Access peer-reviewed clinical studies, whitepapers, and international medical datasets from the EDIN network.
HED - Hypohidrotic Ectodermal Dysplasia
Ophthalmology
Eye
EDA-NFκB pathway
ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss
Y Jamilloux, T Mathis, O Grunewald, H Dollfuss… – Journal of clinical …, 2021 – Springer
… Caucasian family, with prominent autoinflammation and ectodermal dysplasia. … were
suggestive of ectodermal dysplasia (Fig. 1). MRI showed vertebral erosions and bilateral sacroiliitis. …
Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia
N Asano, S Yasuno, R Hayashi… – The Journal of …, 2021 – Wiley Online Library
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by hypohidrosis,
hypodontia, and hypotrichosis. Autosomal forms of the disease are caused by mutations …
IM Ganske, T Irwin, O Langa… – The Cleft Palate …, 2021 – journals.sagepub.com
Objective: Ectodermal dysplasia (ED) comprises multiple syndromes that affect skin, hair, nails,
and teeth, and sometimes are associated with orofacial clefting. The purpose of this study …
Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature
AG Peña‐Romero, M Sáez‐de‐Ocariz… – Pediatric …, 2021 – Wiley Online Library
Introduction Hypohidrotic ectodermal dysplasia (HED) is a genetic condition typified by
alterations in skin structures including sweat glands, hair, nails, and teeth. Hair findings in HED …
Complex Rehabilitation for an Adolescent with Ectodermal Dysplasia—A 10‐Year Follow‐Up
X Sun, J Yang, X Ma, S Liu… – Journal of Prosthodontics, 2021 – Wiley Online Library
… Maxillofacial rehabilitation of patients with ectodermal dysplasia (ED) often presents clinical
… Ectodermal dysplasia (ED) is a congenital disease caused by a single abnormal gene or a …
Ectodermal dysplasia-syndactyly syndrome with toe-only minimal syndactyly due to a novel mutation in NECTIN4: A case report and literature review
R Rotunno, A Diociaiuti, ML Dentici, M Rinelli, M Callea… – Genes, 2021 – mdpi.com
Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly
of the toes and fingers and abnormalities of the hair and teeth, variably associated with …
Y Yavuz, MS Doğan… – Makara Journal of …, 2021 – scholarhub.ui.ac.id
… Background: Ectodermal dysplasia is a complex group of genetic … of ectodermal dysplasia
reviewing by the literature. … Conclusions: Ectodermal dysplasia is a heterogeneous group of …
Implant restoration of hypodontia resulting from ectodermal dysplasia: a case report
Q Zhu, Y Jiang, J Yu, R Wang – Journal of International …, 2021 – journals.sagepub.com
… The clinical features of ectodermal dysplasia include sparse … defects in patients with
ectodermal dysplasia with reasonable … patient with congenital ectodermal dysplasia, congenital …
Molecular basis of ectodermal dysplasia: a comprehensive review of the literature
S Dorgaleleh, K Naghipoor… – Egyptian Journal of …, 2021 – journals.lww.com
… Ectodermal dysplasia (ED) is a rare genetic disease with a characteristic by sparse hair, …
The most common and most severe form of ED is the type of hypohidrotic ectodermal dysplasia (…
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia
L Körber, H Schneider, N Fleischer… – Orphanet Journal of …, 2021 – Springer
… X‑linked anhidrotic (hypohidrotic) ectodermal dysplasia is … the severity of hypohidrotic
ectodermal dysplasia caused by EDA gene … ectodermal dysplasia. J Med Genet. 2011;48:426–32. …
D Landau Prat, WR Katowitz, A Strong… – Orphanet Journal of Rare …, 2021 – Springer
… Patients with different subtypes were included, with the hypohidrotic ED and ectrodactyly-ectodermal
dysplasia-clefting variants being most prevalent. Most common findings were: …
Subjective oral health-related quality of life and objective oral health in people with ectodermal dysplasia
N Niekamp, J Kleinheinz, DR Reissmann… – International Journal of …, 2021 – mdpi.com
Ectodermal dysplasia (ED) refers to a heterogeneous group of genetic diseases of the skin,
skin appendages, and teeth. People with ED experience a poorer oral health-related quality …
CHDED - Congenital Heart Defects and Ectodermal Dysplasia
DentalDermatology
BonesHairHeartSkinTeeth
EDA-NFκB pathway
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1
S Alter, AD Zimmer, M Park, J Gong… – Journal of Medical …, 2021 – jmg.bmj.com
Background We describe two unrelated patients who display similar clinical features
including telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. …
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
B Bowles, A Ferrer, CJ Nishimura… – American Journal of …, 2021 – Wiley Online Library
… been associated with ectodermal dysplasia and hearing loss. … a stronger association with
ectodermal dysplasia. To clarify … include tooth agenesis or ectodermal dysplasia, while three …
Two novel ectodysplasin a gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia
K Yu, Y Shen, CL Jiang, W Huang… – Molecular Genetics & …, 2021 – Wiley Online Library
… The authors thank all hypohidrotic ectodermal dysplasia participants and their family
members in this study. The authors also thank Professor. Huang (Shanghai Institute of Precision …
… variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia
G Sogkas, IR Adriawan, FC Ringshausen… – Clinical …, 2020 – Elsevier
… Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by
a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-…
A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia
X Wang, Z Zhang, S Yuan, J Ren, H Qu, G Zhang… – Medicine, 2020 – pmc.ncbi.nlm.nih.gov
… responsible for the disorder X-linked hypohidrotic ectodermal dysplasia (XLHED), the most
common form of ectodermal dysplasia. XLHED is characterized by impaired development of …
A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
Y Zhan, S Luo, Z Pi, G Zhang – Hereditas, 2020 – Springer
Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail
dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E …
Britain’s youngest implant patients?–A Case Series of implant treatment in children with ectodermal dysplasia
L Clarke, L Bowyer, J Noone, C Stevens, J Yates… – Oral …, 2020 – Wiley Online Library
… Ectodermal dysplasia is a hereditary disorder that is characterised by abnormalities in the …
overdentures for two paediatric patients with ectodermal dysplasia. We discuss the treatment …
Comprehensive management of ectodermal dysplasia with interceptive orthodontics in a young boy who was bullied at school
A Wimalarathna, W Weerasekara… – Case reports in …, 2020 – Wiley Online Library
… The management of hypohidrotic ectodermal dysplasia with oligodontia in Class-I …
Management of the child with ectodermal dysplasia with oligodontia was a real challenge. …
