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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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]
Ital J Pediatr, 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.
Tumminello M +5 more
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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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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
Krull F, Bleyer M, Schäfer J, Brenig B.
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Early recognition of hypohidrotic ectodermal dysplasia [PDF]
Head & Face Medicine, 2012 Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, hypoplasia of sweat, sebaceous, submucous, meibomian and mammary glands, hypotrichosis, and oligodontia. In early childhood, HED is a life-threatening disorder based on the risks for hyperthermia and pneumonia.
Schneider Holm
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Hypohidrotic ectodermal dysplasia and physical exercise [PDF]
Head & Face Medicine, 2012 Because of their lack of sweat glands, individuals with hypohidrotic ectodermal dysplasia (HED) are assumed to be at risk of severe hyperthermia during exercise in a warm environment. If pediatric HED patients ask whether they may practice competitive sports, most physicians are hesitant to give recommendations other than swimming, which is unlikely to
Hammersen Johanna E
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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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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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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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EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]
Genes (Basel)Hypohidrotic ectodermal dysplasia is a developmental defect characterized by sparse or absent hair, missing or malformed teeth and defects in eccrine glands. Loss-of-function variants in the X-chromosomal EDA gene have been reported to cause hypohidrotic
Rietmann SJ +5 more
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