A 19-Year-old Female with Blue Rubber Bleb Nevus Syndrome

Abstract

A case of a blue rubber bleb nevus syndrome in a 19-year-old female patient with multiple cutaneous and gastrointestinal hemangiomata is described. Recurrent GI bleeding resulted in severe chronic anemia, which was successfully treated by endoscopic laser photocoagulation and surgical resection. Both forms of therapy had to be repeated 4 years later, the patient having been well in the meantime. This combined endoscopic and surgical approach might also improve the survival of patients with severe GI hemorrhage due to blue rubber bleb nevus syndrome.

Blue rubber-bleb nevus syndrome

“…3,6,14,17,19,22 Combining endoscopic photocoagulation with resection and enterotomy may prove valuable. 2 Our case suggests that bowel lesions continue to arise, so patients require follow-up with barium studies and endoscopy when anemia becomes refractory to iron therapy. 17 Some authors 18,19,29 advocate laser surgery or excision of cosmetically compromising skin lesions, but patients should be warned of the possibility of bleeding or recurrence.…”

“…1 The components of Bean's definition included hemangiomas of the skin and gastrointestinal tract, and gastrointestinal bleeding leading to anemia. 1,2,[4][5][6] Genetically, the syndrome is most likely of a sporadic nature;…”

“…All races are affected, and the sex distribution is equal. 2,3,6,[9][10][11] In addition to the soft, blue, compressible masses, the skin lesions may also be large cavernous hemangiomas or blue-black macules or papules 1,3,12,13 and may number from one to hundreds.…”

“…2,3,9,[16][17][18] Lesions may be found anywhere and can be associated with hyperhidrosis and pain 3,6,19,20 but rarely bleed 9,17 and are not known to undergo malignant change. 3,17,19 Gastrointestinal lesions are found from mouth to anus 10,11,18 and are thought to be most common in the small intestine.…”

Blue rubber bleb nevus syndrome

“…14 They appear at birth or in childhood 15 and increase in size and number with age. 2,3,9,[16][17][18] Lesions may be found anywhere and can be associated with hyperhidrosis and pain 3,6,19,20 but rarely bleed 9,17 and are not known to undergo malignant change. 3,17,19 Gastrointestinal lesions are found from mouth to anus 10,11,18 and are thought to be most common in the small intestine.…”