KREMEN1 Variants Associated with Ectodermal Dysplasia Impair Complex Formation of KREMEN1 with DKK1 and LRP6 and Attenuate WNT3A Response
N Rosen, T Holling, I Junod, M Alawi, H Ossama… – Journal of Investigative …, 2025 – Elsevier
Ectodermal dysplasia is a genetically and clinically heterogeneous condition that is caused by developmental defects of hair, teeth, nails, and certain glands. Biallelic KREMEN1 …
Masticatory function in growing individuals with hypohidrotic ectodermal dysplasia: a longitudinal study
M Ding, Y Kang, M Qin, J Zhu – International Journal of …, 2025 – Wiley Online Library
Background Hypohidrotic ectodermal dysplasia (HED) is a hereditary disorder with agenesis
of ectodermal derivatives, causing oligodontia or anodontia. Dentures are needed to …
Mechanical parameters based on high-speed videoendoscopy of the vocal folds in patients with ectodermal dysplasia
F Pelka, M Ensthaler, O Wendler, S Kniesburges… – Journal of Voice, 2025 – Elsevier
Objective Patients suffering from ectodermal dysplasia (ED), which is an inherited disorder
in the development of the ectodermal structures, have a significantly reduced expression of …
Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights
S Thaweesapphithak, A Krasaesin, S Prommanee… – BMC Oral Health, 2025 – Springer
Background Ectodermal dysplasia (ED) is a group of inherited disorders that affect ectodermally
derived structures, including teeth, hair, sweat glands, and salivary glands. Variants in …
ECTD12 - Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
DentalDermatology
SkinTeeth
p63 pathway
Novel familial KDF1 mutation detected in members of a three-generation family with clinical manifestations of ectodermal dysplasia: A report of four cases
C Keramida, C Efstathiadou, E Siomou… – Biomedical …, 2025 – spandidos-publications.com
Ectodermal dysplasia (ED) syndromes are a heterogeneous group of disorders characterized
by defects in two or more ectodermal structures. At least one of the structures must involve …
Outcomes of dental implant treatment in 3–18 year old children with ectodermal dysplasia: a systematic review spanning three decades
S Zhu, R Chen, S Zhang, Z Wang, Z Xie – BMC Oral Health, 2025 – Springer
Background Alveolar hypoplasia in Ectodermal Dysplasia (ED) children poses unique
challenges for implant treatment compared to those with missing teeth from trauma or other …
Prosthetic and implant rehabilitation in hypohidrotic ectodermal dysplasia: A 13-year follow-up
E Anitua, L Piñas, MH Alkhraisat – The Journal of Prosthetic Dentistry, 2025 – Elsevier
… a male patient with hypohidrotic ectodermal dysplasia (HED), a … Ectodermal dysplasia (ED)
refers to a group of over 200 … variants, with hypohidrotic ectodermal dysplasia (HED) being …
A Ullah, UU Rehman, Y Zeb, R Ahmad… – Regenerative …, 2025 – Taylor & Francis
Clouston syndrome is a rare autosomal dominant form of hidrotic ectodermal dysplasia that
presents significant challenges due to its multisystemic manifestations and limited …
… wnt/β-catenin signaling pathway down regulated osteogenic differentiation of bone marrow-derived stem cells in an anhidrotic ectodermal dysplasia patient with EDA …
D Bao, Y Yang, X Tong, H Qin – Heliyon, 2024 – cell.com
… The normal group included people aged 20–30 years from the Department of
Implantology in Nanjing Stomatological Hospital, excluding ectodermal dysplasia. All the experiments …
A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia
Y Zhuang, R Zhang, M Li, Y Zou, S Jiang… – Clinical, Cosmetic …, 2024 – Taylor & Francis
… Ectodermal dysplasia (ED) is a series of clinically and genetically heterogeneous disorders,
… As the most common form of ED, approximately 95% Hypohidrotic ectodermal dysplasia (…
Application of digital virtual simulated design in the prosthodontic rehabilitation of a child with a novel EDA mutation in ectodermal dysplasia: A clinical report
C Yang, W Chen, J Gao, S Huang – The Journal of Prosthetic Dentistry, 2024 – Elsevier
… This clinical report presents a 7-year-old patient with ectodermal dysplasia and a newly
identified … Ectodermal dysplasia (ED) is a rare genetic disorder characterized by structural …
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia
Y Liu, J Sun, C Zhang, Y Wu, S Ma, X Li, X Wu, Q Gao – BMC Oral Health, 2024 – Springer
Background The aim of this study was to analyse the differences in the phenotypes of missing
teeth between a pair of brothers with hypohidrotic ectodermal dysplasia (HED) and to …
A Dev, K Malhi, R Mahajan – Indian dermatology online journal, 2024 – pmc.ncbi.nlm.nih.gov
… other forms of EDs like ectodermal dysplasia 5, hair nail type and ectodermal dysplasia 4,
pure hair nail type. Management mainly involves keratolytics and emollients for palmoplantar …
Hereditary ectodermal dysplasia in two identical siblings
AS Sarkar, K Rao, V Ajila – Acta Medica Bulgarica, 2024 – reference-global.com
… The most prevalent forms of ectodermal dysplasia are X-linked recessive hypohidrotic
ectodermal dysplasia and hidrotic ectodermal dysplasia [7]. Ectodermal dysplasia is a common …
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
D Brooks, E Burke, S Lee, TN Eble, M O’Leary… – Human genetics, 2024 – Springer
… We report five individuals with diverse clinical features, including craniosynostosis, limb
anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have …
Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR
L Graversen, M Sommerlund, C Kruse, H Gjørup… – European Journal of …, 2024 – Elsevier
… Hypohidrotic Ectodermal Dysplasia is a syndrome with … We present a patient with classic
Hypohidrotic Ectodermal Dysplasia … in EDAR as causal for Hypohidrotic Ectodermal Dysplasia. …
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of …
A Kablan, E Tasdelen – Italian Journal of Pediatrics, 2024 – Springer
… Ectodermal dysplasia is a genetically and phenotypically heterogeneous condition … with
ED-related findings, for hypohidrotic ectodermal dysplasia (HED) four main genes, namely EDA (…
Prevalence rates for ectodermal dysplasia syndromes
C Butcher, BM Abbott, D Grange, M Fete… – American Journal of …, 2024 – Wiley Online Library
… Conclusion: This study established estimated period prevalence rates for several of the
ectodermal dysplasia syndromes, and it demonstrated the feasibility of utilizing large multicenter …
CHDED - Congenital Heart Defects and Ectodermal Dysplasia
Heart
EDA-NFκB pathway
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature
F Leduc, T Smol, B Catteau, O Boute, F Petit – European Journal of Medical …, 2024 – Elsevier
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome is a
rare autosomal dominant condition, recently linked to the protein kinase D1 (PRKD1) gene. …
