Blue Rubber Bleb Nevus Syndrome Symptoms

This is the hallmark sign of brbns.

Blue rubber bleb nevus syndrome symptoms.

These small purple lesions are particularly common in the gastrointestinal gi tract. Blue rubber bleb nevus syndrome symptoms and causes. Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. 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.

It was described by william bean in 1958. 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. In many cases the disease appears to occur randomly. The main signs are the presence of small purple generally painless blebs on the skin.

Causes the cause of blue rubber bleb nevus syndrome brbns is not clear. Brbns is caused by somatic mutations in the tek gene. In general blue rubber bleb nevus syndrome is characterized by skin spots nevi that may be few to hundreds in number. The blue marks on the skin are usually visible immediately after birth.

Its presentation is usually sporadic although cases of autosomal dominant inheritance have been reported. What are the symptoms of blue rubber bleb nevus syndrome. Size tends varies from millimeters to several centimeters in length. Some evidence suggests that it may be due to the inheritance of a defective gene.

How is blue rubber bleb naevus syndrome diagnosed. 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. No two children experience blue rubber bleb nevus syndrome brbns in exactly the same way. The disease is characterized by the presence of fluid filled blisters as visible circumscribed chronic lesions.

According to bean there are about three types of nodules in patients with blue rubber bleb nevus syndrome. However no genes or mutations associated with brbns have been identified. In most cases hemangiomas are asymptomatic and symptoms are usually the result of its mass effect or rupture with bleeding 1 2 3 4. Diagnosis blue rubber bleb nevus syndrome brbns is.

Its pathogenesis is poorly understood. There is no standard of care for brbns. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or present during early childhood. Blue rubber bleb nevus syndrome brbns is a rare blood vessel vascular disorder that affects the skin and internal organs of the body.

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.