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GlossaryHypohidrotic Ectodermal Dysplasia

genetic disorder causing sparse hair, missing teeth, and reduced sweating

Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. Individuals with HED often have sparse hair, missing or malformed teeth, and an inability to sweat properly, which can lead to overheating. This condition is also known as anhidrotic ectodermal dysplasia or Christ-Siemens-Touraine syndrome.

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research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease

32 citations, January 1971 in “Annals of Internal Medicine”

People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.

research Scleromyxedema With Neurologic Involvement: Therapy With Intravenous Immunoglobulin

February 2010 in “Journal of the American Academy of Dermatology”

Umbilical cord blood transplantation improved the boy's symptoms despite complications.

research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia

35 citations, April 2014 in “American Journal of Medical Genetics”

Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.

research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects

25 citations, September 2005 in “Journal of the American Academy of Dermatology”

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development

48 citations, January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology”

Chemokine signaling is important for hair development.

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