Blue Rubber Bleb Nevus Syndrome
Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of groups of abnormally developed blood vessels called vascular malformations. These vascular malformations can affect the skin, soft tissue and internal organs of the body. The first reported case with a description of the disorder was documented by G. Gascoyen in 1860. In 1958, W. Bean named the characteristic vessels “blue rubber bleb” nevi (BRBN) after their color, texture, and bladder-like appearance.
These blue rubbery angiomas are present for a person’s entire life. They are often present at birth but new ones may appear with age. They are often first noted on the skin. They can also be found in many internal organs like the liver, spleen, lungs, and the intestines. The abnormal blood vessels in the intestines have a tendency to bleed. The bleeding may be slow but in many cases there is rapid blood loss noted in the feces of the patient.
Although this disease was first named in 1958 additional cases of BRBNS have only been sporadically reported. There are some cases that have shown an autosomal dominant inheritance pattern.
The venous malformations of BRBNS are usually diagnosed after birth, they will grow in size and number as the child ages. The skin lesions vary in size and depth with some extending deep in to the tissue, muscles and joints. Typical skin lesions appear as small blue spots (1-3cm). They are covered by skin and may feel hard or rubbery. They many be painful. Most of the lesions are found on the limbs, trunk, perineum and soles of the feet although they can be found anywhere on the body. These lesions can be easily identified by visual inspection of the body. Sonography and MR Imaging may be used to assess large and deep skin lesions. Doppler images can confirm the blood flow of the malformations.
The malformations of BRBNS may cause skeletal abnormalities. Malformations that extend into the muscles can affect the shape of an adjacent bone by causing pressure on the bone resulting in a deformity. Other lesions may affect the biomechanics of a joint, damage cartilage or cause hemarthrosis. Patients are at risk of limb over-growth, limb undergrowth, abnormal bowing or other remodeling of the bone structure. These findings can be observed by radiographic study.
All patients with BRBNS have gastrointestinal involvement. Venous Malformations are most often found in the small bowel but may be found through out the GI tract from mouth to anus. The lesions of the GI tract have a high incidence of bleeding. BRBNS has a significant incidence of anemia due to chronic GI Bleeding; patients require treatment with iron and blood-transfusions often for their entire lives. The GI bleeding associated with BRBNS may occur at a very young age and continue through out life. Iron and blood- transfusions are treatments that can help people with the disorder, but they are not a cure. CT Images, and MRI are often used to diagnose lesions in the GI tract
The skin and the GI tract are the two most common sites of involvement of RBBNS but the venous malformations may occur anywhere in the body.
There have been a variety of therapeutic strategies proposed for the management of BRBNS. These method have included antiagniogentic drugs, endoscopic laser, scelerotherapy and or surgery. Historically surgical removal of the malformations has been controversial in the medical community because it was thought that the malformations would recur after resection. In 2005 the Vascular Anomaly Center at Children’s Hospital of Boston published an aggressive surgical approach to treat the GI venous malformations of BRBNS believing that eradicated lesions would not recur. Ten patients were treated from 1993-2002. They undertook the removal of all the GI tract lesions in an effort to eliminate bleeding. The lesions were identified using complete GI endoscopy. Multiple venous malformations were removed by a combination of the wedge resection, polypectomy, suture ligation, segmental bowel resection and band ligation. A mean of 137 focal GI venous malformations per patient were resected. The patients were followed over the next 3-10 years. There are currently 20 other patients being followed. The physicians involved in this study report that serious chronic bleeding from GI venous malformations of BRBNS can be successfully controlled by aggressive resection of the VM regardless of their number or location. Medications have been shown to not benefit the patient. The aggressive operative approach can help avoid the serious complications of chronic anemia, fatigue, iron overload and the risks of blood transfusions.
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Ramirez M, Lopex Gutierrez JC, DiazM, Soto C, MiquelM, de la Torre Ramos CA, Barrena S, ros Z, Tovar JA, Bean or BRBNS: Presentaiton of 6 patients, Cir Pediatric 2010 Oct;23(4):241-4
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NOVA provides this information as a resource. It is not intended to engage in the practice of medicine or to replace the physician. NOVA does not claim to have medical knowledge. NOVA does not endorse any particular physician, treating facility or treatment protocol. In all cases NOVA, the NOVA Board of Directors and associates recommends that you seek the opinion of a physician experienced in the diagnosis and treatment of hemangioma and vascular malformations