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About 145 results

ALLMedicine™ X-linked Hypohidrotic Ectodermal Dysplasia Center

Research & Reviews  53 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...

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...

Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinica...
https://doi.org/10.1002/ajmg.a.62579
American Journal of Medical Genetics. Part A; Chaudhary AK, Gholse A et. al.

Dec 5th, 2021 - Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by mutational inactivation of a developmental pathway responsible for generation of tissues of ectodermal origin. The X-linked form accounts for the majority of HED cases an...

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidroti...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606200
Molecular Genetics & Genomic Medicine; Yu K, Shen Y et. al.

Sep 29th, 2021 - Hypohidrotic ectodermal dysplasia (HED) is mainly caused by ectodysplasin A (EDA) gene mutation. Fetus with genetic deficiency of EDA can be prenatally corrected. This study aimed at revealing the pathogenesis of two HED families and making a pren...

Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusua...
https://doi.org/10.1002/jcu.23020
Journal of Clinical Ultrasound : JCU; Li TG, Ma B et. al.

May 16th, 2021 - X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare congenital genetic disorder caused by mutations in the ectodysplasin A gene, resulting in dysplasia or complete absence of teeth, hair, and sweat glands. XLHED is rarely diagnosed prenat...

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Clinicaltrials.gov  2 results

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...

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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.

see more →