No, it is a coincidence if a child has CMTC.
My child has a CMTC spot on her knee. If she fell on it and the wound bled, it seems to take a long time for the knee to heal. Is this normal?
This is normal. Healing of wounds in areas where CMTC is present can take a long time.
The best thing to do is an ultrasound scan to see if there are embryonic veins. An MRI is not really necessary for the diagnosis but can be used to see how the veins and arteries have developed. The patient’s complaints can then possibly be better explained and a certain therapy can be better decided.
As far as is known, CMTC is not hereditary.
We know parents with CMTC who have children without CMTC.
Blood vessels can be divided into the vessels that go to your heart (vein) and those that go away from your heart (artery) and then there are also the lymphatic vessels. In vascular malformations, something goes wrong in one of these three vessels. The name of the malformation is linked to the type of vessel where the malformation occurs. For example, a lymphatic venous malformation or vascular malformation with a capillary part (the small vessels in the skin).
The deeper layers of the skin and the vessels come from the same part of the embryo. The early embryo consists of three layers: ectoderm, mesoderm, endoderm.
CMTC can cause the body to develop asymmetrically.
Can the body develop asymmetrically, especially in the length direction (so one half of the body develops differently than the other)?
What can be done about this?
Yes, it is possible but rare and is called Hemihypertrophy .
In certain cases this may be related to the complication of primary lymphedema.
Primary lymphedema is a disorder of the lymphatic vessels that regulate the fluid balance in the body. In primary lymphedema, there are too few lymphatic vessels that ensure that the fluid in the body is drained properly. As a result, one side of the body can be thicker than the other side.
When should something be done if the leg lengths differ?
In the Netherlands, the guideline is that physical intervention is only carried out when the leg length difference is greater than 3 centimetres. It should be noted that the age of the patient also plays an important role in the intervention.
Can asymmetry also develop later in life.
Normally only during growth.
I have CMTC as a woman and want to use the contraceptive pill. Is this possible?
If you have varicose veins, there is a risk of thrombosis. Discuss this with your GP.
This is not recommended because of the risk of thrombosis (blood clots in the bloodstream which can cause, for example, a stroke or heart attack).
In itself this is not a problem as long as a good sunscreen is used with a factor of at least 15.
My child is afraid of an injection.
This fear can arise from the pain caused by the injection, especially the phase when the skin is pierced. A possible solution is to numb the skin. The cream ‘Emla’ can be used for this. This cream is also called ‘magic ointment’. You can also use this term when you explain to your child that he or she will feel little or nothing.
Any use of laser to treat CMTC spots should be done with care.
In certain cases, laser treatment of certain areas will have little or no effect. The use of laser in children may require the child to be put under anesthesia, mainly to prevent panic and to ensure that the child remains still. Putting children under anesthesia several times a year is also undesirable from both a physical and mental point of view.
CMTC is the abbreviation for the Latin name Cutis Marmorata Telangiectatica Congenita.
Translated into Dutch this means: congenital (congenita) abnormal blood vessels (telangiectatica) that are visible as a marbled skin (cutis marmorata).
The other name for this condition is: Van Lohuizen syndrome. The Dutch pediatrician Van Lohuizen was the first to describe the syndrome, in 1922. Internationally, both the names Van Lohuizen Syndrome and CMTC are in use.
People with CMTC have in common that part of their skin is marbled. Usually it concerns one or more limbs, sometimes the trunk and only rarely the face. Furthermore, it is a disease that is not limited to the skin, because the condition can be accompanied by abnormalities in other tissues: bones that are too thin, too thick or too short; thin muscles and brain abnormalities sometimes occur. CMTC can also (in a limited number of cases) occur in the context of syndromes, in which case it is a symptom.
It is suspected that CMTC is caused by an error in cell division in the unborn fetus.
Every new life starts as a clump of cells, which grows into an embryo. In an embryo, a number of germ layers can be distinguished and the cells of these germ layers later grow into the variety of organs and tissues that we consist of. When the error occurs in the germ layer called the mesoderm, then there is a chance that all tissues and organs that develop from this germ layer are affected. In that case, in addition to the skin, the bones and muscles can also show abnormalities.
When the genetic defect occurs relatively late in pregnancy, only the skin is affected. The fact that the abnormalities often occur on one side of the body supports the development theory.
Abnormal coverage of blood vessels by contractile cells can cause blood vessel abnormalities.
In CMTC, the skin has a purple or blue “marbled” or “fishnet” appearance due to dilated (widened) surface blood vessels.
What causes these dilated blood vessels in CMTC (or other related conditions)?
Dr Millan Patel and fellow researchers believe that abnormal covering of blood vessels by a type of cell called a pericyte may be the cause of the blood vessel abnormalities seen in Adams Oliver syndrome (AOS). AOS patients share similarities with CMTC patients (more than 20% of AOS have CMTC) and so this mechanism may also apply to CMTC.
What are Pericytes
Pericytes are contractile cells that wrap around the endothelial cells that line the inner surface of blood vessels throughout the body.
Adams-Oliver syndrome
The scientists examined two children with Adams-Oliver syndrome (AOS). AOS patients have congenital scalp abnormalities with abnormalities of several limbs. In addition, the cardiovascular system is affected most often, (almost 20% of patients have congenital heart defects) and at least 21% of patients have CMTC. In addition to these congenital features, abnormally high blood pressure (pulmonary hypertension (PH)) has been recognized as an important complication of AOS in children.
The two children had AOS plus additional abnormalities including retarded growth in the womb, CMTC, abnormally high blood pressure in the lungs (pulmonary hypertension (PH)), bleeding in the brain. Both developed PH in childhood, which ultimately resulted in their deaths.
Autopsy of one of the children revealed abnormal vascular smooth muscle cell/pericyte coverage of the vasculature. In the absence of pericytes on blood vessels, vasodilation occurred, while in the presence of an overcoverage of pericytes on blood vessels, vasoconstriction (stenosis) occurred. The abnormal coverage of pericytes was found in multiple organs including the lungs, skin, diaphragm and mesentery.
The researchers believe that the abnormal covering of pericytes over blood vessels is the underlying disease mechanism of AOS. Previous research in mice has shown that pericytes play an important role in the development of blood vessels. If they are absent, all kinds of vascular abnormalities occur.
Source: Abnormal Pericyte Recruitment as a Cause for Pulmonary Hypertension in Adams–Oliver Syndrome , Millan S. Patel, Glenn P. Taylor, Simi Bharya, Nouriya Al-Sanna’a, Ian Adatia, David Chitayat, ME Suzanne Lewis, and Derek G. Human, American Journal of Medical Genetics 129A:294–299 (2004)
Both mean the same thing. Hemihypertrophy is a unilateral growth abnormality of one or more parts (e.g. skin or bone) of the body. This may be caused by a genetic abnormality or something in the environment.
The laser can achieve a number of things, but the beam does not penetrate very deeply into the skin. This means that the laser can do its work up to about a millimeter deep into the skin. Affected vessels in the surface of the skin can be treated so that they become less visible. If a condition is deeper, treatment with the laser is pointless. New types of lasers are being developed that may give better results. Sometimes the pulsed dye laser is combined with a CO2 laser (penetrates slightly deeper into the skin) to treat underlying layers.
All parts of the body can be treated with lasers, but the best results can be achieved in the face because the skin on the face is thinner. Incidentally, not all insurance companies reimburse the treatment of other parts of the body than the face.
For more information, visit https://www.cmtc.nl/pedia/cmtc/laserbehandeling/
Cutis marmorata (literally: marbled skin) occurs in about 50% of children and is usually seen during childhood. It can also occur in adults.
The mottled appearance of cutis marmorata is caused by superficial small blood vessels in the skin that dilate and contract at the same time. The dilation causes the red color of the skin, while the contraction gives a pale impression. This phenomenon is most pronounced when the skin has cooled. The contraction and dilation is regulated by nerves. This regulation is not yet optimal, especially in neonates (newborns). This improves and/or disappears with age.
CMTC is a vascular anomaly that is present from birth. The skin is marbled but this does not go away when warmed up. Often the spots do fade as the child gets older. In general, a distinction can be made between the classic CMTC form and the more common form. The classic form is more severe: more ulcers occur than with the common form.
MCAP (megalencephaly-capillary malformation syndrome) previously known as M-CM (macrocephaly-capillary malformation) is a completely different disease than CMTC. MCAP patients often have a port wine stain. In addition, they have an enlarged head. Multiple complications can occur, such as neurological problems and abnormalities of the limbs. Epilepsy is also possible. It is somewhat similar to Sturge-Weber Syndrome, but is still different.
Vascular malformations are usually mosaic disorders. This means that the disorder only occurs in limited places in the body. This is because in the early stages of the embryo, only certain cells had an error (mutation) and not others. The cells that originated from a cell with an error also have the error themselves. If the error were to occur in all cells, this would often not be compatible with life.
Sclerotherapy involves injecting a fluid (sclerosant) into the vascular malformation. This fluid causes the malformation to form a scar from the inside and shrink. This often makes the malformation smaller.
In some cases, it is not possible to treat the malformation with sclerotherapy and/or embolization. For example, if the malformation is located near important organs, this can make treatment more difficult. (Go to: https://www.cmtc.nl/pedia/ovm/behandeling-vascular-malformaties-met-interventieradiologie/
For advice, see a specialist in this field.
Laser treatment of CMTC spots in young infants is not recommended.
Residual injuries/damage can be treated from the age of 7.
Possible complications:
EARLY
LEAVE
For example, CMTC may resemble conditions such as Klippel-Trenaunay Syndrome or Sturge-Weber Syndrome.
It is also possible for people to have both CMTC and Klippel Trenaunay, for example.
CMTC can occur in many places on the body.
Here is an overview of which actions could possibly be performed per part of the body.
In this case there is a chance of glaucoma (increased eye pressure which can result in blindness) and brain abnormalities. In the latter case an MRI scan is recommended.
Normally no action is required here.
Have your ears inspected regularly by an ENT specialist and, if necessary, have a hearing test performed.
Have a dentist regularly determine how your teeth are developing.
Normally no action is required here.
Normally no action is required here.
In this case, the legs can develop asymmetrically in both length and circumference. The greatest deviations usually occur at a young age. During physical development, the spots usually become less visible in intensity.
In the case of other syndromes in combination with CMTC, it is advisable to determine by means of echography (ultrasound) to what extent internal organs such as the liver, kidneys, heart and lungs show abnormalities. If abnormalities are found, an MRI scan can be used to visualize the abnormalities properly.
Are there other/more risks as you get older – for example the risk of inflammation (although I haven’t had any problems with this so far) or the risk of a weakened leg?
It is advisable for older patients (>25 years) with vascular malformations to have regular check-ups because they may have a higher risk of complications such as inflammation, thrombophlebitis (inflammation of the veins), cellulitis, bacterial inflammation of the leg. Oedema can cause inflammation. It is therefore important to prevent oedema.
Risk of a weakened leg? This is usually already present at a younger age. It depends on the type of malformation, but we do not often see this occurring later. People with one leg that is narrower than the other do not necessarily have less muscle. They sometimes have less fatty tissue.
Blood vessels can be divided into the vessels that go to your heart (vein) and those that go away from your heart (artery) and then there are also the lymphatic vessels. In vascular malformations, something goes wrong in one of these three vessels. The name of the malformation is linked to the type of vessel where the malformation occurs. For example, a lymphatic venous malformation or vascular malformation with a capillary part (the small vessels in the skin).
The deeper layers of the skin and the vessels come from the same part of the embryo. The early embryo consists of three layers: ectoderm, mesoderm, endoderm.
Yes, a vascular malformation can be made less visible with the help of a tattoo. It is a fairly new approach but you see it more and more. What you have to take into account is that the color of your skin can change over the years. In the beginning, the tattoo can have the right color but that may no longer be the case later when the color of your skin has changed a lot. In addition, it can be a problem with vascular malformations that are on top of the skin (high in the skin). It is not advisable to put lines in the vascular malformation in the lesions.
I live far away from the Netherlands. How can I get personal medical advice remotely?
Personal advice remotely is possible. However, for a really good diagnosis and advice, it is best to visit the specialist doctor/expertise center in person. The doctor can then best examine the condition. You can ask your insurer if it is possible to reimburse a visit.
If this is really not possible, we could see if there is a specialist doctor or expert living near you who could make the diagnosis/treatment.
Cutis marmorata (literally: marbled skin) occurs in about 50% of children and is usually seen during childhood. It can also occur in adults.
The mottled appearance of cutis marmorata is caused by superficial small blood vessels in the skin that dilate and contract at the same time. The dilation causes the red color of the skin, while the contraction gives a pale impression. This phenomenon is most pronounced when the skin has cooled. The contraction and dilation is regulated by nerves. This regulation is not yet optimal, especially in neonates (newborns). This improves and/or disappears with age.
CMTC is a vascular anomaly that is present from birth. The skin is marbled but this does not go away when warmed up. Often the spots do fade as the child gets older. In general, a distinction can be made between the classic CMTC form and the more common form. The classic form is more severe: more ulcers occur than with the common form.
MCAP (megalencephaly-capillary malformation syndrome) previously known as M-CM (macrocephaly-capillary malformation) is a completely different disease than CMTC. MCAP patients often have a port wine stain. In addition, they have an enlarged head. Multiple complications can occur, such as neurological problems and abnormalities of the limbs. Epilepsy is also possible. It is somewhat similar to Sturge-Weber Syndrome, but is still different.
Sclerotherapy involves injecting a fluid (sclerosant) into the vascular malformation. This fluid causes the malformation to form a scar from the inside and shrink. This often makes the malformation smaller.
In some cases, it is not possible to treat the malformation with sclerotherapy and/or embolization. For example, if the malformation is located near important organs, this can make treatment more difficult. (Go to: https://www.cmtc.nl/pedia/ovm/behandeling-vascular-malformaties-met-interventieradiologie/
For advice, see a specialist in this field.
Are there other/more risks as you get older – for example the risk of inflammation (although I haven’t had any problems with this so far) or the risk of a weakened leg?
It is advisable for older patients (>25 years) with vascular malformations to have regular check-ups because they may have a higher risk of complications such as inflammation, thrombophlebitis (inflammation of the veins), cellulitis, bacterial inflammation of the leg. Oedema can cause inflammation. It is therefore important to prevent oedema.
Risk of a weakened leg? This is usually already present at a younger age. It depends on the type of malformation, but we do not often see this occurring later. People with one leg that is narrower than the other do not necessarily have less muscle. They sometimes have less fatty tissue.
