Rare Vascular Conditions
Blue Rubber Bleb Nevus Syndrome (BRBNS)
What is BRBNS?
BRBNS is characterized by multiple skin-venous malformations along with internal venous malformations (most commonly affecting the bowel).
Skin lesions are often apparent at birth or in early childhood. Skin lesions are usually multiple, protruding, dark blue and spongy. They are a few millimeters to several centimeters wide and varied in hue and shape. Most of them do not cause problems or interfere with surrounding tissue, but some may be painful on their own or tender to the touch.
Skin lesions rarely bleed unless hit or scratched.
Cobb Syndrome
What is Cobb Syndrome?
Cobb Syndrome is a rare, noninherited disorder that involves spinal angiomas or arteriovenous malformations (AVM) with congenital, vascular skin lesions.
Symptoms of Cobb Syndrome usually include port wine stains (PWS) or angiomas.
Maffucci's Syndrome
What is Maffucci's Syndrome?
Maffucci's Syndrome is a rare genetic disorder characterized by benign (noncancerous) overgrowths of cartilage, bone deformities and hemangiomas.
The child appears normal at birth, but before puberty, a hard, small, localized outgrowth appears, usually on a finger or toe. This is soon followed by other nodules that involve the arms or legs.
Benign lesions are often found in certain bones of the hands and feet. Skeletal malformations may include:
- Legs that are disproportionate in length
- Abnormal side-to-side curvature of the spine (scoliosis)
In many cases, bones may tend to break easily. In most cases, hemangiomas appear at birth or during early childhood, and may be progressive.
Proteus Syndrome
What is Proteus Syndrome?
Proteus Syndrome is a condition involving abnormal growth of the bones, skin and head. It can include a variety of symptoms, including:
- Overgrowth, asymmetry (mismatch of right to left) and gigantism of the limbs
- Increased size of an organ or bones
- Raised, rough skin
- Deep lines and overgrowth of soft tissue on the soles of the feet
- Patches of overgrown blood or lymphatic vessels
- Local overgrowth of fat (lipomas) or undergrowth of fat
- Various, mostly benign tumors
- Deep venous thromboses (blood clots)