Blue rubber bleb nevus syndrome overview

Blue rubber bleb nevus syndrome Microchapters
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Overview
Historical Perspective
Pathophysiology
Causes
Differentiating Blue Rubber Bleb Nevus Syndrome from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
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Future or Investigational Therapies
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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

There are no other diagnostic studies associated with blue rubber bleb nevus syndrome.

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

There are no X-ray findings associated with blue rubber bleb nevus syndrome.

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.