Blue Rubber Bleb Nevus Syndrome Clinical Presentation

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

History

Patients with blue rubber bleb nevus syndrome (BRBNS) may present to the dermatologist because of cosmetic concerns. Most lesions of blue rubber bleb nevus syndrome are asymptomatic but some may be spontaneously painful or tender to palpation. Patients with blue rubber bleb nevus syndrome may note increased sweating on the skin overlying the lesion.

Physical complaints or symptoms in blue rubber bleb nevus syndrome vary depending on the organ system involved. Patients may report fatigue from occult blood loss. Hematemesis, melena or frank rectal bleeding may prompt emergent presentations. When bone is involved, there may be complaints of joint pain or impaired ambulation. Extracutaneous lesions also may result in epistaxis, hemoptysis, hematuria, or menorrhagia. Patients may present with blindness due to cerebral or cerebellar cavernomas that may hemorrhage into the occipital lobes.[3]

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Physical

Physical findings in blue rubber bleb nevus syndrome (BRBNS) are divided into cutaneous and extracutaneous manifestations.

Cutaneous manifestations of blue rubber bleb nevus syndrome are as follows:

  • Skin lesions are usually highly characteristic, as multiple, protuberant, dark blue, compressible blebs, a few millimeters to several centimeters in diameter and varied in hue and shape. They have the look and feel of a rubber nipple. Lesions may be few in number or range into the hundreds.
  • Three types of cutaneous lesions have been described in blue rubber bleb nevus syndrome: (1) blue, rubbery, blood-filled sacs with a smooth or wrinkled surface that are easily compressible and promptly refill when pressure is released; (2) large, disfiguring, cavernous lesions that may compress vital structures; and (3) blue, irregular macules.
  • The color of cavernous lesions may appear red, purple-red, blue, or black, and morphology varies from flat to elevated, occasionally pedunculated, nodules.
  • Lesions may be tender to palpation, and overlying hyperhidrosis may be noted.
  • Blue rubber bleb nevus syndrome skin lesions rarely bleed unless traumatized.
  • Progression in size and number of blebs may occur with advancing age.
  • The lesions are principally located on the upper limbs, trunk, and perineum, but they may occur anywhere.[4]
  • Described in a 2008 report,[5]dermoscopic features include a superficial, light-red arborizing venous pattern or vessel dilations; maculae with nondefined borders predominantly on the palms and soles; red-purple nodules with lacunas separated by a white linear structure, corresponding to fibrous demarcations; and lesions with an exophytic, verrucous surface.

Extracutaneous manifestations of blue rubber bleb nevus syndrome are as follows:

  • The visceral organ system most commonly affected is the GI tract. Vascular malformations may occur anywhere from oral to anal mucosa but predominantly occur in the small bowel. In contrast to the skin lesions, the GI lesions often bleed. They may spontaneously rupture causing acute hemorrhage and death. However, most bleeding from the GI tract is slow, minor, chronic, and occult, resulting in iron deficiency anemia from ongoing loss. A case of thrombocytopenia and disseminated intravascular coagulation has been reported in association with blue rubber bleb nevus syndrome. Other complications include intussusception, volvulus, and bowel infarction. These diagnoses should be considered in patients with blue rubber bleb nevus syndrome and abdominal pain.
  • Orthopedic manifestations[6] include skeletal bowing, pathologic fractures, bony overgrowth, and articular derangement. Bone deformities may arise as a result of pressure effects from adjacent vascular lesions. Vertebral lesions have caused spinal cord compression and vertebral collapse, and the lesions may extend into joint spaces affecting range of motion.[7] Extensive lesions also have been reported on the feet, impairing ambulation. Debilitating enlargement occasionally requires amputation of the affected limb.
  • Blue rubber bleb nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, oral cavity, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder.
  • Recurrent thromboembolic events from shunts in visceral lesions led to the development of pulmonary hypertension in one case.[8]
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Causes

The cause of blue rubber bleb nevus syndrome (BRBNS) is unknown. Most cases are sporadic, but autosomal dominance has been reported. Blue rubber bleb nevus syndrome has not been localized to a specific chromosome or gene defect.

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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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