Hypohidrotic Ectodermal Dysplasia: A Case Report. [PDF]
Cureus, 2023 Ectodermal dysplasia (ED) is a rare genetic disorder that affects the developmental disturbance of ectoderm-derived tissues, organs, and accessory appendages, i.e. skin, hair, tooth, nail, and sweat glands. ED has two types hypohidrotic or anhidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia.
Shamim H, Hanif S.
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Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants [PDF]
Nature Communications, 2023 EDA variants are associated with X-linked hypohidrotic dysplasia. Here, the authors report the crystal structure of the human EDA-EDAR complex, reveal the important role of this complex in ectodermal development and uncover the structural mechanism of ...
Kang Yu +9 more
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Hypohidrotic ectodermal dysplasia
Indian Dermatology Online Journal, 2015 Vagish Kumar L Shanbhag
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Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia. [PDF]
Children (Basel), 2022 The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin.
Callea M +7 more
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A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses. [PDF]
PLoS ONEEctodysplasin A related hypohidrotic ectodermal dysplasia (XLHED) is a well-studied fetal developmental disorder in mammals that mainly affects ectodermal structures. It has been identified in a variety of species, including mice, rats, dogs, cattle, and
Frederik Krull +3 more
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First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant? [PDF]
Italian Journal of Pediatrics, 2021 Background Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease.
Mario Tumminello +5 more
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Hypohidrotic ectodermal dysplasia
Indian Dermatology Online Journal, 2012 Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and hypodontia.
Saurabh Agarwal, Shalini Gupta
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Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia [PDF]
Case Reports in Ophthalmological Medicine, 2015 We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for ...
Xiaoyun Zhang +4 more
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Hypohidrotic Ectodermal Dysplasia [PDF]
Medical Journal Armed Forces India, 2014 Ectodermal dysplasias are a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures. These tissues include the skin, hair, nails, eccrine glands and teeth.1 Hypohydrotic Ectodermal Dysplasia is the most common type and is usually inherited as an X-linked recessive trait.
Gaurav Pratap Singh, Vivek Saxena
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A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report [PDF]
Molecular Genetics and Metabolism Reports, 2021 Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere +14 more
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