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": "La dysplasie ectodermique affecte-t-elle la dentition ?",
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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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"@type": "Question",
"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,
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"@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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"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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"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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"text": "Des traitements comme l'hydratation et des vêtements adaptés peuvent aider à gérer la chaleur."
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},
{
"@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" :
To investigate the effect of modified colonoscopy nursing pads in colonoscopy....
A total of 262 subjects who underwent colonoscopy at our endoscopy center between September 1, 2021 and February 28, 2022 were selected and randomly divided into a control group and an experimental gr...
The success rate of the first correct position of the examinees in the experimental group was significantly higher than that of the control group (P < 0.05), and the time spent by the nurses to guide ...
The modified colonoscopy nursing pad can save the time of correct colonoscopy positioning of examinees, improve the efficiency of colonoscopy, reduce the workload of nursing staff, effectively protect...
The EndoRings device is a distal attachment consisting of two layers of circular flexible rings that evert mucosal folds. The aim of this study was to investigate whether EndoRing assisted colonoscopy...
Multicenter, parallel group, randomized controlled trial....
Total of 556 patients randomized to ER (n = 275) or SC (n = 281). Colonoscopy completed in 532/556 (96%) cases. EndoRings removed in 74/275 (27%) patients. Total number of polyps in ER limb 582 vs. 51...
Our study shows promise for the EndoRings device to improve polyp detection....
With increasing life expectancy, there is an increasing proportion of nonagenarians undergoing both elective and emergency surgical procedures. The decision as to whom will benefit from surgical proce...
Retrospective study of patients of Dr. G.R (Gastroenterologist) and Dr. W.B (Colorectal Surgeon) between 1 January 2018 and 31 November 2022. All patients who were ≥90 years old and had a colonoscopy ...
post-colonoscopy complications and length of stay....
reasons for colonoscopy, significant colonoscopy findings, 30-day morbidity and mortality....
Sixty patients were included in the study. Median age was 91 (90-100) years old. 33.3% of the patients were males. Seventy percent of the patients were ASA 3. Median length of hospital stay was 1 day....
Colonoscopy can be performed safely in carefully selected nonagenarian patients with acceptable low complication rates....
Artificial intelligence (AI) is a rapidly growing field in gastrointestinal endoscopy, and its potential applications are virtually endless, with studies demonstrating use of AI for early gastric canc...
Multiple randomized controlled trials have now been published which show a statistically significant improvement when using AI to improve adenoma detection and reduce adenoma miss rates during colonos...
Cecal intubation may be unsuccessful by conventional colonoscopy in some patients. Single-balloon-assisted colonoscopy (SBC) and cap-assisted colonoscopy (CAC) were studied to solve this problem. Ther...
We conducted a randomized study from 2018 to 2021 to compare cecal intubation rate of SBC and CAC in patients with previous incomplete conventional colonoscopy. We recruited patients with incomplete c...
Forty-four patients were recruited. Cecal intubation rate was superior in SBC group (22/22, 100%) than CAC group (16/22, 72.7%) (P = 0.02). No difference in cecal intubation time, polyp detection rate...
SBC is superior to CAC in cecal intubation in patients with previous incomplete conventional colonoscopy....
Whether colonoscopy surveillance is useful depends on the impact of colonoscopy surveillance on colorectal cancer incidence and colorectal cancer related mortality. After the introduction of colorecta...
The indications, diagnostic yield, complications, and cecal and ileal intubation rates (CIR and IIR) for colonoscopies in children aged <6 years, denoted preschoolers, is unclear since there is limite...
Retrospective review of all colonoscopies in a tertiary pediatric hospital between December 1, 2014 to December 31, 2020 was undertaken. Demographic factors, indication for colonoscopy, extent of colo...
One thousand six hundred seventy-one total colonoscopies were performed, of which 13% (n = 219) were in preschoolers with median age 3.9 (range 0.3-5.9) years. Most common indications in preschoolers ...
Rectal bleeding was the most common indication and juvenile polyps the most common finding at colonoscopy in preschoolers. A high IIR is achievable in young children but rates are increasingly lower t...
Splenic rupture following colonoscopy (SRFC) is a rare complication and can have associated mortality if left undiagnosed. Most of the cases reported have been managed operatively. Here, we present a ...
Quality of care in colonoscopy is closely related to colonoscopy participants and the nursing workforce in endoscopy-related settings. However, limited data are available on the evaluations and recomm...
With a descriptive qualitative study, semi-structured interviews were conducted between November 2021 and January 2022 with colonoscopy participants (P = 11) and nursing workforce (N = 7) in the endos...
Nine major themes emerged according to the structure, process, and outcome care quality model: workforce structure, quality requirements, unit facilities, nursing tools, nursing quality control system...
The indicator of quality of colonoscopy care should be used to assess and improve current practices to ensure a more direct and sustained impact of colonoscopy care. This study highlights the importan...
Colonoscopy for colorectal cancer screening is endoscopist dependent, and colonoscopy quality improvement programs aim to improve efficacy. This study evaluated the clinical benefit and safety of usin...
This randomized study prospectively evaluated the use of a CADe device at 5 academic and community centers by US board-certified gastroenterologists (n = 22). Participants aged ≥40 scheduled for scree...
Between January and September 2021, 1440 participants were enrolled to be randomized. After exclusion of participants who did not meet the eligibility criteria, 677 in the standard arm and 682 in the ...
For experienced endoscopists performing screening and surveillance colonoscopies in the United States, the CADe device statistically improved overall adenoma detection (APC) without a concomitant incr...
gov registration: NCT04754347....