What is Ectodermal Dysplasia?
Ectodermal Dysplasia is a genetic disorder that is characterized by the malformation of two or more tissues that develop from the human embryonic ectoderm. Some of the tissues that develop from embryonic ectoderm include: hair, skin sweat glands, teeth, and limbs. There is thought to be over 150 different forms of the disorder. The tissue defects are the result of inherited or primary genetic mutations. Ectodermal dysplasia occurs 1 in every 100,000 births in the United States and 7 in every 10,000 births worldwide.
What are the signs and symptoms?
The most common signs and symptoms of ectodermal dysplasia include: sparse hair, dry and hypopigmented skin, dental anomalies (malformed teeth, structural defects like cleft lip and or palate, multiple missing teeth or oligodontia, and no teeth or anodontia), nail malformations, and a reduced or no ability to sweat (heat intolerance). Other possible signs and symptoms may include: seizures, hyperthermia, xeropthalmia (dry eyes), deficient hearing and vision, dry mouth (xerostomia), difficulty swallowing (dysphagia), growth failure, frequent infections, and malformed facial features.
Am I the only one and is there help?
No, you’re not the only one and yes there is help available. There is a wonderful foundation/organization for those affected with ectodermal dysplasia. It is called the National Foundation for Ectodermal Dysplasia (N.F.E.D.). It was organized in 1981 by Mrs. Mary Richter and several other families. Their mission is “To empower and connect people touched by ectodermal dysplasia through education, support, and research.” The foundation’s web site is www.nfed.org. Visit their website and see what help is available.
Often people with ectodermal dysplasia are first diagnosed by their general dentist due to the distinct oral presentation of the disorder. Unfortunately they are often told their isn’t much that can be done with respect to their oral situation. Thankfully this is not true. If treated by properly trained dental specialists various treatment options are available that can help you feel more confident and happy with your smile.
What do I do?
First: find the proper treatment team. The correct team should include trained professionals in both the medical and dental fields. The medical team should include a pediatrician and a geneticist. The dental team should include a trained prosthodontist, a pediatric dentist, an orthodontist, an oral surgeon, and a periodontist. The prosthodontist needs to be the primary coordinator of treatment. Their understanding of complex restorative dental therapy is essential to properly plan and accomplish the restoration of your mouth. Thus, you should meet with a prosthodontist as soon as possible in the process. They will explain the possible treatment options and explain the most appropriate timeline of treatment to ensure all your needs are met appropriately. Once a plan is in place they will help coordinate treatment with the other team members.
Second: obtain a proper diagnosis. This can be accomplished by performing simple genetic test a geneticist.
Third: get in touch with the N.F.E.D. as soon as possible. They will provide wonderful help, support, and understanding to your situation.
Fourth: develop the proper treatment for the appropriate time to help improve your oral condition.
What treatment is available?
Dental treatment is unique for each individual affected with ectodermal dysplasia. It is dependent on their age, the number of teeth present, the amount of jaw bone structure present, and most importantly the individuals goals and expectations.
Treatment is divided into two general time frames: 1) during growth and development and 2) following growth and development. Most often the transition between phases occurs in the latter teenage years. Palliative dental treatment is performed throughout the growth and development years. As one grows and changes it is important to properly adapt the dental treatment to those changes. This may include additively re-shaping teeth, orthodontic movement of teeth, dental implants at the appropriate time, and removable prosthetics. The goals of treatment during growth and development are to help provide comfort with your smile until your done growing when definitive treatment may be accomplished predictably. Prior to completing growth and development it is important to develop a more definitive treatment plan for your mouth. Definitive dental treatment may include crowns, bridges, dental implants, and dental implant prostheses.