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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. Small molecules facilitate single factor-mediated sweat gland cell reprogramming Military Medical Research · 2022 · 9 citations
    2. Role of the Autoimmune Regulator (<i>AIRE</i>) gene in alopecia areata: Strong association of a potentially functional <i>AIRE</i> polymorphism with alopecia universalis Tissue Antigens · 2002 · 86 citations
    3. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    4. Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report. Case Reports in Dermatology · 2025
    5. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    6. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    7. Polarized microscopy in genetic hair disorders: case series 2025
    8. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    9. Orai1 expression pattern in tooth and craniofacial ectodermal tissues and potential functions during ameloblast differentiation Developmental Dynamics · 2015 · 15 citations
    10. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    11. Commonly associated disorders with complete scalp alopecia in early childhood: A review International journal of trichology · 2023
    12. Skin Development and Disease: A Molecular Perspective Current Issues in Molecular Biology · 2024 · 15 citations
    13. Morpho-Regulation of Ectodermal Organs ˜The œAmerican journal of pathology · 2004 · 131 citations
    14. Alopecia Areata KARGER eBooks · 2008 · 24 citations
    15. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    16. Stimulation of ectodermal organ development by Ectodysplasin-A1 Developmental Biology · 2003 · 249 citations
    17. The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis Developmental biology · 2007 · 96 citations
    18. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation Nature genetics · 2000 · 694 citations
    19. Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus PLoS Genetics · 2006 · 184 citations
    20. An Extended Epidermal Response Heals Cutaneous Wounds in the Absence of a Hair Follicle Stem Cell Contribution 2007 · 170 citations
    21. DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS Kırıkkale Üniversitesi Tıp Fakültesi Dergisi · 2024
    22. Mediator 1 ablation induces enamel-to-hair lineage conversion in mice through enhancer dynamics Communications biology · 2023 · 1 citations
    23. Highly Upregulated Lhx2 in the Foxn1−/− Nude Mouse Phenotype Reflects a Dysregulated and Expanded Epidermal Stem Cell Niche PloS one · 2013 · 6 citations
    24. The role of hair follicles and Edar signalling in cutaneous wound healing Research Explorer (The University of Manchester) · 2016
    25. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    26. LOOSE ANAGEN SYNDROME AND LOOSE ANAGEN HAIR Dermatologic Clinics · 1996 · 25 citations
    27. Alopecia in Epidermolysis Bullosa Dermatologic Clinics · 2009 · 21 citations
    28. White piedra caused by <i>Trichosporon inkin</i> : a report of two cases in a northern climate British Journal of Dermatology · 2015 · 8 citations
    29. Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment 2018 · 1 citations
    30. Abstracts from the Symposium on the Pathophysiology of Hair Growth Organized by the Institute of Dermatology at the Royal Society of Medicine, 29 October 1987 Clinical and Experimental Dermatology · 1989