Ectodermal Dysplasia

Ectodermal dysplasias are a group of rare genetic disorders that affect your hair, teeth, nails or sweat glands. If you have one of these disorders, you might also have signs or symptoms that affect your eyes, ears, breasts or central nervous system. These are all parts of your body that grew from your ectoderm. Ectoderm is the outer germ layer that forms as an embryo develops.

You are born with ectodermal dysplasia (it’s congenital). But that doesn’t always mean people can tell you have it right away. Sometimes, parents and caregivers notice signs or symptoms in babies at — or shortly — after birth. And sometimes, they don’t appear for years.

Types of ectodermal dysplasia

Researchers have identified over 180 different ectodermal dysplasias, each with their own set of symptoms. Some examples include:

• Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID). This type involves severe immune system symptoms like low antibodies and chronic (long-term) infections.
• Hay-Wells syndrome. You might have symptoms like hair loss, scalp infections, brittle nails, missing teeth, fused eyelids or cleft lip and/or palate.
• Hidrotic ectodermal dysplasia (HED2). Also called Clouston syndrome, HED2 mainly affects your hair, skin and nail development.
• Hypohidrotic ectodermal dysplasia (HED). You have fewer sweat glands, so you don’t sweat as much as people without the condition. You may also have sparse hair, small or missing teeth, or chronic skin conditions like eczema. It’s the most common type.
• Witkop syndrome. This condition causes small, brittle nails and missing teeth (hypodontia). The teeth you do have might be cone-shaped and spaced far apart.

What are the symptoms of ectodermal dysplasia?

Each type of ectodermal dysplasia has its own signs and symptoms. Usually, each type comes with at least one condition or abnormality that can affect your:

• Eyes. Includes dry eyes, small eyes or problems with the front of your eye like recurrent corneal erosion.
• Growth rate. Children with ectodermal dysplasia have a growth rate that’s slower than expected for their age.
• Hair. Includes thin, brittle or slow-growing hair.
• Limbs. You might have misshaped, missing or webbed fingers or toes.
• Mouth. Includes cleft lip and/or palate and tooth disorders, like small, missing or abnormally shaped teeth.
• Nails. Missing, thick, thin or grooved fingernails or toenails.
• Skin. You might get rashes easily.
• Sweat glands. You may have fewer sweat glands and sweat less than other people (hypohidrotic ectodermal dysplasia, or HED). Sweating cools us off when we get too hot. So, if you sweat less or don’t sweat at all, you may overheat.
• Urogenital system. You’re more likely to have conditions that affect your genitals or urinary system like swollen kidneys because you can’t fully empty your bladder (hydronephrosis), micropenis or you may be born with testicles that haven’t yet dropped into your scrotum (undescended testicles). You may be missing one or both of your kidneys.

Having these signs and symptoms doesn’t necessarily mean you have ectodermal dysplasia. If you think you might have a form of this disorder, your healthcare provider can do genetic testing to find out for sure.

What causes ectodermal dysplasia?

Gene variations cause ectodermal dysplasia. The type of ectodermal dysplasia you have depends on which genes have variations (and what kind of variations they have). Often, the condition runs in biological families. In rare cases, the genetic variation happens without any history of ectodermal dysplasia in your family.

How is ectodermal dysplasia diagnosed?

A healthcare provider will begin with a physical examination. Specifically, they’ll look for abnormalities of your hair, nails, teeth and sweat glands. Depending on your symptoms, your provider might take imaging tests like X-rays or CT scans.

If your healthcare provider suspects ectodermal dysplasia, they’ll do genetic testing. These tests can identify variations in your genes, tell you whether you have ectodermal dysplasia and, if so, what type.

How is ectodermal dysplasia treated?

Treatment depends on severity and the type of ectodermal dysplasia you have. Ectodermal dysplasia treatments include:

• Staying cool. If you don’t sweat as much as other people, you have a harder time cooling off. Staying hydrated or wearing cooling vests can help avoid heat stroke.
• Dental or oral surgery procedures. You can replace missing teeth with dental implants, bridges or dentures. Or you might need dental bonding, veneers or crowns to fix small or misshaped teeth.
• Hair loss treatment. Minoxidil (Rogaine®) and other medications may encourage natural hair growth.
• Skin moisturizers. Regular application of ointments, creams and lotions can help reduce your risk of dry, scaly skin.

Because ectodermal dysplasia affects so many different parts of your body, you’ll likely have many different providers on your care team.

Babies born with severe abnormalities may require early treatment from a specialist. Your healthcare provider can tell you what to expect in your situation.

Can ectodermal dysplasia be prevented?

You can’t prevent this condition because genetic changes beyond your control cause it. If you or your child has ectodermal dysplasia, it’s not because of something you did or didn’t do.

If you have it and plan to expand your family, you might consider genetic counseling. A genetic counselor can help you understand your chances of having a child with a genetic condition.

What’s the outlook for ectodermal dysplasia?

The outlook is usually good with early detection and appropriate treatment. Most people with ectodermal dysplasia have normal lifespans.

While you can’t cure ectodermal dysplasia, treatment can help manage your symptoms.

What to expect if your child has ectodermal dysplasia

Depending on the symptoms and conditions your child has, they could need multiple treatments. The order and timing of these procedures depend on the type and severity of ectodermal dysplasia. Your healthcare provider will work with you to determine an appropriate treatment plan.

When should I see my healthcare provider?

If you or your child has symptoms that could point to ectodermal dysplasia, tell your healthcare provider. This includes (but isn’t limited to) small or missing teeth, webbed fingers, skin irritation and eye or ear abnormalities.

What questions should I ask my doctor?

If you have ectoderm dysplasia, here are some questions you might want to ask your healthcare provider:

• What type of ectoderm dysplasia do I have?
• What are my treatment options?
• How will this affect my (or my child’s) life?
• What are complications I should watch for?
• How often will I need to come in for appointments?
• Are there support groups available?