Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Open accessAbstract
We propose a working definition and classification system for ectodermal dysplasias integrating phenotype, genotype, and molecular pathway.
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Claims the paper makes
2 of 35 cited sources checked · 1 supported · 0 flagged · accuracy not yet measured
- Premisecitation
Many genes involved in ectodermal dysplasias act in shared molecular pathways important for ectodermal derivative development, including NFkB, WNT, and TP63.
“Further, it is now clear that many of the genes affected in EDs function in common molecular pathways that are known to be of importance in development of the ectodermal derivatives (e.g. NFkB “nuclear factor kappa-B”, WNT, TP63 pathways).[Cluzeau and others 2011; Kantaputra and Carlson 2018; Koster 2010]”
Quote in the paperSubstantial claim1 of 3 sources checked- cites Cluzeau and others 2011
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Kantaputra and Carlson 2018
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Koster 2010 source
The section on developmental disorders caused by alterations in the p63 pathway says that mutations in p63 and its target genes can produce related developmental disorders, supporting the TP63 portion of the claim. The passages from our copy do not establish the broader claim about NFkB and WNT pathways; searches for those pathways did not find supporting discussion. No page numbers are supplied in our copy. (LLM, conf=0.87)
Experimental — accuracy not yet measured
- Premisecitation
Previous ectodermal dysplasia classification systems have grouped conditions by underlying functional defect, such as abnormal developmental regulation or structural protein.
“Classification systems for ED have been proposed that categorize the conditions within groups based on the underlying functional defect such as abnormal developmental regulation or structural protein.[Priolo and Lagana 2001]”
Quote in the paperNot a substantial claim1 of 1 sources checked- cites Priolo and Lagana 2001 source
- Findingreasoning
Knowledge of developmental pathways and molecular structures, and of relationships among gene products, indicates that many ectodermal dysplasias arise from genes that jointly participate in critical developmental processes and structural assemblies of ectodermal derivatives.
“Knowledge of developmental pathways and molecular structures, and the relationship of different gene products within these domains, show that many EDs result from genes that co-participate in critical developmental processes and structural assemblages of the ectodermal derivatives (Figures 1, 2, 3).”
Quote in the paperSubstantial claim - Premisecitation
A widely recognized nosology from the 1970s, created by Dr. Newton Freire-Maia, covered conditions with classical signs in hair, teeth, nails, and/or sweat glands.
“The most widely known such nosology was developed by Dr. Newton Freire-Maia in the 1970s and included conditions with “classical signs” involving hair, teeth, nails, and/or sweat glands.”
Quote in the paperNot a substantial claim0 of 3 sources checked- cites Freire-Maia 1971 source
- cites Freire-Maia 1977
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Freire-Maia and Pinheiro 1984
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisecitation
Early classification schemes for these conditions were made before molecular genetics and grouped them by observable traits and inheritance pattern.
“Initial classification systems for the EDs predate molecular genetics and were categorized and grouped according to phenotypic features and mode of inheritance.”
Quote in the paperNot a substantial claim0 of 2 sources checked- cites Freire-Maia 1971 source
- cites Freire-Maia 1977
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisecitation
Conditions once thought unrelated can arise from allelic mutations that produce markedly different clinical phenotypes, such as TP63-associated syndromes.
“Conditions previously thought to be unrelated can result from allelic mutations that lead to markedly different clinical phenotypes (e.g. TP63-associated syndromes).[Rostagno and others 2010; Wisniewski and Trzeciak 2012]”
Quote in the paperSubstantial claim0 of 2 sources checked- cites Rostagno and others 2010
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Wisniewski and Trzeciak 2012 source
- Premisecitation
The earliest genetic change found to cause ectodermal dysplasia was a loss-of-function variant in EDA.
“The first genetic alteration identified as causative for ED was a loss-of-function variant of the gene EDA.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Kere and others 1996
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisereasoning
Not every pathogenic mutation in a given gene necessarily causes an ectodermal dysplasia.
“It is further noted that not all pathogenic mutations in a given gene may cause an ectodermal dysplasia.”
Quote in the paperSubstantial claim - Premisecitation
EDA and WNT10A variants can cause missing teeth without other ectodermal dysplasia features.
“Examples of this include EDA and WNT10A “wingless-type 10A” variants that result in missing teeth but no other phenotypic features of ED.[van den Boogaard and others 2012; Yang and others 2013]”
Quote in the paperSubstantial claim0 of 2 sources checked- cites van den Boogaard and others 2012
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Yang and others 2013
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisecitation
Therapeutic management of XLHED is now possible through intra-amniotic delivery of a fusion protein that replaces the function of the abnormal EDA protein.
“With the therapeutic management of XLHED now a reality, through the intra-amniotic delivery of a fusion protein that substitutes for the function of the abnormal EDA protein, the need to establish the correct diagnosis of the EDs has never been greater.[Schneider and others 2018]”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Schneider and others 2018
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisecitation
Later, similar hypohidrotic ectodermal dysplasia phenotypes were linked to defects in EDAR and the adaptor proteins EDARADD and TRAF6.
“Following this discovery, the causes of other hypohidrotic ED conditions with similar phenotypes were discovered in defects of the EDA receptor (EDAR) and the adaptor proteins EDARADD “EDAR-associated death domain” [Headon and others 2001] and TRAF6 “TNF receptor-associated factor 6”. [Wisniewski and Trzeciak 2012] [Chassaing and others 2006]”
Quote in the paperNot a substantial claim0 of 3 sources checked- cites Headon and others 2001
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Wisniewski and Trzeciak 2012 source
- cites Chassaing and others 2006
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisecitation
The proposed nosology for inherited ichthyosis remains clinically based.
“Other classification systems, such as the nosology proposed for inherited ichthyosis, remain clinically based.[Oji and others 2010]”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Oji and others 2010
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisecitation
The International Skeletal Dysplasia Society Nosology Group clusters conditions by molecular basis and phenotype.
“The Nosology Group of the International Skeletal Dysplasia Society clusters conditions based on their molecular basis as well as using phenotype clustering.[Bonafe and others 2015]”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Bonafe and others 2015
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisereasoning
Because ectodermal dysplasia prevalence is still poorly characterized, ordering or reporting by population frequency is difficult.
“As ED prevalence remains poorly characterized, meaningful ordering or reporting based on frequency of occurrence in the population is difficult.”
Quote in the paperSubstantial claim - Premisecitation
Inherited epidermolysis bullosa conditions are grouped by histological level of tissue separation, clinical phenotype, involved gene, and, when possible, specific genetic alteration.
“For example, the inherited epidermolysis bullosa conditions are clustered based on the histological level of tissue separation, the clinical phenotype, the gene involved and, when possible, the specific genetic alteration.[Fine and others 2014]”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Fine and others 2014
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- May combine two claims. 9
- Classified as probably not a substantial claim. 6
May combine two claims.
PremisecitationEctodermal dysplasias are regarded as rare, yet published prevalence estimates conflict.
“While the ectodermal dysplasias are considered rare conditions, there are contradictory reports on their prevalence.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Nguyen-Nielsen and others 2013
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
May combine two claims.
Premisenone givenConditions historically labeled as ectodermal dysplasias differ in their genetic origins and clinical presentations.
“Hereditary conditions historically classified as an ectodermal dysplasia (ED) are heterogeneous in their genetic causes and clinical phenotypes.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
PremisecitationThat classification split disorders into Group A, requiring at least two of those tissues to be affected, and Group B, requiring one of them plus another ectodermal tissue such as mammary gland.
“The disorders were subdivided into Group A – those having at least two of these tissues affected – and Group B – conditions affecting one of the aforementioned tissues and at least one other tissue of ectodermal origin (e.g. mammary gland).”
Quote in the paperNot a substantial claim0 of 2 sources checked- cites Freire-Maia and Pinheiro 1984
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Nguyen-Nielsen and others 2013
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
May combine two claims.
PremisecitationThe same study identified 1224 possible HED cases from 1995 to 2010: 90 molecularly confirmed, 146 clinically diagnosed, and 988 possible.
“The authors reported a possible 1224 HED cases between 1995 and 2010 with 90 of these confirmed at the molecular level, 146 clinically diagnosed, and 988 possible HED cases.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Nguyen-Nielsen and others 2013
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
Premisenone givenThe molecular origins of these varied conditions involve numerous genes, multiple developmental pathways, and components of complex molecular structures needed for normal ectodermal derivative formation, structure, and function.
“The molecular causes of these diverse conditions involve many genes and multiple developmental pathways and components of complex molecular structures that are necessary for normal formation, structure, and function of the ectodermal derivatives.”
Quote in the paperNot a substantial claimMay combine two claims.
PremisecitationAlterations in any of these genes can produce a phenotype resembling XLHED, and heterozygosity, compound heterozygosity, or homozygosity can cause the disorders.
“Pathogenic alterations in any of these genes can result in a clinical phenotype similar to XLHED, and both heterozygosity and compound heterozygosity or homozygosity for these can cause the disorders.”
Quote in the paperNot a substantial claim0 of 3 sources checked- cites Headon and others 2001
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Wisniewski and Trzeciak 2012 source
- cites Chassaing and others 2006
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationMolecularly confirmed XLHED prevalence in that study was 1.6 per 100,000.
“The prevalence of molecularly confirmed XLHED was 1.6:100,000.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Nguyen-Nielsen and others 2013
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationThe international ichthyosis workgroup acknowledged that a pathophysiologic classification of inherited ichthyoses should be developed as more information becomes available.
“The international ichthyosis workgroup recognized, however, that a pathophysiologic classification of inherited ichthyoses should be developed as additional information becomes available.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Oji and others 2010
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
Premisenone givenGJB2 mutations can cause isolated deafness, palmoplantar keratoderma, and ichthyosis, as well as KID syndrome.
“For example, mutations in GJB2 “gap junction protein beta-2”, a gene coding for connexin, can give rise to isolated deafness, palmoplantar keratoderma, and ichthyosis, as well as K-I-D syndrome (kearatitis-icthyosis-deafness syndrome).”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationA Danish nationwide cross-sectional study using national registries and clinical departments indicated that X-linked hypohidrotic ectodermal dysplasia might be more frequent than earlier believed.
“A nationwide cross-sectional study in Denmark that leveraged data from national registries and clinical departments suggests that X-linked hypohidrotic ED (XLHED; MIM #305100) may be more common than previously thought.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Nguyen-Nielsen and others 2013
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
May combine two claims.
PremisecitationThe genetic basis is known for nearly half of conditions historically classified as ectodermal dysplasias, and the causative alterations are known for most of the more common ED conditions.
“The genetic basis for nearly 50% of conditions historically classified as EDs and the causative genetic alterations underlying most of the more prevalent ED conditions are known.[Pagnan and Visinoni 2014; Wright and others 2009]”
Quote in the paperNot a substantial claim0 of 2 sources checked- cites Pagnan and Visinoni 2014 source
- cites Wright and others 2009
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
May combine two claims.
PremisecitationSome genes can have alterations linked to syndromes, while in other cases they are linked to changes in just one ectodermal tissue.
“Numerous genes may have alterations that are associated with syndromes while in other instances they are associated with changes in only one ectodermal tissue.”
Quote in the paperSubstantial claim0 of 2 sources checked- cites van den Boogaard and others 2012
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Yang and others 2013
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
The paper relies on this without support.
Every ectodermal dysplasia condition is a genetically determined developmental defect of tissues of ectodermal origin.
“A unifying feature is that all of the ED conditions are genetically determined developmental defects of tissues of ectodermal origin.”
The paper relies on this without support.
In some ectodermal dysplasias, epithelial-mesenchymal interaction disturbances affect endodermal as well as ectodermal structures, such as mucous gland formation defects in the lung and colon in XLHED.
“It should be noted that in some ectodermal dysplasias there are disturbances of epithelial-mesenchymal interaction affecting endodermal as well as ectodermal structures, such as the defects of mucous gland formation in the lung and the colon in XLHED.”
The paper relies on this without support.
Other genes and variants associated with ectodermal dysplasias encode proteins important for cell structure and/or function.
“Other genes and their genetic variants associated with EDs code for proteins important for the structure and/or function of cells.”
The paper relies on this without support.
XLHED is the most prevalent form of HED.
“In the case of EDA, this also happens to coincide with XLHED being the most prevalent form of HED.”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Ectodermal dysplasias are currently divided into four groups based on the pathway involved: ectodysplasin/NFKB, WNT10, TP63, and structural.
“They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group.”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [1]
In “Classification Scheme and Clustering” (page unavailable), the paper groups ectodermal dysplasias by genotype, molecular pathway and phenotype, identifying EDA-, WNT- and TP63-associated genes alongside genes involved in cellular structure. It does not state that the disorders are divided into exactly four groups, and it names the broader WNT pathway rather than a WNT10 group. (LLM, conf=0.85)
Experimental — accuracy not yet measuredOnly syndromes included in the most recent ED classification [3] were listed in Table 2.
“Only syndromes included in the most recent ED classification [3] were listed.”
From Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update (2022) · cites this paper as [3]
Ectodermal dysplasias are a heterogeneous group of inherited disorders characterized by abnormal development or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and sweat glands.
“Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands.”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [1]
The child's capacity to manage and adapt to dental treatment is a key factor influencing the choice and timing of restorative interventions, particularly in cases requiring complex or extended care.
“Moreover, the child’s capacity to manage and adapt to dental treatment is a key factor influencing the choice and timing of restorative interventions, particularly in cases requiring complex or extended care [8].”
From Application of a Conservative Prosthodontic Approach in the Rehabilitation of a 10-Year-Old Child with Hypohidrotic Ectodermal Dysplasia (2025) · cites this paper as [8]
The Abstract and Introduction discuss the classification and diagnosis of ectodermal dysplasias, including conditions affecting teeth. Searches for a child’s ability to manage dental treatment and for cooperation during complex restorative care found no passage addressing how that ability affects the choice or timing of interventions. No page numbers were provided in our copy. (LLM, conf=0.76)
Experimental — accuracy not yet measuredAdditional features of XLHED include dry, wrinkled skin, frontal bossing, saddle nose, and periorbital hyperpigmentation.
“Additional features include dry, wrinkled skin, frontal bossing, saddle nose, and periorbital hyperpigmentation [4].”
From X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype (2026) · cites this paper as [4]
The Introduction discusses XLHED and the classification of ectodermal dysplasias, but the passages in our copy do not describe the claimed skin or facial features. Searches for the listed features, including frontal bossing and periorbital pigmentation, found no passage that verifies them. (LLM, conf=0.72)
Experimental — accuracy not yet measured
XLHED carries susceptibility to life-threatening hyperthermia due to impaired thermoregulation.
“There is also a susceptibility to life‐threatening hyperthermia due to impaired thermoregulation [4, 5].”
From X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype (2026) · cites this paper as [4]
The Introduction identifies XLHED as a hypohidrotic ectodermal dysplasia and discusses sweat glands among the tissues affected by ectodermal dysplasias. However, our copy does not address impaired thermoregulation or susceptibility to life-threatening hyperthermia; searches for those terms and for sweating and heat intolerance found no decisive passage. (LLM, conf=0.73)
Experimental — accuracy not yet measured
Cites
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BackgroundOji, V., Tadini, G., Akiyama, M., Blanchet‐Bardon, C., Bodemer, C., Bourrat, E., Coudiere, P., DiGiovanna, J. J., Elias, P. M., Fischer, J., et al. (2010) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2009.11.020 · Cited by 781 · cited 1× · see citing works
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“The first genetic alteration identified as causative for ED was a loss-of-function variant of the gene EDA (Kere et al., 1996).”
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MethodGene defect in ectodermal dysplasia implicates a death domain adapter in development
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“…with similar phenotypes were discovered in defects of the EDA receptor (EDAR) and the adaptor proteins EDARADD “EDAR-associated death domain” (Headon et al., 2001) and TRAF6 “TNF receptor-associated factor 6” (Chassaing, Bourthoumieu, Cossee, Calvas, & Vincent, 2006; Wisniewski & Trzeciak,…”
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“Examples of this include EDA and WNT10A “wingless-type 10A” variants that result in missing teeth but no other phenotypic features of ED (van den Boogaard et al., 2012; Yang et al., 2013).”
BackgroundEctodermal dysplasias: a new clinical-genetic classification
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“A nationwide cross-sectional study in Denmark that leveraged data from national registries and clinical departments suggests that X-linked hypohidrotic ED (XLHED; MIM #305100) may be more common than previously thought (Nguyen-Nielsen et al., 2013).”
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“Developing a classification system that incorporates the molecular etiology and the molecular pathway will help clinicians about the diagnosis of the diverse ED conditions at both the clinical and genetics levels (Itin, 2014).”
BackgroundSignaling pathways regulating ectodermal cell fate choices
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“The genetic basis for nearly 50% of conditions historically classified as EDs and the causative genetic alterations underlying most of the more prevalent ED conditions are known (Pagnan & Visinoni, 2014; Wright et al., 2009).”
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BackgroundSelf-citationNovel EDA p.Ile260Ser Mutation Linked to Non-syndromic Hypodontia
Yang, Y., Luo, L., Xu, J., et al. (2013) · Journal of Dental Research · doi:10.1177/0022034513487557 · Cited by 21 · cited 1× · see citing works
“Examples of this include EDA and WNT10A “wingless-type 10A” variants that result in missing teeth but no other phenotypic features of ED (van den Boogaard et al., 2012; Yang et al., 2013).”
BackgroundRapp–Hodgkin syndrome and SHFM1 patients: Delineating the p63–Dlx5/Dlx6 pathway
Vera‐Carbonell, A., Moya‐Quiles, M. R., Ballesta‐Martínez, M. J., López‐González, V., Bafallíu, J. A., Guillén‐Navarro, E., & López, I. (2012) · Gene · doi:10.1016/j.gene.2012.01.088 · Cited by 18 · cited 2× · see citing works
“, TP63 pathway-associated phenotypes include features such as cleft lip/palate and hand/foot malformations) (Koster, 2010; Vera-Carbonell et al., 2012).”
Tooth, hair and claw: Comparing epithelial stem cell niches of ectodermal appendages
Naveau, A., Seidel, K., & Klein, O. D. (2014) · Experimental Cell Research · doi:10.1016/j.yexcr.2014.02.003 · Cited by 18 · see citing works
Itin, P. H. (2013) · Dermatology · doi:10.1159/000346613 · Cited by 17 · see citing works
Embryonic stem cells as an ectodermal cellular model of human p63-related dysplasia syndromes
Rostagno, P., Wolchinsky, Z., Viganò, M., Shivtiel, S., Zhou, H., van Bokhoven, H., Ferone, G., Missero, C., Mantovani, R., Aberdam, D., et al. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.03.154 · Cited by 14 · cited 1× · see citing works
“Conditions previously thought to be unrelated can result from allelic mutations that lead to markedly different clinical phenotypes (e.g., TP63-associated syndromes) (Rostagno et al., 2010; Wisniewski & Trzeciak, 2012).”
BackgroundSalinas, C. F., Irvine, A. D., Itin, P. H., DiGiovanna, J. J., Schneider, H., Clarke, A. J., McGovern, L. A. S., & Fete, M. D. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36507 · Cited by 13 · cited 1× · see citing works
“Dr. Carlos Salinas chaired two conferences in Charleston, South Carolina, in 2008 and 2012; with the proceedings published in the American Journal of Medical Genetics (Salinas et al., 2014; Salinas, Jorgenson, Wright, DiGiovanna, & Fete, 2009).”
BackgroundSelf-citationFREIRE‐MAIA, N. (1977) · Human Heredity · doi:10.1159/000152876 · Cited by 4 · cited 6× · see citing works
“The definition for inclusion as an ED does not extend to all derivatives of ectoderm and is most often limited to conditions affecting the skin and mucosa and/or their appendages (Freire-Maia, 1977; Itin, 2013; Pagnan & Visinoni, 2014).”
BackgroundMethodInfluential
Flagged first, then by citations
Cited by
Sorted by citations
Molecular Mechanisms of p63-Mediated Squamous Cancer Pathogenesis
Moses, M. A., George, A. L., Sakakibara, N., Mahmood, K., Ponnamperuma, R. M., King, K. E., & Weinberg, W. C. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20143590 · Cited by 99 · see citing works
“The ectodermal dysplasia syndromes are linked to distinct domains of the p63 gene and display varying levels of involvement of the epidermis and associated appendages [21].”
BackgroundInfluentialMolecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update
Peschel, N., Wright, J. T., Koster, M. I., Clarke, A. J., Tadini, G., Fete, M., Hadj-Rabia, S., Sybert, V. P., Norderyd, J., Maier-Wohlfart, S., et al. (2022) · Genes · doi:10.3390/genes13122327 · Cited by 60 · see citing works
“On the other hand, mutated IKBKG, which is causative of Incontinentia pigmenti (OMIM #308300), leads to short stature, abnormal eye development, hypodontia, and may also affect the central nervous system [3].”
BackgroundInfluentialSelf-citationAlopecia areata: A psychodermatological perspective
Torales, J. C., Castaldelli-Maia, J. M., Ventriglio, A., Almirón‐Santacruz, J., Barrios, I., O’Higgins, M. G., García, Ó., Navarro, R. E., Melgarejo, O. J., & Jafferany, M. (2021) · Journal of Cosmetic Dermatology · doi:10.1111/jocd.14416 · Cited by 48 · see citing works
Recognizable neonatal clinical features of aplasia cutis congenita
Schierz, I. A. M., Giuffrè, M., Vecchio, A. D., Antona, V., Corsello, G., & Piro, E. (2020) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-020-0789-5 · Cited by 47 · see citing works
Serra, G., Antona, V., Giuffrè, M., Pomi, F. L., Scalzo, L. L., Piro, E., Schierz, I. A. M., & Corsello, G. (2021) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-021-01152-y · Cited by 43 · see citing works
Martínez‐Romero, M. D. C., Ballesta‐Martínez, M. J., López‐González, V., Sánchez-Soler, M. J., Serrano-Antón, A. T., Barreda‐Sánchez, M., Rodríguez-Peña, L., Martínez-Menchón, M. T., Frías-Iniesta, J., Sánchez‐Pedreño, P., et al. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1251-x · Cited by 42 · see citing works
“An attenuated phenotype has been considered to be a non-syndromic trait when the patient is affected by only one impaired ectoderm-derived structure [1].”
BackgroundAnti–USAG-1 therapy for tooth regeneration through enhanced BMP signaling
Murashima-Suginami, A., Kiso, H., Tokita, Y., et al. (2021) · Science Advances · doi:10.1126/sciadv.abf1798 · Cited by 40 · see citing works
“EDA controls BMP activity (35), whereas EDAR acts on Wnt target genes (36, 37).”
BackgroundSchneider, H., Schweikl, C., Faschingbauer, F., Hadj-Rabia, S., & Schneider, P. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24087155 · Cited by 41 · see citing works
“Ectodermal dysplasias are congenital genetic conditions affecting the development and/or homeostasis of two or more derivatives from the embryonic ectoderm, such as hair, teeth, nails, and certain glands in the skin and mucous membranes [1,2].”
BackgroundSelf-citationEctodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
Yang, R., Mei, Y., Jiang, Y.-H., Li, H., Zhao, R., Sima, J., & Yao, Y. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23168911 · Cited by 33 · see citing works
The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective
Gao, Y., Jiang, X., Wei, Z., Long, H., & Lai, W. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1168538 · Cited by 33 · see citing works
“An attenuated phenotype has been regarded as a non-syndromic trait when the patient is affected by only one defective ectoderm-derived structure (Martínez-Romero et al., 2019;Wright et al., 2019).”
BackgroundBuckley, R. M., Gandolfi, B., Creighton, E. K., Pyne, C., LeRoy, M. L., Senter, D. A., Bouhan, D. M., Gobble, J. R., Abitbol, M., & Lyons, L. A. (2020) · Genes · doi:10.3390/genes11060682 · Cited by 30 · see citing works
“These coat mutations are innocuous in the cat, 71 but the same genes for atrichia and hypotrichia cause ectodermal dysplasias in humans 72 [12-15] and other species [16-22].”
BackgroundBachmann–Bupp syndrome and treatment
Bachmann, A. S., VanSickle, E., Michael, J., et al. (2023) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15687 · Cited by 29 · see citing works
“26, 27 Hair loss in BABS is typically not present at birth, or hair loss has an unusual pattern where hair may be present on the apex of the head and at the bottom with a ring of alopecia between.”
BackgroundEctodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders
Schneider, H. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1000744 · Cited by 26 · see citing works
Self-citationAhmed, H. A., El‐Kamah, G. Y., Rabie, E., Mostafa, M. I., Abouzaid, M. R., Hassib, N. F., Mehrez, M., Kader, M. A., Mohsen, Y. H., Zada, S. K., et al. (2021) · Genes · doi:10.3390/genes12091389 · Cited by 24 · see citing works
“The involvement of EDA and WNT signaling pathways have been described in HED as well as other ED phenotypes [1].”
BackgroundYu, K., Huang, C., Wan, F., Jiang, C., Chen, J., Li, X., Wang, F., Wu, J., Lei, M., & Wu, Y. (2023) · Nature Communications · doi:10.1038/s41467-023-36367-6 · Cited by 24 · see citing works
Zhao, M., Yin, N., Yang, R., Li, S., Zhang, S., & Faiola, F. (2024) · Environmental Science & Technology · doi:10.1021/acs.est.3c10758 · Cited by 21 · see citing works
Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
How, K. N., Leong, H. J. Y., Pramono, Z. A. D., et al. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.900606 · Cited by 22 · see citing works
Cerezo-Cayuelas, M., Pérez-Silva, A., Serna-Muñoz, C., Vicente, A., Martínez-Beneyto, Y., Cabello-Malagón, I., & Ortiz-Ruíz, A. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02533-0 · Cited by 18 · see citing works
“The categories are the EDA/NFKappaB pathway, the WNT pathway, the TP63 pathway, the structure group and other/ unknown [1].”
BackgroundMethodBowles, B., Ferrer, A., Nishimura, C. J., Pinto e Vairo, F., Rey, T., Leheup, B., Sullivan, J., Schoch, K., Stong, N., Agolini, E., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62347 · Cited by 20 · see citing works
“Individuals were classified as having ectodermal dysplasia if they presented with phenotypes affecting two or more ectodermal structures (e.g., teeth, hair, nails, or skin) (Wright et al., 2019).”
BackgroundAdvances in tooth agenesis and tooth regeneration
Ravi, V., Murashima-Suginami, A., Kiso, H., et al. (2023) · Regenerative Therapy · doi:10.1016/j.reth.2023.01.004 · Cited by 19 · see citing works
“EDA controls BMP activity [63] and EDAR targets Wnt genes [64,65].”
BackgroundCanine noninflammatory alopecia: An approach to its classification and a diagnostic aid
Welle, M. M. (2023) · Veterinary Pathology · doi:10.1177/03009858231170295 · Cited by 22 · see citing works
“111,112,153 Ectodermal dysplasia, which is associated with congenital alopecia, is mostly caused by variants of the ectodysplasin A (EDA) gene.”
BackgroundPhenotypic and genetic spectrum of incontinentia pigmenti – a large case series
Hübner, S., Schwieger‐Briel, A., Technau‐Hafsi, K., et al. (2021) · JDDG Journal der Deutschen Dermatologischen Gesellschaft · doi:10.1111/ddg.14638 · Cited by 19 · see citing works
Ectodermal Dysplasia – An Overview and Update
Dev, A., Malhi, K., & Mahajan, R. (2024) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_599_23 · Cited by 19 · see citing works
“Ectodermal dysplasias (ED) are a group of inherited disorders affecting the development or homeostasis of two or more ectodermal derivatives, [1] including hair, teeth, nails, and other structures like glands, retina, cochlea, central nervous system (CNS), and adrenal medulla.”
BackgroundP63‐related disorders: Dermatological characteristics in 22 patients
Maillard, A., Alby, C., Gabison, E. E., Doan, S., Caux, F. A., Bodemer, C., & Hadj-Rabia, S. (2019) · Experimental Dermatology · doi:10.1111/exd.14045 · Cited by 18 · see citing works
Self-citationOcular manifestations of ectodermal dysplasia
Prat, D. L., Katowitz, W. R., Strong, A., & Katowitz, J. A. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01824-2 · Cited by 18 · see citing works
“Introduction Ectodermal dysplasias (ED) are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including skin, hair, teeth, nails, and sweat glands [1].”
BackgroundSkin manifestations of inborn errors of NF-κB
Shen, Y., Boulton, A. P. R., Yellon, R., & Cook, M. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2022.1098426 · Cited by 19 · see citing works
“Frontiers in Pediatrics 04 (apocrine glands, hair, and nails), as well as mammary glands, nervous system, placodes, anterior hypophysis, lens, and olfactory epithelium (Table 2) (27, 28).”
BackgroundRare Genetic Disorders: Novel Treatment Strategies and Insights Into Human Biology
Koch, P. J., & Koster, M. I. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.714764 · Cited by 14 · see citing works
Self-citationDufour, W., Alawbathani, S., Jourdain, A.-S., Asif, M., Baujat, G., Becker, C., Budde, B., Gallacher, L., Georgomanolis, T., Ghoumid, J., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.04.022 · Cited by 14 · see citing works
Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Henne, S. K., Aldisi, R. S., Sivalingam, S., Hochfeld, L. M., Borisov, O., Krawitz, P. M., Maj, C., Nöthen, M. M., & Heilmann‐Heimbach, S. (2023) · Nature Communications · doi:10.1038/s41467-023-41186-w · Cited by 13 · see citing works
Meibomian gland development: Where, when and how?
Verma, S., Moreno, I. Y., Trapp, M. E., Ramirez, L., Gesteira, T. F., & Coulson‐Thomas, V. J. (2023) · Differentiation · doi:10.1016/j.diff.2023.04.005 · Cited by 13 · see citing works
Niekamp, N., Kleinheinz, J., Reissmann, D. R., Bohner, L. O. L., & Hanisch, M. R. (2020) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph18010143 · Cited by 11 · see citing works
“A new classification for ED was recently published, which classifies and organizes ED according to phenotype, genotype, and molecular signaling pathway (Table 1) [2].”
BackgroundMolecular and Cellular Function of p63 in Skin Development and Genetic Diseases
Girolamo, D. D., Iorio, E. D., & Missero, C. (2024) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2024.08.011 · Cited by 11 · see citing works
Cleft Lip and Palate in Ectodermal Dysplasia
Ganske, I. M., Irwin, T., Langa, O. C., Upton, J. M., Tan, W., & Mulliken, J. B. (2020) · The Cleft Palate-Craniofacial Journal · doi:10.1177/1055665620949124 · Cited by 10 · see citing works
“Email: john.mulliken@childrens.harvard.edu (Rudiger et al., 1970; Pinheiro & Freire-Maia, 1994; Rinne et al., 2006; Visononi et al., 2009; Wright et al., 2019).”
Schweikl, C., Wohlfart, S., Schneider, H., & Park, J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232012189 · Cited by 8 · see citing works
Self-citationi-Dent: A virtual assistant to diagnose rare genetic dental diseases
Kadi, H., Kawczynski, M., Bendjama, S., et al. (2024) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2024.108927 · Cited by 9 · see citing works
Yu, K., Shen, Y., Jiang, C., Huang, W., Wang, F., & Wu, Y. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1824 · Cited by 8 · see citing works
Hypohidrotic ectodermal dysplasia
Jarliński, P., Węgłowska, J., Odziomek, A., Rebizak, E. A., & Marczuk, J. (2020) · Dermatology Review · doi:10.5114/dr.2020.103892 · Cited by 9 · see citing works
X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA
O’Toole, D., Häfliger, I. M., Leuthard, F., Schumaker, B. A., Steadman, L., Murphy, B. G., Drögemüller, C., & Leeb, T. (2021) · Animals · doi:10.3390/ani11030657 · Cited by 9 · see citing works
“Additionally, an HED syndrome affecting Charolais cattle due to a genetic variant in the EDAR gene was reported.”
BackgroundInfluentialHerlin, L. K., Schmidt, S. A. J., Mogensen, T. H., et al. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03480-8 · Cited by 8 · see citing works
Rotunno, R., Diociaiuti, A., Dentici, M. L., et al. (2021) · Genes · doi:10.3390/genes12050748 · Cited by 8 · see citing works
“Ectodermal dysplasias (EDs) comprise a broad and heterogeneous group of genetic disorders affecting the development and/or homeostasis of two or more ectodermal derivatives, including the hair, teeth, nails, eccrine and other glands [1,2].”
BackgroundEctodermal Dysplasia: A Review
(2021) · Makara Journal of Health Research · doi:10.7454/msk.v25i3.1305 · Cited by 11 · see citing works
Suzuki, A., Yoshioka, H., Liu, T., Gull, A., Singh, N., Le, T., Zhao, Z., & Iwata, J. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.788259 · Cited by 7 · see citing works
“…amelogenesis imperfecta (Mustonen et al., 2003); in humans, mutations in either EDA or EDAR have been found in hypohidrotic ectodermal dysplasia and isolated tooth agenesis, but not in amelogenesis imperfecta (Shen et al., 2019; Wright et al., 2019; Yu et al., 2019; Andreoni et al., 2021).”
BackgroundRabie, E., Sayed, I. S. M., Amr, K. S., Ahmed, H. A., Mostafa, M. I., Hassib, N. F., El-Sayed, H. M., Zada, S. K., & El‐Kamah, G. Y. (2022) · Genes · doi:10.3390/genes13061056 · Cited by 7 · see citing works
“Consequently, the Freire-Maia classification system has been dynamically updated to include newly emerging causative genes and syndromes, and exclude single case reports [1,8,9].”
BackgroundMethodInfluentialHypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions
Willems, M., Wells, C. F., Coubes, C., Péquignot, M. O., Kuony, A., & Michon, F. (2022) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.63.9.3 · Cited by 7 · see citing works
Ding, M., Fan, Y., Qin, M., Claes, P. D., Matthews, H. S., Peng, H., Zhao, Y., & Zhu, J. (2020) · PubMed · Cited by 7 · see citing works
Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia
Callea, M., Bignotti, S., Semeraro, F., Cammarata‐Scalisi, F., El-Feghaly, J. R., Morabito, A., Romano, V., & Willoughby, C. E. (2022) · Children · doi:10.3390/children9091357 · Cited by 7 · see citing works
“The murine corneal epithelium and conjunctiva express the Eda receptor (EDAR) [54], which is mutated in human HEDs.”
BackgroundInfluentialBrooks, D., Burke, E. A., Lee, S., Eble, T. N., O’Leary, M., Osei‐Owusu, I., Rehm, H. L., Dhar, S. U., Emrick, L., Bick, D. P., et al. (2024) · Human Genetics · doi:10.1007/s00439-024-02657-2 · Cited by 7 · see citing works
“A subset of these disorders can also be associated with limb anomalies, such as ectrodactyly, in some cases (Wright et al. 2019).”
Nieto‐Benito, L. M., Molina‐López, I., Rodríguez, M. F., et al. (2021) · Pediatric Dermatology · doi:10.1111/pde.14512 · Cited by 7 · see citing works
Main genetic entities associated with tooth agenesis
Cammarata-Scalisi, F., Willoughby, C. E., El-Feghaly, J. R., Tadich, A. C., Castillo, M. A., Alkhatib, S., Elsherif, M. A. E., El-Ghandour, R. K., Coletta, R., Morabito, A., et al. (2024) · Clinical Oral Investigations · doi:10.1007/s00784-024-05941-7 · Cited by 6 · see citing works
Morandini, A. C., Adeogun, O., Black, M., Holman, E., Collins, K., James, W., Lally, L., Fordyce, A., Dobbs, R., McDaniel, E., et al. (2025) · Frontiers in Pediatrics · doi:10.3389/fped.2025.1523313 · Cited by 7 · see citing works
Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children
Kamat, D., Mahajan, R., Chatterjee, D., et al. (2022) · Indian Journal of Dermatology · doi:10.4103/ijd.ijd_406_21 · Cited by 5 · see citing works
Rare diseases of ectoderm: Translating discovery to therapy
Wright, J. T., Abbott, B. M., Salois, M. N., Gugger, J. A., Parraga, S. P., Swanson, A. K., Fete, M. D., & Koster, M. I. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63090 · Cited by 5 · see citing works
“2023;191A:902–909.wileyonlinelibrary.com/journal/ajmga mode of inheritance, and affected molecular pathways helping set the stage for advancing diagnostics and therapeutics (Fine et al., 2014; Peschel et al., 2022; Wright et al., 2019).”
BackgroundInfluentialSelf-citationNguyen, J. P., Chandy, T. S., Sparks, J. W., et al. (2020) · Journal of Prosthodontics · doi:10.1111/jopr.13241 · Cited by 5 · see citing works
Wang, B., Zhao, J.-L., Wang, G.-Y., et al. (2025) · Stem Cell Research & Therapy · doi:10.1186/s13287-024-04129-w · Cited by 4 · see citing works
“Mutations in the p63 gene result in severe abnormalities, leading to syndromes of ectodermal dysplasia that affect the cornea and other ectodermal tissues [36, 37], highlighting the critical role of this transcription factor in normal corneal development.”
Genetic and phenotypic heterogeneity of tooth agenesis: An update including candidate genes
Li, W., & Xu, W. (2025) · Archives of Oral Biology · doi:10.1016/j.archoralbio.2025.106270 · Cited by 4 · see citing works
Novel LRP6 Mutations Causing Non-Syndromic Oligodontia
Lee, Y., Chae, W., Kim, Y. J., & Kim, J.-W. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12091401 · Cited by 4 · see citing works
“Therefore, TA can be classified as syndromic or non-syndromic TA, but the defects in the same gene can cause both TAs without a clear-cut boundary [4].”
BackgroundPotential Risks of Corneal Refractive Surgery in Patients with Ectodermal Dysplasia
Moshirfar, M., Williams, D. J., Ronquillo, Y. C., & Ply, B. K. (2022) · Ophthalmology and Therapy · doi:10.1007/s40123-022-00515-w · Cited by 4 · see citing works
“This leads to decreased reliability of topographical measurements preoperatively, an increased risk of intraoperative complications during LASIK, PRK, or SMILE, and a greater likelihood of encountering postoperative complications of delayed corneal wound healing, including infectious keratitis and epithelial ingrowth…”
BackgroundDental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency
García-Martínez, V.-E., Galiana-Vallés, X., Alcalá, O. Z., Rodríguez‐López, R., Llena, C., Martínez‐Romero, M. D. C., & Guillén‐Navarro, E. (2023) · Children · doi:10.3390/children10020356 · Cited by 3 · see citing works
“and, sometimes, intellectual disability [3].”
BackgroundNovel homozygous KREMEN1 mutation causes ectodermal dysplasia
Lee, Y., Zhang, H., Seymen, F., et al. (2021) · Oral Diseases · doi:10.1111/odi.13921 · Cited by 3 · see citing works
Capuzzello, G., Jacinto, J. G. P., Häfliger, I. M., Chapman, G. E., Soto, S., Viora, L., Jonsson, N. N., & Drögemüller, C. (2022) · Acta veterinaria Scandinavica · doi:10.1186/s13028-022-00641-2 · Cited by 3 · see citing works
Hajra, B., Abdullah, Bibi, N., et al. (2023) · Anais Brasileiros de Dermatologia · doi:10.1016/j.abd.2022.07.009 · Cited by 3 · see citing works
Xing, L., Liu, Y., Wu, J., Song, C., & Jiang, B. (2023) · Journal of Histochemistry & Cytochemistry · doi:10.1369/00221554231201691 · Cited by 3 · see citing works
“10 The mandibular morphology was abnormal in EDA −/− mice (Tabby mice, a mouse model of XLHED), which showed the lower corpus of the jaw, narrower neck of the condyle, and marked backward projection of the coronoid process.”
BackgroundRalser, D. J., Kumar, S., Borisov, O., et al. (2020) · British Journal of Dermatology · doi:10.1111/bjd.19123 · Cited by 3 · see citing works
Tumminello, M., Gangemi, A., Matina, F., Guardino, M., Giuffrè, B. L., & Corsello, G. (2021) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-021-01078-5 · Cited by 3 · see citing works
Molecular basis and genetics of hypohidrotic ectodermal dysplasias
Kovalskaia, V. A., Cherevatova, T., Polyakov, A. V., & Рыжкова, О. П. (2023) · Vavilov Journal of Genetics and Breeding · doi:10.18699/vjgb-23-78 · Cited by 2 · see citing works
“Ectodermal dysplasia (ED) refers to a diverse set of molecular genetic disorders that share a common feature of developmental abnormalities or imbalances affecting two or more ectodermal structures (Wright et al., 2019).”
BackgroundDing, Y., Lu, G., Zhao, Y., Zhang, Y. Q., Zhang, J., Ma, J., Yuan, Y., Liu, B., Liu, W., & Shen, W. (2025) · BMC Oral Health · doi:10.1186/s12903-025-05741-9 · Cited by 2 · see citing works
“Previous research revealed that NF-κB mostly mediates the effects of EDA1/EDAR signaling [11–12], although exactly how EDA1 regulates ectoderm development remains under investigation.”
Zhang, Z., Zhang, G., Lv, Y., et al. (2025) · British Journal of Dermatology · doi:10.1093/bjd/ljaf390 · Cited by 2 · see citing works
Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR
Graversen, L., Sommerlund, M., Kruse, C., et al. (2024) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2024.104982 · Cited by 2 · see citing works
Uchiyama, E., Takeda, K., Ono, H., et al. (2025) · Journal of Cutaneous Immunology and Allergy · doi:10.3389/jcia.2025.13813 · Cited by 2 · see citing works
An unusual manifestation of X‐linked hypohidrotic ectodermal dysplasia with palmoplantar keratoderma
de Brito, M., Ferguson, L., Mansour, S., et al. (2019) · Clinical and Experimental Dermatology · doi:10.1111/ced.14096 · Cited by 2 · see citing works
Mosaic TP63 variant and associated ectodermal dysplasia features
Chen, V., Issa, N. T., & Schmidt, F. B. (2021) · JAAD Case Reports · doi:10.1016/j.jdcr.2021.09.016 · Cited by 1 · see citing works
Fang, Y., Zhu, F.-N., Liu, X.-J., et al. (2023) · Clinical Cosmetic and Investigational Dermatology · doi:10.2147/ccid.s407506 · Cited by 1 · see citing works
“of the nuclear factor kappa B (NF-κB) signaling pathway.(15,16) This disease has characteristic skin lesions and can also involve teeth, eyes, hair, the central nervous system and the musculoskeletal system.”
BackgroundCongenital and Hereditary Disorders of the Skin
Bayart, C. B., & Brandling‐Bennett, H. A. (2023) · Avery's Diseases of the Newborn · doi:10.1016/b978-0-323-82823-9.00092-1 · Cited by 1 · see citing works
Schmid, J. Q., Stamm, T., Middelberg, C., Oelerich, O., Hanisch, M., & Hohoff, A. (2023) · Informationen aus Orthodontie & Kieferorthopädie · doi:10.1055/a-2088-9896 · Cited by 1 · see citing works
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea
Kim, M. J., Lee, J., Chae, S. W., Cho, S. I., Moon, J., Ko, J. M., Chae, J., & Seong, M. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03331-6 · Cited by 1 · see citing works
“…group A, characterized by cases where at least two critical ectodermal tissues, such as hair, teeth, nails, eccrine and other glands, were affected, and group B, encompassing conditions that involved one of the aforementioned tissues along with at least one other ectodermal derivative [2].”
BackgroundSpeech Aid Prostheses For Patients With Cleft and Other Craniofacial Birth Conditions
Reisberg, D. J. (2024) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000010814 · Cited by 1 · see citing works
Taşdelen, E., Gönül, M., Gündüz, B. Ö., et al. (2025) · Molecular Syndromology · doi:10.1159/000547411 · Cited by 1 · see citing works
“Split-hand malformations, also known as ectrodactyly, can present with a wide spectrum of anomalies, including syndactyly, median clefts of the hands and/or feet, or hypoplasia/aplasia of the phalanges [7].”
Tomar, S., Srivastava, N., Rana, V., Goswami, R., Kaushik, N., Saxena, D., Pruthi, T., Rawat, P., & Kaur, N. (2025) · European Archives of Paediatric Dentistry · doi:10.1007/s40368-025-01125-3 · Cited by 1 · see citing works
Chen, M., Yang, L., Aol, L., Li, W., Cao, Z., Mao, C., Zhou, C., Tan, S., Cheng, H., Hu, W., et al. (2025) · ACS Sensors · doi:10.1021/acssensors.5c02488 · Cited by 1 · see citing works
Murashima-Suginami, A., Ishimori, T., Sawada, T., et al. (2026) · Journal of Oral Biosciences · doi:10.1016/j.job.2026.100775 · Cited by 1 · see citing works
Schneider, H., Hadj-Rabia, S., Berking, C., Weider, M., Steffann, J., Rieker, R. J., Gölz, L., & Peschel, N. (2026) · Experimental Dermatology · doi:10.1111/exd.70331 · Cited by 1 · see citing works
Self-citationOral rehabilitation of a patient with hidrotic ectodermal dysplasia (Clouston syndrome)
Розов, Р. А., Trezubov, V. N., Gerasimov, A. B., & Emdin, L. M. (2021) · Pediatric Traumatology Orthopaedics and Reconstructive Surgery · doi:10.17816/ptors42338 · Cited by 1 · see citing works
Wang, Y., Zhang, C., Zhou, B., Hui, L., Zheng, L., Chen, X., Wang, S., Yang, L., Hao, S., & Zhang, Q. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.916340 · Cited by 1 · see citing works
“…cryptic splice site, HED, ectodysplasin A INTRODUCTION Ectodermal dysplasia (ED) is a set of genetic diseases with two or more abnormally developed ectoderm-derived structures, including hair, teeth, nails, skin, and sweat glands (Pigno et al., 1996; Vaidya et al., 2013;Wright et al., 2019).”
BackgroundAli, G., Sadia, S., Ain-ul-Batool, S., et al. (2023) · Genetics Research · doi:10.1155/2023/9999660 · Cited by 1 · see citing works
Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1
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Hair Evaluation in Orthodontic Patients with Oligodontia
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“Two of the abnormalities mentioned above are sufficient to diagnose an ectodermal defect [35].”
BackgroundEDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
Rietmann, S. J., Cochet‐Faivre, N., Dropsy, H., Jagannathan, V., Chevallier, L., & Leeb, T. (2024) · Genes · doi:10.3390/genes15070854 · Cited by 1 · see citing works
“This phenotype has been interchangeably termed hypo-hidrotic ectodermal dysplasia (HED), anhidrotic ectodermal dysplasia, or Christ–Siemens– Touraine syndrome [3].”
BackgroundDing, M., Kang, Y., Qin, M., & Zhu, J. (2024) · International Journal of Paediatric Dentistry · doi:10.1111/ipd.13271 · Cited by 1 · see citing works
Jakhar, A., Łukaszyk, K., Puławska-Czub, A., & Kobielak, K. (2025) · Pediatria i Medycyna Rodzinna · doi:10.15557/pimr.2025.0006 · Cited by 1 · see citing works
Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Sharma, V. L., Kumawat, T. K., Sharma, G., et al. (2021) · IntechOpen eBooks · doi:10.5772/intechopen.96877 · Cited by 1 · see citing works
Developmental Disturbances Of The Teeth, Anomalies Of Number
McKinney, R., & Olmo, H. (2021) · StatPearls · Cited by 1 · see citing works
Neuropsychological Profile of an Adolescent Female With Ectodermal Dysplasia With Hypohidrosis
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Phänotypisches und genetisches Spektrum von Incontinentia pigmenti – eine große Fallserie
Hübner, S., Schwieger‐Briel, A., Technau‐Hafsi, K., et al. (2022) · JDDG Journal der Deutschen Dermatologischen Gesellschaft · doi:10.1111/ddg.14638_g · Cited by 1 · see citing works
Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia
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Differential Diagnosis of Complex Conditions in Paleopathology: A Mutational Spectrum Approach
Lukashal, E. (2021) · UWSpace (University of Waterloo) · Cited by 1 · see citing works
Effect of EDA1 Variants on Human Pulp Stem Cell Biology and Odontogenic DifferentiationPreprint
Ding, Y., Lu, G., Zhang, Y. Q., Zhang, J., Ma, J., Zhao, Y. L., Yuan, Y., Liu, B., Liu, W., & Shen, W. (2024) · Preprints.org · doi:10.20944/preprints202408.0373.v1 · Cited by 1 · see citing works
X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype
Chapagain, L., Dahal, A., Gupta, P., Pudasaini, P., & Paudel, U. (2026) · Clinical Case Reports · doi:10.1002/ccr3.72650
“Additional features include dry, wrinkled skin, frontal bossing, saddle nose, and periorbital hyperpigmentation [4].”
Alazmah, A. (2025) · Healthcare · doi:10.3390/healthcare13131543 · Cited by 1 · see citing works
“Moreover, the child’s capacity to manage and adapt to dental treatment is a key factor influencing the choice and timing of restorative interventions, particularly in cases requiring complex or extended care [8].”
- Authors
- Wright, J. T., Fete, M., Schneider, H., Zinser, M., Koster, M. I., Clarke, A. J., Hadj‐Rabia, S., Tadini, G., Pagnan, N., Visinoni, A. F., Bergendal, B., Abbott, B., Fete, T., Stanford, C., Butcher, C., D'Souza, R. N., Sybert, V. P., & Morasso, M. I.
- Affiliations
- University of North Carolina at Chapel Hill (US)
- National Foundation for Ectodermal Dysplasias (US)
- Universitätsklinikum Erlangen (DE)
- Cardiff University (GB)
- Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163, Descartes ‐ Sorbonne Paris Cité University, Imagine Institute, Necker‐Enfants Malades Universitary Hospital Paris France
- University of Milan (IT)
- Universidade Federal do Paraná (BR)
- Positivo University Curitiba Brazil
- Jönköping University (SE)
- University of Illinois Chicago (US)
- University of Missouri (US)
- Academic Affairs and Education, Health Sciences The University of Utah Salt Lake City Utah
- University of Washington (US)
- Laboratory of Skin Biology National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health Bethesda, MD
- Corresponding author
- Wright, John Timothy
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2019-01-31
- Volume
- 179
- Issue
- 3
- Pages
- 442-447
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC6421567
- OpenAlex
- W2914468110
- Cited by
- 185
- References
- 31
- Citations by year
- 2026: 23 · 2025: 29 · 2024: 31 · 2023: 25 · 2022: 34 · 2021: 28 · 2020: 11 · 2019: 4
- FWCI
- 1.69
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Dental and Craniofacial Research (R13DE018845, R01DE016079)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Keywords
- ectodermal dysplasia, classification systems, genotype-phenotype correlation, molecular pathways, Wnt signaling, p63, tooth agenesis, mode of inheritance, genetic variants, connexins, keratin, cadherins
- MeSH terms
- Alleles, Ectodermal Dysplasia, Genotype, Humans, Phenotype, Signal Transduction, Biomarkers, Genetic Predisposition to Disease, Databases, Genetic, Genetic Association Studies
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