questionsmedicales.fr
Maladies de la peau et du tissu conjonctif
Maladies de la peau
Maladies génétiques de la peau
Dysplasie ectodermique
Dysplasie ectodermique : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Dysplasie ectodermique
Diagnostic génétique
Dysplasie ectodermique
Imagerie médicale
Biopsie
Dysplasie ectodermique
Antécédents familiaux
Dysplasie ectodermique
Dysplasie ectodermique
Diagnostic prénatal
Symptômes
5
Dysplasie ectodermique
Symptômes
Dysplasie ectodermique
Anomalies dentaires
Dysplasie ectodermique
Anomalies cutanées
Dysplasie ectodermique
Thermorégulation
Dysplasie ectodermique
Variabilité phénotypique
Prévention
5
Dysplasie ectodermique
Prévention
Conseil génétique
Dysplasie ectodermique
Tests génétiques
Dysplasie ectodermique
Dysplasie ectodermique
Grossesse
Dysplasie ectodermique
Suivi médical
Traitements
5
Dysplasie ectodermique
Traitement
Chirurgie
Dysplasie ectodermique
Dysplasie ectodermique
Gestion de la chaleur
Dysplasie ectodermique
Médecine personnalisée
Dysplasie ectodermique
Qualité de vie
Complications
5
Dysplasie ectodermique
Complications
Infections cutanées
Dysplasie ectodermique
Dysplasie ectodermique
Santé mentale
Dysplasie ectodermique
Douleur dentaire
Dysplasie ectodermique
Coup de chaleur
Facteurs de risque
5
Dysplasie ectodermique
Facteurs de risque
Consanguinité
Dysplasie ectodermique
Dysplasie ectodermique
Sexe
Dysplasie ectodermique
Facteurs environnementaux
Mutations génétiques
Dysplasie ectodermique
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"text": "Le diagnostic repose sur l'examen clinique et des tests génétiques pour identifier les mutations."
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"@type": "Question",
"name": "Quels examens sont nécessaires pour le diagnostic ?",
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"name": "La dysplasie ectodermique affecte-t-elle la dentition ?",
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"name": "Y a-t-il des problèmes de peau associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cutanées comme une peau sèche ou des éruptions peuvent survenir."
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"name": "Les personnes atteintes ont-elles des problèmes de chaleur ?",
"position": 9,
"acceptedAnswer": {
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"text": "Oui, la réduction de la sudation peut entraîner des difficultés à réguler la température corporelle."
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"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir la dysplasie ectodermique ?",
"position": 11,
"acceptedAnswer": {
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"text": "Étant une maladie génétique, il n'existe pas de méthode de prévention connue."
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"@type": "Question",
"name": "Le conseil génétique est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le conseil génétique peut aider les familles à comprendre les risques de transmission."
}
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"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests peuvent identifier les porteurs de mutations et informer les décisions familiales."
}
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"@type": "Question",
"name": "Les femmes enceintes doivent-elles être informées ?",
"position": 14,
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"text": "Oui, les femmes enceintes avec des antécédents familiaux devraient être informées des risques."
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"name": "Y a-t-il des mesures préventives pour les enfants ?",
"position": 15,
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"text": "Bien qu'il n'y ait pas de prévention, un suivi médical régulier est conseillé."
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"name": "La chirurgie est-elle une option de traitement ?",
"position": 17,
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"text": "Oui, des interventions chirurgicales peuvent être nécessaires pour corriger des anomalies dentaires."
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"name": "Y a-t-il des traitements pour améliorer la sudation ?",
"position": 18,
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"@type": "Answer",
"text": "Des traitements comme l'hydratation et des vêtements adaptés peuvent aider à gérer la chaleur."
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"name": "Les traitements sont-ils personnalisés ?",
"position": 19,
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"text": "Oui, les traitements sont souvent adaptés aux besoins spécifiques de chaque patient."
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"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les problèmes d'apparence peuvent entraîner des troubles de l'estime de soi et de l'anxiété."
}
},
{
"@type": "Question",
"name": "Les problèmes dentaires peuvent-ils causer des douleurs ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les anomalies dentaires peuvent entraîner des douleurs et des difficultés à mastiquer."
}
},
{
"@type": "Question",
"name": "Les troubles thermiques peuvent-ils être graves ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles thermiques peuvent entraîner des coups de chaleur dans des conditions extrêmes."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque de la dysplasie ectodermique ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques spécifiques."
}
},
{
"@type": "Question",
"name": "La consanguinité augmente-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la consanguinité peut augmenter la probabilité de transmission de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Les hommes sont-ils plus touchés que les femmes ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines formes de dysplasie ectodermique sont plus fréquentes chez les hommes."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la dysplasie ectodermique est principalement causée par des facteurs génétiques."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles héréditaires ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la plupart des cas de dysplasie ectodermique sont héréditaires et suivent un mode de transmission spécifique."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 08/04/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Filière Maladies Rares Dermatologiques (FIMARAD), ERN-Skin, Hôpital Universitaire Necker- Enfants Malades, Assistance Publique - Hôpitaux de Paris-Centre (AP-HP5), Paris, France. smail.hadj@inserm.fr.
Publications dans "Dysplasie ectodermique" :
4 publications dans cette catégorie
Affiliations :
Center for Ectodermal Dysplasias Erlangen (CEDER), University Hospital Erlangen, 91054 Erlangen, Germany.
Department of Pediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Publications dans "Dysplasie ectodermique" :
3 publications dans cette catégorie
Affiliations :
National Foundation for Ectodermal Dysplasias, Fairview Heights, Illinois, USA.
Publications dans "Dysplasie ectodermique" :
3 publications dans cette catégorie
Publications dans "Dysplasie ectodermique" :
3 publications dans cette catégorie
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Filière Maladies Rares Dermatologiques (FIMARAD), ERN-Skin, Hôpital Universitaire Necker- Enfants Malades, Assistance Publique - Hôpitaux de Paris-Centre (AP-HP5), Paris, France.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Department of Medicine, University of Missouri School of Medicine, Columbia, Missouri, USA.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
National Foundation for Ectodermal Dysplasias, Fairview Heights, Illinois, USA.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, University of Missouri School of Medicine, Columbia, Missouri, USA.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Center for Oral Health in Rare Diseases, Department of Maxillofacial Surgery, Aarhus University Hospital, Aarhus, Denmark.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Unit of Orofacial Genetics, 1st Department of Pediatrics, School of Medicine, National Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece. cyapi@med.uoa.gr.
Laboratory of Molecular Genetics, Cephalogenetics Center, Athens, Greece. cyapi@med.uoa.gr.
University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Choremion Laboratory, "Aghia Sophia" Children's Hospital, Athens, Greece. cyapi@med.uoa.gr.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Unit of Orofacial Genetics, 1st Department of Pediatrics, School of Medicine, National Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
Laboratory of Molecular Genetics, Cephalogenetics Center, Athens, Greece.
University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Choremion Laboratory, "Aghia Sophia" Children's Hospital, Athens, Greece.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Center for Ectodermal Dysplasias Erlangen (CEDER), University Hospital Erlangen, 91054 Erlangen, Germany.
Department of Pediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Center for Ectodermal Dysplasias Erlangen (CEDER), University Hospital Erlangen, 91054 Erlangen, Germany.
Department of Pediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Shanghai Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology and Shanghai Research Institute of Stomatology. Shanghai 200011, China. E-mail:zhaokaidentist@126.com.
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Publications dans "Dysplasie ectodermique" :
2 publications dans cette catégorie
Affiliations :
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
Publications dans "Dysplasie ectodermique" :
This study was designed to estimate the burden of blindness and vision impairment in school children, and to determine the proportion of students meeting the visual acuity (VA) demand for their classr...
Dynamic visual acuity (DVA) is crucial for the perception of moving objects. While traditional DVA assessment tools predominantly focus on horizontal movements, the evaluation of vertical DVA remains ...
To investigate the early visual acuity (VA) changes that occur after trabeculectomy and their reversal with recovery....
Two hundred ninety-two eyes of 292 patients after initial trabeculectomy as a standalone procedure fulfilling the following conditions were included: 1) patients with a postoperative follow-up of at l...
The mean IOPs (mmHg) after trabeculectomy were significantly lower than preoperatively during the entire period (P < 0.0001). The mean corrected VA for all patients was 0.06 ± 0.17, 0.24 ± 0.38, 0.19 ...
The frequency of serious vision loss was 4.45% for two or more levels of vision loss, and early postoperative VA changes after trabeculectomy may not be reversed even 3 months later. VA loss is influe...
Visual perception is limited by spatial resolution, the ability to discriminate fine details. Spatial resolution not only declines with eccentricity but also differs for polar angle locations around t...
Standard-of-care assessment for children with amblyopia includes measuring amblyopic eye best-corrected visual acuity (AE BCVA) with the fellow eye occluded. By definition, this abolishes the interocu...
Cross-sectional study....
Dichoptic and monocular AE BCVA of children aged 6-12 years (42 with amblyopia, 24 with recovered normal AE BCVA, 30 control) were measured. Stereoacuity, suppression, eye-hand coordination, and readi...
Overall, 81% of amblyopic children had worse dichoptic than monocular AE BCVA (mean difference=0.15±0.11 logMAR; P < .0001), and 71% of children with recovered normal AE BCVA had worse dichoptic than ...
Dichoptic AE BCVA deficits were worse than monocular AE BCVA deficits and were associated with reduced stereoacuity and suppression, consistent with the hypothesis that binocular dysfunction plays a r...
Evaluate the differences between clinical visual acuity (VA) as recorded in medical records and electronic Early Treatment Diabetic Retinopathy Study (eETDRS) protocol VA measurements and factors affe...
Retrospective chart review....
Study and fellow eyes of participants enrolled in DRCR Retina Network Protocols AC and AE (diabetic macular edema), and W (nonproliferative diabetic retinopathy) with clinical VA recorded within 3 mon...
Differences and their association with patient and ocular factors were evaluated using linear mixed models with random effects for correlations within sites and participants....
Difference between VA letter scores measured by eETDRS during a study visit versus measured by Snellen during a regular clinical visit (Snellen fraction converted to eETDRS)....
Data from 1016 eyes (511 participants) across 74 sites were analyzed. The mean VA measurements were 68.6 letters (Snellen equivalent 20/50) at the clinical visit and 76.3 letters (Snellen equivalent 2...
On average, clinical Snellen VA is 1 to 2 lines worse than eETDRS protocol refraction and VA testing, which may partly explain why clinical practice does not always replicate clinical trial results. E...
Proprietary or commercial disclosure may be found after the references....
Visual acuity declines with age, and disease-related visual acuity changes vary. We evaluated factors affecting visual acuity and age-related visual acuity in diseases associated with reduced visual a...
Lighting conditions significantly influence visual acuity (VA), visual function, and quality of life. Previous research highlighted a correlation between luminance and VA but left a gap in understandi...
This study aimed to investigate the influence of both central and surrounding luminance on VA through distance VA measurements....
A dual-component lighting system was utilized, comprising a self-illuminated ETDRS chart and a skyLED system for consistent surrounding illumination. Two experimental setups were conducted: the first ...
Sixty-six participants with refractive errors between 0.0 D and -2.75 D were tested under various lighting conditions. Both uncorrected refractive error (URE) and corrected refractive error (CRE) eyes...
Paired t-tests were used to evaluate the statistical significance of differences in VA scores....
Experiment 1 demonstrated a significant increase in VA scores, with mean improvements of -0.120 LogMAR for URE eyes and -0.073 LogMAR for CRE eyes as chart luminance increased from 26 cd/m² to 153 cd/...
This study emphasizes the significant impact of both central and peripheral luminance on VA. The introduction of the skyLED lighting system underlines the importance of optimal lighting for visual per...
Silicone oil is an established intraocular surgical aid, which enables the treatment of the most complex starting situations but no other alternative has been found; however, the available data indica...
Human sensitivity to visual input often scales with the magnitude of evoked responses in the brain. Here, we demonstrate an exception. We record electroencephalography (EEG) while people attempt to re...