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 :
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"name": "Comment diagnostique-t-on la 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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"text": "Des examens cliniques, des analyses de sang et des tests d'imagerie peuvent être réalisés."
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"@type": "Question",
"name": "La biopsie est-elle utile pour le diagnostic ?",
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"@type": "Question",
"name": "Les antécédents familiaux sont-ils importants ?",
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"name": "Quels sont les symptômes courants de la dysplasie ectodermique ?",
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"text": "Les symptômes incluent des anomalies dentaires, des cheveux clairsemés et une sudation réduite."
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"@type": "Question",
"name": "La dysplasie ectodermique affecte-t-elle la dentition ?",
"position": 7,
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"text": "Oui, elle peut entraîner des dents manquantes, malformées ou en nombre réduit."
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"@type": "Question",
"name": "Y a-t-il des problèmes de peau associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cutanées comme une peau sèche ou des éruptions peuvent survenir."
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"@type": "Question",
"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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"text": "Oui, l'expression des symptômes peut varier considérablement selon les individus."
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"@type": "Question",
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"position": 11,
"acceptedAnswer": {
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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,
"acceptedAnswer": {
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"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,
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"name": "Y a-t-il des mesures préventives pour les enfants ?",
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"text": "Bien qu'il n'y ait pas de prévention, un suivi médical régulier est conseillé."
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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 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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"@type": "Question",
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"@type": "Question",
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"@type": "Question",
"name": "Les infections sont-elles fréquentes ?",
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"name": "Y a-t-il des complications psychologiques ?",
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"text": "Oui, les problèmes d'apparence peuvent entraîner des troubles de l'estime de soi et de l'anxiété."
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"@type": "Question",
"name": "Les problèmes dentaires peuvent-ils causer des douleurs ?",
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"text": "Oui, les anomalies dentaires peuvent entraîner des douleurs et des difficultés à mastiquer."
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"name": "Les troubles thermiques peuvent-ils être graves ?",
"position": 25,
"acceptedAnswer": {
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"text": "Oui, des troubles thermiques peuvent entraîner des coups de chaleur dans des conditions extrêmes."
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"@type": "Question",
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"text": "Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques spécifiques."
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"name": "La consanguinité augmente-t-elle le risque ?",
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"@type": "Question",
"name": "Les hommes sont-ils plus touchés que les femmes ?",
"position": 28,
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"text": "Oui, certaines formes de dysplasie ectodermique sont plus fréquentes chez les hommes."
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},
{
"@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."
}
}
]
}
]
}
Vitamin D deficiency is increasingly common in systemic lupus erythematosus (SLE) patients and is associated with the disease activity and proteinuria. Recently, alterations in metabolism have been re...
This study aimed to investigate the incidence of vitamin D deficiency in patients with adolescent idiopathic scoliosis through a meta-analysis and to analyze trends and risk factors....
Potentially relevant studies were searched using the terms "Vitamin D AND scoliosis." Data on the incidence and risk factors, such as race, curve magnitude, and sex, were extracted from the selected s...
The incidence of vitamin D insufficiency in patients with idiopathic scoliosis was 36.19% (95% CI [21.93 to 50.46]. In contrast, the incidence of vitamin D deficiency was 41.43% (95% CI [16.62 66.23]....
The incidence rates of vitamin D insufficiency and deficiency in patients with adolescent idiopathic scoliosis were 36.19% and 41.43%, respectively. The Caucasian race was associated with a lower risk...
Vitamin D plays a vital role in regulating calcium and phosphate metabolism and maintaining bone health. A state of prolonged or profound vitamin D deficiency (VDD) can result in rickets in children a...
Neurological disorders are the major cause of disability, leading to a decrease in quality of life by impairing cognitive, sensorimotor, and motor functioning. Several factors have been proposed in th...
Background: Maternal passive smoking and vitamin D deficiency might elevate risk of spontaneous abortion. The study aimed to investigate the association of co-exposure to passive smoking and vitamin D...
One of the extraosseous effects of vitamin D is that it is a potent modulator of inflammatory processes. Many studies have demonstrated the inverse association between vitamin D and inflammation. Ther...
We conducted a retrospective study on healthy children. From 2015 to 2020, 16,321 children with simultaneous vitamin D and hemogram measurements were identified from electronic records. Participants w...
Statistically significant differences were detected between vitamin D status and inflammatory parameters. However, the difference between the median values of vitamin D groups was very small and the d...
The clinical and biochemical overlap of various pathologies of phosphocalcic metabolism can lead to misdiagnosis and consequent clinical management. One example is pseudohypoparathyroidism, which can ...
Two pairs of siblings, from independent families, were clinically diagnosed in adolescence with pseudohypoparathyroidism due to hypocalcaemia, elevated parathyroid hormone levels and normal or elevate...
Two genetic variants in the CYP27B1 gene potentially associated with the phenotype were identified. Pathogenic variants in this gene are associated with VDDR1A. Clinical-biochemical re-evaluation of t...
Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)...
Hypophosphatasia (HPP) is characterized by severe skeletal symptoms including mineralization defects, insufficiency fractures, and delayed facture healing or non-unions. HPP is caused by mutations of ...
Asthma, as a chronic inflammatory condition of the airways, has a considerable prevalence among children. Vitamin D might play a role in asthma pathogenesis by affecting the development of the lung, r...
To compare the histopathological findings of patients who had been diagnosed with dermatochalasis (DC) and had undergone upper eyelid blepharoplasty (ULB) as well as those of controls (C-Group) accord...
The prospective study included 136 upper eyelid skin from 68 patients who underwent surgery for DC and 53 upper eyelid skin from 53 patients who underwent levator surgery with ULB. The DC Group was th...
In comparison to the C-Group, significant changes were seen in the dilated LV, DLLV, SCB depth, interfibrillar edema, elastic fiber density, and macrophage count in the DC sub-Groups (P < 0.001 for al...
According to the results of this study, SVD level was significantly lower in DC group. Moreover, an increased LV count and diameter, decreased elastic fiber count, collagen fiber and stromal edema irr...