Results 21 to 30 of about 1,001 (147)

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
doaj   +3 more sources

X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease

Molecular Genetics and Metabolism Reports
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic congenital disorder characterized by allelic heterogeneity, affecting the ectodermal structures.
Yamato Hanawa, Wataru Murasaki, Tatsuya Ando, Yuji Baba, Hiroyuki Namba   +4 more
doaj   +2 more sources

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.

PLoS ONE
Ectodysplasin 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, Martina Bleyer, Jana Schäfer, Bertram Brenig   +3 more
doaj   +2 more sources

A Rare Case of Hypohidrotic Ectodermal Dysplasia

Journal of Clinical and Biomedical Sciences
A wide range of hereditary diseases affecting two or more ectodermally derived tissues together are referred to as ectodermal dysplasias (EDs). The most frequently impacted ectodermal derivatives are the teeth, nails, sweat glands, and hair.
Hariharasubramanian M, Rajashekar T S, Suresh Kumar K, Hanumanthayya K   +3 more
doaj   +2 more sources

Hypohidrotic Ectodermal Dysplasia: A Case Report

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, Humaira, Hanif, Sumera
openaire   +4 more sources

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

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, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey   +11 more
doaj   +1 more source

Prosthodontic Rehabilitation of a Female Child with Ectodermal Dysplasia

Journal 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, Abdul Mueed Zaigham, Maryam Mumtaz   +2 more
doaj   +1 more source

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

Amrita 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, Padmapriya Balakrishnan   +1 more
doaj   +1 more source

Presentation of hypohidrotic ectodermal dysplasia in two siblings

Journal 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, Balaji Babu Bangi, Lavanya Gadapa, Pooja Madki   +3 more
doaj   +1 more source

New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G

Molecular Genetics &Genomic Medicine, Volume 11, Issue 12, December 2023., 2023
Our study points that the very rare splice acceptor variant EDA c.742‐2A>G associates with severe oligodontia and is pathogenic. Abstract Background Ectodermal dysplasias are inherited disorders, which are characterized by congenital defects in two or more ectodermal structures such as skin, sweat glands, hair, nails, teeth, and mucous membranes ...
Vivian Reinhold, Stina Syrjänen, Minna Kankuri‐Tammilehto   +2 more
wiley   +1 more source