HYPOHIDROTIC ECTODERMAL DYSPLASIA PDF

Presentation[ edit ] Actor Michael Berryman displays outward symptoms of the condition Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat hypohidrosis because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. An inability to sweat can lead to a dangerously high body temperature hyperthermia particularly in hot weather. In some cases, hyperthermia can cause life-threatening medical problems.

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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Click on the link above to view this information page.

This website is maintained by the National Library of Medicine. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. In-Depth Information GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Medscape Reference provides information on ectodermal dysplasias.

Click on the link to view information on this topic. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition. Each entry has a summary of related medical articles.

It is meant for health care professionals and researchers. PubMed is a searchable database of medical literature and lists journal articles that discuss Hypohidrotic ectodermal dysplasia. Click on the link to view a sample search on this topic. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Submit a new question Once someone has this condition, is there anything that can be done to correct the problems caused by the genetic mutation? See answer I have this condition and recently have been having symptoms that compare to hypothyroidism. With this condition is hypothyroidism seen very often? I would appreciate any information you could give me relating to hypohidrotic ectodermal dysplasia with hypothyroidism.

See answer Is testing available for hypohidrotic ectodermal dysplasia? How can I find local specialists? See answer.

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Hypohidrotic ectodermal dysplasia

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Click on the link above to view this information page.

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Hypohidrotic Ectodermal Dysplasia

Recurrent pneumonia and asthma-like symptoms related to abnormal bronchial glands [ Dietz et al ] Raspy voice Physical growth and psychomotor development are otherwise within normal limits. Females with XLHED may exhibit mild manifestations of any or all the cardinal features: some sparseness of the hair, patchy distribution of sweat dysfunction, and a few small or missing teeth. They may also notice deficient milk production during nursing or have underdeveloped nipples. Also unlike other forms of HED, the deciduous dentition may be almost completely present but with abnormally shaped teeth, while there is often severe hypodontia of the adult dentition. There may be hyperhidrosis involving the palms and soles with decreased sweating on the rest of the body. Recent investigations suggest that most EDA pathogenic variants associated with nonsyndromic hypodontia are missense variants with most located in the region encoding the tumor necrosis factor domain. Many pathogenic variants associated with X-linked HED are thought to be loss-of-function variants including nonsense variants, insertions, and deletions that span the gene [ Zhang et al ].

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