Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome

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

Tests that may be done include:

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

Images

Skin layers

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Ectodermal dysplasia Overview

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Ectodermal dysplasia Treatment

Review Date: 12/11/2009
Reviewed By: Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washignton School of Medicine; and David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)