I was genetically tested for Clouston and found to have the marker for the disease. It is a defect on the GJB6 gene. Growing up, my father and I were told we had Pachyonychia Congenita but a few years ago, I found a research paper that indicated people were incorrectly diagnosed with Pachyonychia Congenita and really have Clouston's Syndrome. When I went to the genetic testing lab (UMass Medical Research Hospital) they told me that the test for Clouston's is a 99.9% probability but Pachyopnychia is not. They did the Clouston's first and I was positive so they did not need to check for PC. I actually found a whole group of people from southwestern Quebec province that have Clouston's. I am in contact with a couple of them. My grandfather came from Quebec province but we don't know exactly where or who his family is. My father is deceased so I cannot ask any questions. We were shunned by others and so were these poor people from Huntingdon Quebec.
I hope your symptoms are more manageable than mine and I wish you success in finding whatever you are looking for. I am trying to find my grandfather's family. Growing up, I knew of no other people like me and that made it hard for others to accept and understand. That, in turn, made me feel terrible about myself.