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== Screening ==
== Screening ==
There is insufficient evidence to recommend routine screening for [[blue rubber bleb nevus syndrome]].


== Natural History, Complications, and Prognosis ==
== Natural History, Complications, and Prognosis ==
Common [[complications]] of [[blue rubber bleb nevus syndrome]] include [[Gastrointestinal bleeding|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 ==
== Diagnosis ==

Revision as of 13:52, 25 January 2019

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

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Natural History, Complications and Prognosis

Diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

References

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