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Ectodermal Dysplasia
HairShort statureTeethThroat
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)
A Sezer, M Quinodoz, B Li, BR Korf… – American Journal of …, 2026 – Wiley Online Library
… decay, and sparse hair suggestive of ectodermal dysplasia as a component of the phenotype.
… dysplasia with tracheal stenosis and ectodermal dysplasia (SEMDTSED), MIMS1‐related.” …
Digital oral rehabilitation for children with hypohidrotic ectodermal dysplasia
Y Luo, J Zhang, H Yang – Journal of Dentistry, 2026 – Elsevier
Objective To evaluate the efficacy and clinical significance of digital technology in early oral
rehabilitation for children with ectodermal dysplasia. Methods Two pediatric cases of …
Early Oral Rehabilitation of a Pediatric Patient With Hypohidrotic Ectodermal Dysplasia: A Case Report from Afghanistan
N Ahmadzai, H Ehsan, F Sapai, MB Nejabi… – Clinical Case …, 2026 – Wiley Online Library
… This case report presents the oral rehabilitation of a 6 year old male child with hypohidrotic
ectodermal dysplasia in Kabul, Afghanistan. It emphasizes the importance of early diagnosis, …
Gain-of-function variants in IRF6 cause hidradenitis suppurativa, ectodermal dysplasia and deafness syndrome
Z Zhang, G Zhang, Y Lv, S Zhao, K Lv… – British Journal of …, 2026 – academic.oup.com
We report two gain-of-function IRF6 variants (p.Ile218_Ser220delinsSerSerGlyAla; p.Ile218Asn)
as the genetic basis of early-onset hidradenitis suppurativa, ectodermal dysplasia and …
HED-Derived iPSCs Reveal Neurofunctional Defects in Ectodermal Dysplasia
L Peng, X Song, Y Lin, X Tao, T Huan… – Journal of Dental …, 2026 – journals.sagepub.com
… Ectodermal dysplasia (ED) is characterized by sparse hair, reduced sweat gland secretion,
… Here, we report a pedigree with hypohidrotic ectodermal dysplasia (HED), the most common …
Implant-supported fixed prosthodontic treatment for ectodermal dysplasia: a case report
Y Wang, S Chen, Y Zhou – BMC Oral Health, 2026 – Springer
Background Ectodermal dysplasia (ED) often results in congenital tooth agenesis and
severe developmental alveolar ridge defects, leading to functional impairments, reduced …
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
VA Kovalskaia, TB Cherevatova, EV Zinina… – Orphanet Journal of …, 2026 – Springer
… While analyzing the pattern of X chromosome inactivation in female EDA-carriers and
female patients with EDA-associated ectodermal dysplasia, we detected no strong correlation …
Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study
M Montevecchi, MG Liguori, I Santini, NM Sforza… – Oral …, 2026 – Wiley Online Library
… The present study provides a descriptive analysis of gingival morphology and periodontal
characteristics in a group of young individuals diagnosed with Ectodermal dysplasia (ED). …
Techniques and outcomes in prosthetic rehabilitation for patients with ectodermal dysplasia: a systematic review
S Tomar, N Srivastava, V Rana, R Goswami… – European Archives of …, 2026 – Springer
… with ectodermal dysplasia, with treatment outcomes influenced by patient age, prosthetic
type, and clinical approach. Previous systematic reviews on ectodermal dysplasia have …
… tooth-supported complete overdenture and mandibular telescopic denture to manage the treatment of a patient with hypohidrotic ectodermal dysplasia
X Tao, Z Xu, Z Lin, Q Wu – The Journal of Prosthetic Dentistry, 2025 – Elsevier
… who had been diagnosed with hypohidrotic ectodermal dysplasia. A maxillary tooth-supported …
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the …
A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
L Yao, L Wan, Y Lin, Y Zhang, X Cai, J Ye, G He… – BMC Pregnancy and …, 2025 – Springer
… ectodermal dysplasia. Genetic diagnosis can confirm the disease, but the numerous gene
variants that cause ectodermal dysplasia … fetus possessed ectodermal dysplasia generated by …
A Novel Missense Mutation at EDA2R Gene Identified in a Case Study Associated with Hypohidrotic Ectodermal Dysplasia
W Yang, S Jin, J Jiang, WJ Ji, Q He – Regenerative Medicine and …, 2025 – researchgate.net
… Hypohidrotic Ectodermal Dysplasia (HED) is a rare genetic disorder which affects 1 in
5000–… Mutations in the EDA gene lead to X-linked hypohidrotic ectodermal dysplasia, the most …
A yet undescribed IRF6 variant causes a new type of ectodermal dysplasia with natal teeth.
N Peschel, I Willershausen, S Schliep… – Journal of the …, 2025 – openurl.ebsco.com
The article focuses on the identification of a new form of ectodermal dysplasia (ED) linked to
a variant in the Interferon Regulatory Factor 6 (IRF6) gene, termed Ectodermal Dysplasia …
Application of a Conservative Prosthodontic Approach in the Rehabilitation of a 10-Year-Old Child with Hypohidrotic Ectodermal Dysplasia
A Alazmah – Healthcare, 2025 – mdpi.com
… genetic disorders, of which hypohidrotic ectodermal dysplasia (HED) represents the most …
the management of pediatric patients with ectodermal dysplasia, as functional and esthetic …
Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus
H Schneider, M Schneider, M Lia, DK Grange… – Orphanet Journal of …, 2025 – Springer
Background X-linked hypohidrotic ectodermal dysplasia (XLHED) is a severe genetic
disorder that may be treatable with short-term protein replacement therapy during fetal …
CHDED - Congenital Heart Defects and Ectodermal Dysplasia
BrainHeart
EDA-NFκB pathway
Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED)
D Watanabe, Y Hasebe, H Yagasaki, D Nakato… – European Journal of …, 2025 – Elsevier
… with congenital heart defect without ectodermal dysplasia. In contrast, … ectodermal
dysplasia. The exception is patient 4, who had a loss-of-function allele but ectodermal dysplasia…
Complete‐arch implant rehabilitation and adjunctive orthognathic surgery of a patient with hypohidrotic ectodermal dysplasia utilizing a digital workflow: A clinical …
L Gonzaga, G Lawand, S Blumberg… – Journal of …, 2025 – Wiley Online Library
… ectodermal dysplasia, implant-supported fixed complete dental prosthesis, orthognathic surgery
Ectodermal dysplasia … Hypohidrotic ectodermal dysplasia (HED), the most common form, …
Dental implants as a treatment option for prosthetic rehabilitation of children with ectodermal dysplasia: A systematic review
KD Barve, DS Padawe… – International Journal of …, 2025 – pmc.ncbi.nlm.nih.gov
Aims and background Ectodermal dysplasia (ED) typically involves anomalies in two or more
ectodermal structures, including the skin, hair, nails, sweat glands, and teeth. Among these …
Dental Management of Ectodermal Dysplasia: A Report of Two Clinical Cases.
FE Elgasmi, M Rahmaoui, S Elarabi, B Badre – Cureus, 2025 – cureus.com
… Ectodermal dysplasia (ED) represents a group of hereditary disorders affecting ectoderm-…
This article presents two pediatric cases of hypohidrotic ectodermal dysplasia, each exhibiting …
Ectodermal dysplasia: a narrative review of the clinical and biological aspects relevant to oral health
AC Morandini, O Adeogun, M Black, E Holman… – Frontiers in …, 2025 – frontiersin.org
… in a patient with ectodermal dysplasia (1). In … ectodermal dysplasia varies. For example, the
most commonly occurring type of ectodermal dysplasia is hypohidrotic ectodermal dysplasia (…
