Introduction

Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal syndrome of cutaneous and systemic venous malformations. Reports of BRBNS are primarily case studies describing treatment of the vascular lesions in one or two patients or a dramatic complication. While the vascular lesions of BRBNS are often characterized in the literature as hemangiomas, the biological behavior and histology of these lesions are most compatible with venous malformations (Mulliken & Glowacki, 1982). Bleeding from venous malformations in the gastrointestinal tract, particularly in the small bowel, may lead to iron deficiency anemia. Gastrointestinal bleeding is the primary morbidity associated with BRBNS, but lesions of the brain and spinal cord occur.

In 1860, Gascolyen probably reported the first case of BRBNS in a 44-year-old man with cutaneous and gastrointestinal vascular lesions, causing gastrointestinal bleeding. In 1958, Bean described two individuals with BRBNS and reviewed the features of six others; he also coined the name blue rubber bleb nevus (Bean, 1958). The syndrome is quite rare with fewer than 150 reported patients in the literature, but its precise incidence is unknown.

Clinical features

Blue rubber bleb nevus syndrome is characterized by the typical blue–black blebs involving both the skin (Fig. 19.1) and internal organs, especially the gastrointestinal tract (Fig. 19.2). Characteristics of the cutaneous and gastrointestinal venous malformations of BRBNS are summarized in Tables 19.1 and 19.2.