Ectodermal Dysplasia Anhidrotic

Common Name(s)

Ectodermal Dysplasia Anhidrotic

Anhidrotic ectodermal dysplasia is a rare genetic condition that affects a person’s hair, skin, teeth, and sweat glands. People with ectodermal dysplasia are usually born with wiry, brittle, and pale hair with milky white nails. Their skin is often dry, wrinkled, and darker in color around their joints. People with ectodermal dysplasia usually have missing teeth, or teeth that are small and pointed. Their sweat glands may not work like other peoples causing them to easily overheat. This is because they can not sweat as much as other people, meaning that they can not cool off and their body temperature can get too high. Talk with your doctor to find the best treatment for you if you have been diagnosed with anhidrotic ectodermal dysplasia.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ectodermal Dysplasia Anhidrotic" for support, advocacy or research.

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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 "Ectodermal Dysplasia Anhidrotic" returned 37 free, full-text research articles on human participants. First 3 results:

Atopic diathesis in hypohidrotic/anhidrotic ectodermal dysplasia.
 

Author(s): Hanako Koguchi-Yoshioka, Mari Wataya-Kaneda, Mizuki Yutani, Hiroyuki Murota, Hajime Nakano, Daisuke Sawamura, Ichiro Katayama

Journal: Acta Derm. Venereol.. 2015 Apr;95(4):476-9.

 

Recently, patients with hypohidrotic/anhidrotic ectodermal dysplasia (H/AED) have been reported to have a higher prevalence of symptoms suggestive of atopic disorders than the general population. To better understand atopic diathesis in H/AED, 6 cases of clinically or genetically ...

Last Updated: 15 Apr 2015

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Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome.
 

Author(s): Flora Ngadjeua, Jeanne Chiaravalli, François Traincard, Bertrand Raynal, Elisabeth Fontan, Fabrice Agou

Journal: J. Biol. Chem.. 2013 Nov;288(47):33722-37.

 

Hypomorphic mutations in the X-linked human NEMO gene result in various forms of anhidrotic ectodermal dysplasia with immunodeficiency. NEMO function is mediated by two distal ubiquitin binding domains located in the regulatory C-terminal domain of the protein: the coiled-coil 2-leucine ...

Last Updated: 25 Nov 2013

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Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
 

Author(s): Tomoki Kawai, Ryuta Nishikomori, Kazushi Izawa, Yuuki Murata, Naoko Tanaka, Hidemasa Sakai, Megumu Saito, Takahiro Yasumi, Yuki Takaoka, Tatsutoshi Nakahata, Tomoyuki Mizukami, Hiroyuki Nunoi, Yuki Kiyohara, Atsushi Yoden, Takuji Murata, Shinya Sasaki, Etsuro Ito, Hiroshi Akutagawa, Toshinao Kawai, Chihaya Imai, Satoshi Okada, Masao Kobayashi, Toshio Heike

Journal: Blood. 2012 Jun;119(23):5458-66.

 

Somatic mosaicism has been described in several primary immunodeficiency diseases and causes modified phenotypes in affected patients. X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the NF-κB essential modulator (NEMO) ...

Last Updated: 8 Jun 2012

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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 Anhidrotic" returned 2 free, full-text review articles on human participants. First 3 results:

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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.