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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 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 Orai1 Expression Pattern in Tooth and Craniofacial Ectodermal Tissues and Potential Functions During Ameloblast Differentiation

15 citations , July 2015 in “Developmental Dynamics”

Orai1 protein is crucial for tooth development and affects enamel thickness and mineralization.

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.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

30 citations , June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

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