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Maladies métaboliques et nutritionnelles
Maladies métaboliques
Troubles dus à un défaut de réparation de l'ADN
Xeroderma pigmentosum
Xeroderma pigmentosum : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Xeroderma pigmentosum
Tests génétiques
Sensibilité à la lumière
Analyse génétique
Xeroderma pigmentosum
Âge
Taches pigmentées
Cancer de la peau
Réparation de l'ADN
Tests de laboratoire
Symptômes
5
Symptômes
Sensibilité au soleil
Enfance
Exposition au soleil
Cataracte
Lésions de la cornée
Exposition au soleil
Lésions cutanées
Prévention
5
Prévention
Exposition au soleil
Vêtements protecteurs
Rayons UV
Examens dermatologiques
Lésions cutanées
Enfants
Protection solaire
Antioxydants
Alimentation
Traitements
5
Protection solaire
Soins dermatologiques
Chirurgie
Lésions cutanées
Médicaments
Crèmes topiques
Protection solaire
Rayons UV
Thérapie génique
Traitements expérimentaux
Complications
5
Cancers cutanés
Infections
Risque de cancer
Cancers cutanés
Infections cutanées
Lésions
Cataracte
Tumeurs oculaires
Prévention
Soins réguliers
Facteurs de risque
5
Antécédents familiaux
Mutations génétiques
Race
Origine géographique
Exposition au soleil
Complications
Immunodépression
Complications cutanées
Pollution
Produits chimiques
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"name": "Comment diagnostique-t-on le xeroderma pigmentosum ?",
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"text": "Le diagnostic repose sur l'examen clinique, l'historique familial et des tests génétiques."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests de sensibilité à la lumière et des analyses génétiques sont effectués."
}
},
{
"@type": "Question",
"name": "Le diagnostic peut-il être fait à tout âge ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le diagnostic peut être établi dès l'enfance ou à l'âge adulte."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent cette maladie ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des taches pigmentées, des brûlures cutanées et des cancers cutanés précoces sont des signes."
}
},
{
"@type": "Question",
"name": "Y a-t-il des tests de laboratoire spécifiques ?",
"position": 5,
"acceptedAnswer": {
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"text": "Des tests de réparation de l'ADN peuvent être réalisés pour confirmer le diagnostic."
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"@type": "Question",
"name": "Quels sont les symptômes principaux du xeroderma pigmentosum ?",
"position": 6,
"acceptedAnswer": {
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"text": "Les symptômes incluent des taches cutanées, des brûlures et une sensibilité accrue au soleil."
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"@type": "Question",
"name": "Les symptômes apparaissent-ils dès la naissance ?",
"position": 7,
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"text": "Non, les symptômes apparaissent généralement dans l'enfance après l'exposition au soleil."
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"@type": "Question",
"name": "Y a-t-il des symptômes oculaires associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des problèmes oculaires comme la cataracte et des lésions de la cornée peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'intensité et le type de symptômes peuvent varier selon les individus."
}
},
{
"@type": "Question",
"name": "Peut-on avoir des symptômes sans exposition au soleil ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes sont généralement liés à l'exposition au soleil, mais des lésions peuvent survenir sans."
}
},
{
"@type": "Question",
"name": "Comment prévenir les complications du xeroderma pigmentosum ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Éviter l'exposition au soleil et utiliser des écrans solaires est essentiel pour la prévention."
}
},
{
"@type": "Question",
"name": "Les vêtements peuvent-ils aider à la prévention ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, porter des vêtements protecteurs et des chapeaux aide à réduire l'exposition aux UV."
}
},
{
"@type": "Question",
"name": "Des examens réguliers sont-ils nécessaires ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des examens dermatologiques réguliers sont recommandés pour détecter les lésions précoces."
}
},
{
"@type": "Question",
"name": "Les enfants doivent-ils être particulièrement protégés ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants atteints doivent être protégés des rayons UV dès leur plus jeune âge."
}
},
{
"@type": "Question",
"name": "Y a-t-il des recommandations alimentaires ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation riche en antioxydants peut aider à protéger la peau des dommages."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour le xeroderma pigmentosum ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement inclut la protection solaire, des soins dermatologiques et des interventions chirurgicales."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle nécessaire ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la chirurgie peut être nécessaire pour enlever les lésions cutanées ou les cancers."
}
},
{
"@type": "Question",
"name": "Des médicaments sont-ils prescrits ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des crèmes topiques et des médicaments pour traiter les lésions peuvent être prescrits."
}
},
{
"@type": "Question",
"name": "Comment la protection solaire aide-t-elle ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "La protection solaire réduit le risque de brûlures et de cancers cutanés en bloquant les UV."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des recherches sont en cours sur des thérapies géniques et des traitements innovants."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles du xeroderma pigmentosum ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des cancers cutanés, des infections et des problèmes oculaires."
}
},
{
"@type": "Question",
"name": "Le risque de cancer est-il élevé ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes atteintes ont un risque significativement accru de développer des cancers cutanés."
}
},
{
"@type": "Question",
"name": "Les infections cutanées sont-elles fréquentes ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les lésions cutanées peuvent s'infecter facilement, nécessitant des soins appropriés."
}
},
{
"@type": "Question",
"name": "Y a-t-il des complications oculaires ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications comme la cataracte et des tumeurs oculaires peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être évitées par une protection solaire rigoureuse et des soins réguliers."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque du xeroderma pigmentosum ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux et des mutations génétiques spécifiques."
}
},
{
"@type": "Question",
"name": "La race influence-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le xeroderma pigmentosum est plus fréquent chez les personnes d'origine nord-africaine ou méditerranéenne."
}
},
{
"@type": "Question",
"name": "L'exposition au soleil est-elle un facteur de risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition répétée au soleil aggrave les symptômes et augmente le risque de complications."
}
},
{
"@type": "Question",
"name": "Les personnes immunodéprimées sont-elles à risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes immunodéprimées peuvent avoir un risque accru de complications cutanées."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des facteurs comme la pollution et l'exposition à des produits chimiques peuvent jouer un rôle."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 23/04/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, United Kingdom.
Publications dans "Xeroderma pigmentosum" :
4 publications dans cette catégorie
Affiliations :
National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Publications dans "Xeroderma pigmentosum" :
4 publications dans cette catégorie
Affiliations :
School of Cancer & Pharmaceutical Sciences, King's College London, London, UK.
Publications dans "Xeroderma pigmentosum" :
4 publications dans cette catégorie
Affiliations :
Laboratory of Genetic Instability and Oncogenesis, UMR8200 CNRS, Gustave Roussy, Université Paris-Sud, Villejuif, France.
Publications dans "Xeroderma pigmentosum" :
3 publications dans cette catégorie
Affiliations :
Division of Dermatology, Kobe University Graduate School of Medicine.
Publications dans "Xeroderma pigmentosum" :
3 publications dans cette catégorie
Affiliations :
Clinic and Policlinic of Dermatology and Venerology, University Medical Center Rostock, Rostock, Germany.
Publications dans "Xeroderma pigmentosum" :
3 publications dans cette catégorie
Affiliations :
Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Publications dans "Xeroderma pigmentosum" :
3 publications dans cette catégorie
Affiliations :
Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Publications dans "Xeroderma pigmentosum" :
3 publications dans cette catégorie
Affiliations :
Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Publications dans "Xeroderma pigmentosum" :
3 publications dans cette catégorie
Affiliations :
Operation Eyesight Universal Institute for Eye Cancer, L V Prasad Eye Institute, Hyderabad, India; and.
Publications dans "Xeroderma pigmentosum" :
3 publications dans cette catégorie
Affiliations :
School of Cancer & Pharmaceutical Sciences, King's College London, London, UK.
Publications dans "Xeroderma pigmentosum" :
3 publications dans cette catégorie
Affiliations :
DNA Repair Laboratory, Department of Microbiology, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, SP, Brazil.
Publications dans "Xeroderma pigmentosum" :
2 publications dans cette catégorie
Affiliations :
Clinic and Policlinic of Dermatology and Venerology, University Medical Center Rostock, Rostock, Germany.
Publications dans "Xeroderma pigmentosum" :
2 publications dans cette catégorie
Affiliations :
Clinic and Policlinic of Dermatology and Venerology, University Medical Center Rostock, Rostock, Germany. lars.boeckmann@med.uni-rostock.de.
Publications dans "Xeroderma pigmentosum" :
2 publications dans cette catégorie
Affiliations :
Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. Electronic address: kraemerk@mail.nih.gov.
Publications dans "Xeroderma pigmentosum" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology and Visual Sciences, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Department of Pathology, Escola Paulista de Medicine, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Publications dans "Xeroderma pigmentosum" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology and Visual Sciences, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Publications dans "Xeroderma pigmentosum" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology and Visual Sciences, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Publications dans "Xeroderma pigmentosum" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology and Visual Sciences, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Publications dans "Xeroderma pigmentosum" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology and Visual Sciences, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Publications dans "Xeroderma pigmentosum" :
Interstitial lung diseases are associated with high morbitity and mortality. Rapid diagnosis in a qualified center is necessary in order to provide the best possible treatment. However, geographic dis...
We conducted a realist review of state-authorized dyslexia pilot projects to understand how they have been implemented and evaluated, and the extent to which they adhere to best practice recommendatio...
Increased noxious noise leads to adverse short-term and long-term effects on the growing neonate. The American Academy of Pediatrics recommends maintaining a noise level of less than 45 decibels (dBA)...
The purpose of this pilot project was to reduce the average noise levels by 39% at the end of an 11-week period....
The location of the project was in a large, high-acuity level IV open-pod layout NICU that consisted of 4 pods, one of which was cardiac-focused. The average baseline noise level in the cardiac pod wa...
At the end of the project, noise levels decreased from 62.6 dBA to 54 dBA, a 13.7% reduction....
At the end of this pilot project it was noted that: Online modules were the best way to educate staff. Parents should be included in the implementation of quality improvement. Healthcare providers nee...
Hospitalized patients after suicide attempts gave informed consent to a postvention project after discharge. A continuous caregiver contacted the subjects monthly by phone for a period of 1 year. In c...
Measuring the hypovolemic resuscitation end point remains a critical care challenge. Our project compared clinical hypovolemia (CH) with three diagnostic adjuncts: 1) noninvasive cardiac output monito...
Adult trauma/surgical intensive care unit patients were prospectively screened for suspected hypovolemia after acute resuscitation, excluding patients with burns, known heart failure, or severe liver/...
44 patients (62% male, median age 60) yielded 65 measures. Positive agreement with CH was 47% for NICOM, 37% for US-IVC and 10% for US-C. None of the three adjuncts correlated with CH (κ -0.045 to 0.0...
None of the adjunct measurements correlated with CH or each other, highlighting that fluid status assessment remains challenging in critical care. US should assess for right ventricular dysfunction pr...
People living with chronic disease should ideally engage with community-based exercise services following hospital-based rehabilitation. However, transition from hospital to community exercise setting...
The aims of this study were to develop and explore the feasibility of a pilot exercise referral pathway between an acute hospital and community gyms for patients with chronic health conditions and to ...
A stakeholder-informed exercise referral pathway was developed and offered to patients following completion of a hospital-based exercise programme for a chronic health condition. The pathway was evalu...
Forty-nine people living with chronic conditions (mean age 72 ± 7.8 years) participated (recruitment rate 59%). The average number of community gym visits over 4 months was 17.4 (range 0-51). Twenty-n...
A structured exercise referral pathway to support exercise transition between hospital and community settings in populations with chronic health conditions appears feasible. Participants reported high...
This manuscript offers findings from a pilot project which prepares nursing students for embodied professional practice through the lens of ethics. Four undergraduate nursing students were mentored by...
Chlamydia disproportionately affects individuals aged 15-24 years. A lack of chlamydia knowledge in this high-risk group likely contributes to decreased testing, but interventions to increase chlamydi...
A pre- and post-test design was used to evaluate participant knowledge of chlamydia before and after completing a nurse-developed web-based education intervention designed for university students....
Forty-seven undergraduate students at one U.S. university participated. A focus group and scientific evidence informed the development of the web-based education....
Participants had a significant increase in chlamydia knowledge after completing the online educational intervention (M = 8.0, SD = 0.000) compared to baseline (M = 6.5, SD = 1.5), t(33) = -5.821, p < ...
In the twenty-first century, health systems have to cope with the challenges posed by their rapidly changing environment. Among these changes, the emergence of digital health solutions is an opportuni...
This study is based on a survey of the dental care provided by three units (Oral Medicine, Periodontology, Orthodontics) of the Department of Community Dentistry, Semmelweis University, Budapest. Duri...
According to our findings, teledentistry has the potential to shorten the visit with an average of 5-10 min per patient, which adds up to 58-116 work hours in a year. If the pilot was rolled out to al...
The rapid development of digital health technologies coupled with the evolving task distribution between health professionals have a great potential to improve health system performance in pursuit of ...
Obesity is a chronic, multifactorial disease which is linked to a number of adverse endocrinological and metabolic conditions. Currently, bariatric surgery is one of the most effective treatments for ...