By J. Timothy Wright, DDS, MS

How does one best diagnose and understand the clinical manifestations of an individual or family with an ectodermal dysplasia?  Furthermore, what exactly is an ectodermal dysplasia?

These questions have challenged affected individuals, clinicians and scientists for over 40 years. A decade ago, the National Foundation for Ectodermal Dysplasias (NFED) embarked on a mission to help resolve this issue.

Living in the post-genome era made the timing right to move forward to convene several NFED-sponsored and National Institutes of Health (NIH) funded classification conferences.

Our 2017 Meeting

The last international work group met in 2017 and brought together ectodermal dysplasias family members, clinicians, and scientist from around the world. Working at the NIH campus in Bethesda, Md, the workgroup built upon the work of the previous classifications to refine and develop a working definition of what is an ectodermal dysplasia.

The definition reads: ectodermal dysplasias are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands.

Using this definition, a classification system emerged that incorporates the genetic cause, as well as how the genetic variation changes normal development. Our growing understanding of genetics and molecular biology are increasing be used to better diagnose and manage the clinical manifestations of ectodermal dysplasias.

A manuscript of this work was recently published in the American Journal of Medical Genetics and was titled: “Ectodermal Dysplasias: Classification and Organization by Phenotype, Genotype and Molecular Pathway”.

Our Vision

The hope is that this information will help advance our understanding of these conditions and ultimately lead to new and novel therapies that will improve the lives of those living with diverse ectodermal dysplasias-related clinical issues.

 

Dr. Wright is a distinguished professor and the Director of Strategic Initiatives at the University of North Carolina at Chapel Hill School of Dentistry. He has served on the NFED Board of Directors since 2017 and on the NFED Scientific Advisory Council since 2006.

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