ALLMedicine™ Hypohidrotic Ectodermal Dysplasia Center

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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 ...

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.

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.