A need for classification agreement: Perspectives from an advocacy group


  • Mary Kaye Richter

    Corresponding author
    1. National Foundation for Ectodermal Dysplasias, Mascoutah, Illinois
    • Executive Director, National Foundation for Ectodermal Dysplasias, 410 East Main, St. Mascoutah, IL 62258.
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  • How to cite this article: Richter MK. 2009. A need for classification agreement: Perspectives from an advocacy group. Am J Med Genet Part A 149A:1977–1979.


There is a need to focus on the classification of the ectodermal dysplasia syndromes to reach consensus on a classification that satisfies all interested parties. However, whatever scheme is developed, it will have far-reaching application for other groups of disorders for which classification is complicated by the number of interested parties and advances in diagnostic acumen. Consensus among interested parties is necessary for communication among the parties whether it be for equitable distribution of funds, correctness of diagnosis and treatment, or focusing research efforts. Classification of the ectodermal dysplasia syndromes will enable advocacy organizations like the National Foundation for Ectodermal Dysplasias to better serve constituents, to use limited resources more effectively, to move research forward, to find cures and to bring continued hope for the future to those we serve. Having international agreement on these issues will enable all of our organizations to move forward with confidence. © 2009 Wiley-Liss, Inc.

Perhaps, had I been really smart back in 1981, instead of organizing the National Foundation for Ectodermal Dysplasias, I would have chosen instead to call it the National Foundation for Hypohidrotic Ectodermal Dysplasia which would have significantly uncomplicated my life. However, as that was not the case my interest in a single disorder became a crusade for a group of conditions about which relatively little was known. I have often said, “turn and run from anyone who suggests they know everything about ectodermal dysplasia” as those who truly do know that realize much remains to be learned; including the need for a better way of categorizing the syndromes.

The National Foundation for Ectodermal Dysplasias in its 27 years of operation has not only become a reliable source of information but also conducts a dynamic research program, provides financial assistance for care, actively advocates for support of the National Institutes of Health, coordinates a group of institutional treatment centers, educates families and clinicians with symposia, and aids families in their quest for insurance benefits. We maintain the largest database on patients in the world and actively work with other groups on mutual interests and concerns.

My foray into the world of ectodermal dysplasia was the direct result of the birth of our third child. My husband and I had earlier welcomed a boy and girl into our family; both of whom were healthy. While initially we had little concern about our second son, questions arose from his lack of teeth and discomfort during the summertime. At the age of 16 months, our family dentist finally put the pieces of the puzzle together when he suggested that our boy was affected by hypohidrotic ectodermal dysplasia (HED). I remember leaving the dental office with my arms wrapped tightly around our little guy as if somehow I could protect him from the condition. At the time, the greatest frustration came from a lack of useful information and reading medical articles that filled us with anxiety and fear. We had no idea of what to expect or what to do. Experience is a good teacher and as time passed we learned much about HED including that large amounts of the information available at that time was wrong.

So it was that in 1981, the National Foundation for Ectodermal Dysplasias was incorporated. After humble beginnings in our home office, a move to a former storage room in a local church, then to an office vacated by a physician and finally to our current quarters which houses a great deal of information and a staff of 9. It is from Mascoutah, IL, that we reach out to families in all 50 states and 72 countries. There are currently 5,232 individuals in our database with more than 1,900 of them affected by HED. The syndromes associated with the P63 gene account for 249, hidrotic's number 151, 86 are affected by Fried's or Witkop's, with smaller numbers challenged by Goltz, IP, TRP, and so on. What is really remarkable is that more than 2,600 do not have a specific diagnosis-just a combination of symptoms consistent with some type of ectodermal dysplasia. With more than half of the individuals in our database without a diagnosis, it is clear why improved descriptions and classification of the ectodermal dysplasia syndromes is needed.

It often feels as though we are dealing with oranges and apples. While there are similarities among the syndromes there are also differences and sometimes those differences are considerable. Our hope for the classification conference is that improvements in classification and description will point us on a path which will help us better understand the syndromes and the services those affected will need.

In total, the ectodermal dysplasia syndromes are equal opportunity conditions regardless of gender, ethnicity, socio-economic status, are country of origin. Some of the syndromes are mild while others are devastating. Possessing an ED syndrome does not prohibit a patient from having other conditions as well. Sometimes the presence of other conditions makes the diagnosis of ectodermal dysplasia even more difficult. The implications for families can be life-altering.

Without a clear understanding of the syndromes and their genetic implications, appropriate counseling cannot take place. Typically, most geneticists are familiar with HED but how many are aware that the same condition has 3 modes of inheritance? All of the conditions look alike so without thoughtful consideration errors in judgment can occur. I recall my surprise when I learned that the condition that affects my son was “my fault,” a comment made by a clinician offering an opinion. Those are stinging words that obviously have stayed with me. But they were wrong. Imagine, too, my surprise somewhat latter at finding little girls who were identical in appearance to my son. Then there was a letter from a mom who wrote “my daughter has ectodermal dysplasia and also a cleft lip/palate, missing fingers and toes.” She was clearly describing EEC but yet clinicians had not adequately explained that all of the symptoms affecting her daughter were typical of that particular syndrome. Somehow knowing that your child has a particular syndrome is much easier than feeling as though you are dealing with a plethora of birth defects.

There are also many other issues including access to care, cost of care, and a lack of understanding of particular syndromes. For non-profit organizations there are also implications including but not limited to helping families find experienced care providers, providing accurate information, assisting with insurance issues, educating government agencies, and improving clinician education. We also consider ourselves to be on a fact finding mission. For example; prior to a workshop we conducted on the AEC or Hay-Well's syndrome few, if anyone, knew of the pigment changes which happen among dark skinned babies. In EEC, there are obviously problems associated with the kidneys/bladder/ureters but these have never been described and are poorly understood.

As challenging as the symptoms may be, the genetic implications are often difficult for families. Perhaps the most disquieting words from a parent may be, “they diagnosed me after they diagnosed our child.” Adults with confidence in their care providers are often astounded that one feature or another of an ectodermal dysplasia symptom has been entirely missed throughout their lives. This is particularly disconcerting for those having oral manifestations. All too often their dentist has never asked why teeth were missing; perhaps assuming that the loss was due to a lack of hygiene. Giving some benefit of the doubt to clinicians who cannot know everything about every condition, one would think natural curiosity would have encouraged a few to ask pertinent questions.

Those situations, of course, lead to a bigger question as to how clinicians are educated about the subtleties of these conditions. At this point in time, the question becomes a moot point as even those of us with more than a passing curiosity are uncertain as to how individual syndromes should be described and which truly belong under the umbrella of ED. Until we have consensus on how the ectodermal dysplasia syndromes should be defined, it will be difficult to teach others. What is needed is a clear, concise and thoughtful description of the conditions and the various syndromes associated with it.

For non-profit organizations like the NFED, there are other concerns that must be addressed. These include the education and training of clinicians in sufficient numbers to make access to care reasonable. It is not at all unusual for patients to travel hundreds if not thousands of miles in order to get the care they need. In some situations, failure to get to an experienced care provider can be life-threatening as has been the case with dermatologists who do skin grafting on patients affected by AEC. There have been multiple cases where such treatment was provided which led to infection and ultimately death.

Another unresolved question is who will pay for care. With dental care alone costing the average HED patient upwards of $100,000 during their lifetime, the cost of care may have some individuals forgoing care, choosing shortcuts to care or using less experienced care providers. The lack of government programs for the indigent, failure of insurance companies to recognize the necessity of care or the presence of some other entity that can assist are real obstacles to care. What a shame this is as even minimal care may have an extraordinary impact on the patient. One bright spot has been an increase in the number of families who are successful in getting their oral health care covered by their medical insurers. While that may only be the case for 50% of those who fight the battle, it is clearly a war worth fighting.

Getting families together that are affected by the same syndrome can be an invaluable experience for all involved. The NFED has done that for the AEC syndrome and the pay off was immediate. Dramatic and patchy pigmentation in African-American infants affected by the condition is remarkable. Who would have thought that a bit of time was the only thing needed as the pigmentation evens out over time; a fact that was clearly illustrated at our workshop on the syndrome. But even more was learned about patient needs from hearing concerns to skin erosion management. Having patients, clinicians and researchers working together is medicine at its best.

The NFED has a history of more than 27 years of compassionate and comprehensive service to the families it serves. Be it educational materials and programs, treatment assistance, research, advocating for air-conditioning in schools or insurance benefits, the NFED was organized to make a difference in the lives of those affected and indeed we have. We have a wide-ranging assortment of publications, we have provided more than $1 million in treatment assistance, in excess of $200,000 has been given to students to further their education and more than $1 million has been provided to fruitful research. We have had a hand in identifying the genes for multiple syndromes, helped with moving forward recombinant EDA research, provided comprehensive and new information on AEC, defined growth and nutrition and are working on allergy, cognitive and women's issue studies. With more than 5,000 patients in our database we have the largest repository of ED information in the world.

Classification of the ectodermal dysplasia syndromes will enable advocacy organizations like ours to better serve our constituents, to use limited resources more effectively, to move research forward, to find cures and to bring continued hope for the future to those we serve. Having international agreement on these issues will enable all of our organizations to move forward with confidence.