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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 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 Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia

46 citations , March 2005 in “Endocrinology”

Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.

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.

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