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. 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.
Most cases are sporadic, but autosomal dominant inheritance has been reported.
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.