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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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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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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Hypohidrotic ectodermal dysplasia: A rare entity. [PDF]
J Oral Maxillofac Pathol, 2023 Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin, hair, nails, teeth, and sweat glands.
Srivastava H +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 [PDF]
Indian Dermatology Online Journal, 2015 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.
Vagish Kumar L Shanbhag
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Hypohidrotic ectodermal dysplasia [PDF]
Przegląd Dermatologiczny, 2021 Piotr Jarliński +4 more
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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy [PDF]
Allergy, Asthma & Clinical Immunology, 2021 X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase ...
Bhavi P. Modi +11 more
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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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X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease [PDF]
Molecular Genetics and Metabolism ReportsX-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic congenital disorder characterized by allelic heterogeneity, affecting the ectodermal structures.
Yamato Hanawa +4 more
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