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

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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Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.
 

Author(s): Ali Azar, Chiara Piccinelli, Helen Brown, Denis Headon, Michael Cheeseman

Journal: Hum. Mol. Genet.. 2016 Aug;25(16):3564-3577.

 

Hypohidrotic ectodermal dysplasia (HED) results from mutation of the EDA, EDAR or EDARADD genes and is characterized by reduced or absent eccrine sweat glands, hair follicles and teeth, and defective formation of salivary, mammary and craniofacial glands. Mouse models with HED also ...

Last Updated: 31 Dec 1969

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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: 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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