Ectodermal Dysplasia

Common Name(s)

Ectodermal Dysplasia, Ectodermal Dysplasias

Ectodermal dysplasias (ED) are a group of about 150 heritable disorders that affect the ectoderm, a layer of tissue that contributes to the formation of many parts of the body, including the skin, sweat glands, hair, teeth, and nails. Symptoms can range from mild to severe and may include dental abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of ectodermal dysplasias are caused by mutations in different genes, and can be inherited in a variety of ways. There are no cures for ED, but many treatments are available to address the individual symptoms.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ectodermal Dysplasia" 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 "Ectodermal Dysplasia" 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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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 "Ectodermal Dysplasia" returned 205 free, full-text research articles on human participants. First 3 results:

Hair shaft structures in EDAR induced ectodermal dysplasia.
 

Author(s): C Stecksén-Blicks, C Falk Kieri, D Hägg, M Schmitt-Egenolf

Journal:

 

Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia with defects in ectodermal appendage development including teeth, skin, exocrine glands and hair. Hair defects are sparsely described in genetically defined samples. The aim of this study was to investigate hair structures ...

Last Updated: 4 Sep 2015

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A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.
 

Author(s): Rabia Habib, Muhammad Ansar, Manuel Mattheisen, Muhammad Shahid, Ghazanfar Ali, Wasim Ahmad, Regina C Betz

Journal:

 

Ectodermal dysplasias (EDs) are a large heterogeneous group of inherited disorders exhibiting abnormalities in ectodermally derived appendages such as hair, nails, teeth and sweat glands. EDs associated with reticulated pigmentation phenotype are rare entities for which the genetic ...

Last Updated: 27 Jun 2015

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An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases.
 

Author(s): Mehmet-Sinan Doğan, Michele Callea, Ìzzet Yavuz, Orhan Aksoy, Gabriella Clarich, Ayse Günay, Ahmet Günay, Sedat Güven, Michele Maglione, Zeki Akkuş

Journal:

 

This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clinical examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental ...

Last Updated: 2 May 2015

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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 "Ectodermal Dysplasia" returned 10 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: 8 Sep 2015

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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: 29 Jan 2016

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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: 9 Sep 2013

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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

Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
 

Status: Recruiting

Condition Summary: Aplasia Cutis Congenita

 

Last Updated: 2 Dec 2015

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Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Simplex; Pachyonychia Congenita

 

Last Updated: 29 Oct 2015

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International Pachyonychia Congenita Research Registry
 

Status: Recruiting

Condition Summary: Pachyonychia Congenita

 

Last Updated: 16 Dec 2014

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