Distúrbio genético do desenvolvimento do ectoderma caracterizado pela malformação das estruturas ectodérmicas, como pele, cabelo, dentes e glândulas sudoríparas. Compreende três subtipos clinicamente quase indistinguíveis com sudorese prejudicada como sintoma principal: síndrome de Christ-Siemens-Touraine (CST) (ligada ao X), HED autossômica recessiva (AR) e autossômica dominante (AD), bem como um quarto subtipo raro com imunodeficiência como sintoma principal (HED com imunodeficiência).
Introdução
O que você precisa saber de cara
Distúrbio genético do desenvolvimento do ectoderma caracterizado pela malformação das estruturas ectodérmicas, como pele, cabelo, dentes e glândulas sudoríparas. Compreende três subtipos clinicamente quase indistinguíveis com sudorese prejudicada como sintoma principal: síndrome de Christ-Siemens-Touraine (CST) (ligada ao X), HED autossômica recessiva (AR) e autossômica dominante (AD), bem como um quarto subtipo raro com imunodeficiência como sintoma principal (HED com imunodeficiência).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 50 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 136 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked recessive.
Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:11039935, PubMed:27144394, PubMed:34582123, PubMed:8696334). May also play a role in cell adhesion (By similarity) Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R Binds only to the receptor EDA2R
Cell membraneSecreted
Ectodermal dysplasia 1, hypohidrotic, X-linked
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias.
This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B
CytoplasmNucleus
Epilepsy, progressive myoclonic 1
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1 is an autosomal recessive form characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.
Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954). Required for normal tooth development (PubMed:17847007, PubMed:28589954, PubMed:29178643). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts (PubMed:28589954). Required for normal proliferation of basal cells in
Secreted, extracellular space, extracellular matrixSecreted
Odonto-onycho-dermal dysplasia
A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin.
Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes (PubMed:11357136, PubMed:11448771, PubMed:15778503, PubMed:16341017, PubMed:16513652, PubMed:17326769, PubMed:17400545, PubMed:19107203, PubMed:19293931, PubMed:19801552, PubMed:28341812, PubMed:34896607). Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in various processes including retinal an
Cell membraneEndoplasmic reticulumMembrane raft
Coronary artery disease, autosomal dominant, 2
A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction.
Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6
Membrane
Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity)
CytoplasmCell junction
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands.
E3 ubiquitin ligase that, together with UBE2N and UBE2V1, mediates the synthesis of 'Lys-63'-linked-polyubiquitin chains conjugated to proteins, such as ECSIT, IKBKG, IRAK1, AKT1 and AKT2 (PubMed:11057907, PubMed:18347055, PubMed:19465916, PubMed:19713527, PubMed:27746020, PubMed:31620128). Also mediates ubiquitination of free/unanchored polyubiquitin chain that leads to MAP3K7 activation (PubMed:19675569). Leads to the activation of NF-kappa-B and JUN (PubMed:16378096, PubMed:17135271, PubMed:1
CytoplasmCytoplasm, cell cortexNucleusLipid droplet
Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:36651806, PubMed:7479976). On cellular stimulation by immune and pro-inflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription (PubMed:7479976, PubMed:7628694, PubMed:7796813, PubMed:7878466)
CytoplasmNucleus
Ectodermal dysplasia and immunodeficiency 2
A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant.
Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B
Cytoplasm
Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.
Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death
Membrane
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.
Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor (PubMed:14695475, PubMed:20724660, PubMed:21518757, PubMed:9751060). Its binding to scaffolding polyubiquitin plays a key role in IKK activation by multiple signaling receptor pathways (PubMed:16547522, PubMed:18287044, PubMed:19033441, PubMed:19185524, PubMed:21606507, PubMed:27777308, PubMed
CytoplasmNucleus
Ectodermal dysplasia and immunodeficiency 1
A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDAID1 is an X-linked recessive disorder characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, and may be fatal in childhood.
Variantes genéticas (ClinVar)
799 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 316 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
56 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Displasia ectodérmica hipohidrótica
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
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Outros ensaios clínicos
21 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure.
Hypohidrotic ectodermal dysplasia (HED) includes some rare congenital disorders affecting the skin, its appendages, and the teeth. Although hypohidrosis can be life-threatening, research on the impact of HED on the patient's quality of life has been very limited so far. Aiming at the development of a condition-specific patient-reported outcome measure (PROM) assessing health-related quality of life (HRQoL), we studied the HRQoL of children and adolescents with HED. Focus (group) interviews were conducted with patients at the age of 8 to 17 years and parents of patients aged 2-17 years, all recruited from the HED patient registry of the University Hospital Erlangen, Germany. A qualitative interview analysis was performed, identifying key themes and generating a category system based on relevant interview excerpts. Using the Card-sorting method, an item list for the pilot version of the questionnaire was made. Eleven focus (group) interviews with 9 children/adolescents and 22 parents provided information on 24 patients. The analysis identified 562 statements about HRQoL, which were categorized into six main domains: physical well-being, emotional well-being, social well-being, autonomy, childcare/school/education, and parental well-being. On the basis of these statements, age-adjusted pilot versions of a questionnaire were developed, consisting of 83 items each: (1) an observer report for parents of children aged 2-7 years, (2) a self-report combined with an observer report for children and adolescents aged 8-17 years. This study is the first to explore HRQoL of children and adolescents with HED through qualitative interviews. Our findings highlight the impact of heat intolerance on daily life, the emotional burden of physical limitations, and the crucial role of coping strategies, social inclusion, and supportive relationships. The final validation of the new PROM, which shall enable the systematic integration of patient perspectives into clinical practice and research, is underway.
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia (HED) encompasses a group of rare genetic disorders affecting two or more ectodermal derivatives (hair, teeth, nails, certain glands). The condition can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner, with the majority of cases caused by mutations in the EDA, EDAR, EDARADD, and WNT10A genes. This study aimed to evaluate the distribution of pathogenic and likely pathogenic variants in 261 unrelated families affected by HED in the Russian Federation (comprising 455 patients in total) between 2007 and 2024. To achieve this objective, we employed Sanger sequencing, targeted gene panel sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and segregation analysis to clarify the pathogenicity of variants of uncertain significance. A total of 261 unrelated probands, comprising 196 males (75.1%) and 65 females (24.9%), were included. Pathogenic or likely pathogenic variants were identified in 183 probands (70.1%). The distribution of mutated genes was as follows: EDA (n = 155, 84.7%), WNT10A (n = 16, 8.8%), and EDAR (n = 12, 6.5%). No apparent pathogenic mutations were detected in EDARADD. Additionally, we report 46 novel causative variants for HED, along with recurrent mutations in the EDA, WNT10A, and EDAR genes. We also identified that 28.8% of all causative variants in EDA are de novo. This is the only molecular study conducted in the Russian population affected by HED and represents the largest HED cohort published to date globally. Our findings significantly expand the mutational spectrum of HED-causing genes and will aid in choosing an initial diagnostic approach for HED patients. Further studies using whole-genome sequencing (WGS) will help to identify other contributory genes in the remaining uncharacterized Russian patients with HED. The online version contains supplementary material available at 10.1186/s13023-026-04211-x.
Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.
Hypohidrotic ectodermal dysplasias are a genetic condition affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands, resulting from variations in the EDA, EDAR, EDARADD, and WNT10A genes. This study examined 32 cases from 25 unrelated families from Türkiye, identifying seven novel variants in the EDA, EDAR, and WNT10A genes. The distribution of genetic alterations across the cohort revealed that 44% of the families (11/25) harbored variants in EDA, whereas EDAR and WNT10A variants were identified in 32% (8/25) and 24% (6/25) of families, respectively. Clinical evaluation revealed the characteristic hypohidrotic ectodermal dysplasia triad of hypotrichosis, hypodontia, and hypohidrosis was observed in 87.5% of cases, along with other symptoms such as dry skin, atopic dermatitis, and developmental delays. All cases presented with hair, eyebrow, and eyelash abnormalities, ranging in severity from subtle thinning to marked hypotrichosis. Among the cohort, one case exhibited severe atopic dermatitis as the predominant symptom. Targeted next-generation sequencing and clinical exome sequencing were employed to determine the genetic basis of the condition, emphasizing the importance of early diagnosis for targeted interventions. This study expands the genetic and phenotypic spectrum of hypohidrotic ectodermal dysplasia, presenting a comprehensive overview of molecular findings and genotype-phenotype correlations in the population from the Turkish population.
Conical Incisors as the First Manifestation of Hypohidrotic Ectodermal Dysplasia.
[Use of autologous free parietal periosteum in the treatment of patients with anhidrotic (hypohidrotic) ectodermal dysplasia].
To evaluate the effectiveness of autologous free parietal periosteum combined with cranial vault bone autografts for alveolar ridge reconstruction in patients with ectodermal dysplasia. Prospective single-center study; 17 patients aged 17-40 years. Two groups were formed by membrane type: autologous free periosteum (n=6) and collagen membrane (n=11). Bone augmentation was performed with fixation of parietal bone autografts; the spaces between blocks were filled with a mixture of autogenous bone chips and xenograft (70:30). Changes in bone volume were calculated relative to the total volume of the maxilla and mandible using manual slice-by-slice segmentation of MSCT scans with MPR correction (Amira 5.4.5) preoperatively, at 2-3 days, and at 6 months. Graft resorption was assessed at 6 months. Dental implant stability was measured immediately after placement and at 6 months. Statistical processing was performed in IBM SPSS. Both groups demonstrated an increase in bone volume that persisted at 6 months; no between-group differences in volume were found. Graft resorption was lower with autologous free periosteum than with a collagen membrane: maxilla 18.48±1.27% vs 23.56±4.83% (p=0.025); mandible 26.22±1.74% vs 38.68±4.68% (p<0.001). Six-month implant stability was higher in the periosteum group (ISQ 86.83±2.04 vs 82.45±1.69; p<0.001). No complications of bone grafting or dental implantation were recorded. Using autologous free parietal periosteum as a barrier membrane in cranial vault autograft reconstruction provides better graft volume preservation, lower resorption, and higher dental implant stability compared with a collagen membrane. Оценка эффективности аутологичной свободной теменной надкостницы в сочетании с костными аутотрансплантатами свода черепа для реконструкции альвеолярного гребня у пациентов с эктодермальной дисплазией. В проспективное одноцентровое исследование включены 17 пациентов 17—40 лет. Сформированы 2 группы по типу мембраны: аутологичная свободная надкостница (n=6) и коллагеновая мембрана (n=11). Выполняли костную аугментацию с фиксацией теменных аутотрансплантатов; пространство между костными блоками заполняли смесью аутокостной стружки и ксеноматериала (70:30). Изменение объема кости рассчитывали по отношению к общему объему верхней и нижней челюсти методом ручной послойной сегментации по данным мультиспиральной компьютерной томографии с MPR-коррекцией (Amira 5.4.5) до операции, на 2—3-и сутки и через 6 мес. Степень резорбции оценивали через 6 мес после операции, стабильность дентальных имплантатов — после их установки и через 6 мес. В обеих группах получен прирост объема кости, сохранявшийся через 6 мес; межгрупповых различий по объему не выявлено. Резорбция трансплантата при использовании свободной аутологичной надкостницы была ниже, чем при использовании коллагеновой мембраны: на верхней челюсти 18,48±1,27% против 23,56±4,83% (p=0,025); на нижней — 26,22±1,74% против 38,68±4,68% (p<0,001). Через 6 мес стабильность имплантатов была выше в группе надкостницы (ISQ 86,83±2,04 против 82,45±1,69; p<0,001). Осложнения костнопластической операции и дентальной имплантации отсутствовали. Применение свободной аутологичной теменной надкостницы в качестве барьерной мембраны при костной пластике с использованием аутотрансплантатов свода черепа обеспечивает более выраженное сохранение объема трансплантата, меньшую резорбцию и более высокую стабильность дентальных имплантатов по сравнению с коллагеновой мембраной.
Publicações recentes
[Use of autologous free parietal periosteum in the treatment of patients with anhidrotic (hypohidrotic) ectodermal dysplasia].
Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure.
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Transcriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.
X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab.
📚 EuropePMC527 artigos no totalmostrando 195
[Use of autologous free parietal periosteum in the treatment of patients with anhidrotic (hypohidrotic) ectodermal dysplasia].
StomatologiiaHealth-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure.
Orphanet journal of rare diseasesMutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Orphanet journal of rare diseasesTranscriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.
Frontiers in cell and developmental biologyX-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab.
Acta dermato-venereologicaPrenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation.
GenesA case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights.
BMC medical genomicsDental Rehabilitation with Implants in a Pediatric Patient with Ectodermal Dysplasia.
Journal of dentistry for children (Chicago, Ill.)Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.
European journal of dermatology : EJDHypohidrotic ectodermal dysplasia: association between EDA mutations and hypotrichosis - a case series.
European journal of dermatology : EJDProsthetic and implant rehabilitation in hypohidrotic ectodermal dysplasia: A 13-year follow-up.
The Journal of prosthetic dentistryEctodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.
European journal of pediatricsConical Incisors as the First Manifestation of Hypohidrotic Ectodermal Dysplasia.
The Journal of pediatricsPrenatal Ultrasound Findings of X-Linked Hypohidrotic Ectodermal Dysplasia: A Case Report.
Journal of clinical ultrasound : JCUA novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
BMC pregnancy and childbirthHypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.
Clinical geneticsNasal Myiasis in a Female with Christ-Siemens-Touraine Syndrome: A Case Report.
JNMA; journal of the Nepal Medical AssociationApplication of a Conservative Prosthodontic Approach in the Rehabilitation of a 10-Year-Old Child with Hypohidrotic Ectodermal Dysplasia.
Healthcare (Basel, Switzerland)Dental Management of Ectodermal Dysplasia: A Report of Two Clinical Cases.
CureusX-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease.
Molecular genetics and metabolism reportsComplete-arch implant rehabilitation and adjunctive orthognathic surgery of a patient with hypohidrotic ectodermal dysplasia utilizing a digital workflow: A clinical report.
Journal of prosthodontics : official journal of the American College of ProsthodontistsAttitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.
Orphanet journal of rare diseasesA completely digital workflow for a maxillary tooth-supported complete overdenture and mandibular telescopic denture to manage the treatment of a patient with hypohidrotic ectodermal dysplasia.
The Journal of prosthetic dentistryAn Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia.
CureusHypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.
European journal of medical genetics[Hypohidrotic ectodermal dysplasia with EDA gene variant in 2 children].
Zhonghua er ke za zhi = Chinese journal of pediatricsMasticatory function in growing individuals with hypohidrotic ectodermal dysplasia: A longitudinal study.
International journal of paediatric dentistryFacial Sebaceous Hyperplasia in an Adolescent With Hypohidrotic Ectodermal Dysplasia.
Pediatric dermatologyPrevalence rates for ectodermal dysplasia syndromes.
American journal of medical genetics. Part AHypohidrotic ectodermal dysplasia in a family: expanding spectrum of LEF1-related disorders.
Clinical and experimental dermatologyEDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.
GenesX-linked hypohidrotic ectodermal dysplasia with a deletion in exon 2 of the EDA gene: a case report and literature review.
European journal of dermatology : EJDA Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.
Clinical, cosmetic and investigational dermatologyImproving the Quality of Life in Patients With Hypohidrotic Ectodermal Dysplasia: A Holistic Approach.
CureusNovel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.
Italian journal of pediatricsA rare case of congenital insensitivity to pain with anhidrosis.
Paediatrics and international child healthPrenatal sonographic evidence of hypohidrotic ectodermal dysplasia and postnatal genetic testing of a family line of child.
Quantitative imaging in medicine and surgeryHypohidrotic Ectodermal Dysplasia: Classical Clinical Features.
Indian pediatricsCraniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.
Pediatric researchEight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.
Oral diseasesCompound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.
BMC oral healthA Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle.
GenesA missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses.
PloS oneTranscription factor FoxO1 regulates myoepithelial cell diversity and growth.
Scientific reportsRare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1.
CureusUnderstanding the effects of per- and polyfluoroalkyl substances on early skin development: Role of ciliogenesis inhibition and altered microtubule dynamics.
The Science of the total environmentThe oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant.
HeliyonOligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.
Dentistry journalIdentification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.
Oral diseasesX-linked genodermatoses from diagnosis to tailored therapy.
La Clinica terapeuticaHypohidrotic Ectodermal Dysplasia Milia Treatment With Fractional Carbon Dioxide Laser and Laser-Assisted Drug Delivery of Triamcinolone.
Journal of drugs in dermatology : JDDHypohidrotic Ectodermal Dysplasia: A Case Report.
CureusRehabilitation with implant-supported overdentures in preteens patients with ectodermal dysplasia: A cohort study.
Clinical implant dentistry and related research[A novel ectodysplasin-A receptor gene variant identified by whole-exome sequencing with hypohidrotic ectodermal dysplasia in a Chinese family].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyClinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Advances in experimental medicine and biologyX-Linked Hypohidrotic Ectodermal Dysplasia (XLHED): A Case Report and Overview of the Diagnosis and Multidisciplinary Modality Treatments.
CureusEDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes.
Cell & bioscienceMolecular Basis of Hereditary Hair Diseases.
The Keio journal of medicineNovel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela.
Clinical and experimental dermatologyUnexplained Fever in Infancy: Report of a Rare Case of Hypohidrotic Ectodermal Dysplasia in an Infant.
CureusA Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.
International journal of molecular sciencesHypohidrotic ectodermal dysplasia: A rare entity.
Journal of oral and maxillofacial pathology : JOMFPThe EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective.
Frontiers in geneticsA novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.
Archives of oral biologyA call for implementing augmented intelligence in pediatric dermatology.
Pediatric dermatologyNext generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.
Italian journal of dermatology and venereologyEctodysplasin Signaling through XEDAR Is Required for Mammary Gland Morphogenesis.
The Journal of investigative dermatologyStructural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Nature communicationsProtocol 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.
GenesCo-Occurrence of Hypohidrotic Ectodermal Dysplasia and Food Protein-Induced Enterocolitis Syndrome: A Report of a New Ectodysplasin A Variant.
Skin appendage disordersAppearance Says It All; A Rare Case Of Hypohidrotic Ectodermal Dysplasia.
Journal of Ayub Medical College, Abbottabad : JAMCA novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.
Molecular genetics & genomic medicineCongenital Nail Disorders among Children with Suspected Ectodermal Dysplasias.
GenesEctodysplasin A1 Deficiency Leads to Osteopetrosis-like Changes in Bones of the Skull Associated with Diminished Osteoclastic Activity.
International journal of molecular sciencesRare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern.
Diagnostics (Basel, Switzerland)Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
The Journal of dermatologyOrthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.
Orphanet journal of rare diseasesHypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines.
JAAD case reportsEctodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders.
Frontiers in geneticsExtended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia.
Children (Basel, Switzerland)A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia.
Acta veterinaria ScandinavicaIdentified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.
Oral diseasesEctodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases.
International journal of molecular sciencesFunctional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.
Frontiers in geneticsCritical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis.
International journal of molecular sciencesThree Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics.
Frontiers in geneticsClinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children.
Indian journal of dermatologyReproductive decision-making by women with X-linked hypohidrotic ectodermal dysplasia.
Journal of the European Academy of Dermatology and Venereology : JEADVA Rare Case of Hypohidrotic Ectodermal Dysplasia in a Seven-Year-Old Child.
CureusHypohidrotic ectodermal dysplasia: A case report with review and latest updates.
Journal of oral and maxillofacial pathology : JOMFP[Whole exome sequencing and analysis of hypohidrotic ectodermal dysplasia patients].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyThe EDA-deficient mouse has Zymbal's gland hypoplasia and acute otitis externa.
Disease models & mechanismsPrenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia.
Advances in experimental medicine and biologyDimensional Changes in Dental Arches after Complete Dentures Rehabilitation of a Patient with Hypohidrotic Ectodermal Dysplasia: A Case Report with 18-Year Follow-Up.
The Journal of clinical pediatric dentistryRehabilitation of ectodermal dysplasia patient with a telescopic denture in the maxilla and mandibular implant assisted overdenture: A case report.
Clinical case reportsA Hybrid Oral Rehabilitation of Hypohidrotic Ectodermal Dysplasia: A Conservative Approach with Three-Year Follow-Up.
Case reports in dentistryAn epidemiological survey of anhidrotic/hypohidrotic ectodermal dysplasia in Japan: High prevalence of allergic diseases.
The Journal of dermatologyEctodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
American journal of medical genetics. Part AUnderstanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach.
Journal of cellular biochemistrySquamous cell carcinoma and keratoacanthoma on the neck in a patient with hypohidrotic ectodermal dysplasia.
European journal of dermatology : EJDA novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report.
Molecular genetics and metabolism reportsTwo novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.
Molecular genetics & genomic medicineFunctional Analysis of Ectodysplasin-A Mutations in X-Linked Nonsyndromic Hypodontia and Possible Involvement of X-Chromosome Inactivation.
Stem cells internationalIncreased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia.
Orphanet journal of rare diseasesARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
Journal of medical geneticsCharacterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
The Journal of dermatologyLate-onset eccrine syringofibroadenoma of the feet in a patient with hypohidrotic ectodermal dysplasia.
The Australasian journal of dermatology[Genetic testing and genotype-phenotype analysis for a child with X-linked hypohidrotic ectodermal dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFirst 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?
Italian journal of pediatricsGenetic analysis of a possible case of canine X-linked ectodermal dysplasia.
The Journal of small animal practicePrenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case.
Journal of clinical ultrasound : JCU[Clinical and genetic analysis of a child with X-linked hypohidrotic ectodermal dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsX-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA.
Animals : an open access journal from MDPI[Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsUnexplained oral and extremity ulcerations in an infant.
JAAD case reportsNo evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.
Orphanet journal of rare diseases[Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesComprehensive Management of Ectodermal Dysplasia with Interceptive Orthodontics in a Young Boy Who Was Bullied at School.
Case reports in dentistryComplete Phenotypic Expression of Hypohidrotic Ectodermal Dysplasia in a Female Patient.
Indian journal of dermatologyExome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyA novel c.916C>A EDA gene pathogenic variant in a boy with X-linked hypohidrotic ectodermal dysplasia.
Clinical and experimental dermatologyMissense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.
Molecular genetics & genomic medicineHypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib.
Acta dermato-venereologicaMethods for the Administration of EDAR Pathway Modulators in Mice.
Methods in molecular biology (Clifton, N.J.)Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia.
The Journal of dermatology[Prenatal diagnosis of a fetus with X-linked hypohidrotic ectodermal dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsLrp6 Dynamic Expression in Tooth Development and Mutations in Oligodontia.
Journal of dental researchClinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature.
Pediatric dermatologyComparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
Human mutationFacial Morphological Changes Following Denture Treatment in Children with Hypohidrotic Ectodermal Dysplasia.
Pediatric dentistryHomozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
European journal of dermatology : EJDX-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.
Boletin medico del Hospital Infantil de MexicoA case of body dysmorphic disorder in an adolescent with hypohidrotic ectodermal dysplasia.
Pediatric dermatologyA Hypohidrotic Ectodermal Dysplasia Arising From a New Mutation in a Yorkshire Terrier Dog.
Topics in companion animal medicineProsthodontic Management of a Pediatric Patient with Christ-Siemens-Touraine Syndrome: A Case Report.
International journal of clinical pediatric dentistryOveractivation of the NF-κB pathway impairs molar enamel formation.
Oral diseasesA first case report of hypohidrotic ectodermal dysplasia from Oman.
Clinical case reportsSafety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.
British journal of clinical pharmacologyA novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia.
MedicinePathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.
Frontiers in geneticsLEF1 haploinsufficiency causes ectodermal dysplasia.
Clinical geneticsThe characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.
American journal of medical genetics. Part AHypohidrotic ectodermal dysplasia with autosomal recessive inheritance pattern: Report of a rare and unusual case with a brief review of literature.
Journal of oral and maxillofacial pathology : JOMFPNatural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.
Orphanet journal of rare diseasesEDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Orphanet journal of rare diseasesProsthetic rehabilitation with fixed prosthesis of a 5-year-old child with Hypohidrotic Ectodermal Dysplasia and Oligodontia: a case report.
Journal of medical case reportsDeleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.
International journal of molecular sciencesOral Rehabilitation of a Child with Hypohidrotic Ectodermal Dysplasia.
Journal of dentistry for children (Chicago, Ill.)Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia.
BMC genomicsAn unusual manifestation of X-linked hypohidrotic ectodermal dysplasia with palmoplantar keratoderma.
Clinical and experimental dermatologyA novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia.
Cellular & molecular biology lettersA novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family.
Archives of oral biologyProsthetic rehabilitation of a child with X-linked hypohidrotic ectodermal dysplasia: a case report and 12-month follow-up.
General dentistryA recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.
The journal of gene medicineX-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.
Journal of the European Academy of Dermatology and Venereology : JEADVFunctional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia.
The Journal of dermatologyNovel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.
The Journal of dermatologyNovel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.
Cytogenetic and genome researchX-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities.
Topics in companion animal medicineRole of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia.
Disease models & mechanismsPrenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model.
The Journal of pharmacology and experimental therapeuticsHypohydrotic Ectodermal Dysplasia in an Indian Family.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPChrist-Siemens-Touraine Syndrome: A Rare Case Report.
Journal of pharmacy & bioallied sciencesMorphology of the Meibomian gland evaluated using meibography in patients with hypohidrotic ectodermal dysplasia.
Archivos de la Sociedad Espanola de OftalmologiaOral Care Program for Successful Long-Term Full Mouth Habilitation of Patients with Hypohidrotic Ectodermal Dysplasia.
Case reports in dentistryVariants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia.
Clinical geneticsInterceptive treatment in ectodermal dysplasia using an innovative orthodontic/prosthetic modular appliance. A case report with 10- year follow-up.
European journal of paediatric dentistryHypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma.
Journal of glaucomaConservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.
BMC medical geneticsA de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia.
G3 (Bethesda, Md.)Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.
Prenatal diagnosisA rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation.
Minerva pediatricaDental anomalies and lesions in Eastern Atlantic harbor seals, Phoca vitulina vitulina (Carnivora, Phocidae), from the German North Sea.
PloS oneA frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia.
Animal geneticsClinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study.
Clinical geneticsDental Management and Prosthetic Rehabilitation of Patients Suffering from Hypohidrotic Ectodermal Dysplasia: A Report of Two Case Histories.
The International journal of prosthodonticsUpper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryTwo Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals.
The Journal of dermatologyMutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia.
Genetic testing and molecular biomarkersSequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.
Congenital anomaliesCombined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la NutricionGenetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation.
Journal of clinical laboratory analysisA case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates.
Journal of family medicine and primary careDefective NaCl Reabsorption in Salivary Glands of Eda-Null X-LHED Mice.
Journal of dental researchTwo cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene.
The Journal of dermatologyHypohidrotic ectodermal dysplasia: clinical and molecular review.
International journal of dermatologyPrenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
The New England journal of medicineProsthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review.
Journal of oral rehabilitationA novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.
Oral diseasesHypohidrotic ectodermal dysplasia with strabismus.
The Journal of dermatologyTwo EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia.
Journal of the European Academy of Dermatology and Venereology : JEADVLet-7b regulates alpaca hair growth by downregulating ectodysplasin A.
Molecular medicine reportsA microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.
Nature medicineFirst report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth.
Clinica chimica acta; international journal of clinical chemistryNovel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure.
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
- Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.
- Conical Incisors as the First Manifestation of Hypohidrotic Ectodermal Dysplasia.
- [Use of autologous free parietal periosteum in the treatment of patients with anhidrotic (hypohidrotic) ectodermal dysplasia].
- Transcriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.
- X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:238468(Orphanet)
- MONDO:0016535(MONDO)
- GARD:76(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1077955(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
