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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ectodermal Dysplasia Anhidrotic" 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 "Ectodermal Dysplasia Anhidrotic" returned 35 free, full-text research articles on human participants. First 3 results:

Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report.
 

Author(s): Lian Chen, Yang-Yu Zhao, Yuan Wei, Yan Wang, Yan Zhang, Yong-Qing Wang, Jian-Ying Liu, Yong Yang, Yan-Hong Tan

Journal: Chin. Med. J.. 2012 Sep;125(17):3177-9.

 

Anhidrotic ectodermal dysplasia (EDA) is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic ...

Last Updated: 30 Aug 2012

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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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Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins.
 

Author(s): G O Ogunrinde, R O Zubair, S O Ajike, S O Ige

Journal: Niger J Clin Pract. ;15(1):98-100.

 

Autosomal recessive hereditary ectodermal dysplasia (HED) has not been described in sub-Saharan Africa. It is acknowledged to be rarer than the occasionally reported x-linked and autosomal dominant variants. We report a pair of Nigerian female twins with family history and clinical ...

Last Updated: 22 Mar 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 3 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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Anhidrotic Ectodermal Dysplasia (Christ-Seimens-Touraine syndrome)--case report with a review.
 

Author(s): G Ali, M Kumar, R Verma, V Khajuria, M B Wadhwa

Journal: Indian J Med Sci. 2000 Dec;54(12):541-4.

 

Anhidrotic ectodermal dysplasia commonly transmitted as an x-linked recessive disorder is very rare. The complete syndrome occurs in males and females are carriers. Our patients comprised two sisters who had the complete syndrome. This is much rarer and is reported to be inherited ...

Last Updated: 16 May 2001

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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: 25 Apr 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: 26 Mar 2014

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