new approach to blue rubber bleb nevus syndrome: the role of capsule endoscopy and intraoperative enteroscopy. Pediatr Surg Int Jan 5 [Epub ahead of print].

    Google Scholar 

  • Korpelainen EI, Karkainnen M, Gunji J, Vikkula M, Alitalo K (1999) Endothelial receptor tyrosine kinase activate the STAt signalling pathway: mutant Tie-2 causing venous malformations mapstochro-alf a distinct STAT activations. Oncogene 18: 1–8.

    Article  PubMed  CAS  Google Scholar 

  • Kunishige M, Azuma H, Masuda K et al. (1997) Interferon alfa-2 for disseminated intravascular coagulation in a patient with blue rubber bleb nevus syndrome: a case report. Angiology 48: 273–277.

    Article  PubMed  CAS  Google Scholar 

  • Lee C, Debnath D, Whitburn T, Farrugia M, Gonzalez F (2008) Synchronous multiple small bowel intussusceptions in an adult with blue rubber bleb naevus syndrome: report of a case and review of literature. World J Emerg Surg 3: 3.

    Article  PubMed  Google Scholar 

  • Lichtig C, Alroy G, Gellei B, Valero A (1971) Multiple skin and gastro-intestinal haemangiomata blue rubber-bleb nevus. Report of case with thrombocytopenia, hypercalcemia and coinciding cystic cell carcinoma. Dermatologica 142: 356–362.

    PubMed  CAS  Google Scholar 

  • Lu R, Krathen RA, Sanchez RL, May NC, Hsu S (2005) Multiple glomangiomas: potential for confusion with blue rubber bleb nevus syndrome. J Am Acad Dermatol 52: 731–732.

    Article  PubMed  Google Scholar 

  • Malhotra P, Menon MC, Anand SS, Narula A, Varma S (2008) Haemopericardium in blue rubber bleb naevus syndrome (Bean syndrome). Med J Aust 188: 416.

    PubMed  Google Scholar 

  • Maunoury V, Turck D, Brunetaud JM, Marti R, Cortot A, Farriaux JP, Paris JC (1990) Blue rubber bleb nevus syndrome. 3 Cases treated with a Nd:YAG laser and bipolar electrocoagulation. Gastroenterol Clin Biol 14: 593–595.

    PubMed  CAS  Google Scholar 

  • McCarthy JC, Goldberg MJ, Zimbler S (1982) Orthopaedic dysfunction in the blue rubber-bleb nevus syndrome. J Bone Joint Surg Am 64: 280–283.

    PubMed  CAS  Google Scholar 

  • McIntosh N, Harris J (1970) Multiple gastrointestinal haemangiomata. Br Med J 4: 600.

    Article  PubMed  CAS  Google Scholar 

  • McKinlay JR, Kaiser J, Barrett TL, Graham B (1998) Blue rubber bleb naevus syndrome. Cutis 62: drome.

    Google Scholar 

  • Mejía-Rodríguez S, Valencia-Herrera A, Escobar-Sánchez A, Mena-Cedillos C (2008) Dermoscopic features in Bean (blue rubber bleb nevus) syndrome. Pediatr Dermatol 25: 270–272.

    Article  PubMed  Google Scholar 

  • Moodley M, Ramdial P (1993) Blue rubber bleb nevus syndrome: case report and review of the literature. Pediatrics 92: 160–162.

    PubMed  CAS  Google Scholar 

  • Mulliken JB, Glowacki J (1982) Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg 69: 412–422.

    Article  PubMed  CAS  Google Scholar 

  • Munkvad M (1983) Blue rubber bleb nevus syndrome. Dermatologica 167: 307–309.

    Article  PubMed  CAS  Google Scholar 

  • Nahm WK, Moise S, Eichenfield LF, Palier AS, Nathanson L, Malicki DM, Friedlander SF (2004) Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation. J Am Acad Dermatol 50: S101–S106.

    Article  PubMed  Google Scholar 

  • Park J, Chung KY (2006) Blue rubber bleb nevus syndrome with central nervous system involvement. J Dermatol 33: 649–651.

    Article  PubMed  Google Scholar 

  • Paules S, Baack B, Levisohn D (1993) Tender bluish papules on the trunk and extremities. Blue rubber-bleb nevus syndrome. Arch Dermatol 129: 1505–1506, 1508–1509.

    Article  PubMed  CAS  Google Scholar 

  • Radke M, Waldschmidt J, Stolpe HJ, Mix M, Richter I (1996) Blue rubber-blebnevus syndrome. predominant urinary bladder hemangiomatosis. Eur J Pediatr Surg 3: 313–316.

    Article  Google Scholar 

  • Rice JS, Fischer DS (1996) Blue rubber-bleb nevus syndrome. Generalized cavernous hemangiomatosis or venous hamartoma with medulloblastoma of the cerebellum: case report and review of the literature. Arch Dermatol 186: 503–511.

    Google Scholar 

  • Romao Z, Pontes J, Lopes H, Vasconcelos H, Portela F, Andrade P, Leitao MC, Donato A, Freitas D (1999) Endosonography in the diagnosis of “blue rubber bleb nevus syndrome”: an uncommon cause of gastrointestinal tract bleeding. J Clin Gastroenterol 28: 262–265.

    Article  PubMed  CAS  Google Scholar 

  • Rosenblum W, Nakoneczna I, Konerding H, Nochlin D, Ghatak N (1978) Multiple vascular malformations in the blue rubber bleb nevus syndrome: a case with aneurysm of veni of Galen and vascular lesions suggesting a link to the Weber-Osler-Rendu syndrome Histopathology 2: 301–311.

    CAS  Google Scholar 

  • Sandhu KS, Cohen H, Radin R, Buck FS (1987) Blue rubber bleb nevus syndrome presenting with recurrences. Dig Dis Sci 32: 214–219.

    Article  PubMed  CAS  Google Scholar 

  • Satya-Murti S, Navada S, Eames F (1986) Central nervous system involvement in blue-rubber-bleb-nevus syndrome. Arch Neurol 43: 1184–1186.

    PubMed  CAS  Google Scholar 

  • Shahed M, Hagenmuller F, Rosch T, Classen M, Encke A, Siewert JR, Ysawy MI, al Karawi M (1990) A 19-year-old female with Blue rubber bleb naevus syndrome Endoscopic laser photocoagulation and surgical resection of gastrointestinal angiomata. Endoscopy 22: 54–56.

    Article  PubMed  CAS  Google Scholar 

  • Shannon J, Auld J (2005) Blue rubber bleb naevus syndrome associated with cortical blindness. Ausralas J Dermatol 46: 192–195.

    Article  Google Scholar 

  • Shepherd V, Godbolt A, Casey A (2005) Maffuci’s syndrome with extensive gastrointestinal involvement. Australas J Dermatol 46: 33–37.

    Article  PubMed  Google Scholar 

  • Sherry RG, Walker ML, Meredith VO (1984) Sinus pericranii and venous angioma in blue rubber bleb nevus syndrome. AJNR 5: 832–834.

    PubMed  CAS  Google Scholar 

  • Siafakas C, Fox VL, Nurko S (1998) Use of octreotide for the treatment of severe gastrointestinal bleeding in children. J Pediatr Gastroenterol Nutr 26: 356–359.

    Article  PubMed  CAS  Google Scholar 

  • Starr BM, Katzenmeyer WK, Guinto F, Pou AM (2005) The blue rubber bleb nevus syndrome: a case with prominent head and neck findings. Am J Otolaryngol 26: 282–284.

    Article  PubMed  Google Scholar 

  • Talbot S, Wyatt EH (1970) Blue rubber bleb naevi: report of a family in which only males were affected. Br J Dermatol 82: 37–39.

    Article  PubMed  CAS  Google Scholar 

  • Tanaka N, Tsuda M, Samura O, Miyoshi H, Hara T, Kudo Y (1993) Blue rubber bleb nevus syndromewithp report of a patient with hemangiomas of the vaginal portion of the cervix appearing during pregnancy. J Obstet Gynaecol Res 33: 546–548.

    Article  Google Scholar 

  • Tille JC, Pepper MS (2004) Hereditary vascular anomalies. New insights into their pathogenesis. Arterioscl Vasc Biol 24: 1578–1590.

    Article  CAS  Google Scholar 

  • Tzoufi MS, Sixlimiri P, Nakou I, Argyropoulou MI, Stefanidis CJ, Siamopoulou-Mavridou A (2007) Blue rubber bleb nevus syndrome with simultaneous neurological and skeletal involvement. Eur J Pediatr Oct 13 [Epub ahead of print].

    Google Scholar 

  • Vikkula M, Boon LM, Carraway KL 3rd, Calvert JT, Diamonti AJ, Goumnerov B, Pasyk KA, Marchuk DA, Warman ML, Cantley LC, Mulliken JB, Olsen BR (1996) Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 87: 1181–1190.

    Article  PubMed  CAS  Google Scholar 

  • Vikkula M, Boon LM, Mulliken JB (2001) Molecular genetics of vascular malformations. Matrix Biol 20: 327–335.

    Article  PubMed  CAS  Google Scholar 

  • Walshe MM, Evans CD, Warin RP (1966) Blue rubber bleb naevus. Br Med J 15: 931–932.

    Article  Google Scholar 

  • Waybright EA, Seihorst JB, Rosenblum WI, Suter CG (1978) Blue rubber bleb nevus syndrome with CNS involvement and thrombosis of a vein of galen malformation. Ann Neurol 3: 464–467.

    Article  PubMed  CAS  Google Scholar 

  • Wong YC, Li YW, Chang MH (1994) Gastrointestinal bleeding and paraparesis in blue rubber bleb nevus syndrome. Pediatr Radiol 22: 600–601.

    Article  Google Scholar 

  • Wood MW, With RJ, Kermohan JW (1957) Cavernous hemangiomatosis involving the brain, spinal cord and kidney. Proc Mayo Clin 32: 249–254.

    CAS  Google Scholar 

  • Zellos A, Schwarz KB (2000) Efficacy of octreotide in childrome with chronic gastrointestinal bleeding. J Pediatr Gastroenterol Nutr 30: 442–446.

    Article  PubMed  CAS  Google Scholar 

  • Zietz S, Happle R, Hohenleutner U, Landthaler M (2008) The venous nevus: a distinct vascular malformation suggesting mosaicism. Dermatology 216: 31–36.

    Article  PubMed  Google Scholar 

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Boente, M.C., Cordisco, M.R. (2008). Blue Rubber Bleb Nevus Syndrome (Brbns). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_13

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