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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.
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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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