The list of unanswered questions about the 50+ types of ectodermal dysplasia is a daunting one. Families need better treatments for optimal health. These simple but challenging facts are what drive the National Foundation for Ectodermal Dysplasias (NFED) to be a powerful catalyst for research for ectodermal dysplasias.

In 2021, the Foundation, with the help of the world’s best researchers and scientists, charted a course for the future of ectodermal dysplasias research. Our research team at the International Ectodermal Dysplasias Research Conference identified five critical focus areas, outlined next steps and described what success would look like.  

Since that landmark event, international work groups have been working diligently towards our goals. It is with great pride that I update you on our research for ectodermal dysplasias.

Shape Our Futures With Research

Ectodermal dysplasia can cause a lifetime of challenges. By supporting research, you expand early diagnostics, treatments, pathways toward cures… and hope!

Donate to Research

How Prevalent is Ectodermal Dysplasia?

As a result of the genomics revolution, rare diseases have emerged as a global health priority. The various disabilities arising from rare disorders, as well as diagnostic and treatment uncertainty, can have detrimental effects on the health, psychosocial and economic aspects of families affected by rare disorders.

Prevalence refers to the number of people who are affected by ectodermal dysplasia for a given period of time. Establishing prevalence rates for these rare disorders will provide crucial information for affected families, researchers, research funding agencies, private and government health insurance agencies, and biopharmaceutical and other treatment development organizations.

A man on the left is earing a white lanyard over a pale green shirt. He has black glasses, short curly hair and facial hair. The man on the right is wearing a white lanyard and a black polo shirt. He is bald and has black glasses. They are standing in front of a screen at a Conference.
Clayton Butcher, M.D. and Timothy Fete, M.D., MPH have led the work group to determine prevalence rates.

In our study, the NFED researchers successfully established estimated period prevalence rates for several of the ectodermal dysplasia syndromes. They did this by querying a large multicenter database of electronic health records called Oracle Real-World Data. Their research demonstrated the feasibility of using such databases which is important not only for our ectodermal dysplasias community but also for other rare disorders.

The team will submit their results for publication in a professional journal within the next few weeks. We look forward to sharing those prevalence numbers with you once the information is published.

Wound Healing and p63 Syndromes

Wound healing is one our top research priorities. In November, we will convene the world’s experts together to set the strategy and to move research forward in an expedited manner. Our goal is to develop treatments and cures for the devastating skin erosions associated with some of the p63 syndromes [ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome]. Stay tuned for more information.

Natural History of Wound Healing Project

Dr. Maranke Koster is the principal investigator on this new NFED research project.

Patients affected by p63-related ectodermal dysplasias (AEC and EEC) suffer from skin erosions – large wounds that do not heal normally. In many patients, these large erosions can take 15-20 years to heal, and some wounds never heal.

A toddler boy is in the bathtub and not wearing a shirt. You can only see the scalp of his head, ear and shoulders and a part of his chest. The scalp has significant red areas where the skin has eroded. Other areas of the scalp have scabs or are in various states of healing. Research for ectodermal dysplasias is hoping to better understand these wounds.
This toddler affected by AEC syndrome experienced significant skin erosions on his scalp that would take years to heal and would often get infected. Read Josh’s story to see how is wounds are doing today.

However, our knowledge of the dynamic behavior of these wounds is very limited. Wounds in this patient population have not been followed over time. For example, we do not know how the wounds normally heal, how long it takes for individual wounds to heal, if wounds recur in the same areas, or how often new wounds develop. 

Our new study will fill this gap in knowledge. We will measure the area and volume of wounds in AEC and EEC patients at regular intervals (every two weeks) over the course of one year. These data will provide a benchmark for natural wound healing in patients affected by p63-related ectodermal dysplasias. They will be essential for the interpretation of the effectiveness of future therapeutic interventions. 

You will hear more about this study in the weeks to come.

Incontinentia Pigmenti (IP)

Three women are standing together and wearing the same conference t-shirt. The woman in the middle is holding her young daughter, who has a ponytail and blue hoodie on.
The NFED seeks to develop better treatment protocols for the eye issues faced by individuals affected by IP.

The NFED will sponsor a conference, “Incontinentia Pigmenti: Translating Discovery to Therapy” in February, 2025.

International researchers, scientists and clinicians who are leading experts in the area of IP and eye and neurological disorders will focus on the severe eye and neurological challenges faced by individuals affected by IP. 

Bringing investigators together will stimulate new collaborations and set research directions to focus on filling critical knowledge gaps.

Our goals are two-fold. First, we seek to establish best practices for eye treatment protocols for providers based on current experience and research. Second, we aim to accelerate the development of new treatments to address the morbidity and mortality associated with IP.

International Ectodermal Dysplasias Registry

The NFED continues to pursue all options for a platform for the new registry.  This is a work in progress. More information will be coming your way. 

2025 International Conference on Ectodermal Dysplasias

The NFED continues to collaborate with our global partners in the ectodermal dysplasias community to share information world-wide. The next conference will be in Lancaster, England. The NFED is one of the sponsors and is helping to develop the conference. The NFED will present our research initiatives and several other speakers from the USA will present. It is a wonderful platform to share research information and clinical best practices with the community.

Moving Forward Research for Ectodermal Dysplasias

It’s extraordinary to think about the strides the NFED is making in ectodermal dysplasias research!

An infant boy wearing a blue hat is laying in a baby bed.
We recently welcomed this sweet little boy affected by XLHED to our NFED family. His parents chose for him to participate in the Edelife Clinical Trial. He received three treatments before birth. Our hope is that he will develop normal sweat glands and have other improved symptoms like six other affected boys who have received the treatment.

And I would be remiss to not share that the Edelife Clinical Trial for x-linked hypohidrotic ectodermal dysplasia is one of our highest priorities this year. This study aims to prove that giving a treatment before birth to boys affected by XLHED will lead to sweat gland development and other improved symptoms. 

We continue to support the trial in many ways. Our goal is to share information about the trial with all XLHED families. Then, they can make an informed decision about whether or not to enroll. Nine XLHED families are now participating in the trial. The goal is to have at least 15.  Each new participant draws us closer to bringing this innovative treatment to market for all XLHED families. And we could not be prouder that the NFED started this research in the late 1980s and has led it ever since!

The NFED will not waiver in our efforts to find treatments and cures for ALL of the ectodermal dysplasias. Together, we have lots of work to and hope to raise significant funds to support innovative research for ectodermal dysplasias over the next several years!

Shape Our Futures With Research

Ectodermal dysplasia can cause a lifetime of challenges. By supporting research, you expand early diagnostics, treatments, pathways toward cures… and hope!

Donate to Research

2 comments on “Leading the World in Research for Ectodermal Dysplasias”

  1. 1
    Natalia on May 23, 2024

    Tengo displasia de ctodernica gen tp63. Deseo colaborar de alguna manera. Tengo 44 años soy de Argentina. Estoy a su disposición. Estoy a la espera en este momento de un TRASPLANTE de membrana amniotica y células lumbares Ojo izquierdo. Con técnica slem cells. Me dispongo para lo que necesiten!

    1. 2
      Kelley Atchison on May 24, 2024

      Thank you for your interest in participating in research. Please contact our office at and we will connect you with the correct staff member.

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