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Hypohidrotic Ectodermal Dysplasias

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Encyclopedia of Molecular Mechanisms of Disease

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Synonyms

Hypohidrotic ectodermal dysplasia; HED; Anhidrotic ectodermal dysplasia; EDA1; Christ-Siemens-Touraine syndrome; X-linked HED XEDA; XHED; XLEDA; XLHED; Hypohidrotic ectodermal dysplasia with immune deficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis and lymphedema; OL-EDA-ID

Definition and Characteristics

Ectodermal appendages are structures other than the epidermis that develop from the embryonic surface ectoderm. These appendages include the teeth, nails, hair, and glandular structures, including eccrine, mammary, Meibomian, salivary and lacrimal glands. The ectodermal dysplasias are a heterogenous group of over 150 distinct disorders characterized by hypoplasia or absence of two or more ectodermal appendage types. Hypohidrotic ectodermal dysplasia (HED) is defined by a combination of characteristic features: variable inability to sweat that can lead to life-threatening hyperthermia, typical facies, hair and nail changes, and dental...

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References

  1. Courtois G, Smahi A (2006) NF-kappaB-related genetic diseases. Cell Death Differ 13:843–851

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  2. Casanova JL (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27:277–285

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  3. Rouse C, Siegfried E, Breer W, Nahass G (2004) Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization. Arch Dermatol 140:850–855

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Author information

Authors and Affiliations

  1. Faculty of Life Sciences, University of Manchester, Manchester, UK

    Denis J. Headon

  2. Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA

    Paul A. Overbeek

  3. Texas Children’s Hospital, Houston, TX, USA

    Alanna F. Bree

Authors
  1. Denis J. Headon
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  2. Paul A. Overbeek
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  3. Alanna F. Bree
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Editor information

Editors and Affiliations

  1. Institute of Physiology, University of Tuebingen, Tuebingen, Germany

    Florian Lang (Prof.) (Prof.)

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© 2009 Springer-Verlag GmbH Berlin Heidelberg

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Headon, D.J., Overbeek, P.A., Bree, A.F. (2009). Hypohidrotic Ectodermal Dysplasias. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_535

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