A case report of a patient with blue rubber bleb nevus syndrome presenting with severe gastrointestinal bleeding

Paweł Siwiński; Aleksandra Sobolewska-Włodarczyk; Marcin Włodarczyk; Krystyna Stec-Michalska; Maria Wiśniewska-Jarosińska

doi:10.20883/jms.2017.120

Authors

Paweł Siwiński Department of Gastroenterology, Medical University of Lodz
Aleksandra Sobolewska-Włodarczyk Department of Gastroenterology, Medical University of Lodz Department of Biochemistry, Medical University of Lodz
Marcin Włodarczyk Department of Biochemistry, Medical University of Lodz Medical University of Lodz, Department of General and Colorectal Surgery
Krystyna Stec-Michalska Department of Biochemistry, Medical University of Lodz
Maria Wiśniewska-Jarosińska

DOI:

https://doi.org/10.20883/jms.2017.120

Keywords:

blue rubber bleb nevus syndrome, gastrointestinal bleeding, anemia

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is an uncommon condition presenting with multiple cutaneous and visceral vascular malformations, predominantly in the gastrointestinal (GI) tract. Typical skin lesion consists of a blue, soft tumor of a rubber like cohesiveness, that is easily compressible and refills slowly on release of pressure. The GI lesions are more clinically relevant, as they may induce chronic bleeding or even life threatening massive hemorrhages. This report presents a case of BRBNS diagnosed in a 52-year-old male with signs of lower gastrointestinal bleeding. The patient presented with melena, fatigue and severe anemia, which were treated by numerous blood transfusions and iron supplementation. Multiple vascular changes were visualized in the small intestine. A typical skin lesion was also present in the skin. Additionally, this report describes the clinical aspects of the syndrome, diagnostic preferences, as well as possible critical complications.

Downloads

Download data is not yet available.

References

Gilbey LK, Girod CE. Blue rubber bleb nevus syndrome: endobronchial involvement presenting as chronic cough. Chest. 2003;124(2):760–763.

Andersen JM. Blue rubber bleb nevus syndrome. Curr Treat Options Gastroenterol. 2001;4(5):433–440.

Fishman SJ, Smithers CJ, Folkman J et al. Blue Rubber Bleb Nevus Syndrome. Ann Surg. 2005;241(3):523–528.

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

Starr BM, Katzenmeyer WK, Guinto F, Pou AM. The blue rubber bleb nevus syndrome: a case with prominent head and neck findings. Am J Otolaryngol. 2005;26(4):282–284.

Nahm WK, Moise S, Eichenfield LF et al. Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation. J Am Acad Dermatol. 2004;50(Suppl. 5):101–106.

Mulliken JB, Glowacki J. Hemangiomas and vascular malformations of infants and children: a classi?cation based on endothelial characteristics. Plast Reconstr Surg. 1982;69:412–420.

Rodriguez D et al. Blue Rubber Bleb Nevus Syndrome: A case report. Acta Medica Mediterr. 2013;29(3):411–413.

Bean W. Vascular Spiders and Related Lesions of the Skin. Spring?eld, Charles C Thomas. 1958; p. 178–185.

Akhiani M, Soheil F, Alireza G, Vahideh L. Extensive Blue Rubber Bleb Nevus Syndrome with Multiple Gastrointestinal Venous Malformations: A Case Report. Iranian Journal of Dermatol. 2009;12(3):99–102.

Oranje AP. Blue rubber bleb nevus syndrome. Pediatr Dermatol. 1986;3:304–10.

Zahedi MJ, Darvish Moghadam S, Seyed Mirzaei SM, Dehghani M, Shafiei Pour S, Rasti A. Blue Rubber Bleb Nevus Syndrome as a rare Cause of Iron Deficiency Anemia: a Case Report and Review of Literature. Middle East J Dig Dis. 2013;5(4):235–239.

Torchia D, Schincaglia E, Palleschi GM. Blue rubber-bleb naevus syndrome arising in the middle age. Int J Clin Pract. 2009;64(1):115–117.

Gallo SH, McClave SA. Blue rubber bleb nevus syndrome: gastrointestinal involvement and its endoscopic presentation. Gastrointest Endosc. 1992;38(1):72–76.

Rehman SU, Hazir T, Nisar YB, Krishin J, Azam M, Hassan M. Blue Rubber Bleb Nevus Syndrome : associated with Severe GI Bleeding requiring one hundred Blood Transfusions. J Pak Med Assoc. 2003;53(11):570–573.

Xue-Li Jin, Zhao-Hong Wang X-BX. Blue rubber bleb nevus syndrome: case report and literature review. World J Gastroenterol. 2014;20(45):17254–17259.

Dobru D, Seuchea N, Dorin M, Careianu V. Blue rubber bleb nevus syndrome: case report and literature review. Rom J Gastroenterol. 2004;13(3):237–240.

Bahl A, Raghavan A, Sinha S. Blue rubber bleb naevus syndrome and chiari malformation: High risk of peroperative haemorrhage. Turk Neurosurg. 2013;23(6):818–820.

Gallione CJ, Pasyk K a, Boon LM et al. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet. 1995;32(3):197–199.

Certo M, Lopes L, Ramada J. Blue Rubber Bleb Nevus Syndrome: Manifestations at Computed Tomography. Acta radiol. 2007;48(9):962–966.

Jamroz E, Pyrkosz A, Micuła J, Madziara W, Kajor M, Paprocka J. Blue rubber bleb nevus syndrome in 2 years old girl. Child Neurology. 2013;22(45):61–65.

Pennazio M, Rondonotti E, de Franchis R. Capsule endoscopy in neoplastic diseases. World J Gastroenterol. 2008;14(34):5245–5253.

Choi KK, Kim JY, Kim MJ et al. Radical resection of intestinal blue rubber bleb nevus syndrome. J Korean Surg Soc. 2012;83(5):316–320.

Shovlin CL, Guttmacher AE, Buscarini E et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91(1):66–67.

Meine JG, Schwartz RA, Janniger CK. Klippel-Trenaunay-Weber syndrome. Cutis. 1997;60(3):127–132.

Shepherd V, Godbolt A, Casey T. Maffucci’s syndrome with extensive gastrointestinal involvement. Australas J Dermatol. 2005;46(1):33–37.

Oosterheert JJ, Bousema MT, Lagendijk J, Kramer MHH. The blue rubber bleb nevus syndrome co-existing with celiac disease. Neth J Med. 2006;64(11):431–434.

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):183–188.

Boente MD, Cordisco MR, Frontini MD, Asial RA. Blue rubber bleb nevus (Bean syndrome): evolution of four cases and clinical response to pharmacologic agents. Pediatr Dermatol. 1999 May-Jun;16(3):222-7.

Yuksekkaya H, Ozbek O, Keser M, Toy H. Blue Rubber Bleb Nevus Syndrome: Successful Treatment With Sirolimus. Pediatrics 2012;129(4):1080–1084.

Domini M, Aquino A, Fakhro A et al. Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage: which treatment? Eur J Pediatr Surg Off J Austrian Assoc Pediatr Surg. 2002;12(2):129–133.

Dieckmann K, Maurage C, Faure N et al. Combined laser-steroid therapy in blue rubber bleb nevus syndrome: case report and review of the literature. Eur J Pediatr Surg Off J Austrian Assoc Pediatr Surg. 1994;4(6):372–374.

Shin SH, Chae HS, Ji JS, et al. A case of blue rubber bleb nevus syndrome. Korean J Intern Med. 2008;23(4):208–212.