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THE BECAUSE I CARE FOUNDATION, INC.
| BECAUSE I CARE FOUNDATION |
| BECAUSE I CARE FOUNDATION |
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Lymphatic and Vascular Malformations
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can begin to help families affected by
Lymphatic and Vascular Malformations
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| HEMANGIOMA Hemangiomas are strawberry colored birthmarks that vary from extremely tiny to extremely large. These birthmarks can be very devastating to an individual's self-esteem because of how deforming they can be. Hemangioma's could cause different health problems as well depending on it's location such as vision obstruction, or problems with eating, breathing, hearing, etc. Some hemangioma's can be left alone such as the smaller one's or those that are hidden under clothing. Other's may require aggressive treatment by a specialist such as a dermatologist or plastic surgeon. Most hemangioma's are not present at birth but appear around the first four weeks of life. Hemangioma's develop in different surfaces of the body. Those that develop in the dermis are considered superficial and commonly grow significantly. Those that are developed in the subcutaneous layer are bluish in color. Because of their color, doctor's call them "cavernous hemangioma's" (when it may actually be their deeper location that is giving them their color). Some grow internally and may affect areas such as the airway or major organs. At some point, usually around the child's first birthday, the birthmark will stop growing and then slowly begin it's regression process which takes a few years to complete. Sometimes, the regression will cause facial distortion, really bad scarring, and might leave the skin loose from when the hemangioma was at it's largest. Treatments include steroid therapy, laser therapy, or surgery. 6/28/04 PORT WINE STAINS Port-Wine Stains are often misdiagnosed as hemangioma's. The difference is that unlike hemangioma's, these birthmarks do not proliferate. Port-Wine Stains appears to grow only because of the capillary vessels dilating. There's also no regression in these....they never go away. The color of this birthmark can vary from a light pink to a very dark red, almost violet and can gradually darken with age. These stains only occur in around 0.5% of babies and are sometimes mistaken for stork bites and angel kisses (both of which are only minor blood vessel dilations....not true port-wine stains). Diagnosis is made by physical examination. At different stages, the birthmark will also change in texture in addition to color. The skin will go from smooth to thickened and pebbled. Sometimes bleeding can occur from the location of these birthmarks as well. Treatment of port-wine stains are done by laser. After multiple treatments most stains can be dramatically lightened if not completely removed. 6/28/04 KLIPPEL TRENAUNAY SYNDROME (KTS/KTWS) Klippel-Trenaunay Syndrome (KTS), named after French doctor's Klippel and Trenaunay, is a congenital malformation that has three main symptoms known as the triad consisting of varicose veins, cutaneous hemangioma, and hypertrophy of the soft tissue and bone. Usually, there are numerous varicose veins that stand out pretty well. The veins result from damaged valves. Cutaneous hemangioma's vary in size and shape and the bone and soft tissue hypertrophy varies and can be quite different from the opposite, unaffected side. Another nearly identical condition is Klippel-Trenaunay-Weber Syndrome (KTWS) this form of KTS is exactly the same but includes an arteriovenous fistula. Treatment for KTS and KTWS is difficult and varies in each individual’s case. In some severe cases, amputation may be the only option. Sclerotherapy could possibly be used for the varicose veins. Other treatment options include compression therapy and laser therapy for port wine stains. 6/28/04 KASABACH-MERRITT SYNDROME KMS is a congenital, life threatening condition that involves one of two types of vascular tumors (either kaposiform hemangioendothelioma or tufted angioma). This rare condition causes platelets, which is vital for blood clotting to occur, to be destroyed. KMS can also be associated with other abnormalities that cause an over consumption of clotting. KMS has been said to not occur in children with infantile hemangiomas although various authors may believe otherwise. KMS patients due tend to have a firm, yet warm birthmark that is typically purple in color. The tumors occur shortly after birth and can appear anywhere on the body although they are common in the extremities. KMS tumors may also involve internal organs. There is no genetic connection with KMS and it is found equally in males and females. Symptoms of KMS include low levels of platelets found in the blood, pain in the affected skin, and ulceration on the affected skin. Low platelet levels, also known as thrombocytopenia can be life threatening because any injury to the body can cause very excessive bleeding. Patients with KMS who are found to have low platelet levels are often admitted to the hospital for treatments such as platelet transfusions. The tumor(s) may be treated with various medications such as corticosteroids or even removed by surgery if it is small enough to be taken out. Children who are treated early for KMS have a much better prognosis than those whose KMS are left untreated. Untreated KMS patients have a mortality rate of up to 37% mainly due to bleeding complications. Parents are typically informed on the possible complications including high cardiac output and possible failure with larger tumors. 7/31/07 VENOUS MALFORMATIONS Venous Malformations are malformations of abnormally formed and dilated veins that are either superficial or deep within the body. Venous malformations are usually slow in growth, but certain traumatic incidents that occur in life, such as puberty, or surgery, may cause an increased speed in growth. These lesions are often present at birth and can affect any internal or external body part, or function. It is believed that the abnormality stems from a deficiency in the smooth muscle cells in the vein walls. The color of these lesions depend on how superficial or deep they are. A superficial lesion may be a maroon or reddish color whereas a deeper one may be blue. Very deep lesions will not show a color, but will form a mass at the surface of the skin. Venous lesions are soft to the touch. These lesions can be treated by laser, but most likely only on the smaller malformations. Other than laser treatments, sclerotherapy and surgery are options for treating this condition. 6/28/04 ARTERIOVENOUS MALFORMATIONS Arteriovenous Malformations are localized or diffuse lesions that are missing the network of capillary beds between arteries and veins. Localized lesions appear at birth as light vascular stains that usually enlarge in early childhood or adolescence. Diffuse lesions, however, grow with age. Both can occur anywhere on or in the body and , depending on how fast they grow, may be symptom less at first. AVM's are thought to be caused by errors in the development of the arterial-capillary-venous connections that take place during the embryonic stage. AVM's typically don't have any certain look, as there are wide variations of sizes, lengths, number of AVM's in the body, and rates of growth. When there is soft tissue involved, a bluish color may appear during infancy and gradually turn a darker red or purple and form a firm mass. Sometimes, blood can be felt pulsating as it goes through the vessels if you touch the lesion. AVM's can be diagnosed a few ways. One very simple way is by feeling for warmth over a lesion or by placing a stethoscope on it and listening for the sound of blood flowing through the vessels. Determining the full extent of the AVM is done by getting an MRI or angiography. The location of an AVM determines what types of complications may occur. Intra cranial lesions can cause headaches , brain bleeds, or other neurological problems. In other areas, problems such as ulcerations, bleeding, or pain could result. In very extensive malformations, major cardiac output could result in heart failure. Treatment of AVM's include observation, surgical intervention, or embolization. 6/28/04 LYMPHATIC MALFORMATIONS Lymphatic Malformations are slow flowing lesions that are usually apparent in young children. They can appear in many different forms, from small localized lesions, to much larger lesions that can involve an extremity or other major body part or organ. LM's (also known as Cystic Hygroma's or Lymhangioma's) can occur anywhere in the body, but are most common in the face and axillary (armpit) region. Lymphatic Malformations are classified as macrocystic and microcystic, but can both appear on a person (mixed). They occur early in embryonic life, usually around the fifth or sixth week, and is believed to be caused by an error in the development of the lymphatic channels in parts of the body. They cause localized swelling and can even cause enlargement of the soft tissues and/or bones. There is no known reason for why this malformation develops, but it is known that it is from nothing that the mother has done or consumed. Swelling that occurs due to trapped tissue fluid is called Lymphadema and may also be caused by a form of lymphatic malformation. LM's can cause unavoidable, painful complications such as intense swelling due to viral or bacterial infections. Some complications, however, are more preventable....depending on the location of the malformation. For example, those who have LM's in the head and neck region are less likely to have problems if they practice healthy oral hygiene, and if middle ear infections occur it is essential to get immediate medical attention. Some complications are harder to deal with. In some children, constant infections occur and others may have bleeding problems. LM's in the thoracic region can have lymph fluid to leak into the chest cavity (chylothorax) as well as cause cardiac and lung complications. Malformations affecting the trachea can cause difficulty breathing, sometimes tubing that helps breathing is necessary. Diagnosing a person with having a lymphatic Malformation could be simple if an experienced physician is doing the diagnosing. However, that's not always the case. LM's quite often, are misdiagnosed as being other (although sometimes similar) conditions. Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) scans with contrast enhancements are used to confirm the diagnosis. LM's can detected by ultrasound before birth. 6/28/04 PROTEUS SYNDROME Proteus Syndrome is a congenital disorder that involves atypical growth of other body parts. The name is for the Greek God Proteus 'the polymorphus" because of the various manifestations in the first identified individuals with the disorder. The syndrome affects both sexes equally and has no particular racial, geographical, or ethnic distribution. Common signs of the condition include asymmetric, partial enlargement of the hands or feet, darkened and raised skin, lymphangioma's, and occasionally lipoma's. Other symptoms are anomalies of the skull, being either asymmetric due to hemihypertrophy (one sided enlargement) or a larger than normal head (macrocephaly). 6/27/04 STURGE WEBER SYNDROME Sturge-Weber Syndrome is a Congenital malformation caused by the presence of a facial birthmark known as a port-wine stain, and neurological abnormalities. The cause is due to excessive growth of dilated vessels over a section of the brain. SWS is not hereditary, and is not caused by anything that the mother has done or consumed during her pregnancy. Symptoms of SWS, besides the facial birthmark, include seizures, delayed motor and cognitive skills, glaucoma, and headaches or migraines. The birthmark usually extends from the eyelid to the upper lip. The surface is flat and varies in color. Unfortunately, there is no cure for SWS. However, laser treatment can help lighten or even remove the discoloration. Since most individuals with SWS suffer with seizures, anticonvulsants may be given. Glaucoma in SWS patients is treated with surgery or eye drops. 6/27/04 OSLER WEBER RENDU SYNDROME Also commonly known as Hereditary Hemorrhagic Telangiectasia (HHT), this genetic condition affects about 1 in 5,000 people. It is a disorder where the affected person forms blood vessels that do not contain capillaries between the artery and vein. This causes high pressure arterial blood to flow directly into the vein. The location in the vessel where the artery meets the vein is typically very fragile and can rupture. The smaller vessels that are abnormal in this way are called telangiectasia. However, when the larger vessels are abnormal, it is referred to as an AVM (arteriovenous malformation). HHT occurs at the surface of the skin in areas such as on the face, hands, in the mouth, and lining of the nose, commonly causing nosebleeds. AVM’s occur in the internal organs which, can be more dangerous. This disorder can also appear on the lining of the GI tract, lungs, brain, and liver. Complications of HHT in addition to nosebleeds include anemia due to internal bleeds, and possible liver or heart failure. When HHT is discovered in a patient, screening for lung and brain AVM’s is done and can be treated before symptoms or problems arise. Treatments for HHT include embolization for severe bleeds from AVM’s, laser therapy for surface bleeds, iron replacement therapy for anemic patients, and radiosurgery for brain AVM’s. Individuals who have, or suspect that they have HHT should undergo screening to ensure that serious problems can be avoided. 8/01/07 C.M.T.C Cutis Marmorata Telangiectatica congenita, also known as CMTC, is a rare congenital malformation that can also be associated with other rare malformations such as Klippel Trenaunay Syndrome. CMTC appears to have a severe marble-like pattern on the skin. The pattern may appear on various parts of the body and can either be localized or distributed over a large surface of the skin. The cause of CMTC is unknown and may possibly be genetic although this is not commonly seen in more than one family member. It is not due to any activities or exposures to either the mother or fetus during pregnancy. Due to the fact that CMTC may be associated with other malformations and vascular conditions, patients may also have hypertrophy of extremities (overgrowth), dental problems, glaucoma, and vascular birthmarks or hemangiomas. No special treatment is necessary for patients with CMTC because over time the skin pattern will fade. However, if it is associated with other conditions, treatments in regards to those malformations may be required. 8/01/07 |
Because I Care Foundation, Inc. (c) 2004-2008. All rights reserved. Sharon
Freeman Founder/Executive Director. Tempe, Arizona
DISCLAIMER: All information provided on this website is not in substitution of
seeking guidance from your doctor or specialist. This site is an educational
resource to gain further knowledge into these conditions as well as find support
and advocacy as needed. Topics and information contained were studied
thoroughly and written by our Executive Director. Although the director is very
knowledgeable on these conditions, she is not a licensed physician.
Site Updated 07/21/2008
Freeman Founder/Executive Director. Tempe, Arizona
DISCLAIMER: All information provided on this website is not in substitution of
seeking guidance from your doctor or specialist. This site is an educational
resource to gain further knowledge into these conditions as well as find support
and advocacy as needed. Topics and information contained were studied
thoroughly and written by our Executive Director. Although the director is very
knowledgeable on these conditions, she is not a licensed physician.
Site Updated 07/21/2008
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