My name is Karl and I was born in rural Minnesota. I eventually was diagnosed ectodermal dysplasia at the age of five after numerous consults with specialist around Minnesota. As my abnormal dentition became more significant, my diagnosis became more evident. I had my first set of dentures at the age of five and started losing my hair in the sixth and seventh grade. I chose to start wearing a wig to cover up my alopecia. I wore this wig every day from the six grade until the day I was married when I was 26.
In my early 20s, my natural teeth were breaking down and I decided to work with University of Minnesota to obtain dental implants. Five implants and a custom titanium bar were placed into my maxilla and five implants and a lower dental prosthetic we’re screwed into the mandible. This treatment was necessary in my case to obtain a normal function and appearance.
Other changes as a result of ectodermal dysplasia for me have been significant eczema with severe itching at night and episodic breakouts requiring high strength steroids. I have dystrophic nail changes as well as chronic blepharitis. As a result, my tears ducts have closed and I do not drain normally into the nasal cavity. I have attempted two rounds of Jones tube placements and both failed likely due to inflammatory tissue/granulation.
I continue to be genetically undiagnosed. We have tested for all known markers associated with the ectodermal dysplasias as well as all exome sequencing. This analysis up to this point has not shown any suspicious variants even when comparing my parents and my daughters genetic material. Samantha, my daughter, is now 12 years old and we are phenotypically extremely similar. Neither of us have breast tissue or nipples and our nails are almost identical. She is starting to experience areas of alopecia. We continue to search for a generic explanation for our phenotype .
Thank you for listening to our story.