Blue rubber bleb nevus
Overview
Blue rubber bleb nevus syndrome (or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus", or "Bean syndrome") is a rare disorder that consists mainly of abnormal blood vessels affecting the gastrointestinal tract.
Symptoms
Most lesions are asymptomatic but some may be spontaneously painful or tender to palpation. Patients may note increased sweating on the skin overlying the lesion. Physical complaints or symptoms vary depending on the organ system involved Patients may report fatigue from occult blood loss. Hematemesis, melena or frank rectal bleeding may prompt emergent presentations. When bone is involved, there may be complaints of joint pain or impaired ambulation. Extracutaneous lesions also may result in epistaxis, hemoptysis, hematuria, or menorrhagia. Patients may present with blindness due to cerebral or cerebellar cavernomas that may hemorrhage into the occipital lobes.
Causes
The causes of this syndrome are unknown. Not more than a few hundred cases have been described worldwide. Most cases of blue rubber bleb nevus syndrome are sporadic but families have been described in which the condition follows autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
Diagnosis
Chest CT showed bilateral axillary soft-tissue masses with a lobulated, "frond-like" appearance. There were similar soft-tissue densities in the aortopulmonary window and left paratracheal region measuring 2 cm and x cm, respectively. Multiple small pulmonary nodules (2 to 15 mm in size) were detected in association with distal pulmonary vessels or abutting the pleura. A chest CT scan without contrast reveals multiple nodular opacities in the lung parenchyma. Some of these nodules abut the pleura and are associated with pulmonary vessels.
Treatment
Given that there is no currently available pharmacologic agent to effectively treat the GI bleeding and the likelihood that resected venous malformations would not recur, we undertook a strategy of aggressive removal of all the gastrointestinal lesions of BRBNS. If the rationale were sound, all lesions identified, and technical success possible, we believed that the bleeding could be permanently controlled.