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    Glossary Ectodermal Dysplasia

    genetic disorders affecting skin, hair, nails, teeth, and sweat glands

    Ectodermal Dysplasia (ED) refers to a group of genetic disorders that affect the development of the ectodermal layer, which is responsible for forming the skin, hair, nails, teeth, and sweat glands. Individuals with ED often experience symptoms such as sparse hair, missing or malformed teeth, and an inability to sweat properly, which can lead to overheating.

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    1. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009 · 197 citations
    2. Uncombable hair syndrome: Observations on response to biotin and occurrence in siblings with ectodermal dysplasia Journal of the American Academy of Dermatology · 1985 · 101 citations
    3. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    4. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type Journal of Medical Genetics · 2006 · 60 citations
    5. Ectodermal Dysplasia: Otolaryngologic Manifestations and Management ˜The œLaryngoscope · 2002 · 37 citations
    6. Salivary gland function in persons with ectodermal dysplasias European journal of oral sciences · 2003 · 32 citations
    7. Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome The American Journal of Dermatopathology · 2005 · 31 citations
    8. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    9. Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin International Journal of Dermatology · 2009 · 20 citations
    10. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation European Journal of Dermatology · 2010 · 11 citations
    11. KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia Pediatric Dermatology · 2000 · 6 citations
    12. Hair shaft structures in EDAR induced ectodermal dysplasia BMC Medical Genetics · 2015 · 5 citations
    13. Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay American Journal of Medical Genetics Part A · 2003 · 5 citations
    14. Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia 2016 · 4 citations
    15. Molecular mechanisms of ectodermal dysplasia syndromes Työväentutkimus Vuosikirja · 2004 · 3 citations
    16. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    17. Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report Clinical Case Reports · 2026
    18. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    19. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    20. Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report. Case Reports in Dermatology · 2025
    21. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
    22. Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia Dermatology Online Journal · 2021
    23. 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly 2019
    24. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    25. Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII Helda (University of Helsinki) · 2013
    26. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    27. Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia Australasian Journal of Dermatology · 2004 · 21 citations
    28. Molecular basis of hypohidrotic ectodermal dysplasia: an update Journal of Applied Genetics · 2015 · 85 citations
    29. Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia Endocrinology · 2005 · 46 citations
    30. Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia 2013 · 12 citations