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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, 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.
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