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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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    Research 30 of 241

    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
    11. Advances in the genetic understanding of hypohidrotic ectodermal dysplasia Expert opinion on orphan drugs · 2017 · 1 citations
    12. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    13. X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab Acta Dermato Venereologica · 2026
    14. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    15. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia American Journal of Medical Genetics · 2014 · 35 citations
    16. Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging American Journal of Medical Genetics - Part A · 2013 · 15 citations
    17. An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia Cureus · 2024
    18. A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family BMC Pregnancy and Childbirth · 2025
    19. Molecular mechanisms of ectodermal dysplasia syndromes Työväentutkimus Vuosikirja · 2004 · 3 citations
    20. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    21. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes 2011
    22. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    23. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    24. Ectodermal Dysplasia: Otolaryngologic Manifestations and Management ˜The œLaryngoscope · 2002 · 37 citations
    25. Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia American Journal of Human Genetics · 2007 · 109 citations
    26. Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies International reviews of immunology · 2015 · 9 citations
    27. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    28. Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency Molecular and Cellular Biology · 2004 · 75 citations
    29. Edar Signaling in the Control of Hair Follicle Development 2005 · 71 citations
    30. Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development 2012 · 48 citations