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Genetic research

Our genetic CMTC research

Genetic research


The cause of CMTC remains unknown. Experts believe that genetic abnormalities must be the cause, however, until recently it was not possible to proceed without knowing where to look beforehand.

Finding a single genetic aberration in human DNA was similar to the search for a needle in a haystack.

Lately, this situation has changed. New techniques now allow us to find the needle and analyze the entire human DNA. In an international collaboration with Canadian researchers and medical/genetic specialists from the Netherlands are attempting to determine the cause of CMTC. This requires the help of our membership.

For this study, we require DNA samples from people with classic CMTC, i.e., the typical skin disorders, whether or not with the absence of skin and/or subcutaneous connective tissue, and potentially stunting the growth of a body part where the lesion is located. “Typical” means: blue-purple marble pattern, present at birth and becoming more pronounced with exposure to cold or emotion.

We initially need to determine whether the patient indeed has typical CMTC and whether the patient (and/or parents) is prepared to participate in the study. Furthermore, the progress of this international research will be published here.

A ‘biopsy’ is required for the research – not blood.  A biopsy is a small section of skin, in this case approximately 3 mm., taken while the subject is under local anaesthesia.

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