Chapter 16 - Blue bleb rubber nevus syndrome

Abstract

Vascular malformations are errors of development of vessels that occur during embryogenesis. They are rheologically divided into slow-flow (capillary, lymphatic, venous and combined) and fast-flow (arterial, arteriovenous, and combined) malformations. These congenital lesions grow proportionally with the patient and never spontaneously regress. Venous malformations (VM) are composed of ectatic venous-like channels. They are mainly sporadic but can be inherited as an autosomal pattern. Any tissue and organ can be affected. They can be isolated or part of syndromes. Blue rubber bleb naevus syndrome is characterized by multifocal rubbery cutaneous venous malformations, especially on palm and sole, that are associated with multiple gastrointestinal VM. Localized intravascular coagulopathy, with high D-dimer level and normal-to-low fibrinogen level, is commonly seen. As cerebral VM can also occur in this syndrome, brain MRI should be part of the screening of patients affected with BRBN. Management is often multidisciplinary and can include medical, interventional radiological and/or surgical treatment.