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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"name": "Les symptômes varient-ils d'une personne à l'autre ?",
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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": {
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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,
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"@type": "Answer",
"text": "Oui, les tests peuvent identifier les porteurs de mutations et informer les décisions familiales."
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"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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"name": "Y a-t-il des traitements pour améliorer la sudation ?",
"position": 18,
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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" :
How should clinicians respond when parents will not allow their child to know the truth about their medical condition and treatment? There is wide consensus amongst clinicians and ethicists that child...
Hip fracture repair surgery carries a certain mortality risk, yet evidence suggests that orthopedic surgeons often refrain from discussing this issue with patients prior to surgery....
This study aims to examine whether orthopedic surgeons raise the issue of one-year post-surgery mortality before hip fracture repair surgery and to explore factors influencing this decision....
The study employs a cross-sectional design, administering validated digital questionnaires to 150 orthopedic surgeons....
A minority of orthopedic surgeons reported always informing patients about the risk of mortality in the year following hip fracture surgery. The main reasons for not discussing this risk were a desire...
These findings suggest a need for interventions to address communication barriers and ensure consistent provision of essential information to patients undergoing hip fracture surgery. Additionally, th...
The study doesn`t report the results of a health care intervention....
Truth-telling in oncology is a major challenge, particularly in the absence of disclosure protocols in Egypt and the lack of Egyptian studies examining patients' preferences regarding cancer disclosur...
This cross-sectional study was conducted on 200 patients selected consecutively from those attending the outpatient clinics of the National Cancer Institute - Cairo University. Face-to-face interviews...
Most patients (89.5%) preferred to know the diagnosis. Of them, 94.4% wished to know from the physician. No agreement was found between most patients' preferences and physicians' practice. On multivar...
Patients have a great desire to know the diagnosis and other information related to treatment and prognosis....
Questions are important tools for uncovering information, but to avoid deception, question askers must be strategic in what and how they ask-and consider the social implications of their questions. As...
Truth-telling in health care is about providing patients with accurate information about their diagnoses and prognoses to enable them to make decisions that can benefit their overall health. Physician...
This was a phenomenological qualitative study. We conducted thirty in-depth interviews with clinicians, nurses, patients and their relatives at Shaheed Suhrawardy Medical College Hospital in Dhaka, Ba...
This study identified three recurring themes relevant to the ethics and practice of truth disclosure: best interest rather than autonomy, the ambivalent value of deception and who understands what. Th...
While truth disclosure to patients is considered an ethical norm in many cultures, such as in the U.K. and the U.S., the practice of concealing or partially revealing severe medical prognoses to patie...
Adolescents comprise a vulnerable population that is exposed to crime and also may be reluctant to disclose full details of their experiences. Little research has addressed effective ways of increasin...
Ethical disclosure of adverse events (AE) presents opportunities and challenges for physicians and has unique ramifications for anesthesiologists. AE disclosure is supported by patients, regulatory or...
The patient-centered communication principles in Western countries are widely esteemed. In Eastern countries, a family-centered approach to medical decision-making is preferred. However, the predicame...
This study used a qualitative description approach to conduct in-depth interviews with attending physicians. Data were collected from two medical centers in Taiwan. Purposive sampling was also conduct...
Four main categories emerged: (1) Causing harm to the patient: Family members' cooperation is needed. (2) Family members' request to conceal the truth: Physicians should judge based on the patient's d...
Physicians in Taiwan face challenges but prioritize family-centered care despite having coping strategies to protect patients. When faced with a scenario in which family members request concealment of...
Illness disclosure refers to when individuals with chronic illnesses make decisions to tell others about their disease. There is a lack of research on the complexity of disclosure among children and y...
A narrative review was completed using three databases. The search yielded 11 articles that utilized various research designs....
Most of the literature was qualitative in nature. Most children and youth engaged in non-disclosure and concealment which is born out of fears of discrimination. Fewer children and youth engaged in un...
Health providers and researchers should critically support disclosure and empower children and youth with the resources they need to be agents in their own disclosure decisions....
Certain pediatric urologic diagnoses can have serious long-term adverse health outcomes. As a result, it is important for a child to be aware of their diagnosis and a prior surgery. When children have...
We developed a survey to assess caregiver plans to disclose early childhood pediatric urologic surgery and evaluate for predictors of disclosure and resources needed....
A questionnaire was distributed to caregivers of male children ≤4 years old undergoing single stage repair of hypospadias, inguinal hernia, chordee, or cryptorchidism as part of an IRB approved resear...
120 survey responses were collected (Summary Table). The majority of caregivers responded affirmatively to planning to disclose their child's surgery (108; 90%). There was no impact of caregiver age, ...
Our study suggests that most caregivers plan to discuss early childhood urologic surgeries with children, however want further guidance in how to talk to their child. While no specific surgery or demo...