Thank you for coming to our site to learn more about ectodermal dysplasias. We know that many health care professionals may see few, if any, patients with ectodermal dysplasia because of the rarity of these syndromes. In addition, ectodermal dysplasia diagnosis and care management can be complicated by the variability of clinical presentation across many syndromes.
The following resources can help guide clinical diagnosis and care of children and adults affected by ectodermal dysplasia. For resources related to research, please visit the Resources for Researchers page.
Ectodermal dysplasia patients will often need to see a team of specialists for management and treatment due to the many body systems affected. Primary care physicians and dentists play a critical role in helping individuals get an early and accurate diagnosis to best coordinate this care. The goal is to not just diagnose someone with ectodermal dysplasia but to determine which of the 100+ sub-types is involved to guide treatment and understand outcomes.
Genetic testing is required to make a specific diagnosis, and testing is strongly encouraged as a way to determine eligibility for clinical trials and new treatments as they develop. Many commercial reference laboratories offer testing for ectodermal dysplasias. Find out if there’s testing available for the particular type you suspect your patient has.
For many ectodermal dysplasia symptoms, such as eczema, treatment may be straightforward. Other symptoms like skin erosions associated with specific ectodermal dysplasia syndromes are uniquely complex and have specific treatment protocols.
The NFED provides extensive resources to help physicians understand the different types of ectodermal dysplasia, what to expect and how to treat their symptoms. We encourage families to share our resources with their care provider team as many may not have treated someone with ectodermal dysplasia before. Likewise, we encourage physicians to share these resources with patients and their families.
Here are some key resources:
- Access Our Library of Free Articles
- Access to Free Webinar Recordings led by experts on our Scientific Advisory Council
- Dental Treatment Options
- Medical Treatment Options
- National Protocol for the Diagnosis and Care of Rare Diseases: Incontinentia Pigmenti
- Parameters of Oral Health Care for Individuals Affected by Ectodermal Dysplasias
- Skin Care Recommendations for Skin Erosions in AEC and EEC Syndrome
Though a great deal is known about ectodermal dysplasias, their rarity can make understanding the disease and its clinical aspects a challenge. Bringing together this information and making it available to clinicians and researchers is one of our major focus areas, and you can help!
In 2010, we launched the Ectodermal Dysplasias International Registry to consolidate information on ectodermal dysplasia patients into a single place. This information is used for research and clinical trials, leading to future treatments and cures. Researchers and professionals can access de-identified data to understand and learn more about ectodermal dysplasias. Please ask your patients to participate in our registry.
Resources for Patients
There are numerous ways we help families. Please share our name and website (nfed.org) with your patients and encourage them to join us. Our staff provides one-on-one support over phone or email. We listen, answer questions, and connect families with resources and our community.
You can help those with ectodermal dysplasia get medically necessary oral health care covered by health insurance. Working with dental professionals, we have created a Dental Providers Insurance Tool Kit to walk you through the process. It includes common diagnostic codes and letters of support.
- First Connect
- Family Liaison Program
- Family Conference
- Dental Treatment Centers
- Treatment Assistance Program
- Insurance Assistance Program
- List of Care Providers
We have extraordinary care providers on our Board of Directors and Patient Care Council who serve the ectodermal dysplasias community. They lead our clinical and research efforts, contribute to educational content, present webinars and Family Conference workshops, and more.
For more information, email Becky, NFED Director, Research and Treatment Advocacy.