Health Encyclopedia

Ectodermal dysplasia

Definition

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

Alternative Names

Anhidrotic ectodermal dysplasia

Causes, incidence, and risk factors

There are many different types of ectodermal dysplasia.

Many gene defects cause ectodermal dysplasias. The most common form of ectodermal dysplasia is linked to the X chromosome and usually affects men. Other forms of the disease affect men and women equally.

Symptoms

Persons with ectodermal dysplasia may not sweat or 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 can't 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 and missing teeth
Absent or very thin hair
Absent tears (occasional)
Decreased skin color (pigment)
Foul-smelling nasal discharge
Heat intolerance
Inability to sweat
Large forehead
Light coloring
Lower-than-normal number of teeth
Low nasal bridge
Poor temperature regulation
Thin hair
Thin skin

Signs and tests

Tests that may be done include:

Biopsy of the mucous membranes
Biopsy of the skin
Genetic testing (available for some types of this disorder)

Treatment

There is no specific treatment for this disorder. Wearing a wig and dentures can improve the child's appearance. Artificial tears may be needed to replace normal tearing and prevent drying of the eyes. It may be helpful to spray the nostrils with saline nose spray often to remove debris and prevent infection.

Temperature control is a constant problem. Those who have this condition need a cooler climate and may need to 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.)

Expectations (prognosis)

Having ectodermal dysplasia will not shorten your life span, but you must pay constant attention to temperature regulation and other problems associated with this condition.

Complications

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

Calling your health care provider

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

Prevention

Genetic counseling for prospective parents with a family history of ectodermal dysplasia is recommended. In many cases it is possible to diagnose ectodermal dysplasia while the baby is still in the womb.

Review Date:10/25/2007
Reviewed By:Chad Haldeman-Englert, M.D., Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

ADAM Quality A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.