Excerpt from Blue Rubber Bleb Nevus Syndrome

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Background

Blue rubber bleb nevus syndrome (BRBNS) is a syndrome characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the GI tract. In 1860, Gascoyen first described an association between cavernous hemangiomas of the skin and similar lesions in the GI tract. In 1958, Bean further described these lesions and coined the term blue rubber bleb nevus syndrome. BRBNS is an important syndrome because of its potential for serious or fatal bleeding.

Pathophysiology

The cutaneous and GI systems most frequently are involved with multiple vascular blebs or nodules. However, case reports have demonstrated that the central nervous system, thyroid, parotid, eyes, oral cavity, musculoskeletal, oral cavity, lungs, kidney, liver, spleen, and bladder also may be affected.

Histopathologic examination of lesions reveals blood-filled ectatic vessels, lined by a single layer of endothelial cells, with surrounding thin connective tissue.

Frequency

International

BRBNS is a rare disorder with only approximately 150 cases reported in the world's literature. Most cases are sporadic, but autosomal dominant inheritance has been reported.

Mortality/Morbidity

The mortality and morbidity associated with BRBNS depends on the extent of visceral organ involvement. Most patients have a normal life span with cosmesis being the major concern. No malignant transformation of cutaneous or visceral lesions has been reported. Some patients may have severe hemorrhage from the GI tract, which can be fatal. Serial transfusions and periodic surveillance can modify the morbidity of the disease. Lesions involving bones and joints can cause profound discomfort and loss of function, requiring amputations in some cases. Rarely, central nervous system involvement can be fatal.¹

Race

The syndrome has been reported in persons of all races,² although whites appear to be most frequently affected.

Sex

The disease affects males and females equally.

Age

Cutaneous lesions are often apparent at birth or manifest in early childhood, but late onset, beyond midlife, has been reported. GI involvement usually becomes evident during early adulthood.

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