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Ectodermal dysplasia

Definition

Ectodermal dysplasia 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

Causes

There are many different types of ectodermal dysplasia.

Many gene defects can cause ectodermal dysplasias. 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.

Other symptoms include:

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

Exams and Tests

Tests that may be done include:

  • Biopsy of the mucus membranes
  • Biopsy of the skin
  • Genetic testing (available for some types of this disorder)
  • X-rays of the teeth or bones may be done

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).

Outlook (Prognosis)

Having 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. Rimoin D, Korf B, eds. In: 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 III, Shor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 649.

Review Date:7/23/2015
Reviewed By:Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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Health
Outcome Data

No data available for this condition/procedure.

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Chronic

Febrile seizures *

Sweating

Sweating - absent


* Has Related Health Outcome Information

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