Vascular Anomalies

Vascular anomalies are very common, occurring in every one in ten children born. They develop from abnormal collections of blood vessels. They have been given many names through time including:

• Non-Medical (improper) terminology:
  • Birthmark, Stork bite, Strawberry, Portwine stain, Cavernous hemangioma, Cystic hygroma, Lymphangioma, Cavernous malformation
• Medical (proper) terminology:
  • Hemangioma, Capillary Malformation, Venous Malformation, Lymphatic Malformation, Arteriovenous Malformation (AVM)

Many vascular anomalies are a lifelong disease; the patients often require multiple treatments that range from medical management, surgical procedures, to neuro or vascular interventional procedures. Because these lesions can occur in any part of the body, all medical specialties are impacted. This often calls for close coordination of the specialties including pediatrics, internal medicine, interventional radiology, and surgical subspecialties. To the untrained eye, these vascular anomalies can look the same; however, proper diagnosis is especially essential because the treatment for hemangiomas and vascular malformations are very different. Today there are many successful treatments for the different anomalies. The specialists at MUSC Hemangioma Vascular Malformation Treatment Program are very experienced in recognizing and diagnosing vascular anomalies and ensuring the proper treatment plan.             

MUSC Hemangioma Vascular Malformation Treatment Program 

MUSC Hemangioma Vascular Malformation Treatment Program is a team comprised of multiple medical specialists who work together to provide the best possible care for our patients. The program is able to treat all types of vascular anomalies. Because there are so many forms of vascular anomalies, hemangiomas and vascular malformations are often misdiagnosed. The treatment for hemangiomas and vascular malformations is very different. The specialists at MUSC are very experienced in recognizing and diagnosing vascular anomalies to ensure the proper treatment plan is followed. Patients are treated by a team of medical specialists who meet monthly to discuss patient treatment plans. This allows the team to make a comprehensive treatment plan that addresses each patient’s individual needs. The team coordinator then helps the patient and their family to arrange care with the multiple specialists involved in their care.

Classification of Vascular Anomalies

Vascular anomalies make up a diverse population of disorders that are classified into two groups:

• Vascular tumors
  • Hemangiomas
• Vascular Malformations
  • Venous malformations
  • Lymphatic malformations (lymphangioma, cystic hygroma)
  • Capillary malformations (port wine stain)
  • Arteriovenous malformations (AVM)

Hemangioma

Cheek hemangioma before & after laser and propranolol.

Hemangiomas are a collection of blood vessels that create a bright red appearance on the skin; they have been given many names in the past such as strawberry or cavernous hemangioma. At birth it is often not visible, but becomes apparent around 1 month of age. Hemangiomas can grow very rapidly during a baby’s first year of life, which can be very frightening for parents. This is a benign tumor, but they can cause bleeding and extend into important bodily areas such as the nose, lips or eyes. After six to 12 months of life, the hemangioma begins to shrink in size and will continue to slowly shrink until six to 10 years of age. They rarely go away entirely. People used to be told to wait and let them shrink away by themselves. Today, we take a much more proactive treatment plan.

Facts About Hemangiomas:

• Hemangiomas are the most common benign vascular tumor of infancy
• Incidence is 10 percent by 1 year of age
• Most common location (60 percent) is in the head and neck
• More common in females
• More common in premature babies
• Hemangiomas can grow in the airway and cause breathing problems

Currently we are still trying to understand why hemangiomas occur. Most of the time they are not predictable and are a random occurrence; however, if there have been other family members with hemangiomas you should see a doctor (geneticist) to make sure there is not a syndrome related to the hemangioma

Today there are many options for treatment. Use of a medication, propranolol has helped control hemangiomas to prevent them from causing serious extensions to important organs. Sometimes other treatments are needed such as steroids, lasers, or surgery. If the hemangioma is in a non-concerning location and not causing any problems, they can often just be watched closely without treatment.

Eyebrow hemangioma before and after laser treatment

Hemangioma on lip before and after surgical excision

Partially regressed hemangioma before and after surgical excision

Hemangioma left cheek and eyelid before and after treatment

Venous Malformations

Venous malformations are the most common of all vascular malformations. They are often present at birth; however, they may not be noticed until later when they grow with the child. Classically they appear soft and exhibit a bluish tinge to the overlaying skin or mucosa. They can bulge with increased blood pressure. The most common presenting complaint is progressive growth, which can lead to disfigurement.

Facts About Venous Malformations:

• Incidence is 1-4 percent
• Present at birth
• They grow with the child
• They are benign, bluish in coloration, nonpulsatile, and soft
• They bulge with straining, crying, or increased heat (hot baths)

Today there are many options for treatment. These can include a combination of observation, surgery, as well as injecting the malformation with medicines that shrink the size of the vessels, called sclerotherapy. There are also medications within clinical trials that are potential options for severe malformations.

Lymphatic Malformations

Lymphatic malformations are composed of malformed lymphatic channels. They are present at birth but may be delayed in recognition until they enlarge and become symptomatic. 90 percent are recognized by two years of age. They are often mixed with venous malformations and for this reason, look similar to venous malformations. They may fluctuate in size in response to a cold or infection occurring within the body. 

Facts About Lymphatic Malformations:

• Incidence 1-2.8 percent
• Can be mixed lesions with venous malformations
• Present at birth, 90 percent recognized by 2 years of age
• They grow with the child
• They are benign, nonpulsatile, and soft
• They may fluctuate in size with an increase in growth during infections/colds

Today there are many options for treatment. These can include a combination of observation, surgery, or sclerotherapy—injecting the malformation with medicines that shrink the size of the vessels. There are also medications within clinical trials that are potential options for severe malformations.

Venous malformation on lip before and after surgical excision.

Capillary Malformations

Capillary malformations are composed of malformed dilated capillary vessels. They are present at birth but may darken in coloration and the skin may thicken as the person ages. Because they are very close to the skin surface they appear red/purple and have a discreet borders. If they are located in specific areas of the face, they should be further investigated for a related syndrome called, Sturge Weber. Treatment depends upon the degree of deformity and can include laser.

Arteriovenous Malformations

Arteriovenus malformation

Arteriovenous malformations (AVM) are composed of malformed arteries and veins. In contrast to the other malformations, these may have a pulsation when touching them. Some are small and do not cause problems, others can swell, ulcerate and cause active bleeding. They are often found within internal organs as well, most occurring within the brain.

Facts About Arteriovenous Malformations:

• They are present at birth
• They grow with the child
• They can have pulsation when feeling them
• They are benign but the severe forms can be life threatening
• Treatment for these can be challenging. Options of treatment can include: surgical excision and/or injecting material that plugs and stops the blood flow through the malformation, called embolization.

Associated Syndromes

• Syndromes associated with vascular anomalies
• Sturge-Weber syndrome
• Hereditary Hemorrhagic Telangiectasia (HHT)
• Parkes-Weber syndrome
• Klippel-Trenaunay syndrome
• Kasabach-Merritt syndrome
• Maffucci syndrome
• Proteus syndrome
• Blue rubber bleb nevus syndrome
• PHACE association
• LUMBAR association