Blue Rubber Bleb Nevus Syndrome 

  • Author: Basil S Cherpelis, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Apr 9, 2010
 

Background

Blue rubber bleb nevus syndrome (BRBNS) is a syndrome characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the GI tract. In 1860, Gascoyen first described an association between cavernous hemangiomas of the skin and similar lesions in the GI tract. In 1958, Bean further described these lesions and coined the term blue rubber bleb nevus syndrome. Blue rubber bleb nevus syndrome is an important syndrome because of its potential for serious or fatal bleeding. Note the image below.

Blue rubber bleb nevus syndrome. Blue rubber bleb nevus syndrome.

Also see the eMedicine article, Dermatologic Manifestations of Gastrointestinal Disease.

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Pathophysiology

The cutaneous and GI systems most frequently are involved with multiple vascular blebs or nodules. However, case reports have demonstrated that the central nervous system, thyroid, parotid, eyes, oral cavity, musculoskeletal, oral cavity, lungs, kidney, liver, spleen, and bladder also may be affected.

Histopathologic examination of lesions reveals blood-filled ectatic vessels, lined by a single layer of endothelial cells, with surrounding thin connective tissue.

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Epidemiology

Frequency

International

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with only approximately 150 cases reported in the world's literature. Most cases are sporadic, but autosomal dominant inheritance has been reported.

Mortality/Morbidity

The mortality and morbidity associated with blue rubber bleb nevus syndrome (BRBNS) depends on the extent of visceral organ involvement. Most patients have a normal life span with cosmesis being the major concern. No malignant transformation of cutaneous or visceral lesions has been reported. Some patients may have severe hemorrhage from the GI tract, which can be fatal. Serial transfusions and periodic surveillance can modify the morbidity of the disease. Lesions involving bones and joints can cause profound discomfort and loss of function, requiring amputations in some cases. Rarely, central nervous system involvement can be fatal.[1]

Also see the clinical trial, Registry for Vascular Anomalies Associated With Coagulopathy.

Race

Blue rubber bleb nevus syndrome (BRBNS) has been reported in persons of all races,[2] although whites appear to be most frequently affected.

Sex

Blue rubber bleb nevus syndrome (BRBNS) affects males and females equally.

Age

Cutaneous lesions of blue rubber bleb nevus syndrome (BRBNS) are often apparent at birth or manifest in early childhood, but late onset, beyond midlife, has been reported. GI involvement usually becomes evident during early adulthood.

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Contributor Information and Disclosures
Author

Basil S Cherpelis, MD  Assistant Professor, Chief of Dermatologic Surgery, Department of Dermatology and Cutaneous Surgery, Assistant Professor, Department of Oncologic Sciences, University of South Florida; Consulting Staff, Moffitt Cancer Center, Tampa General Hospital and James A Haley Veterans Affairs Medical Center

Basil S Cherpelis, MD is a member of the following medical societies: American Academy of Dermatology, American College of Mohs Micrographic Surgery and Cutaneous Oncology, American Society for Dermatologic Surgery, and Association of Professors of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Neil Alan Fenske, MD  Chairman, Department of Dermatology and Cutaneous Surgery, Professor, Department of Dermatology and Cutaneous Surgery, Department of Pathology and Cell Biology, Department of Oncologic Sciences, University of South Florida College of Medicine

Disclosure: Dermik Honoraria Speaking and teaching; Amgen Honoraria Speaking and teaching; Graceway Pharmaceuticals Honoraria Speaking and teaching; Abbott Honoraria Speaking and teaching

Specialty Editor Board

Bernice R Krafchik, MBChB, FRCPC  Professor Emeritus, Department of Pediatrics, Section of Dermatology, University of Toronto

Bernice R Krafchik, MBChB, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, Canadian Medical Association, College of Physicians and Surgeons of Ontario, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Richard P Vinson, MD  Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD  Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

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