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 ?",
"position": 2,
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"@type": "Question",
"name": "La biopsie est-elle utile pour le diagnostic ?",
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"name": "Y a-t-il des problèmes de peau associés ?",
"position": 8,
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"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,
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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,
"acceptedAnswer": {
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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,
"acceptedAnswer": {
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"text": "Bien qu'il n'y ait pas de prévention, un suivi médical régulier est conseillé."
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"@type": "Question",
"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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"@type": "Question",
"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" :
Automatic polysomnography analysis can be leveraged to shorten scoring times, reduce associated costs, and ultimately improve the overall diagnosis of sleep disorders. Multiple and diverse strategies ...
Morningness-eveningness preference, also known as chronotype, is the tendency for a person to sleep during certain hours of the day and is broadly categorised into morning and evening types. In-labora...
Children with genetic skeletal disorders have variable conditions that can lead to sleep-disordered breathing, and polysomnography is the gold standard for diagnosing this condition. We aimed to revie...
The importance polysomnography (PSG) in the diagnosis and treatment process of insomnia disorder (ID) remains highly disputed. This review summarises the state of the science regarding PSG indications...
Sleep disorders in patients with autoimmune encephalitis (AE) are increasingly reported. Early recognition and treatment have significant importance regarding the potential of sleep disorders' effect ...
Seventeen patients with diagnosed AE and acute or subacute onset sleep complaints who underwent video-electroencephalography-PSG recordings in our tertiary center were investigated....
The mean age was 50, with eight females and nine males. The detected antibodies were against leucine-rich glioma-inactivated 1(LGI-1) in 6, anti-contactin-associated protein-2(CASPR2) in 3, voltage-ga...
Sleep disorders are frequent and essential components of AEs. Systematic clinical questionnaires and routine PSG assessments would significantly impact the correct diagnosis and proper treatment of SR...
To characterize 1) the relationship between laxative use and objective sleep metrics, and 2) the relationship between laxative use and self-reported insomnia symptoms in a convenience sample of middle...
We cross-sectionally analyzed first-night diagnostic in-laboratory polysomnography data for 2946 patients over the age of 40 (mean age 60.5 years; 48.3% male). Laxative use and medical comorbidities w...
After adjusting for age, sex, body mass index, total recording time, and relevant comorbidities, laxative users had a 7.1% lower sleep efficiency (...
Laxative use is associated with impairments in objective sleep continuity. Patients using laxatives were also at greater odds of reporting insomnia symptoms....
We provide an umbrella review of the reported polysomnographic changes in patients with neuropsychiatric diseases compared with healthy controls....
An electronic literature search was conducted in EMBASE, MEDLINE, All EBM databases, CINAHL, and PsycINFO. Meta-analyses of case-control studies investigating the polysomnographic changes in patients ...
We identified 27 articles, including 465 case-control studies in 27 neuropsychiatric diseases. The levels of evidence of polysomnographic changes in neuropsychiatric diseases were highly suggestive fo...
The credibility of evidence for sleep characteristics in 27 neuropsychiatric diseases varied across polysomnographic variables and diseases. When considering the patterns of altered PSG variables, no ...
Due to potential issues, several sleep laboratories conduct sleep bruxism diagnosis without the use of a camera, instead relying mostly on electromyographic monitoring. The purpose of the study was to...
To provide an updated comparison of apnea-hypopnea index (AHI), oxygen desaturation index (ODI), respiratory disturbance index (RDI), oxygen saturation (O...
Primary studies were identified through PubMed, Scopus, CINAHL, and Cochrane....
A systematic review was performed by searching databases from inception through August 2021. Only studies examining simultaneous monitoring of a PSSD and PSG were included. Respiratory indices AHI, OD...
A total of 24 studies (N = 1644 patients) were included. The mean age was 49.5 ± 12.0 (range = 13-92), mean body mass index (BMI) was 30.4 ± 5.7 (range = 17-87), and 69.4% were male. Meta-correlation ...
Respiratory indices correlate strongly between PSSD and PSG, which is further supported by meta-regressions results. PSSD might be a valuable cost and time-saving OSA screening tool....
It is estimated that half of Canadians have insufficient sleep, which over time is associated with poor physical and mental health. Currently, the only publicly funded option for the diagnosis of slee...
We performed a systematic literature search of the clinical evidence to identify diagnostic accuracy, test failures and subjective measures of patient preferences. We assessed the risk of bias of each...
We included 10 studies that reported on diagnostic accuracy and found level 2 polysomnography had sensitivity ranging between 0.76-1.0 and specificity ranging between 0.40-1.0 (GRADE: Moderate to Very...
Level 2 polysomnography may have good test performance for adults and children, with adequate diagnostic accuracy, compared with level 1 polysomnography. The economic analyses showed that level 2 poly...