Blue Rubber Bleb Nevus Syndrome Symptoms

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.

Blue rubber bleb nevus syndrome symptoms.

In most cases hemangiomas are asymptomatic and symptoms are usually the result of its mass effect or rupture with bleeding 1 2 3 4. 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. Causes the cause of blue rubber bleb nevus syndrome brbns is not clear. In many cases the disease appears to occur randomly.

The blue marks on the skin are usually visible immediately after birth. Blue rubber bleb nevus syndrome brbns is a rare blood vessel vascular disorder that affects the skin and internal organs of the body. The main signs are the presence of small purple generally painless blebs on the skin. What are the symptoms of blue rubber bleb nevus syndrome.

Some evidence suggests that it may be due to the inheritance of a defective gene. No two children experience blue rubber bleb nevus syndrome brbns in exactly the same way. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or present during early childhood. Its pathogenesis is poorly understood.

The disease is characterized by the presence of fluid filled blisters as visible circumscribed chronic lesions. How is blue rubber bleb naevus syndrome diagnosed. Diagnosis blue rubber bleb nevus syndrome brbns is. These small purple lesions are particularly common in the gastrointestinal gi tract.

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. A family association has already been identified linked to chromosome 9p although sporadic type is the commonest. The symptoms of anaemia include tiredness weakness and lack of energy. Brbns is caused by somatic mutations in the tek gene.

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 presentation is usually sporadic although cases of autosomal dominant inheritance have been reported. Size tends varies from millimeters to several centimeters in length.

According to bean there are about three types of nodules in patients with blue rubber bleb nevus syndrome. There is no standard of care for brbns. It was described by william bean in 1958. Usually seen in children brbns presentation in adults is rare.

Bleeding from venous malformations at other sites may be evident as pain swelling and disturbance of function depending on the site of the bleed. However no genes or mutations associated with brbns have been identified.