CMTC or ‘van Lohuizen syndrome’
What is CMTC
Cutis marmorata telangiectatica congenita (CMTC) is a rare disorder that is present from birth and is characterized by discoloured patches of skin caused by widened (dilated) surface blood vessels.
As a result, the skin has a purple or blue “marbled” or “fishnet” appearance (cutis marmorata). Cutis marmorata means marbled skin. Telangiectatica relates to the abnormal blood vessels and congenita to its congenital nature.
The disorder was first described by the Dutch pediatrician Cato van Lohuizen around 1920. Thus CMTC is also called the ‘Van Lohuizen syndrome’.
As a rule, only a part of the skin is affected and the distribution throughout the body is asymmetric, which means that one side is affected more than the other. CMTC affects males and females in equal numbers. A marbled skin as seen at CMTC, can also occur in newborns or under the influence of external factors such as cold. An important difference is that with CMTC the marbling is present all the time. The skin symptoms associated with classical CMTC improve with age and usually disappear completely around puberty. Unfortunately this does not always happen.
Little is known about the heredity of CMTC. Most people with CMTC are the only ones in their family. There are very few reports in the literature of children who, like their parents have CMTC or have siblings with the disease.
From the literature it can be concluded that the likelihood of recurrence of CMTC in a subsequent child is very low. It is uncertain whether this risk is also low for the children of the patient.
It is thought that CMTC is a form of genetic mosaicism. This means that only certain cells and / or tissue have an abnormality (mutation) in the DNA. Mosaicism occurs after fertilization in the embryo. Sometimes in one of the cells a spontaneous mutation occurs in the embryo. That mutation is then passed to all of the cells that derive from this cell. But all other cells, which derive from a normal cell will not have the abnormality. Therefore the mutations are only present in the affected tissue (such as CMTC).