Acknowledgement of Blue Rubber Bleb Nevus Syndrome has not been added yet.

BRBNS is extremely rare, with fewer than 300 reported cases worldwide. It affects both males and females and can occur in various ethnic groups. Because of its rarity and variable presentation, it is often misdiagnosed or underdiagnosed.

 

Name	Abbreviation
Bean Syndrome
Multiple venous malformation syndrome

The exact cause of BRBNS is not fully understood, but it is believed to result from somatic (cells not related to reproduction) or inherited mutations affecting vascular development. In some cases, mutations in the TEK (TIE2) gene, which is involved in blood vessel formation, have been implicated. This gene encodes the receptor tyrosine kinase (TEK) protein that lines epithelial cells along the inside of blood vessels and signals for the new formation of blood vessels. While most cases are sporadic, some individuals inherit the condition in an autosomal dominant manner (see Rareshare Guide on Genetic Inheritance).

 

The symptoms of BRBNS vary depending on the number, size, and location of venous malformations. BRBNS is present from birth and often results in larger and more frequent blebs forming as the child ages. Common features include:

• Cutaneous (Skin) Lesions: Soft, blue-purple vascular lesions that appear as rubbery nodules, most commonly on the trunk, limbs, and soles of the feet. They may be painless but can become tender or rupture.

• Gastrointestinal (GI) Bleeding: Venous malformations in the digestive tract can cause chronic bleeding, leading to anemia, bloody stools, and iron deficiency. Severe cases may result in life-threatening hemorrhage.

• Iron-Deficiency Anemia: Due to chronic blood loss from GI lesions. Symptoms include fatigue, pallor, and shortness of breath.

• Pain and Swelling: Venous malformations can cause local discomfort, especially in deep-seated lesions.

• Complications: In rare cases, lesions may develop in the brain, liver, or other organs, potentially leading to additional complications such as neurological symptoms.

BRBNS is diagnosed based on clinical evaluation, imaging studies, and sometimes genetic testing. The presence of characteristic skin and gastrointestinal lesions strongly suggests the condition.

 

• Physical Examination: Identifies the presence of characteristic skin lesions.

• Endoscopy and Colonoscopy: Detects and assesses vascular malformations in the gastrointestinal tract.

• Magnetic Resonance Imaging (MRI): Evaluates the extent of venous malformations in deeper tissues and organs.

• Capsule Endoscopy: Used to examine the small intestine when standard endoscopy is insufficient.

• Blood Tests: Monitors hemoglobin levels and detects iron-deficiency anemia.

• Genetic Testing: some cases of BRBNS are linked to mutations in the TEK/TIEN gene

There is no cure for BRBNS, and treatment focuses on managing symptoms and preventing complications:

• Iron and Blood Transfusions: To treat anemia caused by chronic bleeding.

• Endoscopic Therapy: Cauterization, laser therapy, or sclerotherapy may be used to control bleeding from GI lesions.

• Surgical Resection: In severe cases, affected sections of the gastrointestinal tract may be removed to prevent life-threatening hemorrhage.

• Compression Therapy: For symptomatic skin lesions to reduce pain and swelling.

• Medications: Some studies suggest sirolimus, an mTOR inhibitor, may help reduce the growth and activity of venous malformations.

The prognosis for individuals with BRBNS varies based on the severity of symptoms and complications. While the condition is not typically life-threatening, chronic anemia and recurrent gastrointestinal bleeding can significantly impact quality of life. With proper medical management, many individuals can live relatively normal lives, though ongoing monitoring and treatment are often required. In cases with extensive organ involvement, the risk of severe complications is higher, necessitating more aggressive treatment strategies.

Tips or Suggestions of Blue Rubber Bleb Nevus Syndrome has not been added yet.

1. John’s Hopkins Medicine - Blue Rubber Bleb

2. NIH - Blue Rubber Bleb Nevus

3. Boston Children’s - Blue Rubber Bleb Nevus Syndrome

4. Medline Plus - TEK gene