Search

for
Search:

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.

Related Terms

Learn

0 / 0 results

— no results

Research

5 / 247 results

research Molecular Basis of Hypohidrotic Ectodermal Dysplasia: An Update

85 citations , August 2015 in “Journal of Applied Genetics”

Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.

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.

research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia

1 citations , November 2017 in “Expert opinion on orphan drugs”

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

research X-Linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab

January 2026 in “Acta Dermato Venereologica”

Dupilumab effectively treats severe skin issues in a rare genetic disorder.

research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia

June 2024 in “Genes”

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

View more "hypohidrotic ectodermal dysplasias" in research →

Community Join

0 / 0 results

— no results