Blue rubber bleb nevus syndrome physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

The presence of skin lesions on physical examination is highly suggestive of blue rubber bleb nevus syndrome.

Physical examination of patients with blue rubber bleb nevus syndrome is usually remarkable for cutaneous manifestations.^[1]

• Patients with blue rubber bleb nevus syndrome usually appear normal.

• Tachycardia with regular pulse.

• Skin lesions in patients with blue rubber bleb nevus syndrome classified into:^[2]
  • Cutaneous and
  • Extracutaneous manifestations

• The skin lesions are usually multifocal venous malformations which are dark blue in colour^[3][4]
• These lesions vary from millimeters to centimeters in size and diameter
• Venous malformations number range from few to hundreds
• Skin lesions have been categorised into 3 types^[5]
  • Type 1: Blue, rubbery, blood-filled sacs
  • Type 2: Large, disfiguring, cavernous lesions
  • Type 3: Blue, irregular macules

• Apart from skin the most commonly organ that is involved in patients with blue rubber bleb nevus syndrome is GI tract^[6]
• In GI tract the most commonly involved region is small intestine^[7]
• The venous malformations in GI tract are prone to bleeding^[8][9]
• The bleeding of the venous malformations in GI tract may leads to iron deficiency anemia^[10][11]
• In severe cases the bleeding might even leads to death^[12]

• Cardiovascular examination of patients with blue rubber bleb nevus syndrome is usually normal.

• Blue rubber bleb nevus is positive in area like:^[13]
  • Skull
  • CNS
  • Musculoskeletal system

• Pulmonary hypertension is due thromboembolic events is noticed in some patients with blue rubber bleb nevus syndrome.

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