Vascular Malformations
Vascular Malformations
Vascular Malformations are benign vascular lesions that are often mistaken for a “hemangioma.” These lesions are always present at birth, but may not be visible until days, weeks or even years after birth. These lesions occur as commonly in males as in females and do not occur any more or less frequently between races.
Midline venular malformations: commonly called “stork bites and angel kisses”. This type of lesion is present at birth often in the back of the neck, on the forehead, eyelid or even the lip. It appears as a pale red blotch. Most of the time the area will lighten and become less noticeable
Capillary Malformations (CM): (Port Wine Stains) are always present at birth and can range from pale pink to dark purple in color. The exact cause of a CM is not understood. Some evidence suggests that there is a deficient or absent nerve supple to the blood vessels of the affected area. These nerves regulate the contraction or dilation of the vessel. A deficiency will result in over dilation of the vessel and a visible birthmark will be present. Other research has indicated that the Capillary Malformation arises because of abnormal formation of the tiny vessels in the skin during fetal development. A CM may occur anywhere on the body. CM may be treated with the Pulse Dye laser in childhood. It is now suspected that the results will be only temporary since the nerve supply is the deficient area. Doctors can compensate for this by treating the area at the first sign of reoccurrence.
Since CM is may be progressive disorder, children should begin treatment early in life. Early laser treatments can prevent a cobbling and thickening of the skin and a darkening of the PWS. Examination of adults with PWS reveals that those who have had no treatment often experience darkening and thickening of the area since childhood.
Sturge Weber Syndrome is seen in patients with a large CM of the face that does not cross the midline; an eye is involved as well as the covering of the brain. Patients with this pattern of CM should be evaluated for Sturge Weber Syndrome. Early diagnosis is important for optimal treatment outcomes. NOVA coordinates with The Sturge Weber Foundation to provide information and assistance to individual diagnosed with SWF. For more information contact NOVA.
Cutis Marmorata Telangiectatica Congenita is a congenital disorder known as CMTC. This disorder is uncommon and consists of symptoms including a persistent marbled look to the skin along with chronic dilation of blood vessels, varicosities of veins, ulceration of the skin and atrophy of the skin. CMTC is seen to occur in association with Sturge Weber Syndrome and Klippel Trenaunay Syndrome. Approximately 50% of patients have one or more other congenital abnormalities. There is no known racial predilection; the disorder affects slightly more females then males. CMTC is generally present at birth. The cause appears to be multifactorial, including genetic, viral, geography and due to fetal development. No treatment is needed unless there are associated anomalies that require medical intervention. Often the skin lesions improve by 2 years of age.
Hereditary Hemorrhagic Telangiectasia (HHT): Is another genetic disorder. It is also known as Rendu-Olser-Weber Syndrome. It occurs in 1 of 5,000 people world wide. It is males and females equally. HHT causes significant abnormalities in blood vessels. Most of the vessels are normal but in the abnormal vessels there is a lack of a capillary between the arterial and venous side of circulation. These results in something minor called a telangiectasisa or major called a arteriovenous malformation (AVM). The abnormalities cause bleeding. Most of the abnormalities involve the mucous membranes of the mouth, nose, and GI tract. Nosebleed are common. GI bleeding may also occur. HHT has the potential for life threatening complications. The HHT Foundation is an excellent resource for individuals diagnosed with this disorder.
Venous Malformations is an abnormality of the larger, deep vessels and often appears very similar to a deep hemangioma. VM is the most common type of vascular malformation. A VM is always present at birth but are not always evident. They may first become noticeable in childhood or even adulthood. Most VM appear in the skin. Venous Malformations are commonly found in the cheek, tongue, lip and jaw. They may be present in deep tissue, bone, muscle or any other organ. They are found in the liver, gastrointestinal tract and spleen. There is an incidence in the brain of about 0.5%.
Venous Malformations appear dark blue and are most often very soft. They grow over the life of the individual. Unlike a hemangioma a VM will not experience the prolific growth phase and they never spontaneously regress/involute. Serious illness, trauma, infection and hormone changes of puberty and pregnancy are associated with growth of the lesions.
A VM will grow over the life of the individual, however; sometimes there is a sudden enlargement noted. This is often due to a clot within the vessels of the VM. Injury, Pregnancy, Puberty or in women taking birth control may result in an enlargement of the VM. The enlargement can result in symptoms of pain. Clot formation in a VM is serious and should be evaluated by a physician.
A VM can be treated by a procedure known as sclerotherapy. Scelerotherapy is done by injecting a small amount of a solution to the vessels. The solution irritates the lining of the vessel and causes the vessel to close off due to inflammation. Sclerotherapy may be done alone or combined with surgery. Only small VM can be treated successfully with laser. Only an experienced interventional radiologist should perform scelerotherapy of a VM.
Glomovenous Malformation GVM:
A GVM is a type of vascular malformation that is comprised of abnormal blood vessels and abnormal skin cells known as glomus cells. Glomus cells are found in the skin and are known to help regulate temperature. In response to cold glomus cells regulate blood away from the skin surface and direct it to the internal organs to keep the body warm. In response to heat, glomus cells increase the blood supply to the skin so the internal body temperature does not rise too high. A GVM may appear anywhere on the skin. They occur both in singular lesions and in multiple occurrences. Some are apparent at birth while others appear later in life. They do not occur on internal organs but may develop in the muscles. A GVM first appears as a light pink or blue patch. In time they will thicken and darken in color. As blood flow through the malformation increases they may swell. Many parents notice this change in size when a child cries. They may also swell in hot weather. GVM does not blanch or lighten in color when pressure is applied. They are often associated with significant pain. Pain may occur if the lesion is bumped or when there are extreme changes in temperature. Pain may be managed under the direction of a physician with over the counter pain medications. A GVM is often mistaken for other types of vascular malformations. To accurately diagnose as GVM a skin biopsy is needed to confirm the presence of glomus cells. MRI is used to determine the extent of the anomaly. Exactly how a GVM develops is unknown. Research suggests that multiple GVM is inherited from an abnormal gene of one parent. (autosomal dominant trait) This is known as a glomulin gene defect. The gene affected is located on the chromosome number 1 in the short arm or p of the chromosome. (1p). As with all vascular anomalies scientific developments are leading to improved diagnosis and treatment of GVM. There are various options to treat GVM. Treatment is often considered for management of symptoms of pain or bleeding. Treatment depends on size, location and the number of lesions. One option is to surgically excise the lesion but this is reserved for singular, small lesions. Laser has been shown to be effective in reducing the size of GVM. Laser light energy is directed to the anomaly causing the affected vessels to shrink in size. Sclerotherapy is also used to block blood flow through the affected vessels. Sclerotherapy is a highly effective method for treating GVM. However; with both laser and sclerotherapy GVM is likely to reoccur. Medical management with steroids and drugs that are toxic to the glomus cells have been used in some patients. More research into the effectiveness of medical management is ongoing.
Arteriovenous Malformations (AVM): An AVM is formed when there are abnormal connections between the arterial and venous side of circulation. AVM is present at birth. They are common in the brain but may be found anywhere. The exact cause is unknown. It is believed that the abnormality occurs early in fetal development. (5-6 week gestationally) There are many complications associated with AVM and all individual suspected of a AVM should be evaluated by a vascular anomaly team.
Lymphatic Malformations commonly called cystic -hygroma, hemangiolymphangioma, or lymphangiomas. The lymphatic system is a collection and transfer. system for fluid in the body’s tissue. Abnormally developed lymphatic channels result in excess fluid accumulation in both the tissue and the vessels themselves. When the vessels involved are close to the surface of the skin there will be a prominent enlargement of the area. If the face is involved the face will swell and become disfigured. If it occurs in the mouth or tongue it can interfere with eating and breathing. (lesions in the tongue are often describe as appearing as small papules or frog eggs) They may enlarge following an upper respiratory infection. These lesions may occur anywhere but are most common in the head and neck. Lymphatic Malformations increase or grow with the patient. They are difficult to treat.
Arteriovenous Malformations (AVM) are always present at birth but are usually not noticed until later in life. Abnormal blood flow is associated with these lesions. As the lesion ages, the vessels enlarge and thicken to compensate for the increased blood supply. There are two major types: Low Grade AVM and High Grade AVM. A Low Flow AVM will grow slowly with the child and H High Flow AVM will expand rapidly, growing faster than the child until the lesion may eventually become life threatening. Because blood flow can be affected and shunted away from normal flow patterns treatment is usually necessary. An AV malformation feels like a firm mass and does not compress easily. Common sites are the lips and other head and neck areas.
A vascular malformation may form in combination of any of the above vessels these are called Mixed Malformations.
THE NATIONAL ORGANIZATION OF VASCULAR ANOMALEIS PROVIDES THIS INFORMATION TO FAMILIES AS A RESOURCE. IT IS NOT INTENDED TO ENGAGE IN THE PRACTICE OF MEDICINE OR TO REPLACE THE PHYSICIAN. NOVA DOES NOT CLAIM TO HAVE MEDICAL KNOWLEDGE. NOVA DOES NOT ENDORSE ANY PARTICULAR PHYSICIAN, TREATING FACILITY OR TREATMENT PROTOCAL. IN ALL CASES NOVA AND ITS BOARD OF DIRECTORS RECOMMENDS THAT YOU SEEK THE OPINION OF A PHYSICIAN EXPERIENCED IN THE MANAGEMENT OF HEMANGIOMAS AND VASCULAR MALFORMATIONS.
revised 1/19/2010
