Research & Literature

Christ Siemens Touraine syndrome: Two case reports and felicitous approaches to prosthetic management.

Renahan N, Raj R, Varma RB, Kumar JS

Contemporary clinical dentistry 2015; (6(2)):274-6 doi:10.4103/0976-237X.156066.

Dental Implant Therapy for a Child with X-linked Hypohidrotic Ectodermal Dysplasia--Three Decades of Managed Care.

Bergendal B, Bjerklin K, Bergendal T, Koch G

The International journal of prosthodontics 2015; (28(4)):348-56 doi:10.11607/ijp.4242.

[Optimization of diagnostics and orthodontic treatment planning in children and adolescents with multiply adentia].

Gunenkova IV, Samoylova NV, Bondarets AY

Stomatologiia 2015; (94(3)):61-66 doi:10.17116/stomat201594361-66.

The categories of cutaneous mosaicism: A proposed classification.

Happle R

American journal of medical genetics. Part A 2016; (170A(2)):452-459 doi:10.1002/ajmg.a.37439.

Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.

Azar A, Piccinelli C, Brown H, et al.

Human molecular genetics 2016; (25(16)):3564-3577 doi:10.1093/hmg/ddw202.

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].

Callea M, Cammarata-Scalisi F, Willoughby CE, et al.

Archivos argentinos de pediatria 2017; (115(1)):e34-e38 doi:10.5546/aap.2017.e34.

Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.

Wahlbuhl-Becker M, Faschingbauer F, Beckmann MW, Schneider H

Geburtshilfe und Frauenheilkunde 2017; (77(4)):377-382 doi:10.1055/s-0043-100106.

Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report.

Quintanilha LELP, Carneiro-Campos LE, Antunes LAA, et al.

General dentistry 2017; (65(5)):72-76.

Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.

Arif T, Amin SS, Adil M, Mohtashim M

Acta dermatovenerologica Croatica : ADC 2017; (25(2)):161-163.

Hypohidrotic ectodermal dysplasia: clinical and molecular review.

Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, et al.

International journal of dermatology 2018; (57(8)):965-972 doi:10.1111/ijd.14048.

A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates.

Meshram GG, Kaur N, Hura KS

Journal of family medicine and primary care 2018; (7(1)):264-266 doi:10.4103/jfmpc.jfmpc_20_17.

Interceptive treatment in ectodermal dysplasia using an innovative orthodontic/prosthetic modular appliance. A case report with 10- year follow-up.

Celli D, Manente A, Grippaudo C, Cordaro M

European journal of paediatric dentistry 2018; (19(4)):307-312 doi:10.23804/ejpd.2018.19.04.11.

Oral Care Program for Successful Long-Term Full Mouth Habilitation of Patients with Hypohidrotic Ectodermal Dysplasia.

Hsieh YL, Razzoog M, Garcia Hammaker S

Case reports in dentistry 2018; (2018()):4736495 doi:10.1155/2018/4736495.

Oral Rehabilitation of a Child with Hypohidrotic Ectodermal Dysplasia.

Torres CP, Dos Reis AC, Queiroz AM, et al.

Journal of dentistry for children (Chicago, Ill.) 2019; (86(3)):158-163.

Hypohidrotic ectodermal dysplasia: a case report.

Chandravanshi SL

Orbit (Amsterdam, Netherlands) 2020; (39(4)):298-301 doi:10.1080/01676830.2019.1688358.

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

Martínez-Romero MC, Ballesta-Martínez MJ, López-González V, et al.

Orphanet journal of rare diseases 2019; (14(1)):281 doi:10.1186/s13023-019-1251-x.

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.

Körber I, Klein OD, Morhart P, et al.

British journal of clinical pharmacology 2020; (86(10)):2063-2069 doi:10.1111/bcp.14301.

Prosthodontic Management of a Pediatric Patient with Christ-Siemens-Touraine Syndrome: A Case Report.

Abdulla AM, Almaliki AY, Shakeela NV, et al.

International journal of clinical pediatric dentistry 2019; (12(6)):569-572 doi:10.5005/jp-journals-10005-1697.

X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.

Noriega-Juárez MA, García-Delgado C, Villaseñor-Domínguez A, et al.

Boletin medico del Hospital Infantil de Mexico 2020; (77(4)):212-217 doi:10.24875/BMHIM.19000209.

Facial Morphological Changes Following Denture Treatment in Children with Hypohidrotic Ectodermal Dysplasia.

Ding M, Fan Y, Qin M, et al.

Pediatric dentistry 2020; (42(4)):315-320.

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.

Andreoni F, Sgattoni C, Bencardino D, et al.

Molecular genetics & genomic medicine 2021; (9(1)):e1555 doi:10.1002/mgg3.1555.

Comprehensive Management of Ectodermal Dysplasia with Interceptive Orthodontics in a Young Boy Who Was Bullied at School.

Wimalarathna AAAK, Weerasekara WBMCRD, Herath EMUCK

Case reports in dentistry 2020; (2020()):6691235 doi:10.1155/2020/6691235.

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.

Körber L, Schneider H, Fleischer N, Maier-Wohlfart S

Orphanet journal of rare diseases 2021; (16(1)):98 doi:10.1186/s13023-021-01735-2.

First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

Tumminello M, Gangemi A, Matina F, et al.

Italian journal of pediatrics 2021; (47(1)):128 doi:10.1186/s13052-021-01078-5.

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.

Ahmed HA, El-Kamah GY, Rabie E, et al.

Genes 2021; (12(9)) doi:10.3390/genes12091389.

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.

Yu K, Shen Y, Jiang CL, et al.

Molecular genetics & genomic medicine 2021; (9(11)):e1824 doi:10.1002/mgg3.1824.

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report.

Alksere B, Kornejeva L, Grinfelde I, et al.

Molecular genetics and metabolism reports 2021; (29()):100796 doi:10.1016/j.ymgmr.2021.100796.

X-Chromosome Inactivation and Autosomal Random Monoallelic Expression as "Faux Amis".

Barreto VM, Kubasova N, Alves-Pereira CF, Gendrel AV

Frontiers in cell and developmental biology 2021; (9()):740937 doi:10.3389/fcell.2021.740937.

Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.

Chaudhary AK, Gholse A, Nagarajaram HA, et al.

American journal of medical genetics. Part A 2022; (188(3)):788-805 doi:10.1002/ajmg.a.62579.

Ectodysplasin A/Ectodysplasin A Receptor System and Their Roles in Multiple Diseases.

Cai Z, Deng X, Jia J, et al.

Frontiers in physiology 2021; (12()):788411 doi:10.3389/fphys.2021.788411.

Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care.

Chiang J, Chia TH, Yuen J, et al.

JCO precision oncology 2021; (5()):577-584 doi:10.1200/PO.20.00399.

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia.

Callea M, Bignotti S, Semeraro F, et al.

Children (Basel, Switzerland) 2022; (9(9)) doi:10.3390/children9091357.

Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders.

Schneider H

Frontiers in genetics 2022; (13()):1000744 doi:10.3389/fgene.2022.1000744.

Appearance Says It All; A Rare Case Of Hypohidrotic Ectodermal Dysplasia.

Kumar J, Ahmed A, Hussain T, et al.

Journal of Ayub Medical College, Abbottabad : JAMC 2022; (34(4)):895-897 doi:10.55519/JAMC-04-10890.

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.

Schneider H, Hadj-Rabia S, Faschingbauer F, et al.

Genes 2023; (14(1)) doi:10.3390/genes14010153.

Efficacy of cooling vests based on different heat-extraction concepts: The HEAT-SHIELD project.

Ciuha U, Valenčič T, Ioannou LG, Mekjavic IB

Journal of thermal biology 2023; (112()):103442 doi:10.1016/j.jtherbio.2022.103442.

Hypohidrotic ectodermal dysplasia: a case report.

Albeik MTMN, Abdullah L, Almatroud MM

Annals of medicine and surgery (2012) 2023; (85(3)):519-522 doi:10.1097/MS9.0000000000000240.

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

Callea M, Bellacchio E, Cammarata Scalisi F, et al.

Italian journal of dermatology and venereology 2023; (158(1)):32-38 doi:10.23736/S2784-8671.23.07540-0.

The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective.

Gao Y, Jiang X, Wei Z, et al.

Frontiers in genetics 2023; (14()):1168538 doi:10.3389/fgene.2023.1168538.

A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.

Schneider H, Schweikl C, Faschingbauer F, et al.

International journal of molecular sciences 2023; (24(8)) doi:10.3390/ijms24087155.

Unexplained Fever in Infancy: Report of a Rare Case of Hypohidrotic Ectodermal Dysplasia in an Infant.

Gilitwala ZS, Satpute SR

Cureus 2023; (15(5)):e39489 doi:10.7759/cureus.39489.

EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes.

Yao Y, Yang R, Zhu J, et al.

Cell & bioscience 2023; (13(1)):128 doi:10.1186/s13578-023-01082-8.

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED): A Case Report and Overview of the Diagnosis and Multidisciplinary Modality Treatments.

Aftab H, Escudero IA, Sahhar F

Cureus 2023; (15(6)):e40383 doi:10.7759/cureus.40383.

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.

Yapijakis C, Douka A, Gintoni I, et al.

Advances in experimental medicine and biology 2023; (1423()):181-186 doi:10.1007/978-3-031-31978-5_15.

Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation.

Murshidi R, Al-Lala H

Case reports in dermatological medicine 2023; (2023()):5577379 doi:10.1155/2023/5577379.

Hypohidrotic Ectodermal Dysplasia: A Case Report.

Shamim H, Hanif S

Cureus 2023; (15(10)):e46530 doi:10.7759/cureus.46530.

Hypohidrotic Ectodermal Dysplasia Milia Treatment With Fractional Carbon Dioxide Laser and Laser-Assisted Drug Delivery of Triamcinolone.

Mineroff J, Dowling JR, Golbari NM, et al.

Journal of drugs in dermatology : JDD 2023; (22(11)):1130-1132 doi:10.36849/JDD.7650.

Christ-Siemens-Touraine Syndrome: A Report of a Rare Pediatric Case.

Bouhmidi M, Boudarbala H, Elouali A, et al.

Cureus 2024; (16(5)):e60022 doi:10.7759/cureus.60022.

Improving the Quality of Life in Patients With Hypohidrotic Ectodermal Dysplasia: A Holistic Approach.

Reddy H, Chiwhane A, Kothari M, et al.

Cureus 2024; (16(5)):e59847 doi:10.7759/cureus.59847.

Connexin Hemichannel Inhibition and Human Genodermatoses.

Mammano F, Paller AS, White TW

The Journal of investigative dermatology 2025; (145(4)):790-799 doi:10.1016/j.jid.2024.08.003.

Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools.

Li F, Cai Q, Ji W, et al.

Molecular genetics and metabolism reports 2025; (43()):101208 doi:10.1016/j.ymgmr.2025.101208.

Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.

Schneider H, Schneider M, Lia M, et al.

Orphanet journal of rare diseases 2025; (20(1)):182 doi:10.1186/s13023-025-03710-7.

Complete-arch implant rehabilitation and adjunctive orthognathic surgery of a patient with hypohidrotic ectodermal dysplasia utilizing a digital workflow: A clinical report.

Gonzaga L, Lawand G, Blumberg S, et al.

Journal of prosthodontics : official journal of the American College of Prosthodontists 2025; doi:10.1111/jopr.14060.

Nasal Myiasis in a Female with Christ-Siemens-Touraine Syndrome: A Case Report.

Maharjan L, Shah A, Yadav D, Shrestha N

JNMA; journal of the Nepal Medical Association 2024; (62(280)):837-840 doi:10.31729/jnma.8848.

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Esener Z, Yücesoy MA, Gezdirici A, et al.

Clinical genetics 2026; (109(1)):122-129 doi:10.1111/cge.70030.

Prenatal Ultrasound Findings of X-Linked Hypohidrotic Ectodermal Dysplasia: A Case Report.

She L, Yang M, Wu H, et al.

Journal of clinical ultrasound : JCU 2026; (54(1)):229-233 doi:10.1002/jcu.70033.

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

Doğan Arı AB, Türkyılmaz A, Kolkıran A, et al.

European journal of pediatrics 2025; (184(11)):667 doi:10.1007/s00431-025-06497-8.

Novel cooling vest with personal protective equipment alleviates heat strain without increasing metabolic demands in the heat.

Sainiyom P, Saengsirisuwan V, Leow CHW, et al.

Scandinavian journal of work, environment & health 2026; (52(1)):19-30.