Of the recorded births each year, approximately four hundred thousand (one in 10) newborns will be diagnosed with a vascular birthmark. Experts agree that 90% of these birthmarks will disappear by the time the child is two years of age. However, the remaining 10% will have a vascular birthmark so significant that it will require the opinion of a medical specialist.
These lesions can deform facial features, block the airway, compromise vision, or ulcerate and cause pain for the affected baby, as well as stress for the entire family. Therefore it is crucial that parents understand the diagnosis and treatment options so that they can make educated decisions.
Vascular Birthmarks
First, parents and physicians need to know how to recognize vascular birthmarks, which can be flat or raised. Nearly 85% occur in the head and neck area, primarily the face. They can appear anywhere on the infant and some can even be internal. Excess blood in vessels and the depth determine if the lesion will appear blue, pink, or red. Deeper-involved vessels appear blue and more superficial vessels appear red, purple, or pink.
The diagnosis and treatment of vascular birthmarks continue to be a source of anxiety and confusion for both the families of the affected children and their healthcare providers. Currently, there is no one, single medical specialty dedicated to the diagnosis and treatment of vascular birthmarks.
In addition, this topic is barely covered in medical schools, and there are no uniform standards of care. This makes the search for the right doctor to evaluate and treat this condition extremely challenging.
Parents wander from doctor to doctor only to find that they will have vastly different diagnoses and treatment plans. These conflicting protocols heighten parents’ anxiety as they discover they will need to learn an entirely new language to try to understand what is happening to their infant. Understanding the language — the differences between the types of lesions, as well as treatment options — will enable parents to make more informed decisions.
In the past, the term "hemangioma" was used to describe all vascular lesions. However, it is important to understand that hemangiomas are vascular, but all vascular lesions are not hemangiomas. Most experts recognize two groups of vascular lesions: hemangiomas and vascular malformations. These two subtypes behave differently from each other. It is critical to understand that a hemangioma is different from a vascular malformation. They may look alike, and both are vascular, but they are quite different.
Hemangiomas
The first, and most common, is the hemangioma. These can appear at or shortly after birth. The typical "infantile hemangioma" will appear flat and will grow rapidly for the first four or five months and then will continue to grow slowly for up to one year. There are exceptions, since some will stop growing before nine months and some will continue to grow beyond one year.
Hemangiomas grow for up to one year and then will regress over a period of 10 years. This regression is not to be confused with "disappearing" or "going away". Over 70% will leave an aesthetic deformity, similar to a person who weighs 300 pounds and loses 150 pounds and leaves sagging, redundant tissue. Many medical experts consider these lesions to have "gone away" when, in fact, the hemangioma has regressed but a deformity remains.
Hemangiomas can be singular or multiple. More than three lesions, especially three large lesions, should alert the physician to do an ultrasound to determine if there are any internal lesions. Some internal lesions require treatment and some do not. Lesions that cover a large area, especially a large area of the face, are often referred to as segmental and can indicate other problems.
Large hemangiomas need special evaluation for underlying or combination problems. An eye specialist, heart specialist, hematologist, and other pediatric specialists may need to be involved in evaluation for possible syndromes such as PHACE (a syndrome with posterior fossa (brain) abnormalities, hemangiomas, arterial abnormalities, cardiac problems, and eye abnormalities) or Kasabach–Merritt. These syndromes can be dangerous and even fatal. Infants who fail to thrive or do not reach milestones should be evaluated for these syndromes if they have multiple, large, or combination lesions.
There is also a subtype of hemangiomas that is fully formed at birth. These lesions are either a NICH (non-involuting congential hemangioma) or a RICH (rapidly involuting congential hemangioma). Imaging studies will confirm if the lesion is a NICH or RICH.
If it is a NICH, it will have to be removed, typically by surgery, because it will never regress. On the other hand, a RICH will regress rapidly, usually by age two, and can be left alone. Imaging studies and a biopsy evaluation can determine the difference.
Most focal, singular, hemangiomas can be removed by surgery. Drug therapy such as beta blockers, steroids, or chemotherapy drugs can be used to shrink large and complicated lesions. Lasers can also be used on early lesions that are still somewhat flat.
Once the hemangioma has bulk, surgery or drug therapy is usually the only course of treatment. Most hemangiomas start out as small, flat lesions and no one knows which ones will become large or problematic.
Vascular Malformations
Malformations are completely different from infantile hemangiomas. They can appear at birth fully formed, or they can appear at any time in life and grow rapidly or slowly throughout life. Most are hormone sensitive and therefore have growth spurts around puberty, pregnancy, and menopause. Malformations never "go away" though some may "flatten" or lay dormant for years and then recur.
Malformations are defined by the vessels involved. They are lymphatic (often called cystic hygroma or lymphangiomas), venular (venous malformations), arteriovenous (AVMs), or capillary (port wine stain). All can be singular or multiple. The most complicated of these lesions that is seen at birth is the lymphatic malformation, often still referred to as a cystic hygroma.
Cystic hygromas appear on sonogram during pregnancy. At one time, these lesions were very difficult to treat and the prognosis was not good. However, there are multidisciplinary treatment centers and experts who are having great success with combinations of drug and/or surgical treatment. These lesions need immediate intervention because they are hypervascular and can cause bone overgrowth if left alone.
Venular malformations usually appear as a bluish mass and favor the mouth area but can appear anywhere, and arteriovenous are dark bluish/purple lesions that can be flat or raised. These typically appear later in life in the skin but can appear internally, especially in the brain area, in infants.
Lastly, capillary malformations are also known as port wine stains. These lesions are flat and pink or red at birth. Many physicians tell parents to "wait and see" but this approach can cause the lesion to thicken and become problematic. Current philosophy is to treat infants with port wine stains early because the vessels are thinner and respond better to laser treatments. Port wine stains never truly "go away" though they can be lasered to a point where they are not easily seen.
Treatment
Treatment for most malformations includes some drug therapies, embolization (plugging feeder vessels so that blood no longer can pool in the area), sclerotherapy (alcohol is injected to dry up the blood) and combinations of drugs, surgery, and even some lasers such as the NdYag. And treatment can be singular or multiple. The key is that the outcome should be the best restorative approach so that the skin that has been deformed by the lesion is restored to its originally intended state. This brings up the point of insurance coverage.
Most insurance companies deny treatment of hemangiomas and some malformations. They consider treatment to be "cosmetic", "elective", and "not a medical necessity". Nothing could be farther from the truth. Cosmetic procedures enhance an existing function but reconstructive surgery restores a feature to its intended appearance. Treatment of vascular birthmarks is restorative and reconstructive, not cosmetic.
Medical associations need to adopt uniform standards for vascular malformation and hemangioma diagnosis and treatment. The Vascular Birthmarks Foundation (VBF) has proposed such guidelines referred to as "Babies with Birthmarks", which suggest that pediatricians should refer an infant to a vascular birthmark specialist if at the four-week well-baby check up there is a problematic or a potentially problematic birthmark so that treatment can begin early.
Hemangiomas can be kept from growing if the infant is started on drug therapy or laser therapy during the first few weeks of growth and malformations that are removed early leave a small chance of recurrence. Additionally, port wine stains can be "cleared" if laser therapy starts in infancy.
Parents can find supportive information at the VBF website (www.birthmark.org) if their insurance company denies treatment. In addition, the website contains a worldwide list of physicians who understand how to diagnose and treat these lesions. Parent resources are also available for education and support. Parents have the right to accurate information regarding the diagnosis and treatment of their infant's vascular birthmark.
Recommended reading: Story of Julia's Hemangioma
Linda Rozell-Shannon is the President and Founder of the Vascular Birthmarks Foundation, the leading not-for-profit in the world for families afflicted with vascular birthmarks, tumors or syndromes. She has been a freelance writer and analyst for over 25 years and is the co-author of Birthmarks: A Guide to Hemangiomas and Vascular Malformations (Women’s Health Publishing, 1997). Rozell-Shannon holds a PhD in Education.
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