ABSTRACT
VEXAS syndrome was recently discovered in patients who developed late in adulthood an inflammatory syndrome with fever, cytopenias, dysplastic bone marrow, cutaneous and pulmonary neutrophilic inflammation, arthritis, chondritis, or vasculitis. It is the result of an inactivating somatic mutation affecting methionine codon 41 of the UBA1 gene which encodes an ubiquitin activating enzyme (E1). Systemic corticosteroids generally reduce symptoms, while other immunosuppressive drugs only have limited long-term effects. Azacitidine is a promising treatment, but further studies are warranted. Here, we describe 2 new cases including one associated with pyoderma gangrenosum and cryoglobulinemia.
Le syndrome VEXAS (Vacuoles, E1 Enzyme, X-Linked, Auto- Inflammatory, Somatic Syndrome) a été récemment découvert chez des patients développant tardivement à l'âge adulte un syndrome inflammatoire associé à de la fièvre, des cytopénies, une moelle osseuse dysplasique, une inflammation neutrophilique cutanée et pulmonaire, des arthrites, des chondrites ou des vasculites. Il est le résultat d'une mutation somatique inactivatrice affectant le codon méthionine 41 du gène UBA1 qui encode une enzyme E1 activant l'ubiquitine. Les corticostéroïdes systémiques permettent généralement de diminuer les symptômes alors que les autres immunosuppresseurs ont un effet limité à long terme. L'azacitidine est l'un des traitements ayant démontré une efficacité, cependant de nouvelles études sont souhaitables. Nous décrivons ici 2 cas dont l'un est associé à un pyoderma gangrenosum et une cryoglobulinémie.
Subject(s)
Myelodysplastic Syndromes , Skin Diseases, Genetic , Vasculitis , Adult , Humans , Inflammation , Mutation , Myelodysplastic Syndromes/diagnosis , Myelodysplastic Syndromes/drug therapy , Myelodysplastic Syndromes/genetics , Pyoderma Gangrenosum , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/drug therapy , Skin Diseases, Genetic/genetics , Ubiquitin-Activating Enzymes/geneticsABSTRACT
Hair loss causes physical and psychological distress and represents a common motive of consultation both in general practice and dermatology. Causes of hair loss are highly diverse and can lead to a challenging diagnosis, which can delay its management. Knowledge of the main causes and their different mechanisms are thus necessary in order to optimize both the diagnosis and treatment. The purpose of this paper is to describe the main causes of hair loss in order to improve its diagnosis and management.
Du fait de l'impact physique et psychologique engendré, la perte de cheveux est un motif de consultation fréquent en médecine de premier recours et en dermatologie. Cependant, en raison de la diversité étiologique dont découle cette perte de cheveux, une connaissance des différents mécanismes et des différentes causes est nécessaire afin d'instaurer le traitement le plus approprié et le plus rapidement possible. Nous détaillerons dans cet article les principales étiologies afin de faciliter l'orientation et la prise en charge.
Subject(s)
Alopecia , Hair , Alopecia/etiology , Alopecia/therapy , Dermatology , Family Practice , Hair/physiopathology , Humans , Referral and ConsultationABSTRACT
Consultations for nail changes are frequent in everyday practice with direct diagnostic considerations into different directions, traumatism, infection, inflammation being the most common ones, and neoplasia being less frequent. The most common symptom is ungual dystrophia ; that is an alteration or perturbation of ungual growth. It presents differently depending on nature or length of the underlying pathologia. The purpose of this article is to highlight some ungual disorders to help the general practitioner to identify and refer them to the specialist if necessary.
Les consultations pour des altérations de la tablette unguéale sont très fréquentes en pratique courante et posent la question de nombreux diagnostics différentiels : parmi les grandes causes des onychopathies, retenons les étiologies traumatiques, infectieuses et inflammatoires, les tumeurs étant une étiologie moins fréquente. Le symptôme le plus commun est la dystrophie unguéale ; elle correspond à une altération ou perturbation de la croissance unguéale. Cette dernière présente différentes formes dépendant de la nature ou de la durée de la pathologie sous-jacente. Nous rapportons un cas dans le but de mettre en avant les différentes pathologies unguéales auxquelles le médecin généraliste peut être confronté afin de l'aider dans sa tâche à identifier et référer au spécialiste si besoin.
Subject(s)
General Practice , Nail Diseases/diagnosis , Nails/pathology , Humans , Nail Diseases/pathology , Nail Diseases/therapy , Referral and ConsultationSubject(s)
Genetic Predisposition to Disease , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , Keratin-5/genetics , Pigmentation Disorders/pathology , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/genetics , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/genetics , Biopsy, Needle , Child , Diagnosis, Differential , Female , Humans , Hyperpigmentation/pathology , Immunohistochemistry , Pigmentation Disorders/diagnosis , Rare Diseases , Skin Diseases, Genetic/pathology , Skin Diseases, Papulosquamous/pathology , Vulvar Neoplasms/diagnosis , Vulvar Neoplasms/pathologyABSTRACT
Auto-immune reactions, including auto-immune bullous disease, have been reported following SARS-CoV-2 virus vaccination. Few cases of bullous pemphigoid are described, but there has been no case of pemphigoid gestationis. We report the first case here.
ABSTRACT
Blue nevus is a congenital and acquired melanocytic proliferation that includes different histological types. The atypical cellular type has been rarely described and it classically has a benign course. However, because of its intermediate features between common blue nevus and malignant blue nevus, long-term clinical follow-up is required. Here we report the case of a 28-year-old woman who presented with an atypical cellular blue nevus on the right foot.
ABSTRACT
Syphilis has been reinstated on the list of notifiable diseases in Switzerland since 2006 and the active management of sexual partners is encouraged to avoid reinfection. However, contact tracing has yielded unsatisfactory results and the incidence of syphilis remains important, especially in high-risk populations. The aim of this study was to compare the proportions of notified sexual partners of patients diagnosed with syphilis by the laboratories of Geneva University Hospitals (HUG) with those diagnosed in private laboratories (non-HUG) and to assess the risk factors for no notification to sexual partners. All syphilis cases notified to the Office of the Surgeon General in Geneva (Switzerland) between 1 January 2011 and 31 December 2013 were analysed. The proportions of partner notification (PN) between HUG and non-HUG laboratories were compared by Chi square test and the main risk factors for no notification to sexual partners were assessed by binomial log-linear regression. Among a total of 720 notifications reported, 244 cases were diagnosed with contagious syphilis stages and 263 with non-contagious stages (i.e. successfully treated patients with or late latent cases). Overall, PN was higher among contagious than non-contagious cases (58.4% versus 31.0%; p = 0.030) and it was significantly higher in the non-HUG compared to the HUG group (75.9% versus 50.0%, respectively; p < 0.001). Risk factors independently associated with no notification to sexual partners were the place of diagnosis (risk ratio [RR] 1.66; 95% confidence interval [CI] 1.21-2.27 for HUG versus non-HUG, respectively), age >45 years (RR 1.36; 95% CI: 1.05-1.76) and if the patient had received treatment for syphilis (RR 1.91; 95% CI: 1.38-2.66). Our results illustrate the difficulty of contact tracing in syphilis infection and the necessity to improve this crucial part of sexually transmitted infection management.