According to bean there are about three types of nodules in patients with blue rubber bleb nevus syndrome.
Blue rubber bleb nevus syndrome symptoms.
Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person.
Blue rubber bleb nevus syndrome symptoms and causes.
In general blue rubber bleb nevus syndrome is characterized by skin spots nevi that may be few to hundreds in number.
Bleeding from venous malformations at other sites may be evident as pain swelling and disturbance of function depending on the site of the bleed.
Size tends varies from millimeters to several centimeters in length.
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 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.
There is no standard of care for brbns.
How is blue rubber bleb naevus syndrome diagnosed.
Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or present during early childhood.
The symptoms of anaemia include tiredness weakness and lack of energy.
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.
However no genes or mutations associated with brbns have been identified.
Its presentation is usually sporadic although cases of autosomal dominant inheritance have been reported.
This is the hallmark sign of brbns.
A family association has already been identified linked to chromosome 9p although sporadic type is the commonest.
What are the symptoms of blue rubber bleb nevus syndrome.
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.
The blue marks on the skin are usually visible immediately after birth.
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.
Causes the cause of blue rubber bleb nevus syndrome brbns is not clear.
It was described by william bean in 1958.
Some evidence suggests that it may be due to the inheritance of a defective gene.
Its pathogenesis is poorly understood.
Brbns is caused by somatic mutations in the tek gene.
These small purple lesions are particularly common in the gastrointestinal gi tract.
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.
In many cases the disease appears to occur randomly.
Diagnosis blue rubber bleb nevus syndrome brbns is.
