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

Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.
 

Author(s): Wei Yin, Xiaoqian Ye, Huali Fan, Zhuan Bian

Journal:

 

Hypodontia, hypohidrosis, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency. Heterozygous female carriers tend to have mild to moderate XLHED phenotype, even ...

Last Updated: 29 Apr 2013

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Psychoeducational characteristics of children with hypohidrotic ectodermal dysplasia.
 

Author(s): Rolanda A Maxim, Samuel H Zinner, Hisako Matsuo, Theresa M Prosser, Mary Fete, Terry L Leet, Timothy J Fete

Journal: ScientificWorldJournal. 2012 ;2012():532371.

 

Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial.

Last Updated: 26 Apr 2012

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[Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia].
 

Author(s): Julio C Salas-Alanis, Rodrigo Cepeda-Valdés, Adriana González-Santos, Mario Amaya-Guerra, Mazen Kurban, Angela M Christiano

Journal: Rev Med Chil. 2011 Dec;139(12):1601-4.

 

Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are ...

Last Updated: 26 Mar 2012

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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

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
 

Status: Recruiting

Condition Summary: X-Linked Hypohidrotic Ectodermal Dysplasia

 

Last Updated: 25 Apr 2014

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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: 26 Mar 2014

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