Birthmarks and vascular anomalies: Our team of experts serves children and adults

Disorders related to genetic changes in the PiK3CA gene

• CLOVES syndrome — A rare condition that can cause overgrowth of fatty tissue at birth or vascular malformations. It can also cause an abnormal area of skin due to the overgrowth of certain cells and problems with your spine or bones. 

• Klippel-Trenaunay syndrome — A disorder that commonly causes port-wine stains, overgrowth of tissues and bones and blood vessel malformations. 

• Megalencephaly-capillary malformation syndrome — A condition that causes a large head, port-wine stains and the overgrowth of certain body tissues.

These disorders are related to the RASA1 gene. 

• Capillary malformation arteriovenous malformation syndrome — With this condition, you may have isolated port-wine stains. Some people may have underlying arteriovenous malformations. 

• Parkes-Weber syndrome – A condition that may cause port-wine stains, overgrowth of your limbs and arteriovenous malformations or fistulas (an abnormal connection between two body parts). In the long term, this condition may lead to heart failure.

Lymphatic anomaly syndromes include varied disorders of lymphatic dysfunction, fluid collection, and involvement of bone and visceral tissue.

• Generalized Lymphatic Anomalies (GLA)

• Kaposiform Lymphangiomatosis (KLA)

• Gorham Stout Disease

• Central Conducting Lymphatic Anomaly (CCLA)

Vascular malformations involve the vessels in your body. 

• Arteriovenous malformations — Develop when arteries connect directly to veins. Normally very tiny blood vessels called capillaries connect the two.

• Capillary malformations — A birthmark that looks like a flat, red or pink stain on the skin. These are often called port-wine stains. 

• Lymphatic malformations — Occur when your lymphatic system, which helps the body maintain fluid balance and fight infection, doesn’t form properly. This can cause swelling in certain body tissues. 

• Venous malformations — Abnormally shaped veins that don’t work as they should. Over time, they can stretch or enlarge and become very painful. 

• Combined vascular malformations — Disorders that involve two or more types of vessel abnormalities. They are present at birth.

Vascular tumors develop from cells that make lymph or blood vessels. 

• Congenital hemangiomas — Tumors that are present at birth. 

• Infantile hemangiomas — A type of birthmark made of blood vessels. You don’t usually see it at birth. Once it appears, it often looks like a small bruise or a red bump. It may grow in the first few months of life and then get smaller over time. 

• PHACE syndrome — A condition that involves a large hemangioma in the head or face that occurs with other anomalies.

A procedure that closes an abnormal vessel from the inside. This involves using special glues or particles.

Uses light-based therapies to treat complex malformations that involve certain types of blood vessels.

We may use medicine in certain cases if we think they may help.

This involves injecting a substance through your skin into your malformation. The treatment causes scarring on the wall of the blood vessel. That scarring may help destroy or shrink the problem area.

Removes all or part of the vascular anomaly. Sometimes, we combine surgery with other treatments. We may also use surgery to reconstruct areas disfigured by the malformation or to correct functional problems.

Treatment that focuses on the genetic changes that are part of certain syndromes.

A vascular anomaly is a group of blood vessel disorders that that may cause pain, swelling, bleeding, or visible disfigurement.

Some vascular anomalies are caused by abnormalities in specific genes. Others do not have a known cause.

Anyone can get vascular anomalies. They may be present at birth or grow over time. In some cases, they do not become visible or symptomatic until months or years later. Some vascular anomalies syndromes may run in families.

Making a proper diagnosis is required to determine the appropriate treatment options. This requires a detailed clinical history and examination. Often, imaging such as ultrasound or MRI may be needed for confirmation. Sometimes a biopsy is performed to confirm a diagnosis.

Often vascular anomalies are not painful, although some specific types may be. In addition to the potential for causing pain, some may cause functional problems if they grow very large or become infected.

A vascular malformation is made up of arteries, veins, capillaries, or lymphatic vessels. There are several different types of malformations and they are named according to which type of blood vessel is predominantly affected.

A hemangioma is a type of birthmark caused by an abnormal buildup of small blood vessels (capillaries) on or under the surface of the skin. A may look like a red wine- or strawberry-colored birthmark and may protrude from the skin. They are usually present at birth, or shortly after birth. Hemangiomas do not appear as a new spot in an adult.

No. A Port-Wine stain is a capillary malformation, while a hemangioma is considered a vascular "tumor." The expected natural history is different between these two entities, and the treatments may also be different.

Infantile hemangiomas are likely to decrease in size over time. Sometimes the process leaves behind areas of residual color difference or excess tissue that may require treatment. Congenital hemangiomas are typically full size at birth and may or may not resolve completely.

If a hemangioma or vascular malformation is very large, affects the airway or lungs, or bleeds uncontrollably it could be life-threatening.

No. While surgical removal might be necessary, topical or oral medications, blockage of the blood vessels, or laser treatment may be used.