Hypohidrotic ectodermal dysplasia X-linked

Common Name(s)

Hypohidrotic ectodermal dysplasia X-linked, Christ-Siemens-Touraine syndrome, XLHED

Hypohirotic ectodermal dysplasia, X-linked (XLHED) is a rare genetic condition linked to the X-chromosome. XHLED affects ectodermal tissues including the nervous system, tooth enamel, and outer skin layer called the epidermis. It is the most common of the many forms of ectodermal dysplasia. It is characterized by the inability to sweat, sparse body and scalp hair, and missing and/or pointed teeth. Other symptoms include dry mouth and nostrils, dry or rough skin, bad smelling discharge from the nose, and a greater risk of respiratory infections and asthma. Due to the lack of fully developed sweat glands, individuals with this condition cannot properly cool their body temperature through sweating and can easily become overheated. Persons with XLHED share similar facial characteristics such as thin, wrinkled and dark skin beneath the eyes, a shallow or depressed nasal bridge and small jaw. There is currently no cure for the condition, but there are treatments. Due to the lack of sweat glands, individuals with XLHED often wear cooling vests, drink cool fluids regularly, and mist themselves with water. They are encouraged to avoid activities that may cause them to overheat such as sports. Creams and lotions may be used to treat the dry skin. Research is being conducted and there are hopes of potential treatments that will alter the symptoms of XLHED and improve the lives of those affected.

XLHED is caused by an error in the EDA gene on the X-chromosome. Because it is X-linked, it mostly occurs in males. However, female carriers may present with mild to severe symptoms. In some cases, genetic testing is available. A genetic counselor can help in understanding the genetic basis and recurrence risks of XLHED. Talk to your doctor for the most up to date treatments for XLHED if you or your child is affected. Support groups can also be a good source of information and can help you connect with other families affected with XHLED.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

Last Updated: 7 May 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 7 May 2014

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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 X-linked" returned 26 free, full-text research articles on human participants. First 3 results:

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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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 X-linked" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.