Hypohidrotic ectodermal dysplasia

Common Name(s)

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).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypohidrotic ectodermal dysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hypohidrotic ectodermal dysplasia" returned 62 free, full-text research articles on human participants. First 3 results:

Atopic diathesis in hypohidrotic/anhidrotic ectodermal dysplasia.
 

Author(s): Hanako Koguchi-Yoshioka, Mari Wataya-Kaneda, Mizuki Yutani, Hiroyuki Murota, Hajime Nakano, Daisuke Sawamura, Ichiro Katayama

Journal: Acta Derm. Venereol.. 2015 Apr;95(4):476-9.

 

Recently, patients with hypohidrotic/anhidrotic ectodermal dysplasia (H/AED) have been reported to have a higher prevalence of symptoms suggestive of atopic disorders than the general population. To better understand atopic diathesis in H/AED, 6 cases of clinically or genetically ...

Last Updated: 15 Apr 2015

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Hypohidrotic ectodermal dysplasia in association with milia.
 

Author(s): Sharad Mehta, Nidheesh Agarwal, Ashok Kumar Khare, C M Kuldeep, Asit Mittal, Lalit Kumar Gupta

Journal: Indian J Dermatol Venereol Leprol. ;80(5):483.

 

Last Updated: 9 Sep 2014

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EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.
 

Author(s): Catarina Falk Kieri, Birgitta Bergendal, Lisbet K Lind, Marcus Schmitt-Egenolf, Christina Stecksén-Blicks

Journal:

 

Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with ...

Last Updated: 4 Jun 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hypohidrotic ectodermal dysplasia" returned 2 free, full-text review articles on human participants. First 3 results:

Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases.
 

Author(s): Marianne Vasconcelos Carvalho, José Romero Souto de Sousa, Filipe Paiva Correa de Melo, Tatiane Fonseca Faro, Ana Clara Nunes Santos, Silvia Carvalho, Ana Paula Veras Sobral

Journal:

 

Ectodermal dysplasias are a large group of syndromes characterized by anomalies in the structures of ectodermal origin. There are 2 major types of this disorder, based on clinical findings: hypohidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. This clinical classification ...

Last Updated: 9 Sep 2013

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Hypohidrotic ectodermal dysplasia.
 

Author(s): A Clarke

Journal: J. Med. Genet.. 1987 Nov;24(11):659-63.

 

Last Updated: 4 Mar 1988

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
 

Status: Recruiting

Condition Summary: X-linked Hypohidrotic Ectodermal Dysplasia

 

Last Updated: 7 May 2015

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Sonography in Hypotension and Cardiac Arrest in the Emergency Department.
 

Status: Recruiting

Condition Summary: Hypotension; Point of Care Ultrasound; Shock

 

Last Updated: 18 Jun 2015

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