Comment diagnostiquer une dermatite ?

Un examen clinique et des antécédents médicaux sont nécessaires.

Quels tests pour le psoriasis ?

Une biopsie cutanée peut confirmer le diagnostic de psoriasis.

Comment évaluer une infection cutanée ?

L'évaluation se fait par inspection et culture de la lésion.

Quels signes indiquent un cancer de la peau ?

Des changements dans les grains de beauté ou des lésions cutanées persistantes.

Comment diagnostiquer une allergie cutanée ?

Des tests cutanés ou des analyses sanguines peuvent être réalisés.

Quels sont les symptômes de l'eczéma ?

Démangeaisons, rougeurs et sécheresse de la peau sont fréquents.

Comment reconnaître une infection fongique ?

Des démangeaisons, des rougeurs et des squames peuvent apparaître.

Quels symptômes d'une brûlure ?

Rougeur, douleur, gonflement et parfois cloques.

Quels signes d'une réaction allergique ?

Rougeurs, démangeaisons et gonflement localisé.

Quels symptômes d'une acné sévère ?

Présence de boutons, kystes et inflammation cutanée.

Comment prévenir les infections cutanées ?

Maintenir une bonne hygiène et éviter les blessures cutanées.

Quelles mesures pour éviter les brûlures ?

Utiliser des protections et éviter les surfaces chaudes.

Comment prévenir l'acné ?

Nettoyer régulièrement la peau et éviter les produits comédogènes.

Quelles précautions pour le psoriasis ?

Éviter le stress et les irritants cutanés pour réduire les poussées.

Comment prévenir les allergies cutanées ?

Identifier et éviter les allergènes connus.

Quels traitements pour le psoriasis ?

Les traitements incluent des crèmes topiques et des thérapies systémiques.

Comment traiter une dermatite atopique ?

Hydratation régulière et corticostéroïdes topiques sont recommandés.

Quel traitement pour les infections cutanées ?

Antibiotiques oraux ou topiques selon la gravité de l'infection.

Comment traiter les brûlures légères ?

Refroidir la brûlure et appliquer des crèmes apaisantes.

Quels traitements pour l'acné ?

Les traitements incluent des rétinoïdes et des antibiotiques topiques.

Quelles complications du psoriasis ?

Peut entraîner des infections cutanées et des problèmes articulaires.

Quels risques d'une dermatite non traitée ?

Peut provoquer des infections secondaires et des cicatrices.

Quelles complications des brûlures graves ?

Peuvent entraîner des infections, des cicatrices et des déformations.

Quels risques d'une acné sévère ?

Peut causer des cicatrices permanentes et des problèmes psychologiques.

Quelles complications des infections cutanées ?

Peuvent se propager et causer des infections systémiques graves.

Quels facteurs de risque pour le psoriasis ?

Antécédents familiaux, stress et obésité augmentent le risque.

Quels risques liés à l'exposition au soleil ?

Peut provoquer des coups de soleil et augmenter le risque de cancer de la peau.

Quels facteurs aggravent l'acné ?

Hormones, stress et certains médicaments peuvent aggraver l'acné.

Quels facteurs de risque pour les infections cutanées ?

Peau endommagée, diabète et immunodépression augmentent le risque.

Quels facteurs de risque pour les allergies cutanées ?

Antécédents d'allergies et exposition à des irritants chimiques.

Phénomènes physiologiques du système tégumentaire - Informations médicales vérifiée

The research output of rod-cone dystrophy genetics.

23 04 2022

DOI: 10.1186/s13023-022-02318-5 PMID: 35461258

Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics pe...

China Cone-Rod Dystrophies Humans India Japan +1 autres

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

08 03 2022

DOI: 10.1038/s41598-022-07618-1 PMID: 35260635

Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone and cone-rod dystrophies (MD, CD, and CRD) were examined using next-generation sequencing (NGS) and gene sequenc...

ATP-Binding Cassette Transporters Bestrophins Cone-Rod Dystrophies Electroretinography Humans +5 autres

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

10 2023

DOI: 10.1016/j.ajo.2023.05.015 PMID: 37327959

To describe the genetic and clinical spectrum of GUCY2D-associated retinopathies and to accurately establish their prevalence in a large cohort of patients.... Retrospective case series.... Institutional study of 47 patients from 27 unrelated families with retinal dystrophies carrying disease-causing GUCY2D variants from the Fundación Jiménez Díaz hospital dataset of 8000 patients. Patie... Four clinically different associated phenotypes were identified: 66.7% of families with cone/cone-rod dystrophy, 22.2% with Leber congenital amaurosis, 7.4% with early-onset retinitis pigmentosa, and ... This study represents the largest GUCY2D cohort in which 4 distinctly different phenotypes were identified, including rare intermediate presentations of rod-dominated retinopathies. We established tha...

Humans Cone-Rod Dystrophies Genotype Leber Congenital Amaurosis Mutation +4 autres

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.

12 2023

DOI: 10.1007/s10633-023-09954-7 PMID: 37775646

To describe the natural history of autosomal dominant (AD) GUCY2D-associated cone-rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers.... Retrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two sites. Assessments included central macular thickness (CMT) and length of disruption to the ellipsoid zone (EZ) via o... At first visit, with a mean age of 30 years (range 5-70 years), 12 patients had a BCVA below Australian driving standard (LogMAR ≥ 0.3 bilaterally), and 1 patient was legally blind (LogMAR ≥ 1). Longi... We have described the natural long-term decline in vision and cone function associated with mutations in GUCY2D and identified a set of functional and structural biomarkers that may be useful as outco...

Humans Child, Preschool Child Adolescent Young Adult +11 autres

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.

08 2022

DOI: 10.1016/j.oret.2022.03.008 PMID: 35314386

To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for future... International, multicenter, retrospective cohort study.... Eighty-two patients with GUCY2D-associated LCA or CORD from 54 families.... Medical records were reviewed for medical history, best-corrected visual acuity (BCVA), ophthalmoscopy, visual fields, full-field electroretinography, and retinal imaging (fundus photography, spectral... Age of onset, evolution of BCVA, genotype-phenotype correlations, anatomic characteristics on funduscopy, and multimodal imaging.... Fourteen patients with autosomal recessive LCA and 68 with autosomal dominant CORD were included. The median follow-up times were 5.2 years (interquartile range [IQR] 2.6-8.8 years) for LCA and 7.2 ye... Leber congenital amaurosis associated with GUCY2D caused severe congenital visual impairment with relatively intact macular anatomy on funduscopy and available imaging, suggesting long preservation of...

Cone-Rod Dystrophies Humans Leber Congenital Amaurosis Retrospective Studies Vision Disorders +1 autres

Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.

Jun 2023

DOI: 10.1007/s10633-022-09916-5 PMID: 36609934

Mutations in the peripherin-2 gene (PRPH2) are a common cause of inherited retinal dystrophies well known for their phenotypic diversity. We describe a novel presentation of the c.623G > A; p.(Gly208A... A 39-year-old man presents with a history of decreased visual acuity, photophobia, and dyschromatopsia. Fundus examination was largely unremarkable while spectral-domain optical coherence tomography (... This case report broadens the known phenotypic presentations of PRPH2-associated retinopathy and suggests that the PRPH2 variant c.623G > A; p.(Gly208Asp) may be associated with reduced penetrance....

Male Humans Adult Middle Aged Cone-Rod Dystrophies +7 autres

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.

2022

DOI: 10.1371/journal.pone.0278857 PMID: 36490268

Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain phenotypes and extended range of intra- and in...

Humans Calcium Channels Cone-Rod Dystrophies DNA Mutational Analysis Genes, Modifier +5 autres

Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.

28 Jan 2024

DOI: 10.1016/j.gim.2024.101081 PMID: 38293907

Progressive inherited retinal degenerations (IRDs) affecting rods and cones are clinically and genetically heterogeneous and can lead to blindness with limited therapeutic options. The major gene defe... Genome, targeted next-generation and Sanger sequencing was applied to cohort of ∼4000 IRDs cases. Expression analyses were performed including Chip-seq database analyses, on human-derived retinal orga... Here we identified a novel gene defect with three distinct pathogenic variants in UBAP1L in four independent autosomal recessive IRD cases from Tunisia. UBAP1L is expressed in the RPE and retina, spec... Biallelic UBAP1L variants are a novel cause of IRDs, most likely enriched in the North African population....

Two cases of unilateral cone-rod dysfunction presenting in adult females.

12 2022

DOI: 10.1007/s10633-022-09893-9 PMID: 36070159

To describe cases of unilateral cone-rod dysfunction presenting in two middle-aged females.... This case series highlights two middle-aged female patients with progressive visual decline in one eye. Fundus photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography ... In the first patient, mfERG showed an extinguished response and ffERG demonstrated markedly reduced a-wave and b-wave amplitudes (more pronounced under photopic conditions) in the right eye. SD-OCT sh... These two cases add to the literature of case reports of unilateral cone-rod and rod-cone dystrophies. However, the underlying etiology of the unilateral pattern of cone-rod dysfunction and the signif...

Adult Middle Aged Humans Female Electroretinography +7 autres

Sturge Weber Syndrome and Rod Cone Dystrophy.

12 Aug 2023

DOI: 10.1093/qjmed/hcad190 PMID: 37572312

A 38-year-old patient presented with decreased vision and was found to have right sided facial port-wine stain, telangiectasia of episcleral vessels, and posterior subcapsular cataract. Both eyes show...

Phénomènes physiologiques du système tégumentaire : Questions médicales fréquentes

Termes MeSH sélectionnés :

Questions fréquentes et termes MeSH associés

Diagnostic 5

Symptômes 5

Prévention 5

Traitements 5

Complications 5

Facteurs de risque 5

Contenu validé par Dr Olivier Menir

Sous-catégories

Phénomènes physiologiques de la peau

Élimination cutanée

Réflexe psychogalvanique

Horripilation

Absorption cutanée

Vieillissement de la peau

Température cutanée

Hâle

Auteurs principaux

Sources (4534 au total)