Hypohidrotic Ectodermal Dysplasia
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hypohidrotic Ectodermal Dysplasia is not the name you expected.
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, sweat glands, 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, and rarely 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 and is caused by a mutation in the ectodysplasin-A (EDA) gene; in such cases, the disorder is fully expressed in males only. However, females who carry a single copy of the disease gene (heterozygote carriers) 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. HED can also be inherited as an autosomal dominant or autosomal recessive genetic trait, caused by mutations in the EDAR or EDARADD genes. In such cases, the disorder is fully expressed in both males and females.
Ectodermal Dysplasia Society
- Unit 1 Maida Vale Business Centre
- England, GL53 7ER
- United Kingdom
- Tel: 4401242261332
- Tel: 4407805775703
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- Website: http://www.ectodermaldysplasia.org
Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
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March of Dimes
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
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- Tel: (301)495-4484
- Fax: (301)718-6366
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- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
NIH/National Institute of Dental and Craniofacial Research
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National Foundation for Ectodermal Dysplasias
- 6 Executive Drive
- Suite 2
- Fairview Hights, IL 62208
- Tel: 618-566-2020
- Fax: 618-566-4718
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- Website: http://www.nfed.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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Last Updated: 4/2/2014
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