Blue rubber bleb nevus syndrome is a rare disorder consisting of multiple venous system malformations predominantly involving the skin, musculoskeletal system, and gastrointestinal tract. Lesions may involve any tissue and have a potential for severe bleeding and death.
The name blue rubber bleb nevus syndrome is derived from the rubber-like consistency on palpation of the cutaneous lesions. They present as dark blue compressible papules that may or may not be painful  and measure from millimeters to centimeters in diameter. These cutaneous nevi do not bleed spontaneously but are fragile and may be flat, elevated or pedunculated.
Patients have nonspecific complaints like asthenia caused by chronic hemorrhage due to acute blood loss following hematemesis, rectal bleeding or melena, hemoptysis, hematuria, epistaxis or nasal bleeding  or signs of hemothorax or hemopericardium. Occipital lobe bleeding associated with blue rubber nevus syndrome has been described, leading to blindness . Similar lesions may be encountered in any  type of tissue: glandular, muscular, genital, bone, heart, lung, renal, pericardium and peritoneum  .
Nevi are usually present and diagnosed at birth and have a natural tendency to grow and multiply or even invade neighboring structures as the child grows older, but malignant transformation has not been reported yet. Nevi located close to bones may cause bowing deformity, while those in the neighborhood of joints may lead to hemarthrosis and affect joint mechanics. Their histological nature, consisting of dysplastic veins with abnormal walls may cause consumption coagulopathy that exacerbates blood loss.
Clinical examination may reveal signs of chronic or acute posthemorrhagic anemia or of other complications like volvulus, bowel infarction or intussusception. Mobility may be impaired due to the extension of the lesion inside the joint  or due to spinal cord compression . Patients may exhibit dyspnea caused by severe anemia or recurrent thromboembolism and pulmonary hypertension  or cyanosis induced by pulmonary stenosis .
Workup should include a complete blood count, serum iron levels, a stool sample for occult blood and a urine sample that may detect hematuria.
Skeletal and articular involvement is diagnosed using simple X-rays and may include focal lytic defects or cortical remodeling . The extent of gastrointestinal lesions is best evaluated using superior digestive endoscopy or colonoscopy, while magnetic resonance imaging , computer tomography  and Technetium-99 scintigraphy  detect extracutaneous lesions and bleeding. Magnetic resonance imaging is especially useful in diagnosing liver, spleen and pancreatic lesions, while capsule endoscopy is emerging as an alternative to evaluate gastrointestinal nevi . This is particularly useful since barium studies, the cheaper and more widely accessible alternative only shows polypoid structures and is unable to differentiate between polyps and nevi, creating confusion.
Visceral angiography is not usually indicated, unless performed for other reasons in the same area, despite the fact that it might offer valuable information during the venous phase.
If the extent of the disease is not easily appreciated using noninvasive measures, an exploratory laparoscopy should be performed, especially since this could limit the area of the small bowel to be resected.