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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. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    3. 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
    4. Salivary gland function in persons with ectodermal dysplasias European journal of oral sciences · 2003 · 32 citations
    5. Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin International Journal of Dermatology · 2009 · 20 citations
    6. 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
    7. Hair shaft structures in EDAR induced ectodermal dysplasia BMC Medical Genetics · 2015 · 5 citations
    8. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    9. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    10. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
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