St. Luke's Hospital
Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Find a Physician Payment Options Locations & Directions
Follow us on: facebook twitter Mobile Email Page Email Page Print Page Print Page Increase Font Size Decrease Font Size Font Size
America's 50 Best Hospitals
Meet the Doctor
Spirit of Women
Community Health Needs Assessment
Home > Health Information

Multimedia Encyclopedia

    Print-Friendly
    Bookmarks

    Ectodermal dysplasia

    Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome

    Ectodermal dysplasia 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 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.

    Children with the disease may have difficulty controlling fevers. Mild illness can produce extremely high fevers, 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
    • Absent or decreased tears
    • Decreased skin color (pigment)
    • Heat intolerance
    • Inability to sweat
    • Large forehead
    • Lower than normal number of teeth
    • Low nasal bridge
    • Poor hearing
    • Poor temperature regulation
    • Poor vision
    • Thin, sparse hair
    • Thin skin

    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)

    Treatment

    There is no specific treatment for this disorder.

    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.
    • Live in a cooler climate and 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

    • 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

    Morelli JG. Ectodermal dysplasias. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 648.

    BACK TO TOP

    • Skin layers

      illustration

      • Skin layers

        illustration

      A Closer Look

        Self Care

          Tests for Ectodermal dysplasia

            Review Date: 11/22/2011

            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, Medical Director, A.D.A.M., Inc.

            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., 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 chrome browser.


            Back  |  Top
            About Us
            Contact Us
            History
            Mission
            Locations & Directions
            Quality Reports
            Annual Reports
            Honors & Awards
            Community Health Needs
            Assessment

            Newsroom
            Services
            Brain & Spine
            Cancer
            Heart
            Maternity
            Orthopedics
            Pulmonary
            Sleep Medicine
            Urgent Care
            Women's Services
            All Services
            Patients & Visitors
            Locations & Directions
            Find a Physician
            Tour St. Luke's
            Patient & Visitor Information
            Contact Us
            Payment Options
            Financial Assistance
            Send a Card
            Mammogram Appointments
            Health Tools
            My Personal Health
            mystlukes
            Spirit of Women
            Health Information & Tools
            Clinical Trials
            Health Risk Assessments
            Employer Programs -
            Passport to Wellness

            Classes & Events
            Classes & Events
            Spirit of Women
            Donate & Volunteer
            Giving Opportunities
            Volunteer
            Physicians & Employees
            For Physicians
            Remote Access
            Medical Residency Information
            Pharmacy Residency Information
            Physician CPOE Training
            Careers
            Careers
            St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
            Copyright © St. Luke's Hospital Website Terms and Conditions  |  Privacy Policy  |  Patient Notice of Privacy Policies PDF Sitemap St. Luke's Mobile