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What Is Ectodermal Dysplasia?

posted: 05/04/16
by: Mara Betsch
Two In A Million Ep 104
DCI

So far on "Two in a Million," you met Owen and Giovanni, who have Schwartz Jampel Syndrome, Tiffany and Yajaira, who have Jarcho-Levin Syndrome, Austin and Elena, who have Goldenhar Syndrome, and Bobbi and Kenny, who have Lamellar Ichthyosis.

Tonight, you'll meet Andrew and Brandon, 7-year-old twins, and Joshua, 11, who have Ectodermal Dysplasia. Learn all about this rare condition and how these young boys live with it every day.

What is Ectodermal Dysplasia?

Ectodermal Dysplasia's primary issue is the partial or complete absence of sweat glands. Because of this, patients either sweat very little or don't sweat at all, have frequent fevers, and can't be exposed to high temperatures. It can also affect mucous glands in the respiratory and gastrointestinal tract, making patients susceptible to a variety of immune issues.

What causes it?

It is a genetic disorder caused by a mutation of the EDA gene, which affects the formation of the nervous system, tooth enamel, skin cells, and lining of the mouth, sweat glands, etc. Because this mutation only affects X chromosomes, and females have two X chromosomes, often a "normal" gene on one chromosome will override a mutated gene on the other chromosome. These females are considered carriers, but they will not likely show symptoms. Unfortunately, for males, who only have one X chromosome, if they inherit the mutation, they will exhibit symptoms.

What are the symptoms?

Because this mutation affects hair, skin, and teeth, in addition to not being able to sweat, patients have thin, sparse hair, only a few teeth, and are prone to skin rashes and allergic reactions. Patients also have a low tolerance for heat, are easily overheated, and often run fevers.

These issues can be managed, but the scarier aspect of the disease is the malformation of mucous glands. The body uses these as its first line of defense, so if patients mucous glands are affected, their immune systems may be at a disadvantage.

How rare is it?

It's believed to occur in between 1 in 5,000-10,000 babies. As we mentioned above, it is much, much more likely to affect males.

Is there a treatment?

There's no treatment for this genetic disorder, but patients diagnosed with this condition should have a team of doctors on hand, including pediatricians, dermatologists, dentists, ears, nose, and throat specialists, and allergists, to help ease symptoms. There are also clinical trials in progress to learn more about this condition.

If you'd like to learn more about Ectodermal Dysplasia or other rare diseases, the Genetic and Rare Diseases Information Center can help. You can visit their website, call their toll-free number 888-205-2311, or contact them through this form.

How It Feels to Be Bullied

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What if simply getting too hot could be fatal to your child? Twins Andrew and Brandon, 7, have Ectodermal Dysplasia. Isolated by their condition, they meet 11-year-old Josh, who also has ED. Can their encounter bring them the friendship they all crave?