Ectodermal Dysplasia

What is ectodermal dysplasia?

Ectodermal dysplasia is a group of disorders that occurs when two or more of the ectodermally derived structures (skin, teeth, mucous membranes, nails, sweat glands, and hair) do not develop normally. 

What are the symptoms of ectodermal dysplasia?

Any combination of the structures mentioned above may be affected. Symptoms include:

• Abnormal teeth
• Missing teeth
• Abnormal fingernails and/or toenails
• Abnormal or absent sweat glands, making one unable to sweat
• Sparse hair on the scalp and body
• Cleft lip and/or palate 
• Spotty hypoplasia
• Pigmentation abnormalities
• Skin erosions
• Split hand/foot
• Growth failure

What causes ectodermal dysplasia?

There are many causes of ectodermal dysplasia, and only about half of them have been identified. Those that have been discovered are separated into categories: TP63 pathway, WNT pathway, EDA/NF KappaB pathway, and structure group. Ectodermal dysplasia can also be associated with another condition. 

How is ectodermal dysplasia diagnosed?

A physical examination helps to diagnose this condition. At times, it is diagnosed at birth, but for more mild cases it may not be diagnosed until childhood. As ectodermal dysplasia can be part of another condition, a genetic evaluation may be necessary as well. 

What are the treatments for ectodermal dysplasia?

There is no cure for this condition; treatment is catered to each individual’s specific symptoms. Treatment options may include dentures or teeth implants, lifestyle adjustments, and special medications for hair, nails, and skin. 

Where can I find out more about ectodermal dysplasia?

• • Benioff Children’s Hospital
  • National Foundation for Ectodermal Dysplasia
  • NORD