Print-Friendly
Bookmarks

Ectodermal dysplasias

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

Learn about Same Day/Next Day appointments for Primary Care and Orthopaedic Services at Wake Forest Baptist.

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

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:

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.

BACK TO TOP

  • Skin layers

    Skin layers

    illustration

    • Skin layers

      Skin layers

      illustration

     

    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.

    The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
    adam.com

     
     
     

     

     

    A.D.A.M. content is best viewed in IE9 or above, Fire Fox and Google Chrome browser.
    USNWR 2013-2014 Magnet Hospital Recognition Consumer Choice 2014 Best Doctors Joint Commission Report

    Disclaimer: The information on this website is for general informational purposes only and SHOULD NOT be relied upon as a substitute for sound professional medical advice, evaluation or care from your physician or other qualified health care provider.