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Introduction of the global CMTC-OVM patient organisation for people with CMTC and Other Vascular Malformations

Introduction of the global CMTC-OVM patient organisation for people with CMTC and Other Vascular Malformations
Member News

This is the first article of the Dutch global non-profit patient organisation for patients with CMTC and Other Vascular (bloodvessel) Malformations, their families and healthcare providers.

The reason for the existence of the CMTC-OVM (Cutis Marmorata Telangiectatica Congenita and Other Vascular Malformations) association can be traced back to the birth of the daughter of Lex van der Heijden. She was born ‘black and blue. Since none of the midwives in the hospital had ever seen this before, a paediatrician was consulted. He was also unfamiliar with the condition and conjectured that this was a ‘cosmetic’ problem that would disappear over time.

After a few months however, we noticed differences in the circumference of both legs. One of the legs had stains and the other had not. The leg with the marks was thinner than the normal one. After many examinations, visits to three university hospitals, and a ‘mere’ six months after her birth, the diagnosis was confirmed: CMTC. At that time hardly anything was known about this condition.

CMTC is usually a fairly mild condition. However, a number of people with the disorder have been reported to have associated abnormalities.

The percentage of people with CMTC with such associated abnormalities varies quite a bit in the literature. There are many associated defects mentioned in CMTC. However, many abnormalities are not at all certain that there is a link between CMTC and the relevant associated abnormality.

Associated abnormalities

A number of people with CMTC may also experience other skin symptoms than the marbling of the skin. Sometimes sores can occur or the skin can become ‘thin’ locally. This is called ‘atrophy’. Sometimes another occurring abnormality is asymmetry of the limbs. Limbs can be thinner (hypotrophy) but sometimes also thicker (hypertrophy). See also our ‘photo gallery’ where, among other things, asymmetry of limbs is clearly visible. Other additional abnormalities may be: pink or dark red, irregularly shaped patches on the skin (naevus flammeus); loss of muscle tissue on one side of the body (hemiatrophy); increased fluid pressure in the eye (glaucoma). Many abnormalities represent forms of Klippel-Trenaunay syndrome or related conditions, in particular Cowden’s disease. The most common deviation from true CMTC is soft tissue (subcutaneous fat and muscle) hypoplasia (enlargement of tissue / organ as a result of abnormally high cell division).

Possible complications

Have you or has your child been diagnosed with CMTC or are there strong indications this is the case? Note that complications may arise at the location of the CMTC-markings.

With CMTC-markings we mean locations on the body with marbled skin or where dilated blood vessels can be seen through the skin.

The location of CMTC-markings may indicate complications but this is not necessarily always the case.

The next time we will discuss a number of OVM conditions.

For more information: www.cmtc.nl/en

NEWS​

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