Marbled skin: a congenital skin defect

Marbled skin, also called CMCT (Cutis marmorata telangiectatica congenita) or Van Lohuizen syndrome, is a pale skin of islands with purple edges. It is a disease of the blood vessels under the skin. As the name suggests, the skin resembles marble. It is a congenital condition that is quite rare. In some cases it will gradually disappear as the child gets older. What does marbled skin mean, what symptoms does the patient have and what can be done about it?

A rare skin condition

Marbled skin is a rare skin condition that was first described in 1920 by the Dutch pediatrician Van Lohuizen. That is why it is also called Van Lohuizen syndrome. The official medical name for this condition is cutis marmorata telangiectatica congenita (CMCT). Translated from Latin to Dutch it means: cutis (= skin), marmorata (= marble), telangiectatica (= abnormal blood vessels) and congenita (= congenital). It is not yet known whether this condition is always hereditary. The condition usually occurs once in a family, in exceptional cases it occurs more often in a family. The condition appears to be more common in girls than in boys.

What exactly is a marble skin?

As the name suggests, the skin appears marble-like. There is pale skin that looks like islands with purple edges. Many people sometimes have a temporary marble pattern on their skin when it is cold, but with marble skin the pattern is always present. The flood vessels are affected. In the places where it is purple, they are dilated and the paleness indicates reduced blood flow to the skin. The cause of this condition is not yet known. It occurs during fetal development.

Where on the skin does it occur?

This marble pattern can be on only part of the body, but also on large parts of the body. Most often it is located on the arms and legs. It is less common on the face. The extent to which the complaints manifest themselves varies per person. It usually has a mild course. In many cases, the marble pattern fades with age. There are also cases where this has not disappeared and is therefore permanent. The distribution of this condition over the body is asymmetrical: one side is usually affected to a more severe extent.

Symptoms

Some people with marbled skin also have other symptoms. For example, arms and legs may be too long or too short, the development of port-wine stains, benign growths of the blood vessels, increased eye pressure, dental problems, thin bones, less developed muscles or a delay in intellectual development. Because the skin is very thin, sores can develop. Because this disease is not yet well known, not all symptoms will be known. There were some cases of marbled skin where the child had a large head. It is not known whether this is also due to this disease.

Therapy

Because the marble pattern usually diminishes as a person ages, no treatment is often necessary. If the condition leads to complaints, a decision may be made to intervene. If you have dental problems, the dentist will intervene; if there is increased eye pressure, guidance from an ophthalmologist will be necessary. If a port-wine stain is in an annoying place, something can possibly be done about it. For example, there may be varicose veins or a leg length difference that need to be treated. The condition is often limited to a visible spot on the skin. In that case, nothing needs to be done.

Research in the Netherlands

Doctors are often not fully aware of this disease. There is direct contact with medical specialists from academic hospitals to find out more about this disease and what developments are taking place. Doctors worldwide are connected to exchange information. It has also been discovered that, as is true for all skin diseases, psychological aspects also play a major role.

Psychological effects

Especially if the affected part is visible, it can affect someone’s life. The child may be bullied at school or may receive many questions because he looks different. If the person with marbled skin is very concerned about it, this can lead to negative feelings, which ultimately reduces the immune system. Fortunately, in most cases the marble skin will disappear.

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