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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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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.

A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

17 citations, August 2012 in “Journal of Medical Genetics”

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

research Topical Minoxidil Treatment for Congenital Alopecia in Hypohidrotic Ectodermal Dysplasia

12 citations, March 2013

Minoxidil cream can safely treat hair loss in kids with ectodermal dysplasia.

research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands

4 citations, January 2017 in “Acta dermato-venereologica”

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

research Increased Risk of Chronic Fatigue and Hair Loss Following COVID-19 in Individuals with Hypohidrotic Ectodermal Dysplasia

2 citations, September 2021 in “Orphanet Journal of Rare Diseases”

People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.

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