Arteriovenous Malformations (AVMs) are abnormal connections between arteries and veins that are congenital (present at birth). This results from the absence of a normal network of tiny vessels (capillaries) that normally connect arteries and veins.
AVMs will slowly progress over time. The lesions become larger, darker, warmer and more painful. Symptoms such as pain, swelling or bleeding may develop in early childhood. There are no known causes of AVM during pregnancy.
Birthmarks are areas of discolored and/or raised skin that are apparent when your baby is born or within a few weeks of birth. About 10% of babies have a vascular birthmark. Most birthmarks are benign and don't require any treatment. They are most often seen in the middle of the forehead, eyelids, tip of the nose, upper lip and at the hairline on the back of the neck.
Children with blue rubber bleb nevus syndrome (BRBNS) have multiple venous malformations (VMs) on their skin and inside their body, most often related to the bowel. The skin VMs appear at birth or in early childhood. They look lumpy, dark and spongy. They may be dark blue, red, purple-red or black in color. Most do not cause problems or harm to nearby tissue. Some may be painful or tender to the touch. They rarely bleed unless hit or scratched.
Children with Gorham-Stout disease experience gradual bone loss caused by an abnormal overgrowth of certain vessels, called lymphatic vessels. These vessels are a normal part of the body's lymphatic system, which transports a fluid called lymph that helps the body clear toxins and waste. Gorham-Stout patients have thin walled lymphatic vessels that dilate, which lead to the breakdown of bone (resorption).
While bone resorption is a normal process in bone growth, Gorham-Stout patients experience bone loss and may have lymphatic vessels in place of where bone used to be.
Gorham-Stout disease is sometimes called progressive massive osteolysis or vanishing bone disease.
A hemangioma is a skin lesion. If it's red ("superficial"), then it's in the top skin layers. If it's blue ("deep"), then it's deeper in the skin. Often, there's a combination of these called "mixed."
Hemangiomas are usually not present at birth, although they may appear within a few months after birth. They often begin in an area that has appeared slightly dusky or differently colored than the surrounding tissue.
They more commonly occur in girls, premature babies and low birth weight babies. Eighty percent of hemangiomas are near the head and neck.
Hemangiomas can grow for up to 12 months and then usually begin a long, slow fading process. This “shrinking” process can last from 3 to 9 years of age.
While most hemangiomas eventually involute on their own, some families are not comfortable with this approach and surgical intervention is required.
A child with HHT, also known as Osler-Weber-Rendu syndrome, tends to form blood vessels that lack the capillaries between an artery and vein.
Capillaries are very small blood vessels where arteries drop off their oxygen and then flow into veins (large blood vessels without oxygen).
In this condition, without capillaries, arterial blood under high pressure flows directly into a vein. This pressure tends to rupture the vessels and results in bleeding.
Telangiectases often occur at the surface of the body, such as the skin and the mucous membrane that lines the nose.
When HHTs involve larger blood vessels, they can be found inside the body and are called arteriovenous malformations (AVMs).
AVMs can have other causes, but the telangiectases and AVMs of HHT occur mostly in the following areas: Nose, skin of the face, hands and mouth, lining of the stomach and intestines (GI tract), lungs and brain.
While it may present as a birthmark, KHE is a rare benign tumor caused by abnormal growth of blood vessels. They can appear anywhere on the body, even inside the chest, abdomen or bones. KHE can grow, but it does not spread to other locations of the body.
A mild form of KHE that is less likely to require treatment is called a tufted angioma.
Kasabach-Merritt phenomenon is a complication where vascular tumors destroy platelets. Platelets are responsible for the formation of blood clots that stop bleeding in the body. KMP can be a serious condition, as these patients have an increased risk for bleeding.
A diagnosis of Klippel-Trenaunay syndrome (KTS) can be difficult, both for your child and for your whole family. It’s a rare condition that’s not completely understood.
Some facts about KTS:
The lymphatic system is a collection and transfer system for fluid in the body's tissue and is part of the immune system. A LM is often present at birth, most commonly in the neck and face area.
LMs do not involve blood vessels. Instead, they involve the lymphatic, or body fluid, system. They result from a blockage or defect of the lymphatic vessels as they are forming. When this is close to the surface of the skin, you can see a prominent enlargement of the area. If the face is involved, it can swell. If it occurs in the mouth or tongue, it can interfere with eating and breathing.
Often called cystic hygroma or lymphangioma, LMs are often misdiagnosed as hemangiomas.
A PWS begins as flat, pink to dark red areas of skin. They usually follow nerves on the face or arms and legs.
A PWS on the eyelid or forehead can sometimes be associated with a condition called Sturge-Weber syndrome, in which similar lesions can be found in the brain and cause neurologic problems.
If your child has Sturge-Weber syndrome, it means that she was born with a vascular birthmark and neurological abnormalities. Seizures develop in 75 - 90% of all children with the syndrome. The seizures often start before a child reaches age 1 and may worsen as she gets older. About one-third of children with the syndrome are born with glaucoma on the side of their face birthmark.
VMs are collections of dilated veins not used by the body. They are usually present as a painless purplish mass at birth, but they may not be recognized for some time. They grow slowly with your child. The mass tends to get larger if it is below the level of the heart and during adolescence. The closer the mass is to the surface of the skin, the more clearly the veins can be seen.
We also diagnose and treat other rare conditions at the VAC, including but not limited to: