Blue rubber bleb nevus syndrome

doi:10.1017/CBO9780511545054.021

19 - Blue rubber bleb nevus syndrome

Published online by Cambridge University Press: 31 July 2009

John M. Andersen

Edited by

E. Steve Roach and

Van S. Miller

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John M. Andersen: Affiliation:
Department of Pediatrics, Division of Gastroenterology and Nutrition, University of Texas Southwestern Medical School, Children's Medical Center of Dallas, Texas, USA
E. Steve Roach: Affiliation:
Wake Forest University, North Carolina
Van S. Miller: Affiliation:
University of Texas Southwestern Medical Center, Dallas

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Summary

Introduction

Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal syndrome of cutaneous and systemic venous malformations. Reports of BRBNS are primarily case studies describing treatment of the vascular lesions in one or two patients or a dramatic complication. While the vascular lesions of BRBNS are often characterized in the literature as hemangiomas, the biological behavior and histology of these lesions are most compatible with venous malformations (Mulliken & Glowacki, 1982). Bleeding from venous malformations in the gastrointestinal tract, particularly in the small bowel, may lead to iron deficiency anemia. Gastrointestinal bleeding is the primary morbidity associated with BRBNS, but lesions of the brain and spinal cord occur.

In 1860, Gascolyen probably reported the first case of BRBNS in a 44-year-old man with cutaneous and gastrointestinal vascular lesions, causing gastrointestinal bleeding. In 1958, Bean described two individuals with BRBNS and reviewed the features of six others; he also coined the name blue rubber bleb nevus (Bean, 1958). The syndrome is quite rare with fewer than 150 reported patients in the literature, but its precise incidence is unknown.

Clinical features

Blue rubber bleb nevus syndrome is characterized by the typical blue–black blebs involving both the skin (Fig. 19.1) and internal organs, especially the gastrointestinal tract (Fig. 19.2). Characteristics of the cutaneous and gastrointestinal venous malformations of BRBNS are summarized in Tables 19.1 and 19.2.

Information

Type: Chapter
Information: Neurocutaneous Disorders , pp. 154 - 158

DOI: https://doi.org/10.1017/CBO9780511545054.021 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2004

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References

Andersen, J. M. (2001). Blue rubber bleb nevus syndrome. Current Treatment Options in Gastroenterology, 4: 433–440CrossRef Google Scholar PubMed

Bean, W. (1958). Vascular Spiders and Related Lesions of the Skin. Springfield, Il: Charles C. Thomas

Domini, M., Aquino, A., Fakhro, A. et al., (2002). Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage; which treatment? European Journal of Pediatric Surgery, 12: 129–133CrossRef Google Scholar PubMed

Fishman, S. J., Burrows, P. E., Mulliken, J. B. & Fox, V. L. (2000). Multifocal intestinal resection for gastrointestinal hemorrhage in blue rubber bleb nevus syndrome. Journal of Pediatric Gastroenterology and Nutrition, 31: S39Google Scholar

Garen, P. D. & Sahn, E. E. (1994). Spinal cord compression in the blue rubber bleb nevus syndrome (letter). Archives of Dermatology, 130: 934–935CrossRef Google Scholar

Gonzalez, D., Elizondo, B. J., Haslag, S. et al. (2001). Chronic subcutaneous octreotide decreased gastrointestinal blood loss in blue rubber bleb nevus syndrome. Journal of Pediatric Gastroenterology and Nutrition, 33: 183–188CrossRef Google Scholar PubMed

Jimbou, O., Bureau, B., Fleischmann, M., Litoux, P. & Stalder, J. F. (1993). Blue rubber bleb nevus [French]. Annales De Dermatologie et de Venereologie, 120: 241–243Google Scholar

Kim, S. J. (2000). Blue rubber bleb nevus syndrome with central nervous system involvement. Pediatric Neurology, 22: 410–412CrossRef Google Scholar PubMed

Kunishige, M., Azuma, H., Masuda, K. et al. (1997). Interferon alpha-2a therapy for disseminated intravascular coagulation in a patient with blue rubber bleb nevus syndrome. Angiology, 48: 273–277CrossRef Google Scholar

Mulliken, J. B. & Glowacki, J. (1982). Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plastic and Reconstructive Surgery, 69: 412–422CrossRef Google Scholar PubMed

Oranje, A. P. (1986). Blue rubber bleb nevus syndrome. Pediatric Dermatology, 3: 304–310CrossRef Google Scholar PubMed

Satya-Murti, S., Navada, S. & Eames, F. (1986). Central nervous system involvement in blue rubber bleb nevus syndrome. Archives of Neurology, 43: 1184–1186CrossRef Google Scholar PubMed

Vikkula, M., Boon, L. M., Carraway, K. P. et al. (1996). Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE 2. Cell, 87: 1181–1190CrossRef Google Scholar

Waybright, E. A., Selhorst, J. B., Rosenblum, W. I. & Suter, C. G. (1978). Blue rubber bleb nevus syndrome with CNS involvement and thrombosis of a vein of Galen malformation. Annals of Neurology, 3: 464–467CrossRef Google Scholar PubMed

Wong, Y. C., Li, Y. W. & Chang, M. H. (1994). Gastrointestinal bleeding and paraparesis in blue rubber bleb nevus syndrome. Pediatric Radiology, 24: 600–601CrossRef Google Scholar PubMed

Young, A. E. (1998). Venous and Arterial Malformations, ed J. B. Mulliken & A. E. Young, pp. 196–214. Philadelphia: WB Saunders Co

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