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Genetic research CMTC

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Genetic research into CMTC started ...

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 abberration in human DNA was similar to the search for a needle in a haystack.

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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,including Dr. Patel from Vancouver's Children's Hospital who is currently undertaking a genetic study in to CMTC as well as  dermatologists from Rotterdam and Maastricht (Doctors Orange and van Steensel) are attempting to determine the cause of CMTC. This requires the help of our membership.

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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 leasion is located. "Typical" means: blue-purple marble pattern, present at birth and becoming more pronounced with exposure to cold or emotion.

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You can register by sending an email, which will be used initially 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.

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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 anasthesia.  The biopsy can be performed at the Sick Kids hospital in Toronto and sent to Dr. Patel in Vancouver British Columbia.  At present we are still seeking a few more participants participants.