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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"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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"@type": "Question",
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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,
"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": {
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"text": "Oui, les tests peuvent identifier les porteurs de mutations et informer les décisions familiales."
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"name": "Les femmes enceintes doivent-elles être informées ?",
"position": 14,
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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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"position": 17,
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"@type": "Question",
"name": "Y a-t-il des traitements pour améliorer la sudation ?",
"position": 18,
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"text": "Des traitements comme l'hydratation et des vêtements adaptés peuvent aider à gérer la chaleur."
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"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" :
We review literature related to the assessment and identification of Specific Learning Disabilities (SLD) and Intellectual Disabilities (ID). SLD and ID are the only two disorders requiring psychometr...
Many adolescents with immunodeficiency are diagnosed with a comorbid learning disability. The process of transition from paediatric to adult healthcare for these individuals occurs with a range of add...
Learning disabilities (LDs) are a group of neurodevelopmental deficits that negatively affect the acquisition, organization, retention, comprehension, or application of age appropriate knowledge. Pers...
Specific learning disorders (SLD) persist into adulthood. Persons with SLD frequently experience emotional and social difficulties. Following qualitative descriptions of individuals with SLD who exper...
Nursing students express fears and anxieties about caring for people with intellectual learning disabilities (ILDs). Educational storytelling interventions may help overcome these concerns and improve...
StoryAid was used and developed in the Heritage-2Health (H2H) Virtual Art and Drama Project. Eight online sessions followed a story about differences and connections. Two trained facilitators and thre...
Themes included relating to the story and characters, participating in the storytelling process, relating to other participants in the storytelling, and relating learning to clinical contexts and prof...
The partnership of StoryAid and H2H created safe spaces for nursing students to engage, challenge assumptions, and develop relational skills....
We explored the accuracy of using the learning disability screening questionnaire (LDSQ) in services for people experiencing homelessness in the United Kingdom....
We examined the concordance between the LDSQ outcomes and assessments of intellectual disability. Seventy adults experiencing homelessness completed the LDSQ. Staff completed the LDSQ and a measure of...
Sensitivity and specificity for the LDSQ when completed by staff was 83% and 96% respectively and 50% and 92% when completed by the individual. Seven people had intellectual and adaptive functioning i...
The results suggest that the LDSQ would be an appropriate and beneficial screening tool to use within services for people experiencing homelessness. More accurate results would be likely if it were co...
The processing of Arabic digits is a core difficulty of children suffering from mathematical learning disability (MLD). Dominant accounts assume a semantic impairment affecting either the magnitude re...
This cross-sectional study aims to determine the feeding problems and nutritional status of children diagnosed with specific learning disability (SLD), which is one of the neurodevelopmental disorders...
It is estimated that nearly 5%-10% of Indian schoolchildren have hidden problems, with about 80%-85% of them having dyslexia. Failing to diagnose and address learning disabilities on time can lead to ...
A cross-sectional study was conducted in 10 randomly selected English, Hindi, Marathi, and Urdu medium schools under Brihanmumbai Municipal Corporation from June 2018 to December 2019. The study parti...
From the ten selected schools, 150 teachers were interviewed. The knowledge regarding LD was poor, with only 26.67% of the teachers expressing the inability of the child to learn in only one particula...
LD criteria, screening, provision, and referral should have been better understood by schoolteachers. Most of their expertise came from teacher training programs. Teachers closely study their pupils a...
The estimated prevalence of learning disabilities (LDs) is nearly 8% of all children. Fewer than 5% of all children are diagnosed in public schools, jeopardizing remediation. We aimed to identify barr...
We conducted a qualitative study with individual interviews of 40 professionals from different areas of the United States identified through theoretical sampling (20 educators, 10 pediatricians, and 1...
Themes and sub-themes included: 1) areas requiring improved professional education (misconceptions that may hinder detection, confounding factors that may mask LDs, and need for increasing engagement ...
Clinicians and other child-facing professionals may benefit from augmented training in screening and identification and enhanced evidence-based and institutional guidance. These efforts could increase...