Research Library

Access peer-reviewed clinical studies, whitepapers, and international medical datasets from the EDIN network. 

ED Type All ED Types
EEC - Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome
DentalDermatologyOral & Maxillofacial
Cleft Lip & PalateHairNailsSweat Glands / ThermoregulationTeeth
p63 pathway

Prosthetic rehabilitation of a patient with ectrodactyly‐ectodermal dysplasia‐cleft lip/palate syndrome through a hybrid workflow: A case report with 2‐year follow‐up

G Török, J Saláta, E Ábrám, B Nemes… – Special Care in …, 2024 – Wiley Online Library
… A 19-year follow-up of a patient with type 3 ectrodactylyectodermal dysplasia-clefting … Complex rehabilitation for an adolescent with ectodermal dysplasia-A 10-year follow-up. J …
XLHED - Hypohidrotic Ectodermal Dysplasia, X-Linked
Genetics
In vitro analyses
EDA-NFκB pathway

… 2 EDELIFE trial investigating the efficacy and safety of intra-amniotic ER004 administration to male subjects with X-linked hypohidrotic ectodermal dysplasia

H Schneider, S Hadj-Rabia, F Faschingbauer… – Genes, 2023 – mdpi.com
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, …
XLHED - Hypohidrotic Ectodermal Dysplasia, X-Linked
Dermatology
Sweat Glands / Thermoregulation
EDA-NFκB pathway

A causal treatment for X-linked hypohidrotic ectodermal dysplasia: long-term results of short-term perinatal ectodysplasin A1 replacement

H Schneider, C Schweikl, F Faschingbauer… – International journal of …, 2023 – mdpi.com
X-linked hypohidrotic ectodermal dysplasia (XLHED), caused by a genetic deficiency of ectodysplasin A1 (EDA1), is a rare developmental disorder of ectodermal derivatives such as …
HED - Hypohidrotic Ectodermal Dysplasia
Genetics
EDA-NFκB pathway

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor‐binding capability

X Liu, Y Zhao, J Zhu – Molecular Genetics & Genomic Medicine, 2023 – Wiley Online Library
Background Hypohidrotic ectodermal dysplasia (HED) mainly results from gene mutations in the EDA/EDAR/NF‐κB pathway. Function analysis of the mutations in the collagen domain …
TSPEAR-Related Ectodermal Dysplasia
DentalGenetics
Teeth
Others

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

A Jackson, SJ Lin, EA Jones, KE Chandler… – Human Genetics and …, 2023 – cell.com
TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying …
Ectodermal Dysplasia
DentalDermatology
HairNailsSkinSweat Glands / ThermoregulationTeeth
EDA-NFκB pathway

Ectodermal dysplasia with classical clinical presentation: A rare case report

N Mohan, PK Rathore – IP Journal of Diagnostic Pathology …, 2023 – researchersprofile.com
… Conclusion: Ectodermal dysplasia is a heterogeneous group of hereditary malformations and irregularities which have similar findings. Ectodermal dysplasia not only creates tissue …
EEC - Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome
Oral & Maxillofacial
Cleft Lip & Palate
p63 pathway

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome

K Bartalis, B Kálmán, M Kisely – Orvosi Hetilap, 2023 – europepmc.org
… The ectrodactyly-ectodermal dysplasia-clefting syndrome is an extremely rare genetic … It is characterized by the triad of ectrodactyly (absence of fingers), ectodermal dysplasia and cleft …
Ectodermal Dysplasia
Dental
Teeth
EDA-NFκB pathway

Fixed prosthodontic rehabilitation for an adult with ectodermal dysplasia using a completely digital workflow

N Sinada, CI Wang – The Journal of Prosthetic Dentistry, 2023 – Elsevier
… This clinical report describes the fixed prosthodontic treatment of an adult patient with ectodermal dysplasia by using a completely digital workflow, from the initial consultation …
HED - Hypohidrotic Ectodermal Dysplasia
Genetics
EDA-NFκB pathway

Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α

A Ziegler, F Ebstein, H Shamseldin… – British Journal of …, 2023 – academic.oup.com
… )1 has been shown to cause ectodermal dysplasia with or without … with hidradenitis suppurativa and ectodermal dysplasia. We … Ectodermal dysplasia may be present in a subset of …
HED - Hypohidrotic Ectodermal Dysplasia
DentalDermatology
Finger clubbingHairNailsSkinSweat Glands / ThermoregulationTeeth
EDA-NFκB pathway

Hypohidrotic ectodermal dysplasia: a case report

H Shamim, S Hanif – Cureus, 2023 – cureus.com
… ectodermal dysplasia and hidrotic ectodermal dysplasia. We report this case of classical hypohidrotic ectodermal dysplasia … manifestations, and management of ectodermal dysplasia. A …
HED - Hypohidrotic Ectodermal Dysplasia
DentalDermatology
HairNailsSkinSweat Glands / ThermoregulationTeeth
EDA-NFκB pathway

Hypohidrotic ectodermal dysplasia: a case report

MTMN Albeik, L Abdullah… – Annals of Medicine and …, 2023 – pmc.ncbi.nlm.nih.gov
Introduction and importance: Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder affecting at least 1 in 5000–10,000 newborns. This disorder …
HED - Hypohidrotic Ectodermal DysplasiaXLHED - Hypohidrotic Ectodermal Dysplasia, X-Linked
DentalDermatology
HairNailsSkinSweat Glands / ThermoregulationTeeth
EDA-NFκB pathway

Hypohidrotic ectodermal dysplasia: A rare entity

H Srivastava, CK Singh, SMR Qureshi… – Journal of Oral and …, 2023 – pmc.ncbi.nlm.nih.gov
… Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex … person to person depending on the type of ectodermal dysplasia (ED). The patterns include X‑…
CHDED - Congenital Heart Defects and Ectodermal Dysplasia
Heart
EDA-NFκB pathway

Increased intracranial pressure in a patient with congenital heart defect and ectodermal dysplasia (CHDED): extension of phenotype and review of literature

FA Alghaith, HH Arts, FJ Plourde… – American Journal of …, 2023 – Wiley Online Library
… Although CHD is often multifactorial, it can also be inherited as part of a Mendelian disorder such as in congenital heart defect and ectodermal dysplasia (CHDED). This disorder is …
Ectodermal Dysplasia
ENT
Throat & Mouth (Saliva)
EDA-NFκB pathway

Influence of reduced saliva production on phonation in patients with ectodermal dysplasia

M Semmler, S Kniesburges, F Pelka, M Ensthaler… – Journal of Voice, 2023 – Elsevier
Objective Patients with ectodermal dysplasia (ED) suffer from an inherited disorder in the development of the ectodermal structures. Besides the main symptoms, ie significantly reduced …
AEC - Ankyloblepharon-Ectodermal Defects-Cleft Lip/PalateEEC - Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome
Ophthalmology
Eye
p63 pathway

Ocular manifestations in patients affected by p63-associated disorders: ectrodactyly-ectodermal dysplasia-clefting (EEC) and ankyloblepharon-ectodermal …

E Di Iorio, F Bonelli, R Bievel-Radulescu… – Journal of Clinical …, 2023 – mdpi.com
… Patients are characterized by abnormalities of the skin, teeth, and hair and have limb defects, orofacial clefting and ectodermal dysplasia. In addition, they often show ocular surface …
Ectodermal Dysplasia
Dental
Teeth
EDA-NFκB pathway

Prosthodontic management of a patient with ectodermal dysplasia: Case report

MB Nejabi, A Anwari, H Shadab… – Clinical, Cosmetic …, 2023 – Taylor & Francis
… Ectodermal dysplasia can be devastating, both physically … of life for patients with ectodermal dysplasia.The most effective … -old boy with hypohidrotic ectodermal dysplasia and complete …
HED - Hypohidrotic Ectodermal Dysplasia
Dental
Teeth
EDA-NFκB pathway

Rehabilitation with implant‐supported overdentures in preteens patients with ectodermal dysplasia: A cohort study

M Montanari, F Grande, L Lepidi… – … Implant Dentistry and …, 2023 – Wiley Online Library
… Ectodermal dysplasia syndrome is a rare group of inherited … Clinically, ectodermal dysplasia is classified into two broad … Hypohidrotic ectodermal dysplasia (HED) X-linked is an …
HED - Hypohidrotic Ectodermal Dysplasia
DentalDermatology
HairNailsSkinSweat Glands / ThermoregulationTeeth
EDA-NFκB pathway

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants

K Yu, C Huang, F Wan, C Jiang, J Chen, X Li… – Nature …, 2023 – nature.com
… of mutations accounting for severe phenotypes of ectodermal dysplasia syndromes (Fig. 8 and … -receptor interface also leads to ectodermal dysplasia manifestations, indicating that the …
HED - Hypohidrotic Ectodermal Dysplasia
DentalDermatology
HairNailsSkinSweat Glands / ThermoregulationTeeth
EDA-NFκB pathway

X-linked hypohidrotic ectodermal dysplasia (XLHED): a case report and overview of the diagnosis and multidisciplinary modality treatments

H Aftab, IA Escudero, F Sahhar – Cureus, 2023 – cureus.com
… ectodermal dysplasia (XLHED), also known as Christ-Siemens-Touraine syndrome, is the most common form and is a variant of ectodermal dysplasia … type of ectodermal dysplasia, also …
Ectodermal Dysplasia
Dental
Teeth
EDA-NFκB pathway

… the density of mineralized dental tissues (dentin and enamel) be measured and compared with 3D cone beam computed tomography in cases of ectodermal dysplasia …

Y Yavuz, E Akleyin, MS Doğan… – … Medical Journal of …, 2022 – pmc.ncbi.nlm.nih.gov
… CBCT images of 14 ectodermal dysplasia and 14 control group cases were used. Since the age group of our ectodermal dysplasia cases who applied to our clinics ranged from 4-23, …