Blue Rubber Bleb Nevus Syndrome

  • Etiology: Sporadic syndrome involving multifocal venous anomalies with the skin and gastrointestinal tract being primary sites of involvement
  • Imaging: Multiple venous malformations in the bowel
  • DDX: Hereditary hemorrhagic telangiectasia, Maffucci syndrome, Klippel-Trenaunay syndrome
  • Complications: Lower gastrointestinal bleeding
  • Treatment:
  • Clinical: Multiple blue skin lesions (blueberry muffin syndrome)

Radiology Cases of Blue Rubber Bleb Nevus Syndrome

Tagged red blood cell nuclear medicine scan and angiogram of blue rubber bleb nevus syndrome
Nuclear medicine tagged red blood cell scan for GI bleeding shows AP and lateral images of the abdomen obtained immediately after the beginning of the exam (above top row) and 4 hours later (above bottom row). The images show immediate pooling of radiotracer in multiple discrete areas in the abdomen and pelvis with continued radiotracer accumulation in these areas over time. Arterial phase image from a superior mesenteric artery angiogram (below left) shows normal arterial vessels, while the venous phase (below right) shows contrast puddling in rounded spaces that filled in over time in the small bowel and ascending colon that were consistent with venous malformations.

Clinical Cases of Blue Rubber Bleb Nevus Syndrome

Clinical image of blue rubber bleb nevus syndrome
Clinical image shows black-blue subcutaneous nodules on the sole of the right foot, which were also present in multiple other areas on the patient’s body.

Surgical Cases of Blue Rubber Bleb Nevus Syndrome

Surgical image of blue rubber bleb nevus syndrome with lesion in the small bowel
Surgical image shows multiple venous malformations in the small intestine.
Surgical image of blue rubber bleb nevus syndrome with lesion in the small bowel
Surgical image close-up shows two venous malformations in the small intestine.

Gross Pathology Cases of Blue Rubber Bleb Nevus Syndrome

Gross pathology image of blue rubber bleb nevus syndrome of the small intestine
Gross pathological image shows the mucosal surface of a fragment of small intestine with two focal areas of ulceration which appear hemorrhagic.

Histopathology Cases of Blue Rubber Bleb Nevus Syndrome

Histopathological image of blue rubber bleb nevus syndrome
Histopathological image of an H&E stained section shows a lesion characterized by large, fibrous-walled vascular channels lined by a simple layer of endothelium and filled with blood (a cavernous hemangioma [vascular malformation]); these vessels extend into and erode the normal overlying small intestinal mucosa.