Blue-Rubber Bleb Nevus Syndrome

 

Blue rubber bleb nevus syndrome (BRBNS) is characterized by multiple cutaneous venous malformations in association with internal venous malformations (most commonly affecting the bowel). Overall, this is a rare condition. Most cases are sporadic. Some patients may have severe bleeding (bowel), while most bleeding from the GI tract is slow, minor, chronic, and occult, resulting in iron deficiency anemia.

                    

1st image is a photo showing a typical skin lesion in a patient with blue rubber bleb nevus syndrome. 2nd image is a radiograph obtained during iodinated contrast material injection into one of the abdominal venous malformations in a patient diagnosed with blue rubber bleb nevus syndrome.

Cutaneous lesions are often apparent at birth or manifest in early childhood. Skin lesions are usually highly characteristic, as multiple, protuberant, dark blue, compressible blebs, a few millimeters to several centimeters in diameter and varied in hue and shape, most of which are asymptomatic but some may be spontaneously painful or tender to palpation. Skin lesions rarely bleed unless traumatized. Progression in size and number of blebs may occur with advancing age.

1st image is a T2 weighted MR image demonstrating multiple small venous malformation lesions (bright lesions). 2nd image (T2 weighted MR image) shows multiple small scalp lesions, consistent with small venous malformation lesions in a patient with BRBNS.

GI system involvement usually becomes evident during early adulthood. Venous malformations may occur anywhere from oral to anal mucosa but predominantly occur in the small bowel. In contrast to the skin lesions, the GI lesions often bleed. Blue rubber bleb nevi have been also 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. Orthopedic manifestations include skeletal bowing, pathologic fractures, bony overgrowth, and articular derangement.

Management: Screening for occult blood loss from GI system, screening for iron deficiency anemia may be needed. X-rays have a limited role in this condition. Endoscopic evaluation of the GI system is probably the ideal modality to rule our GI system venous malformations. MRI and nuclear scan have also been used in some patients. No specific treatment is needed for skin lesions in most patients. Laser has been used in some patients. Bleeding from GI lesions is the major concern in these patients. GI bleeding is usually managed conservatively with iron supplementation and blood transfusions when necessary. Endoscopic sclerotherapy and/or laser can be effective in selected patients. A surgical approach can also be used in some patients (recurrences may occur after excision). The prognosis depends on the extent of visceral organ involvement. Most patients have a normal life span.

 
 

            

 

 

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1st image is a T2 weighted MR image showing a few tiny liver and gastrointestinal bright lesions, consistent with small venous malformations. 2nd image is a radiograph (X-ray) showing destructive bone changes and soft tissue abnormalities representing soft tissue venous malformations in the forearm.

 

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