Although these anomalies develop before birth, symptoms may not develop until a child is older.
Types of vascular malformations include:
- Port-wine stain. This type of red or purple birthmark is caused by enlarged capillaries in the skin. It is usually present at birth. It may start out pink and then darken and thicken as your child grows. Later in life, angiokeritomas (red or blue noncancerous skin lesions) and pyogenic granulomas (skin growths that are small, round and red in color) can grow on the surface of port-wine stains. Port-wine stains are most commonly found on the face and neck, but they can occur on other parts of the body. Some port-wine stains on the face are related to Sturge-Weber syndrome. People with Sturge-Weber syndrome have a 10 to 15 percent risk of developing eye or neurological problems such as glaucoma and seizures.
- Venous malformation. Venous malformations are clusters of abnormally large veins. These clusters steadily grow larger as a child grows and are the most common type of vascular malformation. These malformations can be dangerous. They require treatment because they can cause blood clots or disorders that reduce the blood’s ability to clot. Venous malformations appear as red or purple marks on the skin, and deeper masses can cause bumps on the skin. They can be painful, and some can bleed because they are so close to the surface of the skin.
- Arteriovenous malformation. Arteriovenous malformations are abnormal, direct connections between arteries (which carry blood from the heart) and veins (which return blood to the heart). These connections interfere with the blood's ability to deliver oxygen to tissues and remove waste products from the body. Arteriovenous malformations cause blood to bypass the lungs, so less oxygen is available for body tissues. Eventually, the heart becomes enlarged as it works to maintain the oxygen level in the blood. This can ultimately cause heart failure. Clots can also pass through arteriovenous malformations and then through the heart to various organs. If these clots block blood vessels, the organs can be damaged. Arteriovenous malformations appear in forms similar to venous malformations but are usually warm and may have a pulse you can feel. Symptoms of advanced arteriovenous malformations include shortness of breath and fatigue.
- Lymphatic malformation. Lymphatic malformations are sponge-like growths that slow down the lymphatic system. The lymphatic system moves lymph (a clear fluid that contains infection-fighting white blood cells) throughout the body. Lymphatic malformations can become large masses and can form in many parts of the body, including the:
- Skin. Lymphatic malformations on the skin appear as visible lumps. Lymph can leak through the skin, and bacteria can enter the body, resulting in frequent and serious infections.
- Bone. Lymphatic malformations that form in the bone cause pain and destruction of bone tissue.
- Gastrointestinal tract. Lymphatic malformations that form in the gastrointestinal tract can cause malabsorption (the reduced ability to gain nutrients from food).
- Chest or windpipe. Lymphatic malformations in the chest or windpipe (trachea) can cause breathing problems.
Diagnosis of Vascular Malformations
Doctors at Riley at IU Health diagnose vascular malformations through physical examination. Diagnosis of malformations that are deeper in the skin or on internal organs may require an ultrasound or magnetic resonance imaging (MRI) .
Klippel-Trenaunay Syndrome and Other Vascular Overgrowth Syndromes
Some children who have venous or lymphatic malformations may have significant overgrowth of the affected areas of the body. This can lead to swelling, pain and other complications. Your child’s doctor may recommend additional studies, including genetic counseling, to diagnose these syndromes.