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Ectodermal dysplasias

Definition

Ectodermal dysplasias is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.

Alternative Names

Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti

Causes

There are many different types of ectodermal dysplasias. Each type of dysplasia is caused by specific mutations in certain genes. Dysplasia means abnormal development of cells or tissues. The most common form of ectodermal dysplasia usually affects men. Other forms of the disease affect men and women equally.

Symptoms

People with ectodermal dysplasia may not sweat or may have decreased sweating 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.

Affected adults are unable to tolerate a warm environment and need special measures to keep a normal body temperature.

Depending on which genes are affected, other symptoms may include:

  • Abnormal nails
  • Abnormal or missing teeth, or fewer than normal number of teeth
  • Cleft lip
  • Decreased skin color (pigment)
  • Large forehead
  • Low nasal bridge
  • Thin, sparse hair
  • Learning disabilities
  • Poor hearing
  • Poor vision with decreased tear production
  • Weakened immune system

Exams and Tests

Tests that may be done include:

Treatment

There is no specific treatment for this disorder. Instead, symptoms are treated as needed.

Some things you can do include:

  • Wear a wig and dentures to improve appearance.
  • Use artificial tears to replace normal tearing and prevent drying of the eyes.
  • Spray the nostrils with saline nose spray often to remove debris and prevent infection.
  • Take cooling water baths or use water sprays to keep a normal body temperature (water evaporating from the skin replaces the cooling function of sweat evaporating from the skin).

Support Groups

These resources can provide more information on ectodermal dysplasias:

Outlook (Prognosis)

Having the common variant of ectodermal dysplasia will not shorten your lifespan, but you must pay constant attention to temperature regulation and other problems associated with this condition.

Possible Complications

Health problems from this condition may include:

  • Brain damage caused by increased body temperature
  • Seizures caused by high fever (febrile seizures)

When to Contact a Medical Professional

Call for an appointment with your health care provider if your child shows symptoms of this disorder.

Prevention

If you have a family history of ectodermal dysplasia and you are planning to have children, genetic counseling is recommended. In many cases, it is possible to diagnose ectodermal dysplasia while the baby is still in the womb.

References

Grange DK. Ectodermal dysplasias. In: Rimoin DL, Pyeritz RE, Korf BR, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 6th ed. Philadelphia, PA: Elsevier; 2013:chap 148.

Martin KL. Ectodermal dysplasias. In: Kliegman RM, Stanton BF, St. Geme JW, Shor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 649.


Review Date: 7/25/2017
Reviewed By: David L. Swanson, MD, Vice Chair of Medical Dermatology, Associate Professor of Dermatology, Mayo Medical School, Scottsdale, AZ. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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