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Hereditary condition: Ectodermal Dysplasia (ED)

Ectodermal Dysplasia is a rare hereditary condition involving an abnormality of the growth and development of embryonic tissue. The development of the outer parts of the body, such as the skin, eyes or teeth, is particularly affected. Other symptoms may be that the sweat glands are missing, the nails are abnormal and the skin is very thin. The patient has difficulty regulating body temperature. The tear glands are often missing, causing the eyes to become irritated.

Hereditary disorder

Ectodermal Dysplasia, also known as ED for short, is a hereditary condition that was first described by Charles Darwin, an English physicist, around the year 1860. This rare condition involves an abnormality in the growth and development of the structures that arise from the ectoderm. The ectoderm is the embryonic tissue from which mainly superficial structures of the body arise, such as the skin, eyes, teeth or sweat glands.


Because it is a hereditary condition, Ectodermal Dysplasia is passed on from parents to their child. Several chromosomes are involved. Chromosomes are located in the cell nucleus and are carriers of hereditary properties. Both men and women can get this condition. This disease can manifest itself in different ways because different structures can be affected.


As mentioned, the structures for the outer parts of the body are mainly affected. The symptoms can be diverse. For example, the nails may be abnormal, teeth may be missing, thin skin with missing sweat glands or a deformed nose. In some patients, the sweat glands are only present to a small extent. In addition, the brain, spinal cord, retina or pigment cells of the skin may also be affected.The most common symptoms are:

  • Little or no hair
  • Missing teeth (often the absence of adult teeth)
  • Thin and dry skin
  • Absence of sweat glands
  • Abnormal nails
  • Nose deformity
  • Absence or very little tear fluid



Due to the thin skin and the lack of sweat glands, the body is unable to regulate its temperature properly. The body temperature can quickly become too high and this can lead to brain damage and convulsions. If the body temperature becomes too high, the patient can die. Chronic infections can develop in the nose and airways due to overly dry mucous membranes. The lack of tears can cause the eyes to become dry and irritated.


If a child is born with one of the above symptoms and the condition has previously occurred in the family, certain tests can confirm the diagnosis of Ectodermal Dysplasia. For example, one of the tests is a skin biopsy. A piece of skin is removed and examined microscopically. A dentist will quickly discover the abnormality in the teeth, allowing further examination to determine the diagnosis.


A diagnosis can be made if Ectodermal Dysplasia is suspected in a newly born child, but unfortunately a specific treatment for this condition is not yet available. People with this condition must be especially careful not to expose themselves to large temperature fluctuations. It is wise to always have something on hand, such as a bottle of water to cool down if the body temperature rises too high. For dental problems, the dentist can offer a solution, usually in the form of a prosthesis. In case of dry eyes, the patient can use eye drops.


People with this condition need to be aware of their limitations. They can live a fairly normal life and just be happy. In some people the disease is not visible on the outside. They must be especially careful in hot weather because the body temperature can rise dangerously high due to the lack of sweat glands and this can quickly lead to brain damage and convulsions (febrile convulsions). Having children is often discouraged, although it is not always impossible to have children. There is a chance that the child will also develop Ectodermal Dysplasia.