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

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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Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.
 

Author(s): Kyle B Jones, Alice F Goodwin, Maya Landan, Kerstin Seidel, Dong-Kha Tran, Jacob Hogue, Miquella Chavez, Mary Fete, Wenli Yu, Tarek Hussein, Ramsey Johnson, Kenneth Huttner, Andrew H Jheon, Ophir D Klein

Journal: Am. J. Med. Genet. A. 2013 Jul;161A(7):1585-93.

 

Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. X-linked ...

Last Updated: 20 Jun 2013

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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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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: 10 Feb 2015

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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: 14 Oct 2014

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