Results 1 to 10 of about 232 (106)

Hypohidrotic ectodermal dysplasia

open access: yesIndian 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
doaj   +8 more sources

Hypohidrotic ectodermal dysplasia [PDF]

open access: yesIndian 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
doaj   +5 more sources

Hypohidrotic Ectodermal Dysplasia [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2021
Chiranjit Ghosh   +2 more
doaj   +6 more sources

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

open access: yesAllergy, 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
doaj   +1 more source

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

open access: yesMolecular 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
doaj   +1 more source

Prosthodontic Rehabilitation of a Female Child with Ectodermal Dysplasia

open access: yesJournal of the Dow University of Health Sciences, 2021
Ectodermal Dysplasia (ED) is an X-linked inherited disorder with male predominance. Female patients may show partial expression of Ectodermal Dysplasia. Significant findings include hypodontia, hyposalivation, protuberant lips, conical teeth and loss of
Aleshba Saba Khan   +2 more
doaj   +1 more source

Anhidrotic Ectodermal Dysplasia in an Adolescent Boy Case Report and Review of Literature

open access: yesAmrita Journal of Medicine, 2021
Ectodermal dysplasia is a rare genetic disorder due to defects in structures derived from ectoderm. It occurs due to mutation in genes that encode proteins involved in the development of ectodermal structures.
Thirunavukkarasu Arun Babu   +1 more
doaj   +1 more source

Presentation of hypohidrotic ectodermal dysplasia in two siblings

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2015
Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder.
Uday Ginjupally   +3 more
doaj   +1 more source

Ectodermal dysplasia

open access: yesČeská Stomatologie a Praktické Zubní Lékařství, 2013
Background: Ectodermal dysplasia is a rare, genetically determined disease, which is characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands.
L. Kramerová, E. Kaplová
doaj   +1 more source

Hypohidrotic ectodermal dysplasia

open access: yesDermatology Online Journal, 2008
We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and ...
Lu, Phoebe D, Schaffer, Julie V
openaire   +4 more sources

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