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 64 free, full-text research articles on human participants. First 3 results:

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.
 

Author(s): J J Xue, B Tan, Q P Gao, G S Zhu, D S Liang, L Q Wu

Journal:

 

This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). A family clinically diagnosed with XLHED was investigated. For mutation analysis, the coding region of EDA ...

Last Updated: 4 Dec 2015

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A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
 

Author(s): Daxu Li, Ran Xu, Fumeng Huang, Biyuan Wang, Yu Tao, Zijian Jiang, Hairui Li, Jianfeng Yao, Peng Xu, Xiaokang Wu, Le Ren, Rui Zhang, John R Kelsoe, Jie Ma

Journal: J. Genet.. 2015 Mar;94(1):115-9.

 

Last Updated: 7 Apr 2015

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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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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 4 free, full-text review articles on human participants. First 3 results:

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.
 

Author(s): S X Huang, J L Liang, W G Sui, H Lin, W Xue, J J Chen, Y Zhang, W W Gong, Y Dai, M L Ou

Journal:

 

Ectodermal dysplasia (ED) represents a collection of rare disorders that result from a failure of development of the tissues derived from the embryonic ectoderm. ED is often associated with hair, teeth, and skin abnormalities, which are serious conditions affecting the quality of ...

Last Updated: 8 Sep 2015

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Molecular basis of hypohidrotic ectodermal dysplasia: an update.
 

Author(s): Wieslaw H Trzeciak, Ryszard Koczorowski

Journal: J. Appl. Genet.. 2016 Feb;57(1):51-61.

 

Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal ...

Last Updated: 29 Jan 2016

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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