Anhidrotic Ectodermal Dysplasia 1

An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.

Also Known As:

Ectodermal Dysplasia 1, Anhidrotic; Anhidrotic Ectodermal Dysplasia, X-Linked; Anhydrotic Ectodermal Dysplasia, X-Linked; CST Syndrome; Ectodermal Dysplasia 1; Ectodermal Dysplasia 1, Anhydrotic; Ectodermal Dysplasia, Anhidrotic, X-Linked; Ectodermal Dysplasia, Hypohidrotic, X-Linked; Ectodermal Dysplasia, Hypohydridic, X-Linked; Hypohidrotic Ectodermal Dysplasia; X-Linked Hypohydridic Ectodermal Dysplasia; Anhidrotic Ectodermal Dysplasia, X Linked; Anhydrotic Ectodermal Dysplasia, X Linked; CST Syndromes; Christ Siemens Touraine Syndrome; Dysplasia 1, Ectodermal; Ectodermal Dysplasia 1s; Syndrome, CST; Syndromes, CST; X Linked Hypohydridic Ectodermal Dysplasia; Christ-Siemens-Touraine Syndrome

Networked: 157 relevant articles (1 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Atopic Dermatitis (Atopic Eczema)
2.	Anodontia (Hypodontia)
3.	Hypohidrosis
4.	hypohidrotic Ectodermal dysplasia with immune deficiency
5.	Ectodermal Dysplasia (Aplasia Cutis Congenita)

Experts

1.	Schneider, Pascal: 12 articles (01/2022 - 11/2007)
2.	Schneider, Holm: 10 articles (01/2021 - 06/2011)
3.	Huttner, Kenneth: 6 articles (10/2020 - 06/2011)
4.	Cheeseman, Michael: 4 articles (01/2022 - 01/2016)
5.	Schuepbach-Mallepell, Sonia: 4 articles (01/2022 - 01/2018)
6.	Kowalczyk-Quintas, Christine: 4 articles (01/2021 - 04/2014)
7.	Zonana, J: 4 articles (12/2001 - 12/2000)
8.	Azar, Ali: 3 articles (01/2022 - 01/2016)
9.	Faschingbauer, Florian: 3 articles (10/2020 - 01/2018)
10.	Kirby, Neil: 3 articles (10/2020 - 01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Anhidrotic Ectodermal Dysplasia 1:

1.	EctodysplasinsIBA 12/02/2015 - "This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). " 11/01/2023 - "Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants." 06/01/2023 - "We identified a novel gross deletion in the Ectodysplasin A gene in a male patient with X-linked hypohidrotic ectodermal dysplasia. " 06/01/2023 - "A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia." 04/12/2023 - "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 hair, sweat glands, and teeth. "
2.	tofacitinibIBA 01/04/2021 - "Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib."
3.	TNF Receptor-Associated Factor 6 (TRAF6)IBA 03/01/2013 - "Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia." 06/01/2012 - "A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia."
4.	Biomarkers (Surrogate Marker)IBA 06/01/2011 - "In contrast to prior reports on non-genotyped hypohidrotic ectodermal dysplasia populations, this study confirmed a consistent, quantifiable defect of sweat gland function in male XLHED subjects as a disease biomarker. " 11/01/2007 - "To describe the somatic development and craniofacial morphology in males affected with hypohidrotic ectodermal dysplasia (HED) and female carriers and to find clinical markers for early clinical diagnosis of possible female carriers. "
5.	Genetic Markers (Genetic Marker)IBA 09/15/1993 - "Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. "
6.	Collodion (Nitrocellulose)IBA 05/01/2006 - "Although dry skin is a frequently reported sign in children with hypohidrotic ectodermal dysplasia, only one French study has reported a true collodion membrane at birth. " 05/01/2006 - "We suspect that scaling with features of collodion membrane is more common in infants than is reflected in the literature, and we describe another such infant, later diagnosed with hypohidrotic ectodermal dysplasia." 05/01/2006 - "A child with hypohidrotic ectodermal dysplasia with features of a collodion membrane."
7.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "The hypohidrotic ectodermal dysplasia (HED) has different etiologies, and it is more frequently associated with an X-linked pattern of inheritance caused by pathogenic variants of the EDA gene in Xq13.1. EDA encodes the protein ectodisplasin A, a signal molecule which participates in epithelium and mesenchymal development of the skin. " 09/01/2004 - "These results open up the possibility of obtaining large amounts of purified EDA proteins to investigate EDAR/XEDAR related signaling pathways and for the treatment of patients with X-linked hypohidrotic ectodermal dysplasia." 08/01/1996 - "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein." 02/01/2023 - "Given the recent developments in gene and protein-based therapies for X-linked hypohidrotic ectodermal dysplasia, there is a re-emerging interest in identifying the genetic basis of EDs and the respective phenotypic presentations, in an aim to facilitate potential treatments for affected families. " 01/01/2022 - "In X-linked hypohidrotic ectodermal dysplasia (XLHED), the genetic deficiency of the signaling molecule ectodysplasin A1 (EDA1) may even be overcome before birth by administration of a recombinant replacement protein. "
8.	Ectodysplasin ReceptorsIBA 08/09/2023 - "[A novel ectodysplasin-A receptor gene variant identified by whole-exome sequencing with hypohidrotic ectodermal dysplasia in a Chinese family]." 04/01/2012 - "A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India." 10/01/2009 - "In ectodysplasin A receptor (EDAR), where dysfunctional mutations cause hypohidrotic ectodermal dysplasia, there is a nonsynonymous-derived variant, 1540C (rs3827760), that has a geographic distribution similar to that of the tooth shoveling. " 06/01/2008 - "Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia." 11/01/2020 - "Mutations in the ectodysplasin A receptor (EDAR) gene are the primary cause of hypohidrotic ectodermal dysplasia but are rarely reported in nonsyndromic oligodontia. "
9.	Dental Implants (Dental Implant)IBA 09/01/2013 - "The purpose of this paper was to present a case report of implant placement in a 7-year-old girl with hypohidrotic ectodermal dysplasia and review the current literature to discuss the use of dental implants in such patients. " 03/01/1997 - "Dental implants in the oral rehabilitation of a teenager with hypohidrotic ectodermal dysplasia: report of a case." 05/01/2007 - "Full mouth rehabilitation of a hypohidrotic ectodermal dysplasia patient with dental implants: a clinical report." 07/01/2015 - "The aim was to report on oral rehabilitation of a boy with X-linked hypohidrotic ectodermal dysplasia (XLHED) and anodontia of the mandible between ages 3 and 33 years where treatment involved dental implants and oral care management by a multidisciplinary team of specialists. " 05/01/2005 - "Hypohidrotic ectodermal dysplasia with bilateral impacted teeth at the coronoid process: a case rehabilitated with mini dental implants."
10.	LigandsIBA 10/02/2009 - "Mutations in the TNF family ligand EDA1 cause X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized by defective development of skin appendages. " 12/20/2001 - "Mutations in Edar-or its ligand, Eda-cause hypohidrotic ectodermal dysplasia in humans and mice. " 01/01/2023 - "Loss-of-function sequence variants of EDA, which encodes the two major ligand isoforms, EDA-A1 and EDA-A2, result in X-linked hypohidrotic ectodermal dysplasia characterized by defects in two or more types of ectodermal appendages. " 01/01/2022 - "Mutation of genes encoding the ligand EDA, its transmembrane receptor EDAR and the intracellular signal transducer EDARADD leads to hypohidrotic ectodermal dysplasia, characterised by impaired development of teeth and hair, as well as cutaneous glands. " 01/01/2019 - "Patients with mutations in the ectodysplasin receptor signalling pathway genes - the X-linked ligand ectodysplasin-A (EDA), the receptor EDAR or the receptor adapter EDARADD - have hypohidrotic ectodermal dysplasia (HED). "

Therapies and Procedures

1.	Prostheses and Implants (Prosthesis) 10/01/2014 - "The aim of this study was to evaluate oral function rehabilitation in patients with hypohidrotic ectodermal dysplasia (HED) using implant-supported prostheses based on bone augmentation. " 10/01/2014 - "A retrospective 3- to 5-year study of the reconstruction of oral function using implant-supported prostheses in patients with hypohidrotic ectodermal dysplasia." 11/01/2016 - "Dental Findings and Functional Prosthesis use in Child with Hypohidrotic Ectodermal Dysplasia: A Case Report." 08/01/2014 - "Implant-supported fixed prosthesis in a hypohidrotic ectodermal dysplasia patient: a case report with 3 years follow-up and review of the literature." 01/01/2013 - "Complete and Removable Partial Prosthesis for a Child with Hypohidrotic Ectodermal Dysplasia. "
2.	Therapeutics 12/01/2014 - "Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia." 02/01/1971 - "Prosthetic therapy for a six-and-one-half-year old patient with Christ-Siemens-Touraine syndrome." 11/01/2004 - "Simultaneous functional and fixed appliance therapy for growth modification and dental alignment prior to prosthetic habilitation in hypohidrotic ectodermal dysplasia: a clinical report." 02/01/2023 - "Given the recent developments in gene and protein-based therapies for X-linked hypohidrotic ectodermal dysplasia, there is a re-emerging interest in identifying the genetic basis of EDs and the respective phenotypic presentations, in an aim to facilitate potential treatments for affected families. "
3.	Rehabilitation 01/01/2018 - "Oral Care Program for Successful Long-Term Full Mouth Habilitation of Patients with Hypohidrotic Ectodermal Dysplasia." 04/01/2006 - "The aim of this article is to review possible cranio-maxillofacial deformative consequences associated with hypohidrotic ectodermal dysplasia and embryonic malformations, which include dental ageneses, and describe the oral habilitation. " 09/01/2001 - "The aim of this article is to describe the oral habilitation, over a period of 20 years, of a young patient with hypohidrotic ectodermal dysplasia and agenesis of 15 permanent teeth. " 11/01/2004 - "This clinical report describes the simultaneous use of functional and fixed appliances to modify the pattern of dentofacial development and align teeth in preparation for prosthodontic habilitation of a growing child with hypohidrotic ectodermal dysplasia. " 11/01/2004 - "Simultaneous functional and fixed appliance therapy for growth modification and dental alignment prior to prosthetic habilitation in hypohidrotic ectodermal dysplasia: a clinical report."
4.	Overlay Denture 03/01/2011 - "Overdenture restoration in a growing patient with hypohidrotic ectodermal dysplasia: a clinical report." 10/01/1997 - "Overdenture prosthesis for oral rehabilitation of hypohidrotic ectodermal dysplasia: a case report." 03/01/1997 - "This report presents the case of a teenager affected by hypohidrotic ectodermal dysplasia and rehabilitated with a fixed maxillary partial prosthesis and mandibular overdenture supported by osseointegrated implants. "
5.	Complete Denture (Dentures, Complete) 12/01/2021 - "This case report presents the dimensional changes in dental arches in a patient with hypohidrotic ectodermal dysplasia (HED) after complete denture rehabilitation, with an 18-year follow-up period. " 12/01/2021 - "Dimensional Changes in Dental Arches after Complete Dentures Rehabilitation of a Patient with Hypohidrotic Ectodermal Dysplasia: A Case Report with 18-Year Follow-Up." 10/01/1995 - "Complete dentures for a child with hypohidrotic ectodermal dysplasia: a clinical report." 04/01/2013 - "We report a case of hypohidrotic ectodermal dysplasia in an 8-year-old boy who exhibited anodontia and was successfully rehabilitated with conventional complete dentures in both maxillary and mandibular arches. "