Bone deformities may arise as a result of pressure effects from adjacent vascular lesions. Vertebral lesions have caused spinal cord compression and vertebral collapse, and the lesions may extend into joint spaces affecting range of motion. Extensive lesions also have been reported on the feet, impairing ambulation. Debilitating enlargement occasionally requires amputation of the affected limb. Blue rubber bleb nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, oral cavity, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder.
Most cases are sporadic, but autosomal dominance has been reported.
The disorder has not been localized to a specific chromosome or gene defect. Screen for occult blood loss from GI BRBN lesions. Screen for iron deficiency anemia. Hematuria may be caused by lesions in the bladder. Radiographic images may be useful in suspected bone or joint involvement to detect fractures, bony overgrowth, and articular derangement.