Vascular Anomalies Clinic

A capillary malformation, also called a port wine birthmark, is a type of vascular malformation caused by dilated capillaries (small blood vessels) in the skin that swell and darken as a child grows older. Occurring in approximately 1 of every 300 newborns, capillary malformations appear as pink, red or purple patches of skin. They may occur anywhere on the body.

Capillary malformations grow as your child grows but rarely cause any serious health problems. However, tiny growths called blebs can appear on the malformation. Blebs may bleed easily and sometimes cause pain.

Though rare, sometimes a capillary malformation can indicate a more complex, underlying abnormality or condition. For example:

• A capillary malformation can cover a deeper vascular abnormality involving your child’s arteries, veins and/or lymphatic systems.
• A capillary malformation sometimes appears above a spinal abnormality
• If a capillary malformation covers part of a baby’s forehead and upper eyelid, it can be a sign of a very rare neurological condition called Sturge-Weber syndrome.

A capillary malformation that has no complications can be left untreated or lightened using pulsed dye laser therapy. In pulsed dye laser therapy, a doctor uses a laser to destroy the abnormal blood capillaries. This highly effective therapy does not damage skin surrounding the malformation and rarely causes scarring.

A venous malformation (VM) is a bluish lesion caused by enlarged, abnormally shaped veins. In a VM, the blood vessel walls are typically thin with little smooth muscle around them, allowing the vessels to stretch abnormally. VMs can be large or small and can grow over time.

A child may only develop an isolated VM or have multiple VMs as part of an underlying condition. Patients may experience a number of symptoms based on the size and location of the malformation. VMs do not go away on their own and may recur following treatment.

Because no cure exists for VMs, we focus on managing symptoms. We typically only recommend treatment if the malformation causes pain, creates a prominent deformity, obstructs a vital structure such as an airway, causes gastrointestinal bleeding or affects the child’s vision. Treatment options for VMs may include sclerotherapy, medical therapy and surgical resection.

The lymphatic system consists of organs (spleen, thymus, tonsils and adenoids), lymph nodes and thin tubes (lymphatic channels) that carry lymphatic fluid. An important part of the immune system, the lymphatic system also helps remove extra fluid from the tissues of the body.

Lymphatic malformations are clusters of enlarged and/or misshaped lymphatic channels that do not function correctly. In lymphatic malformations, movement of lymphatic fluid into veins is abnormally slow, resulting in extra fluid that collects and widens the lymphatic channels, causes swelling and cysts (pockets of fluid).

Lymphatic malformations form prior to birth and are thought to be caused by problems in the formation and development of the lymphatic vessels during pregnancy. Most lymphatic malformations are identified at birth or within two years of age. However, some lymphatic malformations may not be noticed until the teenage years or early adulthood if they are small or located inside the body.

Lymphatic malformations are most commonly found in the head and neck, but may appear in other parts of the body. Symptoms and complications of lymphatic malformations vary and depend on the size and the location of the malformation. If left untreated, some lymphatic malformations can cause pain, bleeding and/or infection.

Treatment options include:

• Sclerotherapy to shrink the malformation
• Medical therapy to reduce pain and slow the growth of abnormal lymphatic vessels
• Surgery to remove small, localized malformations without affecting surrounding structures

Kaposiform hemangioendothelioma (KHE) is rare locally aggressive tumor caused by the abnormal growth of blood vessels. A KHE can grow over time, but does not spread to other locations in the body.

The most common symptom of KHE is a growing lesion on the skin that is typically deep reddish purple, has poorly defined edges, is firm and warm to the touch, and is often characterized by shiny and tense skin. Sometimes a KHE can swell and become painful or cause pain with movement that can reduce the range of motion. Some KHE lesions penetrate below the skin into other tissues.

Many children with a KHE experience few complications and may not require medical therapy. However, some patients with a KHE develop Kasabach-Merritt phenomenon (KMP), a condition in which the KHE traps and destroys blood platelets, preventing them from circulating through the bloodstream. Because platelets assist in preventing bleeding, patients with KMP have a higher risk of bleeding.

Treatment options for KHE include medical management, watchful waiting (a few months of observation before determining the most appropriate treatment), embolization (a minimally invasive, image-guided treatment that involves injecting a special material or a device into a blood vessel to block or close it) and surgical removal.

A tufted angioma is a rare benign tumor made up of abnormal blood vessels that develops in and just below the skin. The condition mostly affects infants and young children, although tufted angiomas are sometimes diagnosed in older children and adults. Tufted angiomas are a mild variant of kaposiform hemangioendothelioma (KHE). Tufted angiomas are less likely to cause complications and require treatment than KHE.

Fibro-adipose vascular anomaly (FAVA) is a rare vascular anomaly in which a significant portion of a muscle in one of a child’s limbs is taken over by tough, fibrous, fatty tissue. In addition to changes in muscle tissue, FAVA can also cause abnormalities in the veins or lymphatic vessels. Although patients are diagnosed with FAVA anywhere from infancy to adulthood, most diagnoses occur in older children, teens and young adults. FAVA appears to be a spontaneous condition and is not inherited in families.

The most common symptoms of FAVA are:

• Pain, often severe, in the affected limb
• Difficulty moving/bending the affected limb
• Mild enlargement of the limb with some visible veins

Because FAVA is a relatively new diagnosis, a single widely accepted treatment for the condition does not yet exist. Most treatment approaches involve removal of the abnormal veins and lymphatic vessels. Treatment options for FAVA include: cryoablation (a minimally invasive procedure that used extreme cold to destroy the diseased tissue), medical therapy, embolization (a minimally invasive, image-guided treatment that involves injecting a special material or a device into a blood vessel to block or close it), surgery and physical therapy.

An arteriovenous malformation (AVM) is an abnormal tangle of arteries and veins that disrupts the normal flow of blood and oxygen circulation. Tissues surrounding the AVM may not receive enough oxygen. In addition, the tangled blood vessels can weaken and rupture. Most AVMs occur in the brain and spinal cord. If an AVM develops else in the body, including the arms, legs, heart, lungs, liver, or reproductive or genital system, it is called a peripheral arteriovenous malformation.

The cause of peripheral AVMs is still unclear. Certain genetic changes might play a role in the development of peripheral AVMs, although the condition is rarely passed down through families.

Peripheral AVMs can cause harm by bleeding into surrounding tissues, pressing on and displacing surrounding tissues, and depleting tissues of needed oxygen. Symptoms of peripheral AVMs, which vary based on the size of the malformation and its location, include:

• Lumps on arms, legs or trunk
• Pain and swelling
• Muscle weakness or paralysis
• Numbing or tingling sensation
• Sores or open ulcers on the skin
• Shortness of breath during exertion
• Abdominal pain
• Coughing up blood if the AVM is in the lungs
• Black stools if the AVM is in the digestive tract

Treatment options for peripheral AVMs include compression therapy, medical management, surgical removal and embolization (a minimally invasive, image-guided treatment that involves injecting a special material or a device into a blood vessel to block or close it).

PIK3CA-Related Overgrowth Spectrum (PROS) is a group of rare syndromes, each of which involves body parts that grow too much or have an unusual shape as a result of changes (mutations) to a gene called PIK3CA. PROS can affect various parts of the body, including the skin, blood vessels, bones, fat and brain. Symptoms of PROS depend on the syndrome type and which parts of the body are affected.

Symptoms of PROS are often identified when a baby is born, so that doctors can diagnose a PROS condition at birth. Other times, symptoms do not present until later in childhood.

Examples PROS syndromes are:

• Fibroadipose Hyperplasia
• CLOVES Syndrome
• Megalencephaly-capillary Malformation (MCAP) Syndrome
• Hemihyperplasia-multiple Lipomatosis (HHML) Syndrome
• Hemimegalencephaly
• Facial Infiltrating Lipomatosis (FIL)

While PROS syndromes do not yet have a cure, the conditions and their symptoms can be managed. Newer medications that target the PIK3CA gene may also be used to improve symptoms as well as procedural interventions.

Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM) is a genetic condition in which capillaries (the smallest of the blood vessels) are enlarged. The condition can also involve abnormal connections between blood vessels.

CM-AVM encompasses two main types of vascular anomalies:

• Multiple Capillary Malformations (CMs): CMs are characterized by flat reddish or purple patches on the face, arms and/or legs. These spots lighten when pressed and then refill with blood. CMs do not usually cause health concerns. Most people with CM-AVM have at least one CM. CMs may be present at birth or develop as a person grows older.
• Arteriovenous Malformations (AVM): In CM-AVM syndrome, some patients develop arteriovenous malformations (AVMs), which are improper connections between arteries and veins that can cause serious, sometimes life-threatening health problems. AVMs are usually found in the skin, muscle, bone, brain or spine. Depending on their location, AVMs may or may not be visible. AVMs of the skin, muscle, or bone can usually be seen on exam. AVMs typically have a CM over them or cause overgrowth. When a patient has overgrowth in an arm or leg caused by an AVM with an overlying CM, they are diagnosed with Parkes-Weber syndrome, which is sub-type of CM-AVM. AVMs in the brain or spine are not visible, so an MRI or other imaging is needed to identify them.

Treatment of AVMs found in patients with CM-AVM syndrome depends on the location of the malformation in the body. Treatment options include medication to alleviate general symptoms, embolization (injection of a material into the center of the malformation to block its supply of blood) and surgical removal of the malformation.

Sturge-Weber syndrome (SWS) is a rare neurological condition that causes blood vessels to grow too much, forming growths called angiomas. Angiomas cause a port wine birthmark or capillary malformation (a flat area on the skin that varies in color from red to dark purple) to appear on the face. Angiomas can also grow in the brain and cause seizures and other symptoms. SWS is congenital (present at birth).

Port wine birthmarks associated with SWS are present at birth, often developing near or around the eyes and forehead. The condition may also cause brain abnormalities on the same side of the brain as the facial lesion. Symptoms related to these abnormalities include muscle weakness, seizures, changes in vision and intellectual disability. A child may also have increased pressure in the eye (glaucoma) at birth. The disease does not affect the other organs of the body.

Treatment of SWS depends on the individual’s specific symptoms and may include:

• Laser skin resurfacing to lighten or remove the port wine birthmark
• Seizure-specific treatments
• Regular eye exams to detect and/or treat glaucoma
• Special education for intellectual disabilities or developmental delays

Lymphedema is swelling caused by excess lymphatic fluid (lymph) that collects in the body’s soft tissues, usually in the legs and/or arms. Lymphedema that is present during infancy is called congenital lymphedema or Milroy’s disease. Children with congenital lymphedema may also experience swelling of the genitalia or other tissues. In addition, the condition can lead to pain, skin changes, infections and trouble with daily activities. The causes of congenital lymphedema are unknown, but sometimes the condition is hereditary. Depending on the severity of the condition, congenital lymphedema can be treated via a number of surgical and/or nonsurgical approaches.