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    Glossary Hypohidrotic 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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    1. Molecular basis of hypohidrotic ectodermal dysplasia: an update Journal of Applied Genetics · 2015 · 85 citations
    2. Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia Endocrinology · 2005 · 46 citations
    3. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    4. A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1 Journal of Medical Genetics · 2012 · 17 citations
    5. Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia 2013 · 12 citations
    6. Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib Acta Dermato Venereologica · 2020 · 4 citations
    7. Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands Acta dermato-venereologica · 2017 · 4 citations
    8. Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2021 · 2 citations
    9. Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia Journal of dermatology · 2016 · 2 citations
    10. Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia Pediatria i Medycyna Rodzinna · 2025 · 1 citations
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