Blue Rubber Bleb Nevus Syndrome Symptoms

Blue rubber bleb nevus syndrome symptoms and causes.

Blue rubber bleb nevus syndrome symptoms.

This is the hallmark sign of brbns. The first type is typically referring to the noncancerous protuberant skin lesions which range from blue to violet in color and are insignificant in size measuring for only less than 1 to 2 centimeters. In most cases hemangiomas are asymptomatic and symptoms are usually the result of its mass effect or rupture with bleeding 1 2 3 4. Bleeding from venous malformations at other sites may be evident as pain swelling and disturbance of function depending on the site of the bleed.

What are the symptoms of blue rubber bleb nevus syndrome. Blue rubber bleb nevus syndrome brbns is a rare condition characterised by venous malformations in the skin gastrointestinal tract and other parts of the body. The main signs are the presence of small purple generally painless blebs on the skin. In many cases the disease appears to occur randomly.

Diagnosis blue rubber bleb nevus syndrome brbns is. Usually seen in children brbns presentation in adults is rare. How is blue rubber bleb naevus syndrome diagnosed. Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person.

In general blue rubber bleb nevus syndrome is characterized by skin spots nevi that may be few to hundreds in number. Its pathogenesis is poorly understood. Its presentation is usually sporadic although cases of autosomal dominant inheritance have been reported. The disease is characterized by the presence of fluid filled blisters as visible circumscribed chronic lesions.

No two children experience blue rubber bleb nevus syndrome brbns in exactly the same way. There is no standard of care for brbns. Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of abnormal blood vessels affecting the skin or internal organs usually the gastrointestinal tract. The blue marks on the skin are usually visible immediately after birth.

Size tends varies from millimeters to several centimeters in length. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or present during early childhood. Some evidence suggests that it may be due to the inheritance of a defective gene. Blue rubber bleb nevus syndrome brbns sometimes called bean syndrome is a rare congenital vascular anomaly in which malformed veins or blebs appear on the skin and surfaces of internal organs.

These small purple lesions are particularly common in the gastrointestinal gi tract. Causes the cause of blue rubber bleb nevus syndrome brbns is not clear. A family association has already been identified linked to chromosome 9p although sporadic type is the commonest. It was described by william bean in 1958.

Brbns is caused by somatic mutations in the tek gene. However no genes or mutations associated with brbns have been identified.