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Blue Rubber Bleb Nevus Syndrome

Blue Rubber Bleb Nevus Syndrome

A 61-year-old woman who had hypertension and diabetes presented to the gastroenterology clinic with profound fatigue and malaise of about 6 months’ duration. She denied any chest pain, shortness of breath, hematochezia, melena, hematemesis, or constitutional symptoms. The patient reported no new prescriptions, over-the-counter medications, or herbal supplements. She said that a screening colonoscopy 10 years earlier had been “normal.”
   
Blue rubber bleb nevus Physical examination revealed several palpable vascular lesions that were smaller than 1 cm on her right lower extremity; the rest of the physical findings were normal. Initial laboratory evaluation showed a profound anemia (hemoglobin, 7 g/dL; hematocrit, 23%), and iron studies suggested iron deficiency. Results of a hematology evaluation with a bone marrow biopsy were consistent with iron deficiency anemia without atypical cellular features.
   
Esophagogastroduodenoscopy and colonoscopy results were normal. Duodenal biopsies revealed no evidence of celiac disease. She underwent capsule endoscopy, which showed multiple venous “pools” (Figure 1, left) throughout the small bowel from the distal duodenum extending to the distal ileum. These venous pools were associated with several small (< 5 mm) ulcerations without active bleeding (Figure 2, below). These abnormal findings prompted subsequent push enteroscopy with evaluation up to 150 cm from the pylorus. This study confirmed the findings noted on capsule endoscopy, which upon expert review were highly suggestive of blue rubber bleb nevus syndrome (BRBNS).
   
blue rubber bleb nevus She was referred to a dermatologist for evaluation of the palpable vascular skin lesions. Biopsy of these lesions confirmed the diagnosis of BRBNS. MRI arteriography/venography was performed to evaluate for additional vascular anomalies, and the results were normal. Enteral iron therapy was prescribed. At 6-month follow-up, her complete blood cell count was stable and she had no signs or symptoms of further gastrointestinal (GI) bleeding.

Discussion
BRBNS is a rare GI disorder characterized by distinctive cutaneous and GI venous malformations that can lead to occult or massive GI bleeding. Fewer than 200 cases have been reported in the medical literature. Gascoyen1 first described the association between cavernous hemangiomas on the skin and in the GI tract in 1860. Bean2 first coined the term BRBNS in 1958 when describing the classic cutaneous lesions. A familial origin is typically uncommon; however, an autosomal dominant inheritance has been reported with an association for chromosome arm.9 The mortality and morbidity associated with BRBNS are related to the extent of GI involvement, but there is no reported malignant potential.

Clinical features
The vascular malformations found in BRBNS range from telangiectases to cavernous hemangiomas and rarely arteriovenous fistulas.4 Clinically, it is characterized by numerous violaceous to dark blue soft papules and nodules that are compressible.5 The typically painless skin lesions are generally localized to the upper and lower extremities, whereas GI lesions can be found throughout the GI tract. Histopathologic examination of the lesions reveals dilated vascular spaces filled with a single layer of endothelial cells, surrounded by connective tissue.6
   
Patients with BRBNS are generally asymptomatic. If symptoms are present, they are typically related to the extent of organ system involvement. The most common clinical presentation is significant iron deficiency anemia. Symptoms that require more emergent evaluation include hematemesis, melena, and hematochezia. In rare cases, extracutaneous lesions can cause other bleeding, such as epistaxis and menorrhagia.

Treatment
There is no standard of care or systemic treatment regimen for BRBNS. Long-term subcutaneous octreotide therapy has been used to reduce GI bleeding associated with BRBNS.7 Other medical therapies include systemic corticosteroids and interferon alfa-2a to prevent bleeding or lessen its severity.8 Newer techniques that have been employed to control bleeding include argon plasma coagulation.9 Irrespective of the therapeutic modality used, regular follow-up and multiple treatments are required because GI mucosal hemangiomas recur throughout the patient’s lifetime.

References:

1. Gascoyen GG. Case of naevus involving the parotid gland and causing death by suffocation: naevi of viscera. Trans Pathol Soc Lond. 1860; 11:267.
2. Bean WB. Vascular Spiders and Related Lesions of the Skin. Springfield, IL: Charles C. Thomas; 1958: 178-185.
3. Gallione CJ, Pasyk KA, et al. A gene for familial venous malformation maps to chromosome 9p in a second large kindred. J Med Genet. 1995; 32(3):197-199.
4. Patel LM, Lambert PJ, et.al. Cutaneous signs of systemic disease. Clin Dermatol. 2011; 29(5):511-522.
5. Yuksekkaya H, Ozbek O, et al. Blue rubber bleb nevus syndrome: successful treatment with sirolimus. Pediatrics. 2012; 129(4):e1080-e1084. doi: 10.1542/peds.2010-3611.
6. Turk BG, Turkmen M, et al. Blue rubber bleb nevus syndrome: a case report with dermatoscopic features. Clin Exp Dermatol. 2011; 36(2): 211-213.
7. Gonzalez D, Elizondo BJ, et al. Chronic subcutaneous octreotide decreases gastrointestinal blood loss in blue rubber-bleb nevus syndrome. J Pediatr Gastroenterol Nutr. 2001; 33(2): 183-188.
8. Dwivedi M, Misra SP. Blue rubber bleb nevus syndrome causing upper GI hemorrhage: a novel management approach and review. Gastrointest Endosc. 2002; 55(7): 943-946.
9. Ng EKW, Cheung FKY, et al. Blue rubber bleb nevus syndrome: treatment of multiple gastrointestinal hemangiomas with argon plasma coagulator. Dig Endosc. 2009; 21(1): 40-42.

 

 
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