About
Cutis marmorata telangiectatica congenita (CMTC) is a rare skin condition which was first described by the Dutch pediatrician 'van Lohuizen' around 1920 (thus, CMTC is sometimes referred to as 'van Lohuizen syndrome').
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What is CMTC actually?
CMTC is the acronym for the Latin name Cutis Marmorata Telangiectatica Congenita. Translated into English this means a birth defect affecting the blood vessels that is visible as areas of marbled skin. The alternative name for this condition is Van Lohuizen syndrome. The Dutch paediatrician Van Lohuizen first described the syndrome in 1922. Internationally, both the names CMTC and Van Lohuizen Syndrome are in use. People affected by CMTC have in common that one or more areas of their skin are marbled. Generally this affects the limbs, sometimes the torso and less frequently the face. The condition is not limited to the skin however as this can also occur with defects in other tissues: too thin, too thick or too short bones; thin muscles and also some level of intellectual disability can be present. CMTC can also occur in the context of other syndromes, in which case it is itself a symptom
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Is CMTC life threatening?
CMTC is not life threatening. In fact, as far as is known to date 5 children have died from complications which can occur with certain syndromes in combination with CMTC. These then concerned the presence of syndromal CMTC.
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What is the cause of CMTC?
It is thought that CMTC comes about through a fault during cell division in the unborn embryo. Each new life starts as a ball of cells that grows into an embryo. In an embryo a number of distinct layers can be identified and the cells of each of these layers later develop into the varied multiplicity of organs and tissues from which we exist. When a fault occurs in the layer known as the mesoderm then there is a chance that all tissues and organs that develop from this layer are affected. So aside from the skin, bones and muscles can also display abnormalities. When the genetic fault develops relatively late in pregnancy then only the skin will be affected. The fact that abnormalities frequently only occur on one side of the body supports this theory as to the cause.
Brief description
Introduction
Cutis marmorata telangiectatica congenita (CMTC) is a rare skin condition which was first described by the Dutch pediatrician 'van Lohuizen' around 1920 (thus, CMTC is sometimes referred to as 'van Lohuizen syndrome').
CMTC is a condition in which dilated blood vessels can be seen through the skin. "Cutis marmorata" means marbled skin. "Telangiectatica" refers to abnormal blood vessels and "congenita" to its congenital nature.
As a rule, only a part of the skin is affected and the distribution throughout the body is asymmetric; that is to say that one side is affected more than the other. The disease seems to occur more frequently in girls than in boys. The cause is unknown. Marbled skin conditions like CMTC may also occur in newborn children or as a result of other external factors (e.g., cold). An important difference with CMTC is that the marbling is continuously present; however, over time it is clearly reduced. Unfortunately, this is not always the case.
Heredity
Little is known regarding the inheritance of CMTC. Most people with CMTC are the only members in their family to have it. There are very few reports in literature of parents who like their children have CMTC, or of brothers and sisters with the condition.
The literature suggests that in any case the chance of recurrence of CMTC with another child is very low. The risk for the children of the patient is unknown.