ArticleFrontiers in genetics2022
Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Outcomes of dental implant treatment in 3-18 year old children with ectodermal dysplasia: a systematic review spanning three decades.BMC oral health · 2025Pooled it
- Prenatal sonographic clues suggestive of hypohidrotic ectodermal dysplasia in a fetus: a case description.Quantitative imaging in medicine and surgery · 2026Article
- Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia.Orphanet journal of rare diseases · 2026Article
- Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure.Orphanet journal of rare diseases · 2026Article
- Case Report: Novel pathogenic variant in autosomal recessiveFrontiers in genetics · 2026Article
- Primary Intraosseous Vascular Malformation in a Child withDentistry journal · 2025Article
- Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.Orphanet journal of rare diseases · 2025Article
- Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.Orphanet journal of rare diseases · 2024Article
- Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1.Cureus · 2023Article
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- Ectodermal Dysplasia - An Overview and Update.Indian dermatology online journalReview
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The past decade has witnessed an expansion of molecular approaches facilitating the differential diagnosis of ectodermal dysplasias, a group of genetic diseases characterized by the lack or malformation of hair, teeth, nails, and certain eccrine glands. Moreover, advances in translational research have increased the therapeutic opportunities for such rare diseases, and new dental, surgical, and ophthalmic treatment options are likely to offer relief to many individuals affected by ectodermal dysplasias. In X-linked hypohidrotic ectodermal dysplasia (XLHED), the genetic deficiency of the signaling molecule ectodysplasin A1 (EDA1) may even be overcome before birth by administration of a recombinant replacement protein. This has been shown at least for the key problem of male subjects with XLHED, the nearly complete absence of sweat glands and perspiration which can lead to life-threatening hyperthermia. Prenatal treatment of six boys by injection of an EDA1 replacement protein into the amniotic fluid consistently induced the development of functional sweat glands. Normal ability to sweat has so far persisted for >5 years in the two oldest boys treated
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