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

Ophthalmic manifestations in patients with ectodermal dysplasia syndromes.
 

Author(s): Ugur Keklikci, Izzet Yavuz, Selcuk Tunik, Zelal Baskan Ulku, Sedat Akdeniz

Journal: Adv Clin Exp Med. ;23(4):605-10.

 

Ectodermal dysplasia (ED) is a disorder that results from abnormal formation of at least two of the four major ectodermal derivatives in the developing embryo. The ectoderm of the embryo forms the skin, teeth, hair and nails, sweat glands and part of the eyes.

Last Updated: 29 Aug 2014

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Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
 

Author(s): Gabriela Petrof, Arti Nanda, Jake Howden, Takuya Takeichi, James R McMillan, Sophia Aristodemou, Linda Ozoemena, Lu Liu, Andrew P South, Celine Pourreyron, Dimitra Dafou, Laura E Proudfoot, Hejab Al-Ajmi, Masashi Akiyama, W H Irwin McLean, Michael A Simpson, Maddy Parsons, John A McGrath

Journal: Am. J. Hum. Genet.. 2014 Sep;95(3):308-14.

 

Grainyhead-like 2, encoded by GRHL2, is a member of a highly conserved family of transcription factors that play essential roles during epithelial development. Haploinsufficiency for GRHL2 has been implicated in autosomal-dominant deafness, but mutations have not yet been associated ...

Last Updated: 6 Sep 2014

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EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.
 

Author(s): Catarina Falk Kieri, Birgitta Bergendal, Lisbet K Lind, Marcus Schmitt-Egenolf, Christina Stecksén-Blicks

Journal:

 

Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with ...

Last Updated: 4 Jun 2014

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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 8 free, full-text review articles on human participants. First 3 results:

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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Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
 

Author(s): Tomoki Kawai, Ryuta Nishikomori, Toshio Heike

Journal: Allergol Int. 2012 Jun;61(2):207-17.

 

Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized according to its various manifestations, which include ectodermal dysplasia, vascular anomalies, osteopetrosis, and diverse immunological abnormalities such as susceptibility to pathogens, impaired antibody ...

Last Updated: 28 May 2012

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X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle.
 

Author(s): Cord Drögemüller, Ottmar Distl, Tosso Leeb

Journal: Genet. Sel. Evol.. 2003 ;35 Suppl 1():S137-45.

 

Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle. Here, we review the cloning, mutation analyses, and functional studies of the known causative genes for the X-chromosomal ...

Last Updated: 20 Aug 2003

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
 

Status: Recruiting

Condition Summary: X-Linked Hypohidrotic Ectodermal Dysplasia

 

Last Updated: 14 Oct 2014

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Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
 

Status: Recruiting

Condition Summary: X-linked Hypohidrotic Ectodermal Dysplasia

 

Last Updated: 14 Oct 2014

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