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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 Genetic Mapping of Hereditary Ectodermal Dysplasias and Hair Loss Genes

January 2011

Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.

research Edar Signaling in the Control of Hair Follicle Development

71 citations , November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

Edar signaling is crucial for proper hair follicle development and function.

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.

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.

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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