Blue rubber bleb nevus syndrome overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Blue rubber bleb nevus syndrome which is also known as BRBNS is a rare congenital vascular anomaly in which blood vessels do not develop normally especially in the gastrointestinal area. BRBNS shows characteristic blebs that are fluid-filled blisters as visible and well rounded lesions (nevus) .
Historical Perspective
Blue rubber bleb nevus syndrome (BRBNS) was first discovered by Gascoyen, in 1860.
Pathophysiology
The exact pathogenesis of blue rubber bleb nevus syndrome is not fully understood.It is thought that blue rubber bleb nevus syndrome is caused by gene mutation.
Causes
The exact cause of blue rubber bleb nevus syndrome has not been identified yet. But recent studies shows that blue rubber bleb nevus syndrome may be caused by gene mutations.
Differentiating Blue rubber bleb nevus syndrome from Other Diseases
Blue rubber bleb nevus syndrome must be differentiated from dermatologic manifestations of kaposi Sarcoma, diffuse neonatal hemangiomatosis, familial glomangiomatosis, genetics of klippel-trenaunay-weber syndrome, maffucci syndrome and mucosal venous malformation syndrome.
Epidemiology and Demographics
Blue rubber bleb nevus syndrome (BRBNS) is is a rare disease which affects gastrointestinal blood vessels and skin blood vessels. The exact cause of blue rubber bleb nevus syndrome is unknown. About 200 cases of blue rubber bleb nevus syndrome have been reported worldwide.
Risk Factors
There are no established risk factors for Blue Rubber Bleb Nevus Syndrome.
Screening
There is insufficient evidence to recommend routine screening for blue rubber bleb nevus syndrome.
Natural History, Complications, and Prognosis
Common complications of blue rubber bleb nevus syndrome include GI bleeding, Intussusception, and Intestinal perforation.Depending on the extent of the blue rubber bleb nevus syndrome at the time of diagnosis, the prognosis may vary.
Diagnosis
Diagnostic Study of Choice
History and Symptoms
The majority of patients with blue rubber bleb nevus syndrome present with symptoms typically at birth like blisters on the skin, bleeding and anemia.
Physical Examination
The presence of skin lesions on physical examination is highly suggestive of blue rubber bleb nevus syndrome.
Laboratory Findings
Laboratory findings consistent with the diagnosis of blue rubber bleb nevus syndrome include fecal occult blood test, CBC and urinalysis
Electrocardiogram
There are no ECG findings associated with blue rubber bleb nevus syndrome
X-ray
Echocardiography and Ultrasound
Endoscopic ultrasonography (EUS) may be helpful in the diagnosis of blue rubber bleb nevus syndrome. Findings on an EUS suggestive of blue rubber bleb nevus syndrome include hypoechoic lesions and gastric vascular malformations.
CT scan
Abdominal CT scan may be helpful in the diagnosis of blue rubber bleb nevus syndrome. Findings on CT scan suggestive of blue rubber bleb nevus syndrome include volvulus, intussusception, infarction, and GI bleeding.
MRI
MRI may be helpful in the diagnosis of blue rubber bleb nevus syndrome. Findings on MRI suggestive of blue rubber bleb nevus syndrome include detecting extracutaneous lesions etc.
Other Imaging Findings
There are no other imaging findings associated with blue rubber bleb nevus syndrome.
Other Diagnostic Studies
Technetium Tc-99m may be helpful in the diagnosis of blue rubber bleb nevus syndrome. Findings suggestive of blue rubber bleb nevus syndrome include it gives extent of bleeding in GI tract
Treatment
Medical Therapy
The mainstay of treatment for blue rubber bleb nevus syndrome is interferon-beta, octreotide, iron supplementation and blood transfusions.
Surgery
Surgery is not the first-line treatment option for patients with blue rubber bleb nevus syndrome (BRBNS). Surgery is usually reserved for patients with either repeated or severe bleeding or cosmetic purposes
Primary Prevention
There are no established measures for the primary prevention of blue rubber bleb nevus syndrome.
Secondary Prevention
There are no established measures for the secondary Prevention of blue rubber bleb nevus syndrome.