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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"name": "Quels examens sont nécessaires pour le diagnostic ?",
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"name": "Y a-t-il des problèmes de peau associés ?",
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"name": "Les personnes atteintes ont-elles des problèmes de chaleur ?",
"position": 9,
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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 ?",
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"position": 11,
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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,
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"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": {
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"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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"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 ?",
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"name": "Y a-t-il des traitements pour améliorer la sudation ?",
"position": 18,
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"name": "Les traitements sont-ils personnalisés ?",
"position": 19,
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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 aimed to critically review the decision-making (DM) processes for new vaccines introduction in Latin America's Expanded Program on Immunization (EPIs) and role of cost-effectiveness analyse...
An online survey was conducted between August and December 2019 to Latin America and the Caribbean (LAC) EPI managers, participants of the National Immunization Technical Advisory Group (NITAG). Infor...
A total of 26 EPI managers and stakeholders participated in the survey from 14 LAC countries. Respondents worked at the Ministry of Health and the Pan American Health Organization. Most recent vaccine...
DM of vaccine introduction in LAC is reported by EPI managers as a process of discussion with participation of several actors where economic rationalities had a high role in the decision. It is necess...
Broad benefits of vaccination programs are well acknowledged but difficult to measure, especially when considering all vaccines included in a National Immunization Program (NIP). The aim was to conduc...
The world continues to undergo a profound demographic shift toward increasing longevity -but quality of life is not improving correspondingly. At the same time, countries are taking stock of the negat...
It may seem surprising that the Editorial Board of...
Introducing new vaccines within national immunization programs requires careful consideration of disease- and vaccine-related issues as well as of the strength of the program and the affected health s...
This study aimed to develop a consensus framework for economic evaluations of vaccines as a national guideline in China. Some unique and important aspects were particularly emphasized. Nineteen Chines...
In Japan, immunization is regulated by the Immunization Law, enacted shortly after World War II ended. It has been subsequently revised in response to social changes; however, after public health cond...
To analyze the reliability of records held on the National Immunization Program Information System (SI-PNI) in a subsample of children included in the national vaccination coverage survey in Brazilian...
This was a study of agreement between data recorded on vaccination cards (doses and dates) and on the SI-PNI for 4050 children with full coverage at 24 months....
Data on 3587 children were held on the SI-PNI, with losses of 11% (95%CI: 10;12). Total agreement between doses and dates in the two sources was 86% (95%CI: 86;87), however taking each dose and vaccin...
Part of the information was not recorded, but the discrepancy can be considered small. Nonetheless, underrecording of doses and children can compromise vaccination coverage estimates, altering the num...
Subsample of 4,050 children, among those completing the full schedule at 24 months studied in the national survey, 11% had not been recorded on the SI-PNI, 32% had unrecorded doses (doses or dates) an...
Recognizing the difficulties faced by the SI-PNI and the discrepancies between sources is essential for adopting initiatives to improve data quality, so as to avoid inaccurate estimates of childhood v...
This study is expected to contribute to improving the quality of records and the usability of data for monitoring vaccination coverage of the immunization program from the local to the national level....
We evaluated the public health impact and return on investment of Belgium's pediatric immunization program (PIP) from both healthcare-sector and societal perspectives....
We developed a decision analytic model for 6 vaccines routinely administered in Belgium for children aged 0-10 years: DTaP-IPV-HepB-Hib, DTaP-IPV, MMR, PCV, rotavirus, and meningococcal type C. We use...
Across all 11 pathogens, we estimated that the PIP prevented 226,000 cases of infections and 200 deaths, as well as the loss of 7,000 life-years and 8,000 quality-adjusted life-years over the lifetime...
Belgium's PIP, which previously had not been systematically assessed, provides large-scale prevention of disease-related morbidity and premature mortality, and is associated with net savings to health...
In Malaysia, the HPV immunization program has been introduced since 2010 as part of the national immunization plan for female students aged 13 years old. It was a very successful immunization program ...