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

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
 

Author(s): Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan, Saadullah Khan

Journal:

 

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, ...

Last Updated: 13 Apr 2017

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[A gene study of a family with hidrotic ectodermal dysplasia].
 

Author(s): Wen-Xing Qiao, Li Liu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2016 Nov;18(11):1141-1144.

 

To investigate the clinical features and molecular mechanism of hidrotic ectodermal dysplasia (HED).

Last Updated: 7 Nov 2016

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Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.
 

Author(s): Vanessa Barbaro, Annamaria Assunta Nasti, Paolo Raffa, Angelo Migliorati, Patrizia Nespeca, Stefano Ferrari, Elisa Palumbo, Marina Bertolin, Claudia Breda, Francesco Miceli, Antonella Russo, Luciana Caenazzo, Diego Ponzin, Giorgio Palù, Cristina Parolin, Enzo Di Iorio

Journal: Stem Cells Transl Med. 2016 Aug;5(8):1098-105.

 

: Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant disease caused by mutations in the p63 gene. To date, approximately 40 different p63 mutations have been identified, all heterozygous. No definitive treatments are available to counteract and ...

Last Updated: 21 Jul 2016

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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 9 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 GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 12 May 2017

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Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
 

Status: Recruiting

Condition Summary: Aplasia Cutis Congenita

 

Last Updated: 8 Sep 2016

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Comparison Between Acrylic and Soft Liner Telescopic Overdentures Regarding Patient Satisfaction
 

Status: Not yet recruiting

Condition Summary: Patient Satisfaction; Retention; Periodontal Health

 

Last Updated: 23 Apr 2017

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