National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

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

Clinical testing is available for detection of disease causing mutations in the EDA, EDAR, and EDARADD genes.[1] 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: 1/21/2014

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.[2][3]
Last updated: 9/27/2012

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Hypohidrotic ectodermal dysplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Hypohidrotic ectodermal dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Hypohidrotic ectodermal dysplasia:
    United States Immunodeficiency Network (USIDENT) Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The New Zealand Dermatolgical Society's Web site has information on ectodermal dysplasia. Click on the link above to view this information page.
  • Genetics Home Reference (GHR) contains information on Hypohidrotic ectodermal dysplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • The Online Mendelian Inheritance in Man (OMIM) is a 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Once someone has this condition, is there anything that can be done to correct the problems caused by the genetic mutation? See answer

  • I have this condition and recently have been having symptoms that compare to hypothyroidism. With this condition is hypothyroidism seen very often? I would appreciate any information you could give me relating to hypohidrotic ectodermal dysplasia with hypothyroidism. See answer

  • Is testing available for hypohidrotic ectodermal dysplasia? How can I find local specialists? See answer


  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.
  2. Wright JT, Grange DK, Richter MK. Hypohidrotic Ectodermal Dysplasia. Gene Reviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-hed.
  3. Ectodermal Dysplasia. DermNet NZ. 2009; http://www.dermnetnz.org/hair-nails-sweat/ectodermal-dysplasia.html.