Blue Rubber Bleb Nevus Syndrome Workup

Updated: Jan 24, 2019
  • Author: Basil S Cherpelis, MD; Chief Editor: Dirk M Elston, MD  more...
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Workup

Laboratory Studies

The following laboratory studies might be warranted:

  • Fecal occult blood test: Screen for occult blood loss from GI blue rubber bleb nevus syndrome (BRBNS) lesions.

  • CBC count: Screen for iron deficiency anemia.

  • Urinalysis: Hematuria may be caused by lesions in the bladder.

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Imaging Studies

Radiographic imaging of suspected bone and joint involvement can be useful in identifying fractures, bony overgrowth, and articular abnormalities. Radiographic images in blue rubber bleb nevus syndrome (BRBNS) may be useful in suspected bone or joint involvement to detect fractures, bony overgrowth, and articular derangement. Radiographic contrast techniques may detect GI lesions, but endoscopy is considered to be superior.

MRI has been described as a useful tool for detecting extracutaneous lesions and for screening asymptomatic family members. [23]

Technetium Tc-99m–labeled red blood cell imaging may be helpful to localize or delineate the extent of bleeding in patients with blue rubber bleb nevus syndrome. [24]

CT scans can be useful to assess for underlying complications such as volvulus, intussusception, infarction, and GI bleeding. [2]

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Procedures

Endoscopy may be warranted in blue rubber bleb nevus syndrome (BRBNS). GI lesions may be demonstrated by endoscopic examination or by radiographic contrast techniques. Upper GI endoscopy is more sensitive than an upper GI series and colonoscopy more useful than a barium enema. Endoscopy also provides the opportunity to treat and diagnose the lesions. [25, 26]

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Histologic Findings

Histopathologic examination of skin blue rubber bleb nevus syndrome (BRBNS) lesions reveals vascular tissue with tortuous, blood-filled ectatic vessels, lined by a single layer of endothelium, with surrounding thin connective tissue. Dystrophic calcification may be present. See the image below.

Histopathology reveals blood-filled vessels, compo Histopathology reveals blood-filled vessels, composed of single layers of endothelium, surrounded by connective tissue.
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