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Ectodermal dysplasia : Symptoms & Signs, Diagnosis & Tests

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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.

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. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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