Jacob, October 2013 (photo: Rhonda McMaster)
Like many who suffer from ectodermal dysplasia (ED), 14-month-old Jacob was initially diagnosed by his dentist. As the first health care provider to link together the various symptoms described by the child’s parents—delayed teething, severe facial eczema, sparse eyelashes and missing eyebrows, red rimmed eyes, unwillingness to drink warm beverages—Jacob’s dentist suspected an ED disorder.
“We were incredibly lucky that our dentist knew how to recognize ED,” explains Jacob’s mother Meghan Howard. “Many families go through years of dental treatments without hearing about ED as a possible diagnosis, or enamel and decay issues being blamed on poor diet and dental hygiene.”
Diagnosis
“One of the challenges in diagnosing ED is that is it not always a simple, consistent, predictable clinical presentation,” explains Dr. Kevin Butterfield, division chief of dentistry and oral and maxillofacial surgery at the Ottawa Hospital.
ED refers to more than 170 rare genetic disorders that cause abnormal ectoderm development. The main ED defects can be divided into 4 types of dysplasia—dental, hair, nail and sweat glands. Dentists can be instrumental in diagnosing ED as they can observe first-hand dental defects caused by the various disorders, including:
The Canadian Ectodermal Dysplasia Syndromes Association (CEDSA)
When Jacob was first diagnosed, there was no Canadian organization dedicated to helping patients with ED. To help fill that gap in service, Meghan Howard founded the Canadian Ectodermal Dysplasia Syndromes Association (CEDSA) in 2010.
CEDSA supports families through teleseminars with maxillofacial surgeons, a comprehensive website, regular newsletters, a support fund to help cover the important dental and medical costs associated with treatment, and the creation of a secure medical and dental expert database.
To learn more about CEDSA activities and services, visit www.ectodermaldysplasia.ca.
- Anodontia or hypodontia
- Taurodontism of deciduous molars
- Permanent dentition often limited to: central incisors, first molars and canines (maxilla); canines, first premolars and first molars (mandible)
- Deficient alveolar ridges (associated with hypodontia)
- Underdeveloped jaws
- Malformed teeth
- Cleft lip or palate
- Absence of lingual frenulum
When Jacob’s dentist believed that the toddler likely had ED, he referred him to a pediatric dentist who practises at the Children’s Hospital of Eastern Ontario (CHEO). “We were so relieved and grateful to meet with a specialist experienced in treating patients with ED,” remembers Ms. Howard.
Treatment
Patients with ED are usually good candidates for implant therapy, and the procedure success rate compares to that of normal patients. However, they often have to undergo bone augmentation in preparation for implant placement. In October 2013, Dr. Butterfield performed dental implant placement on Jacob, who is now 5 years old.
“While the varying clinical presentations can cause difficulties in the diagnostic process, the prosthetic management has dramatically improved as we are now able to provide patients with a predictable functional result,” says Dr. Butterfield.
Unlike many patients who struggle to find specialists in any needed area of treatment, Jacob is followed by a multidisciplinary team of health professionals. “Our team of experts includes Dr. Butterfield, a prosthodontist, a pediatric dentist, a geneticist and a pediatrician,” explains Ms. Howard. “We have however been unsuccessful in finding a dermatologist with experience in treating patients with ED, so Jacob’s eczema is not under control at this point.”
Outlook
Prognosis for people with ED is generally very good. They have a normal life expectancy, and most disorders do not lead to developmental delays.
Jacob’s resilience to his condition never ceases to impress his mother. “He absolutely refuses to let ED slow him down. He could teach many of us what courage really means,” says Ms. Howard.
Sources
- Canada Ectodermal Dysplasia Syndromes Association website [accessed 2013 Oct 21]. Available: www.ectodermaldysplasia.ca.
- Jones J, Holland M et al. Ectodermal dysplasia [accessed 2013 Oct 21]. Available: radiopaedia.org/articles/ectodermal-dysplasia.
- Van Sickels JE, Raybould TP, Hicks EP. Interdisciplinary management of patients with ectodermal dysplasia. J Oral Implantol. 2010;36(3):239-45.
- Li D, Lui Y, Ma W, Song Y. Review of ectodermal dysplasia: case report on treatment planning and surgical management of oligodontia with implant restorations. Implant Dent. 2011 Oct;20(5):328-30.