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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Recommended Apps

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Relief is when you and the right researcher find each other

Finding the right clinical trial for Hypohidrotic ectodermal dysplasia can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].
 

Author(s): Michele Callea, Francisco Cammarata-Scalisi, Colin E Willoughby, Sabrina R Giglio, Ilaria Sani, Sara Bargiacchi, Giovanna Traficante, Emanuele Bellacchio, Gianluca Tadini, Izzet Yavuz, Angela Galeotti, Gabriella Clarich

Journal: Arch Argent Pediatr. 2017 02;115(1):e34-e38.

 

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, ...

Last Updated: 31 Dec 1969

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A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype.
 

Author(s): Dominik P Waluk, Gila Zur, Ronnie Kaufmann, Monika M Welle, Vidhya Jagannathan, Cord Drögemüller, Eliane J Müller, Tosso Leeb, Arnaud Galichet

Journal:

 

X-linked hypohidrotic ectodermal dysplasia (XLHED) caused by variants in the EDA gene represents the most common ectodermal dysplasia in humans. We investigated three male mixed-breed dogs with an ectodermal dysplasia phenotype characterized by marked hypotrichosis and multifocal ...

Last Updated: 31 Dec 1969

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BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency.
 

Author(s): Armine Darbinyan, Eugene O Major, Susan Morgello, Steven Holland, Caroline Ryschkewitsch, Maria Chiara Monaco, Thomas P Naidich, Joshua Bederson, Joanna Malaczynska, Fei Ye, Ronald Gordon, Charlotte Cunningham-Rundles, Mary Fowkes, Nadejda M Tsankova

Journal:

 

Human BK polyomavirus (BKV) is reactivated under conditions of immunosuppression leading most commonly to nephropathy or cystitis; its tropism for the brain is rare and poorly understood. We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal ...

Last Updated: 31 Dec 1969

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PubMed Article Results at NCBI: 70 article(s)

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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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PubMed Review Results at NCBI: 4 review(s)

 
 
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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia
https://ghr.nlm.nih.gov/gene/EDARADD
https://ghr.nlm.nih.gov/gene/EDA
https://ghr.nlm.nih.gov/gene/EDAR
https://ghr.nlm.nih.gov/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency
https://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia
https://ghr.nlm.nih.gov/condition/clouston-syndrome
https://ghr.nlm.nih.gov/condition/cranioectodermal-dysplasia
https://ghr.nlm.nih.gov/gene/TP63
https://ghr.nlm.nih.gov/gene/KCTD1
https://ghr.nlm.nih.gov/gene/PKP1
https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome
https://ghr.nlm.nih.gov/gene/NFKBIA
https://ghr.nlm.nih.gov/gene/IKBKG
https://ghr.nlm.nih.gov/gene/NECTIN4
https://ghr.nlm.nih.gov/gene/NECTIN1
https://ghr.nlm.nih.gov/gene/CDH3
https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome
https://ghr.nlm.nih.gov/gene/WDR19
https://ghr.nlm.nih.gov/gene/IFT122
Full Results at Genetics Home Reference: 214 matches

There are currently no related results available in GeneReviews.

This information is provided by Genetic Testing Registry.
http://www.ncbi.nlm.nih.gov/gtr/conditions/CN072978
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Hypohidrotic ectodermal dysplasia" (open studies are recruiting volunteers) and 17 "Hypohidrotic ectodermal dysplasia" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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Relief is when you and the right researcher find each other
Finding the right clinical trial for Hypohidrotic ectodermal dysplasia can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More