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About 360 results

ALLMedicine™ Hypohidrotic Ectodermal Dysplasia Center

Research & Reviews  136 results

Reproductive decision-making by women with X-linked hypohidrotic ectodermal dysplasia.
https://doi.org/10.1111/jdv.18267
Journal of the European Academy of Dermatology and Venere... Leo B, Schneider H et. al.

May 26th, 2022 - In X-linked hypohidrotic ectodermal dysplasia (XLHED), ectodysplasin A1 (EDA1) deficiency results in malformation of hair, teeth and sweat glands. Lack of sweating which can cause life-threatening hyperthermia is amenable to intrauterine therapy w...

Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia
https://clinicaltrials.gov/ct2/show/NCT05378932

May 18th, 2022 - Ectodermal dysplasias (ED) are rare genetic diseases characterized by a developmental abnormality of at least two of the following ectodermal derivatives: teeth, nails, pilosity and glands. In the hypohidrotic form (HED), dental abnormalities (oli...

The EDA-deficient mouse has Zymbal's gland hypoplasia and acute otitis externa.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8990926
Disease Models & Mechanisms; Del-Pozo J, Headon DJ et. al.

Feb 3rd, 2022 - In mice, rats, dogs and humans, the growth and function of sebaceous glands and eyelid Meibomian glands depend on the ectodysplasin signalling pathway. Mutation of genes encoding the ligand EDA, its transmembrane receptor EDAR and the intracellula...

Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia.
https://doi.org/10.1007/978-3-030-78787-5_41 10.4238/2015.August.28.21 10.1002/ajmg.a.32855 10.1002/ajmg.a.61493 10.1111/ijd.14048 10.1007/s13353-015-0307-4 10.4103/JCAS.JCAS_17_19 10.1002/pd.325 10.1038/sj.ejhg.5200871 10.1002/(SICI)1097-0223(199603)16:3<262::AID-PD841>3.0.CO;2-F 10.1007/978-3-030-32633-3_28
Advances in Experimental Medicine and Biology; Yapijakis C, Gintoni I et. al.

Jan 14th, 2022 - Hypohidrotic ectodermal dysplasia (HED) is an X-linked recessive disorder, characterised by abnormally developed ectodermal tissues (sweat glands, enamel, hair, nails). HED is caused by mutations of the EDA1 gene (Xq13.1) which codes for ectodyspl...

Dimensional Changes in Dental Arches after Complete Dentures Rehabilitation of a Patien...
https://doi.org/10.17796/1053-4625-45.6.9
The Journal of Clinical Pediatric Dentistry; de Castro AMGS, Nahás Pires Corrêa MS et. al.

Jan 8th, 2022 - This case report presents the dimensional changes in dental arches in a patient with hypohidrotic ectodermal dysplasia (HED) after complete denture rehabilitation, with an 18-year follow-up period. The patient had complete anodontia and was succes...

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Clinicaltrials.gov  5 results

Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia
https://clinicaltrials.gov/ct2/show/NCT05378932

May 18th, 2022 - Ectodermal dysplasias (ED) are rare genetic diseases characterized by a developmental abnormality of at least two of the following ectodermal derivatives: teeth, nails, pilosity and glands. In the hypohidrotic form (HED), dental abnormalities (oli...

Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia
https://clinicaltrials.gov/ct2/show/NCT01135888

Aug 19th, 2021 - Because of their lack of sweat glands individuals with hypohidrotic ectodermal dysplasia (HED) are at particular risk of life-threatening hyperthermia during exercise in a warm environment. In this study, the effects of physical exercise are inves...

Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
https://clinicaltrials.gov/ct2/show/NCT01992289

Sep 5th, 2017 - X-linked hypohidrotic ectodermal dysplasia (XLHED) is a disorder of ectoderm development in which sweat and other secretory gland hypoplasias predispose affected infants to serious and potentially life-threatening hyperthermia and pneumonia. Those...

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
https://clinicaltrials.gov/ct2/show/NCT02099552

Sep 5th, 2017 - Important to the development and regulatory approval of therapies for XLHED will be the collection of data on the clinical history and prospective health of those affected by XLHED. The proposed natural history study will enroll male and female pa...

Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
https://clinicaltrials.gov/ct2/show/NCT01386775

Jun 28th, 2012 - This pilot study in affected HED males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and in a subset of subjects to collect clipped scalp...

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News  3 results

FDA Awards Research Grants for 18 Rare Diseases, Including HPV-Related Oropharyngeal Cancer
https://www.onclive.com/view/fda-awards-research-grants-for-18-rare-diseases-including-hpv-related-oropharyngeal-cancer

Dec 4th, 2020 - Gayatri R. Rao, MD, JD Eighteen new research grants, totaling more than $19 million, have been awarded by the FDA for product development in rare diseases such as HPV-related head and neck cancer and recurrent glioblastoma, the regulatory agency ...

Intrauterine therapy showed promise in XLHED
https://www.mdedge.com/familymedicine/article/164211/rare-diseases/intrauterine-therapy-showed-promise-xlhed
Pediatric News; Amy Karon

Apr 25th, 2018 - Intra-amniotic therapy with a novel recombinant protein enabled three patients with X-linked hypohidrotic ectodermal dysplasia (XLHED) to sweat normally, researchers reported. For up to 22 months of postnatal follow-up, patients had no hyperthermi.

Intrauterine therapy showed promise in XLHED
https://www.mdedge.com/pediatrics/article/164211/rare-diseases/intrauterine-therapy-showed-promise-xlhed
Amy Karon

Apr 25th, 2018 - Intra-amniotic therapy with a novel recombinant protein enabled three patients with X-linked hypohidrotic ectodermal dysplasia (XLHED) to sweat normally, researchers reported. For up to 22 months of postnatal follow-up, patients had no hyperthermi.

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