Diseases & Conditions


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Hypohidrotic Ectodermal Dysplasia


Synonyms of Hypohidrotic Ectodermal Dysplasia
  • Anhidrotic Ectodermal Dysplasia
  • Christ-Siemens-Touraine Syndrome
  • CST Syndrome
  • EDA
  • HED

Disorder Subdivisions



    General Discussion
    Hypohidrotic ectodermal dysplasia (HED) is a rare inherited multisystem disorder that belongs to the group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. HED is primarily characterized by partial or complete absence of certain sweat glands (eccrine glands), causing lack of or diminished sweating (anhidrosis or hypohidrosis), heat intolerance, and fever; abnormally sparse hair (hypotrichosis); and absence (hypodontia) and/or malformation of certain teeth. Many individuals with HED also have characteristic facial abnormalities including a prominent forehead, a sunken nasal bridge (so-called saddle nose), unusually thick lips, and/or a large chin. The skin on most of the body may be abnormally thin, dry, and soft with an abnormal lack of pigmentation (hypopigmentation). However, the skin around the eyes (periorbital) may be darkly pigmented (hyperpigmentation) and finely wrinkled, appearing prematurely aged. In many cases, affected infants and children may also exhibit underdevelopment (hypoplasia) or absence (aplasia) of mucous glands within the respiratory and gastrointestinal (GI) tracts and, in some cases, decreased function of certain components of the immune system (e.g., depressed lymphocyte function, cellular immune hypofunction), potentially causing an increased susceptibility to certain infections and/or allergic conditions. Many affected infants and children experience recurrent attacks of wheezing and breathlessness (asthma); respiratory infections; chronic inflammation of the nasal passages (atrophic rhinitis); scaling, itchy (pruritic) skin rashes (eczema); and/or other findings.

    HED is usually inherited as an X-linked recessive genetic trait; in such cases, the disorder is fully expressed in males only. However, females who carry a single copy of the disease gene (heterozygote carreirs) may exhibit some of the symptoms and findings associated with the disorder. These may include absence and/or malformation of certain teeth, sparse hair, and/or reduced sweating. Researchers also have reported cases in which HED appears to be inherited as an autosomal recessive genetic trait. In such cases, the disorder is fully expressed in both males and females.

    Organizations related to Hypohidrotic Ectodermal Dysplasia
    • Ectodermal Dysplasia Society
      108 Charlton Lane
      Glos. None GL53 9EA
      Phone #: +44- 12-42 261332
      800 #: N/A
      e-mail: diana@ectodermaldysplasia.org
      Home page: http://www.ectodermaldysplasia.org
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • NIH/National Oral Health Information Clearinghouse
      1 NOHIC Way
      Bethesda MD 20892-3500
      Phone #: 301-402-7364
      800 #: --
      e-mail: nohic@nidcr.nih.gov
      Home page: http://www.nohic.nidcr.nih.gov
    • National Foundation for Ectodermal Dysplasias
      410 East Main Street
      Mascoutah IL 62258-0114
      Phone #: 618-566-2020
      800 #: --
      e-mail: info@nfed.org
      Home page: http://www.nfed.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html