Hypohidrotic ectodermal dysplasia

How is hypohidrotic ectodermal dysplasia diagnosed?

In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm the diagnosis. Other reasons for testing may include to identify carriers or for prenatal diagnosis.

Clinical testing is available for detection of disease causing mutations in the EDA, EDAR, and EDARADD genes. Those interested in pursuing genetic testing are encouraged to consult with a health care provider or a genetics professional to learn more about available testing options.

Last updated on 05-01-20

What is hypohidrotic ectodermal dysplasia?

Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).

Last updated on 05-01-20

How might hypohidrotic ectodermal dysplasia be treated?

There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work. In order to maintain normal body temperature, they should frequently drink cool liquids and wear cool clothing. Dental defects can be managed with dentures and implants. Artificial tears are used to prevent cornea damage for patients that do not produce enough tears. Surgery to repair a cleft palate is also helpful in improving speech and facial deformities.

Last updated on 05-01-20

Name: National Foundation for Ectodermal Dysplasias 6 Executive Drive Suite 2
Fairview Heights, IL, 62258-1360, United States
Phone: +1-618-566-2020 Fax : +1-618-566-4718 Email: info@nfed.org Url: https://www.nfed.org/
Name: The Ectodermal Dysplasia Society Unit 1 Maida Vale Business Centre Leckhampton
Cheltenham Gloucestershire GL53 7ER
United Kingdom
Phone: +44 (0) 1242 261332 Email: info@edsociety.co.uk Url: https://edsociety.co.uk/
Name: Canadian Ectodermal Dysplasia Syndromes Association CEDSA 124 Lochiel Street
Renfrew, Ontario K7V 1W7, Canada
Phone: +1-613-432-9732 Email: meghan@ectodermaldysplasia.ca Url: http://www.ectodermaldysplasia.ca/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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