Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Hypohidrotic ectodermal dysplasia


Other Names for this Disease

  • Anhidrotic ectodermal dysplasia
  • Christ-Siemens-Touraine syndrome
  • CST syndrome
  • Ectodermal dysplasia anhidrotic
  • Ectodermal dysplasia, hypohidrotic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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).[1]
Last updated: 1/21/2014

References

  1. Wright JT, Grange DK, Richter MK. Hypohidrotic Ectodermal Dysplasia. GeneReviews. June 13, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1112/. Accessed 1/21/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

3 question(s) from the public on Hypohidrotic ectodermal dysplasia have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The New Zealand Dermatolgical Society's Web site has information on ectodermal dysplasia. Click on the link above to view this information page.
  • Family Village is a global community that integrates information, resources, and communication opportunities on the Internet for persons with cognitive and other disabilities, for their families, and for those who provide services and support. Click on Family Villiage to view a resource page on ectodermal dysplasia.
  • Genetics Home Reference (GHR) contains information on Hypohidrotic ectodermal dysplasia. This website is maintained by the National Library of Medicine.
  • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about ectodermal dysplasia. Click on the link to view this information.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Socialstyrelsen: The National Board Of Health Welfare in Sweden has an information page on hypohidrotic ectodermal dysplasia. Click on the link above to view this information page. 

In Depth Information

  • Medscape Reference provides information on ectodermal dysplasias. You may need to register to view the medical textbook, but registration is free
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypohidrotic ectodermal dysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Anhidrotic ectodermal dysplasia
  • Christ-Siemens-Touraine syndrome
  • CST syndrome
  • Ectodermal dysplasia anhidrotic
  • Ectodermal dysplasia, hypohidrotic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.