Ectodermal dysplasia : Symptoms & Signs, Diagnosis & Tests
Symptoms & Signs
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
Diagnosis & 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)
Review Date : 10/28/2008
Reviewed By : Michael Lehrer, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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