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.
Unlike hemangiomas, vascular malformations do not have a one to two year growth cycle and then a long regression cycle. These lesions grow slowly and steadily throughout life and do not spontaneously regress.   This characteristic is often how hemangioma and vascular malformation are differentiated.  Although adults can be left with a scar from an involuted hemangioma of childhood, adults do not experience new growth of a hemangioma, this is a Vascular Malformation.
There are several types of vascular malformations: venular (port wine), venous, lymphatic, arteriovenous and mixed malformations. The diagnosis for the vascular malformation will depend on the vessel affected.

 

Simple Vascular Malformations
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 individuals diagnosed SW   

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.

Nevus Simplex,Salmon Patch, 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

Venous Malformations (VM): 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.

 

Arteriovenous Malformations (AVM): An AVM is formed when there are abnormal connections between the arterial and venous side of circulation. Abnormal blood flow is associated with these lesions. AVM is present at birth. As the lesion ages, the vessels enlarge and thicken to compensate for the increased blood supply.    The exact cause is unknown.  It is believed that the abnormality occurs early in fetal development.  (5-6 week gestationally).  There are two major types of AVM.  Low Grade AVM and High Grade AVM.  This is determined by blood flow through the malformation.  Because flood flow can be shunted away from the normal flow patterns, treatment is often necessary.  An AVM may feel like a firm mass under the skin and does not compress easily.  Commons sites are the lips, head and neck areas but they may be found anywhere.   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.

Cavernous Angiomia:  Also known as Cavernoma, Cavernous Malformation, Cavernous Hemangioma and CCM:  These malformations are abnromally formed blood vessles that have the appearance of a small “mulberry” in the brain or the spinal cord.  The leakage of blood from these malformations may result in signficant blood loss.  CM may enlarge slowly as a result of repeated small “bleeds” or hemorrhages.  Seizures may also occur when the maformation is in the surface layer of the brain.  NOVA coordinates with the Angioma Alliance to assist individuals with CM. 


Mixed or Combined Malformations:  Sometimes vascular malformations form in a combination of two or more types of vessels in one lesion.  These have been called mixed or combined malformations.  Capillary-Venous Malformation (CVM), Capillary-Lymphatic Malformation (CLM), Capillary-Arteriovenous Malformation, (CAVM), Lymphatic-venous Malformation (LVM), Capillary-lymphatic-venous Malformation, (CLAVM), Capillary-venous-arteriovenous malformation (CVAVM), Capillary-lymphatic-venous-arteriovenous malforamtion (CLVAVM)  

Other vascular malformations are named for the major vessels that are involved.  These anomalies affect the lymphatic vessels, venins and arteries.  They are anomalies of origin, course, number, length, diameter (aplasia, hypoplasia, ectasia/aneurysm), valves, communication and persistence (of embryonal vessel).  

Vascular malformations can be associated with other anomalies as in:

Klippel Trenauny Syndrome-CM, VM, LM and Limb Overgrowth.

Parkes Weber Syndrome- CM, AVF, and Limb Overgrowth.  

Sturge Weber Syndrome- facial CM, eye anomalies possible bone and soft tissue over growth.

Maffucci Syndrome- VM and possible spindle cell hemangioima with enchondroma.

Cloves Syndrome- LM, VM, CM and may have lipomatous overgrowth

Proteus Syndrome- CM, VM and may have LM with somatic overgrowth

 

References:

Mulliken, Glowacki J (1982) Hemangioma and Vasdcular Malformation in Infancts and Children.  A Classification based on endothelial cell characteristics.  Plast Surg 69:412-422

Batra, Sachin, Lin, D, Recinos P, Jun Z, Rigamonti D, Caverous Malformations: Natural History, Diagnosis and Treatment,  Http://cme.medscape.com/vieartciel712627, 7/10/2011

Low, David, Hemangioma and Vascular Malformations, Seminars in Pediatric Surgery Vol 3 No 2, May 1994 pp40-61,

Hein KD, Mulliken JB, Kozakewich HP, et al. Venous malformations of skeletal muscle. Plast Reconstr Surg. Dec 2002;110(7):1625-35

2014 ISSVA Conference

 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 4/5/2014

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