Vascular birthmarks are red or blue lesions consisting of abnormal growths or structural arrays of blood or lymph vessels at the surface of the skin or immediately beneath the surface in the dermal layer. They are congenital but not an inherited genetic defect that may be passed to the next generation. There are two main types: hemangiomas and vascular malformations. Frequently, they are noticeable either at birth or become apparent within the first six months of life. Vascular birthmarks are usually noted in the face and neck resulting in cosmetic disfigurement. One type may involve the eyelid and with its presence place pressure on the tissues of the eyeball itself ultimately resulting in blindness of the affected eye if left untreated. Two types are associated with lesions in other areas of the body that are associated with life-threatening complications. Others may be associated in some instances with serious genetic defects. Other malformations may not present until much later in life with a triggering event such an upper respiratory infection bringing attention to their presence.
The most common birthmark of infancy; the hemangioma is composed of stem cells (embryonic cells that may become many different types of tissue). The hemangioma is considered a benign (non-cancerous) tumor that is congenital but not genetically inherited. The cause of these tumors is unknown but the risk of having one goes up with prematurity, low birth weight, and being a twin either identical or fraternal. Hemangiomas when present occur 80% of the time in the head and neck.
There are two types of hemangiomas: focal and segmental. Focal hemangiomas involve only one area of the face with segmental lesions involving two or more areas of the face either on one or both sides. Both are present at birth, grow rapidly in size in the first month or two and then stop growing by the age of six or seven months. Most hemangiomas begin to involute (disappear) by age two to three: however, a significant number of segmental hemangiomas enlarge for a longer period in infancy with many not undergoing involution until the age of twelve. Segmental hemangiomas are associated in 30% of children with abnormalities in other areas of the body that may be life-threatening. Hemangiomas of the eyelid may represent a threat to vision. Currently, no statistics exist on the number of hemangiomas that involute at a later date. Despite involution all leave significant scarring or residual tumor with the attendant cosmetic issues.
Hemangiomas and Association with Other Medical Problems
Unfortunately, segmental hemangiomas may be associated with other abnormalities. In fact, a clinical syndrome entitled with the mnemonic PHACES summarizes the associated abnormalities:
- P-Posterior fossa abnormalities (in the back part of the skull or brain)
- A-Arterial abnormalities
- C-Cardiac abnormalities
- E-Eye abnormalities
- S-Sternal defect and/or supraumbilical raphe (breast bone defect and/or a gap in the midline above the navel)
The brain abnormalities in this syndrome involve areas of the back part of the brain and may result in seizures. In addition, there may be closure of the main arteries supplying blood to various parts of the brain resulting in strokes. The hemangiomas of the face are usually on one side and in the distribution of the main trunks of the nerve supplying sensation to the face. The arterial abnormalities involve the large artery leaving the heart, the aorta, and may require surgical repair. Cardiac abnormalities consist of abnormal holes between the upper chambers of the heart that often spontaneously close but if persistent may require surgical closure. Eye abnormalities are multiple and affected every structure of the eye from the retina outward always on the side of the facial hemangiomas with the deformities often resulting in unilateral (one sided) blindness. Sternal defects range from simple pits to complete clefts. Although, not part of the mnemonic several patients are hypothyroid (low thyroid function) and some have no external ears. The cause of this syndrome is unknown.
Complications of Hemangiomas
Hemangiomas are made up of benign cells and therefore non-malignant in clinical behavior. Unfortunately, if located in a vital organ or structure and of any significant size their presence may present serious consequences. The following will highlight the significant possible complications of hemangiomas that are not associated with the PHACES syndrome.
A hemangioma of the eyelid may put pressure on the cornea of the eye interfering with its function. The cornea functions to focus rays of light on the retina. Continuous out of focus images presented to the retina cause the visual center of the brain to ignore this input resulting in a condition known as amblyopia or lazy eye. Essentially the condition is a partially or completely blind eye since there is no central nervous system processing of vision from that eye. If appropriate treatment is begun early the blindness can be averted and normal central processing results.
Hemangiomas may grow in the trachea (windpipe) often directly below the vocal cords of the larynx (voice box). With enlargement the child will exhibit a high pitched sound upon inspiration; a phenomenon termed inspiratory stridor. A tracheal hemangioma is often seen in infants who have a hemangioma of the lower face or upper neck. The presence of stridor is an emergency and the child should be taken to the emergency department directly when it begins due to the risk of possible airway obstruction and death.
Failure to Thrive
Infants who have a large focal hemangioma or many focal hemangiomas may fail to thrive since there is simply not enough nutrient intake to support both the rapidly growing tumor and the infant. The child will stop normal weight gain for his or her age or even begin to lose weight.
Infants who have a large focal hemangioma or multiple segmental hemangiomas may develop heart failure. The additional number of blood vessels in the hemangioma places a tremendous extra work load on the heart and as in adults once the work capacity of the cardiac muscle is exceeded the heart fails with the child manifesting signs of cardiac failure. Cardiac failure is common in children who have hemangiomas of the liver which is often the case when there are more than five hemangiomas of the skin; therefore, examination of the abdomen in search of hemangiomas of the liver is recommended in children with numerous skin hemangiomas.
Ulceration of the skin overlying a hemangioma is not an infrequent occurrence. The condition is extremely painful and can result in bleeding that may be severe. Since there is no reliable and effective way of treating hemangiomas management is geared toward pain relief. Children are unable to vocalize their pain: therefore, pain management in infancy may be extremely difficult and require a specialist in this particular subspecialty of pediatric of medicine.
The skin of the infant and young child has a large amount of connective tissue in the layer of the dermis below the skin in the form of collagen and elastin accounting for its suppleness and strength. A hemangioma replaces the collagen and elastin but with involution the normal dermal layer is absent resulting in a depressed area where in the former location of the tumor. This is an atrophic scar appearing pale, flat, or depressed below the level of surrounding skin often with bluish streaks representing dilated blood vessels or spider veins due to broken capillaries.
Here again following involution of the hemangioma the walls of the blood vessels making up and surrounding the vessels as well as the accompanying connective tissue of the tumor itself do not involute leaving behind relatively large amounts of fibrous and fatty tissue. The area previously occupied by the tumor is thus replaced by a doughy feeling mass under an atrophic scar resulting in a cosmetic deformity although not brightly colored it is still quite noticeable.
Ulceration of a hemangioma will always leave a scar either of the hypertrophic (thick scar) type or the atrophic (thin scar) type. Hypertrophic scarring is commonly referred to as a keloid or keloid type scarring. The scar is thickened and represents a large amount of collagen and elastin in the subcutaneous tissues that is quite unsightly. It is more common in darker pigmented people. Hypertrophic scarring is extremely difficult to treat as each attempt to excise the scar results in bringing about the same process, healing, that caused the scarring initially. Surgical excision followed by assiduous adherence to plastic surgical techniques and the judicious use of injectable steroids in the incision is required for any hope of an acceptable result.
Vascular malformations are abnormal connections between blood vessels or marked dilation of lymphatic vessels. Vascular malformations consist of abnormal connections between arteries and veins, veins and veins, venous-lymphatic and capillary, arterio-lymphatic and capillary, and finally lymphatic to lymphatic. A vascular malformation may be best visualized by comparing a map of a highway system in any major city representing an orderly array of roads connecting and intersecting (normal vascular anatomy) with a random scribble on a notepad with hundreds of marks made haphazardly going in every direction without any apparent order whatsoever (vascular malformation). In the case of a lymphatic malformation (cystic hygroma) the structure is one of a numerous channels running into a large lake with multiple bays and inlets. Some lymphatic malformations have very small bays and inlets (microcystic) and some have very large bays and inlets (macrocystic).
Vascular malformations are congenital. They are not genetic in cause and thus not inherited. Some of them in some cases are associated with recognized syndromes that include genetic abnormalities as well as abnormalities in organs throughout the body.
The cause of vascular malformations is presently not known. They are present at birth, do not grow as a tumor as do hemangiomas but do increase in size with the growth of the individual. Unlike hemangiomas they do not disappear with age or involute spontaneously.
Types of Vascular Malformations
Vascular malformations are divided into major and minor types. They are named as follows:
- Venular malformations or Port wine stains are the most common of the vascular malformations occurring in roughly 1 in 1000 persons. The cause is due to dilation of the small veins immediately below the skins surface. It is thought that this coupled with the absence of innervation (nerve input) to the muscle surrounding the veins in the area of the malformation results in the dilation of the veins. The net result is a reddish discoloration of the skin in the area. Venular malformations vary in darkness between individuals and may vary with emotions such as anger in the same individual. The lesions may become thickened with age resulting in blebs or “cobblestoning” of the vessels. Port wine stains may be associated with Sturge-Weber syndrome consisting of the same types of lesions in the eye and meninges of the brain resulting in visual loss, seizures and mental retardation.
- Venous malformations are variable in location and depth. They may be superficial or deep and are found in the cheek inside the mouth, the tongue, the lips, the face, and the neck. Consisting of a plexus (web-like structure) of dilated veins they are bluish in color and distend with the head in a dependent position (head down).
- Arterio-venous malformations are an abnormal direct connection between the arterial and venous side of the circulation without passing through capillaries and the tissues first. They may be compact and dense or fairly diffuse. The vessels surrounding them may appear dilated and if the lesion is near the surface of the skin it will appear pink in color. Unlike venous malformations there will be no distension with the head in a dependent position. A murmur called a thrill may be heard in larger compact lesions with a stethoscope.
- Lymphatic malformations also known as cystic hygromas or lymphangiomas represent a region of slow flow of lymphatic fluid in a lymphatic channel resulting in an expanding mass containing lymph. The term lymphatic malformation is preferred in by modern medical terminologists. Two types of malformations are recognized; those that consist of many small cystic areas and those that consist of fewer large cystic areas. Lymphatic malformations classically present in the area of the neck behind the sternocleidomastoid muscle which is the muscle dividing the neck diagonally from the tip of the mastoid area to the collar bone. These malformations often become very large in size and are a significant cosmetic issue. Infrequently, large ones may affect swallowing and airway function or both. The lesion may be associated with one fatal syndrome (Cowchock Wapner Kurtz syndrome) and two genetic syndromes (Turner syndrome and Noonan’s syndrome).
- Arterio-venous capillary syndrome malformation or Parkes Weber syndrome is a genetic syndrome due to a mutation of a gene. It is characterized by numerous abnormal connections between arteries and veins known as arterio-venous fistulas and capillary malformations presenting as pink blotches throughout the skin. In addition there is marked muscular and skeletal hypertrophy of a limb usually one leg so that is much longer and larger than the other leg. Complications include congestive heart failure and bleeding.
- Venous capillary lymphatic malformation or Klippell Trenaunay Weber Syndrome is similar to arterio-venous capillary malformation syndrome in that there is enlargement of one limb: however, in the case of this syndrome the vascular anomalies consist of Port wine stains that are sharply demarcated and abnormalities of the lymph vessels in the affected limb. The condition is congenital and is due to a translocation defect in a single gene.
What should I do if my baby has a birthmark?
Since vascular birthmarks may appear similar and have very different causes and some may be associated with lesions in other areas that are potentially serious your child should be seen by an expert in diagnosis and treatment of these lesions. In addition, some of these lesions are associated with genetic syndromes that are significantly handicapping so the sooner they are known about the more that may be done to help the child. These syndromes require genetic testing and the efforts of a multidisciplinary team of experts acting in an integrated manner for the best outcome for your child.
As a rule the sooner a vascular birthmark is treated the easier it is to take care of and the better the cosmetic outcome overall, so do not wait. With most birthmarks treatment should begin in the first two to three months of life.
If you live in the New York metropolitan area we urge you to contact the Center for Vascular Birthmarks at the New York Head and Neck Institute.