Update of penetrance estimates in Birt-Hogg-Dubé syndrome.

Background: Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants in the gene. Patients with BHD syndrome have an increased risk of fibrofolliculomas, pulmonary cysts, pneumothorax and renal cell carcinoma. There is debate regarding whether colonic polyps should be added to the criteria.

Presentation and Real-World Management of Giant Cell Arteritis (Artemis Study).

Few studies of daily practice for patients with giant cell arteritis (GCA) are available. This French study aimed to describe the characteristics and management of GCA in a real-life setting. Cross-sectional, non-interventional, multicenter study of patients ≥50 years old who consulted hospital-based specialists for GCA and were under treatment.

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

Backgroud: Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressive renal failure, early stroke and hypertrophic cardiomyopathy, with a diminished life expectancy.

Rituximab-associated Vasculitis Flare: Incidence, Predictors, and Outcome.

Objective: To report the incidence, predictors, and outcome of rituximab (RTX)-associated autoimmune disease flare.

Methods: We conducted a retrospective study in a tertiary referral center from 2005 to 2015. Disease flare was defined as the onset of a new organ involvement or worsening of autoimmune disease within 4 weeks following RTX.

Clinical value of a [18F]-FDG PET-CT muscle-to-muscle SUV ratio for the diagnosis of active dermatomyositis.

Objective: To study a muscle-to-muscle standardised uptake value (SUV) ratio with FDG-PET/CT (FDG-PET) as a marker for the detection of disease activity in dermatomyositis (DM).

Methods: Patients with DM (n = 24) who met the European Neuro-Muscular Centre diagnostic criteria were retrospectively identified over a 3-year period through a national survey. Muscle biopsy was performed in all patients.

Large-vessel vasculitis diagnosed between 50 and 60 years: Case-control study based on 183 cases and 183 controls aged over 60 years.

Background: Age at onset of large-vessel vasculitis (LVV) is commonly used to distinguish giant cell arteritis (GCA) and Takayasu arteritis (TA). However, LVV between age 50 and 60 years may be difficult to classify.

Methods: We conducted a retrospective study including LVV aged between 50 and 60 years at onset (LVV, cases) and compared them to LVV aged over 60 years (LVV, controls).

Cogan syndrome: Characteristics, outcome and treatment in a French nationwide retrospective study and literature review.

Background: Cogan syndrome is mainly treated with steroids. We aimed to determine the place of DMARDs and biologic-targeted treatments.

Patients And Methods: We conducted a French nationwide retrospective study of patients with Cogan syndrome (n=40) and a literature review of cases (n=22) and analyzed the efficacy of disease-modifying anti-rheumatic drugs (DMARDs) and tumor necrosis factor α (TNF-α) antagonists.

Mapping and predicting mortality from systemic sclerosis.

Objectives: To determine the causes of death and risk factors in systemic sclerosis (SSc).

Methods: Between 2000 and 2011, we examined the death certificates of all French patients with SSc to determine causes of death. Then we examined causes of death and developed a score associated with all-cause mortality from the international European Scleroderma Trials and Research (EUSTAR) database.

Central nervous system involvement in eosinophilic granulomatosis with polyangiitis (Churg-Strauss): Report of 26 patients and review of the literature.

Background: Although peripheral nervous system involvement is common in eosinophilic granulomatosis with polyangiitis (EGPA), central nervous system (CNS) manifestations are poorly described. This study aimed to describe CNS involvement in EGPA.

Patients And Methods: This retrospective, observational, multicenter study included patients with EGPA and CNS involvement affecting cranial nerves, brain and/or spinal cord.

Cardiac device implantation in Fabry disease: A retrospective monocentric study.

The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD.Forty-nine patients (20M, 29F) were included.

An observational cohort study of patients with newly diagnosed digital ulcer disease secondary to systemic sclerosis registered in the EUSTAR database.

Objectives: This study describes clinical characteristics, prognostic factors, and quality of life in patients with newly diagnosed (incident) digital ulcers (DU).

Methods: Observational cohort study of 189 consecutive SSc patients with incident DU diagnosis identified from the EUSTAR database (22 centres in 10 countries). Data were collected from medical charts and during one prospective visit between 01/2004 and 09/2010.

The clinical spectrum and therapeutic management of hypocomplementemic urticarial vasculitis: data from a French nationwide study of fifty-seven patients.

Objective: Hypocomplementemic urticarial vasculitis (HUV) is an uncommon vasculitis of unknown etiology that is rarely described in the literature. We undertook this study to analyze the clinical spectrum and the therapeutic management of patients with HUV.

Methods: We conducted a French nationwide retrospective study that included 57 patients with chronic urticaria, histologic leukocytoclastic vasculitis, and hypocomplementemia.

Pericardial effusion and giant cell arteritis.

Pericardial effusion in patients with giant cell arteritis has been described in case reports. The exact prevalence of this manifestation is unknown. The objective of this study was to determine the prevalence and characteristics of pericardial effusion in patients with giant cell arteritis.

Predictors of early relapse in patients with non-infectious mixed cryoglobulinemia vasculitis: results from the French nationwide CryoVas survey.

Objective: Although in most patients induction therapy leads to complete or partial remission, relapses in patients with non-infectious mixed cryoglobulinemia vasculitis (CryoVas) remain a major problem. We aimed to identify predictors of early relapses occurring within the first 12months of treatment in such patients.

Methods: Patients included in the French CryoVas survey exhibiting complete/partial clinical remission and followed-up for at least 12months after induction therapy (n=145) were analyzed for predictors of early relapses.

Characteristics of cerebrovascular accidents at time of diagnosis in a series of 98 patients with giant cell arteritis.

The objective of this study was to determine the characteristics of cerebrovascular accidents at time of diagnosis in patients with giant cell arteritis. Retrospective data were collected from 98 patients at a single hospital with giant cell arteritis (according to the American College of Rheumatology classification criteria) diagnosed between October 1999 and January 2012. Cerebrovascular accident was found at initial presentation in 6 patients (6.

[Cogan syndrome].

Cogan's syndrome is a rare disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and audiovestibular symptoms (mainly acute-onset sensorineural hearing loss) in the setting of a negative work-up for syphilis. The diversity of the ocular and audiovestibular manifestations reported in the literature in atypical Cogan's syndrome should make one cautious before accepting the diagnosis as the disease may mimic various other systemic disorders. Systemic corticosteroids are always the most widely used and successful therapy.