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Information on Blue Rubber Bleb Nevus

Blue rubber bleb nevus syndrome (BRBNS) is characterized by multiple cutaneous venous malformations in association with internal venous malformations (most commonly affecting the bowel). Overall, this is a rare condition. Most cases are sporadic. Some patients may have severe bleeding (bowel), while most bleeding from the GI tract is slow, minor, chronic, and occult, resulting in iron deficiency anemia.

The blue rubber nevus syndrome describes a clinical entity that presents with cutaneous and visceral hemangiomas, particularly those found in the gastrointestinal tract. These lesions may appear at birth or in early childhood and can increase in size and frequency with age. Oral cavity hemangiomas occur in 59% to 64% of cases. Successful diagnosis requires a high index of suspicion, and treatment is symptomatic.

The blue rubber nevus syndrome consists of multiple venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may be involved. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. It is a condition that affects both sexes equally, and its occurrence is rare in the black race.

BRBNS is a rare congenital disorder presenting with multifocal venous malformations of the skin, soft tissues, and gastrointestinal (GI) tract. Patients with BRBNS develop anemia from chronic GI bleeding, and require lifelong treatment with iron and blood transfusions. An aggressive surgical approach to treat the GI venous malformations of BRBNS has been considered unlikely to be successful because of the large number of lesions, their position throughout the GI tract, and the likelihood of recurrence.

Blue rubber bleb nevus syndrome is diagnosed clinically by finding the characteristic blue-black blebs involving both the skin and the gastrointestinal tract. It should be emphasized that gastrointestinal tract involvement may only become apparent years following the appearance of cutaneous lesions. A number of case reports have described patients with skin lesions of BRBN without lesions in the gastrointestinal tract.

The skin of those with BRBNS has lesions that are similar to blue nipples. These skin lesions generally appear in early childhood. Those who have the disease usually develop symptoms and the lesions by the age of two. These lesions clusters of veins can appear anywhere on the body and once a person has them they will have them from that point on. In addition BRBNS lesions can manifest themselves internally as well. Lesions can form on the intestines, liver, and lungs to name a few.

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or present during early childhood. Lesions in the gastrointestinal tract frequently become apparent during childhood or early adulthood.

Blue rubber bleb nevus syndrome (BRBNS) is a syndrome characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the GI tract. In 1860, Gascoyen first described an association between cavernous hemangiomas of the skin and similar lesions in the GI tract. In 1958, Bean further described these lesions and coined the term blue rubber bleb nevus syndrome. BRBNS is an important syndrome because of its potential for serious or fatal bleeding.

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