Blue rubber bleb nevus syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

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) .

Blue rubber bleb nevus syndrome (BRBNS) was first discovered by Gascoyen, in 1860.

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.

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.

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.

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.  

There are no established risk factors for Blue Rubber Bleb Nevus Syndrome.

There is insufficient evidence to recommend routine screening for blue rubber bleb nevus syndrome.

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.

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

The majority of patients with blue rubber bleb nevus syndrome present with symptoms typically at birth like blisters on the skin, bleeding and anemia.

The presence of skin lesions on physical examination is highly suggestive of blue rubber bleb nevus syndrome.

Laboratory findings consistent with the diagnosis of blue rubber bleb nevus syndrome include fecal occult blood test, CBC and urinalysis

There are no ECG findings associated with blue rubber bleb nevus syndrome.

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

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.

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 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.

There are no other imaging findings associated with blue rubber bleb nevus syndrome.

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

The mainstay of treatment for blue rubber bleb nevus syndrome is interferon-beta, octreotide, iron supplementation and blood transfusions.

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

There are no established measures for the primary prevention of blue rubber bleb nevus syndrome.

There are no established measures for the secondary Prevention of blue rubber bleb nevus syndrome.

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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]

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) .

• Blue rubber bleb nevus syndrome (BRBNS) was first discovered by Gascoyen, in 1860.^[1][2]
• The term Blue rubber bleb nevus syndrome (BRBNS) was given by William Bennet Bean, in 1958.^[3]

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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]

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.

• The exact pathogenesis of blue rubber bleb nevus syndrome is not completely understood.
• It is understood that blue rubber bleb nevus syndrome is the result of gene mutation.

• Blue rubber bleb nevus syndrome is transmitted in autosomal dominant pattern.^[1]
• Blue rubber bleb nevus syndrome is also transmitted in sporadically pattern sometimes.
• It is understood that Blue rubber bleb nevus syndrome is caused by gene mutation in the short arm of chromosome 9.^[2]
• The gene mutation in the short arm of chromosome 9 results in the development of venous malformations.

• On gross pathology, multiple venous malformations and hemangiomas are characteristic findings of blue rubber bleb nevus syndrome.^[3]

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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]

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.

• Blue rubber bleb nevus syndrome is caused by a gene mutation in the short arm of chromosome 9 gene.^[1]
• According to the recent studies blue rubber bleb nevus syndrome may be caused by somatic mutations in TEK, the gene encoding TIE2.^[2][3][4]
• Blue rubber bleb nevus syndrome follows autosomal dominant pattern of inheritance.^[5]

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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]

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.

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.

Disease	Symptoms	Physical examination	Lab Findings
Kaposi sarcoma[1][2]	Fever[3] Night sweats Weight loss Cough and Hemoptysis	Red or violaceous macules and patches over the legs, nose, and feet Nodules or plaques The color of the lesions may change into blue, purple, or brown as the disease progress	CD4+ T-lymphocyte count[4] Decreased hemoglobin level Antibodies against KSHV CD34, HHV-8, and D2-40 positive Fecal occult blood test Helper/suppressor ratio (T4/T8) Measuring serum beta-2-microglobulin Measuring serum acid labile alfa interferon
Diffuse neonatal hemangiomatosis (DNH)[5][6]	Difficulty in walking Haemorrhages	Presence of venous malformations in Leptomeninges Eyes Respiratory tract, and GI tract Mucosal surfaces Positive enchondromas Shortened or unequal length limbs in the patients with Diffuse Neonatal Hemangiomatosis	Radiologic evaluation is very important in the follow of Diffuse Neonatal Hemangiomatosis which shows the following Destruction of cortex Endosteal cortical erosion Zones of lucency
Familial glomangiomatosis[7]	Painful cutaneous lesions	Lesions that:[8] looks like plaque looks like cobblestone Hyperkeratotic, dark blue or purple lesions	Biopsy shows the following:[9] Undifferentiated smooth muscle cells surrounding convoluted venous channels
Klippel-Trenaunay-Weber syndrome[10][11]	Pain Fatigability Bleeding	Positive port-wine stain Multiple hemangiomas Cutaneous vascular malformation and skin are positive Limb hypertrophy[12] Venous abnormalities	Thrombocytopenia Ultrasonography shows Arteriovenous malformations Cardiac enlargement
Maffucci syndrome[13][14]	Venous vascular malformations Multiple enchondromas[15]	Nodules that are in red/brown or bluish in colour Severe disfigurement of the affected body parts	Spindle cell hemangiomas Phleboliths

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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]

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.

• The incidence of blue rubber bleb nevus syndrome is unknown yet.

• The prevalence of blue rubber bleb nevus syndrome is also unknown as for now.

• Blue rubber bleb nevus syndrome (BRBNS) commonly affects individuals at birth or early childhood.^[1]
• Visceral organ involvement in blue rubber bleb nevus syndrome is more evident around early adulthood.^[2]

• There is no racial predilection to blue rubber bleb nevus syndrome, it tend to occur in all races.^[3]
• Among all races whites appear to be most commonly affected with blue rubber bleb nevus syndrome.

• Blue rubber bleb nevus syndrome (BRBNS) affects men and women equally.

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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]

There are no established risk factors for Blue Rubber Bleb Nevus Syndrome.

There are no established risk factors for Blue Rubber Bleb Nevus Syndrome.

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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]

Common complications of blue rubber bleb nevus syndrome include GI bleeding, Intussusception, and Intestinal perforation.

• The symptoms of blue rubber bleb nevus syndrome usually develop in the first decade of life, and start with symptoms such as ^[1]
  • Skin spots (nevi)
  • Bleeding
  • Increased sweating around the areas of lesions

Common complications of blue rubber bleb nevus syndrome include:^[2][3][4][5]

• Acute GI bleeding^[6]

• Anemia due to bleeding^[7]
• Intussusception
• Bowel infarction
• Intestinal torsion
• Necrosis of intestinal mucosa
• Intestinal perforation
• Volvulus
• Stroke
• Abscess formation and
• Even death due to central nervous system involvement.^[8]

• Depending on the extent of the blue rubber bleb nevus syndrome at the time of diagnosis, the prognosis may vary.

• Prognosis of the blue rubber bleb nevus syndrome is depend on the following:^[9][10]
  • Severity of the signs and symptoms at the time of diagnosis
  • Vascular malformations size and number
  • Vascular malformations locations
• Overall, prognosis is good and patients with blue rubber bleb nevus syndrome have normal lifespan if it diagnosed intime.^[11]

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