Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are inherited in an X-linked pattern and are caused by mutations in the EDA gene. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes .
How is ectodermal dysplasia diagnosed?
Ectodermal dysplasia is diagnosed by physical examination. Some children are diagnosed at birth, but milder forms of the disorder may go undetected until symptoms begin to affect the child's daily life or development.
What happens to a person with ectodermal dysplasia?
People with ectodermal dysplasia may not sweat or sweat less than normal because of a lack of sweat glands. In children with the disease, their bodies may have a problem controlling fevers. Even a mild illness can produce an extremely high fever, because the skin cannot sweat and control temperature properly.
Is ectodermal dysplasia curable?
There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work.
How do you know if you have ectodermal dysplasia?
Hair: abnormal structure, sparse, slow-growing, often light-colored. Sweat glands: often reduced number and abnormal structure, leading to decreased sweat production and risk of elevated body temperature (hyperthermia) Nails: toenails and fingernails can be absent, thin, thick, grooved.
What is ectodermal dysplasia caused by?
Ectodermal dysplasias are genetic disorders, which means that they can be passed on from affected people to their children. They are caused by mutations in various genes ; the mutations may be inherited from a parent, or normal genes may become mutated at the time of egg or sperm formation, or after fertilization.
Can ectodermal dysplasia be cured?
Unfortunately, there is no cure for ectodermal dysplasia. Instead, the goal is to successfully manage the symptoms so that the individual can lead a healthy life and have a good quality of life. Because the symptoms vary depending on the type of ectodermal dysplasia, the treatment plan will vary with each person too.
What is the treatment for ectodermal dysplasia?
Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).
How long do people with ectodermal dysplasia live?
Do people affected by Ectodermal Dysplasia have a normal life span? There is no evidence that the life span for a person diagnosed with one of the common Ectodermal Dysplasias is shorter than average. We have many middle-aged to elderly adult members. There are certain rare syndromes where life span may be shortened.
Is ectodermal dysplasia a disability?
If you or your dependent(s) are diagnosed with Hypohidrotic Ectodermal Dysplasia and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.
Does ectodermal dysplasia affect life expectancy?
Does ectodermal dysplasia affect lifespan? Lifespan is normal in nearly all types of ectodermal dysplasia.