Schnitzler syndrome: validation and applicability of diagnostic criteria in real-life patients.

BACKGROUND: Schnitzler syndrome is characterized by an urticarial rash, a monoclonal gammopathy, and clinical, histological, and biological signs of neutrophil-mediated inflammation. The aim of this study was to assess the applicability and validity of the existing diagnostic criteria in real-life patients. METHODS: This multicentric study was conducted between 2009 and 2014 in 14 hospitals in which patients with Schnitzler syndrome or controls with related disorders were followed up. We compared the sensitivities and specificities and calculated the positive and negative predictive values of the Lipsker and of the Strasbourg criteria for the patients with Schnitzler syndrome and for the controls. We included 42 patients with Schnitzler syndrome, 12 with adult-onset Still's disease, 7 with cryopyrin-associated periodic disease, 9 with Waldenström disease, and 10 with chronic spontaneous urticaria. RESULTS: All patients with Schnitzler syndrome met the Lipsker criteria. According to the Strasbourg criteria, 34 patients had definite Schnitzler syndrome, five had probable Schnitzler syndrome, and three did not meet the criteria. One control met the Lipsker criteria and had probable Schnitzler syndrome according to the Strasbourg criteria. Sensitivity and specificity of the Lipsker criteria were 100% and 97%, respectively. For the Strasbourg criteria, sensitivity for definite and probable diagnosis was 81% and 93%, respectively, with a corresponding specificity of 100% and 97%. CONCLUSION: Diagnostic criteria currently in use to diagnose Schnitzler syndrome are reliable. More investigations must be done to attest their efficiency in patients with recent-onset manifestations.

Off-label use of biologics for the treatment of refractory and/or relapsing granulomatosis with polyangiitis.

OBJECTIVE: To describe the efficacy and safety of off-label use of biologics for refractory and/or relapsing granulomatosis with polyangiitis (GPA). METHODS: We conducted a French retrospective study including GPA patients who received off-label biologics for refractory and/or relapsing disease after failure of conventional immunosuppressive regimens. RESULTS: Among 26 patients included, 18 received infliximab (IFX), 2 adalimumab (ADA) and 6 abatacept (ABA). Biologics were initiated in median as 4th-line therapy (IQR 3-6) for relapsing and/or refractory disease in 23 (88%) and/or significant glucocorticoid-dependency in 8 cases (31%). At biologics initiation, median (IQR) BVAS and prednisone dose in anti- TNF-α and ABA recipients were 7 (3-8) and 2 (1-6), and 20 (13-30) mg/day and 20 (15-25) mg/day, respectively. Clinical manifestations requiring biologics were mainly pulmonary and ENT manifestations in 58% each. Anti-TNF-α and ABA were continued for a median duration of 8 months (IQR 6-13) and 11 months (IQR 6-18) respectively. Anti-TNF-α recipients showed remission, partial response and treatment failure in 10%, 30% and 60% at 6 months, and 25%, 20% and 55% at 12 months, respectively. ABA recipients showed remission, partial response and treatment failure in 17%, 33% and 50% at 6 months and 17%, 33% and 50% at 12 months. One patient treated with IFX experienced life-threatening reaction while one patient treated with ABA experienced a severe infection. CONCLUSION: This real-life study suggests that off-label use of anti-TNF-α and abatacept shows efficacy in less than 50% of refractory and/or relapsing GPA.

Eight cases of fascioliasis: clinical and microbiological features.

UNLABELLED: Fascioliasis is a parasitic infection caused by the ingestion of food contaminated with Fasciola hepatica. OBJECTIVE AND DESIGN: We report an epidemic of eight cases of fascioliasis in southern France, and describe the clinical features, and the diagnostic and therapeutic tools. RESULTS: Our series includes almost every clinical form described, apart from the pseudotumoral form. Early diagnosis relied mainly on serum assays. Among these, counter-electrophoresis was the first to be positive and therefore appears to be the most useful test, including cases where patients are asymptomatic or mildly ill. Patients were treated with the usual dose of triclabendazole, but six of them required a double dose to recover. CONCLUSION: The use of 20 mg/kg triclabendazole is safe and efficient for patients with acute fascioliasis when a single dose has failed to cure them.

Arthropathy associated with anti-Jo-1 antibody.

Anti-Jo-1 antibody is associated with an overlap syndrome usually described as the association of idiopathic inflammatory myopathy, pulmonary fibrosis and polyarthritis. We report three observations illustrating different aspects of arthropathy associated with anti-Jo-1 antibody. Two patients presented with a deforming and erosive arthritis affecting the hands, periarticular calcifications and dislocation of the interphalangeal (IP) joint of the thumb. The third patient, who had a short disease course, presented only with a mild non-erosive polyarthritis of both hands, metacarpophalangeal joint narrowing and periarticular calcifications. All the patients had interstitial pulmonary syndrome. Only two of them had myositis. An arthropathy characterized by erosive arthritis of the fingers, with dislocation of the IP joint of the thumb and periarticular calcifications, seems to be specifically associated with anti-Jo-1 antibody.

[Isolated involvement of the trigeminal nerve of sarcoidosis origin]. / Atteinte isolée du nerf trijumeau d'origine sarcoïdosique.

Sarcoidosic neurological manifestations are uncommon. Isolated cranial nerve's injury is exceptional. The authors report the case of a 29 year-old woman with a trigeminal nerve tumor. Surgery and anatomopathology led to the diagnosis of sarcoidosic infiltration. No other neurological or extra-neurological localization was found. Cranial fifth nerve injury was observed in 14 cases of the literature. In all cases, trigeminal nerve injury was described as associated with another disease's localization (neurological and/or extra-neurological). This observation seems unusual due to isolated nature of the presentation and complete resolution after surgery. This case illustrated the diagnosis and nosologic difficulties raised by granulomatous lesions, symptomatic or not, in the absence of systemic localization.

[Mental deterioration and hypertension: uncommon manifestation of corticotropin insufficiency and functional carboxymethyl oxidase block]. / Détérioration intellectuelle et hypertonie: révélation inhabituelle d'une insuffisance corticotrope et d'un bloc fonctionnel en carboxyméthyl oxydase.

We report a new case of muscle contractures associated with adrenocortical deficiency. Outstanding features were the diffusion of the contractures, rhabdomyolysis and an encephalopathy which disappeared with hormonal therapy. Endocrinological investigations revealed a functional carboxymethyl oxidase type II defect which could, in part, explain our patient's neuromuscular symptoms.

[Joint manifestations and parvovorus B19 infections: 8 cases]. / Manifestations articulaires et infections à parvovirus B19: 8 observations.

Human Parvovirus B19 (PB19) may cause joint manifestations. We report eight cases of polyarthritis associated with PB19 IgM: six cases of acute polyarthritis spontaneously resolving within a few days, and two other cases suggesting that PB19 should be responsible for accutisation of chronic disease (lupus with Kikuchi's disease and HLA B27 related arthritis).

[Hematologic and immunologic manifestations of primary cytomegalovirus infections in non-immunocompromised hospitalized adults]. / Manifestations hématologiques et immunologiques de la primo-infection à cytomégalovirus chez l'adulte hospitalisé non immunodéprimé.

PURPOSE: Cytomegalovirus (CMV) infection in non-immunocompromised adults can sometimes induce hematological and immunological disorders that may mislead diagnosis. METHODS: Case reports of hospitalized non-immunocompromised adults with positive serology for CMV including the presence of immunoglobulin M or seroconversion were assessed in a retrospective study (1981-1998). We focused on clinical and biological abnormalities showing the role of CMV in disruption of functioning of hematological and immunological systems. RESULTS: Among 115 patients, lymphoma-like syndrome with large adenopathies and/or splenomegaly was diagnosed in eight patients, uncovering underlying CMV infection. Lymphoma was accompanied by hematoma in two patients. Three patients presented leg purpura (with thrombotic thrombocytopenic purpura in one case), one patient had cutaneous vasculitis and on other a Still's disease. Blood abnormalities were mononucleosis (64%), anemia (20%), and thrombopenia (25%) often of peripheral or hemolytic origin or due to hypersplenia. Electrophoresis of serum proteins showed an increase in immune globulins in 56% of the cases and monoclonal abnormality in nine cases. Immunological assessment was conducted in 18 patients. At least one abnormality was depicted in ten patients, consisting of either antinuclear, anti-platelet or anti smooth muscle antibodies, cryoglobulinemia, rheumatoid factor, or reduced complement fixation. CONCLUSION: Testing for CMV infection can be of value in case of blood or immunological disorders associated with clinical or biological signs. Although hematological disorders occur early, they are rarely severe. Immunological disorders are rarely symptomatic, but often raise issues regarding the potential genesis of immune diseases in at-risk patients.

[Emphysematous cystitis]. / Cystite emphysémateuse révélatrice d'un diabète.

The prevalence of urinary tract infection is high in patients with diabetes mellitus. The presence of gas in the bladder lumen or wall constitute emphysematous cystitis. This disease is usually observed in diabetic patients. Early diagnosis and treatment are important factors for the outcome and absence of after-effects. We report the case of a 85 Year old women who was admitted to the hospital because of a gastrointestinal bleeding and subsequently developed an emphysematous cystitis. We present a comprehensive review of the literature and discuss pathogenesis, diagnosis and treatment of this condition.

[Pneumothorax in distomatosis]. / Pneumothorax au cours d'une distomatose.

INTRODUCTION: Distomatosis is a parasite infection following ingestion of food contaminated by Fasciola hépatica, the tropism of which is essentially hepatic. The mechanism of this exceptional complication is discussed in two cases of pneumothorax. OBSERVATIONS: Two 35 and 60 year-old patients presenting spontaneous pneumothorax during distomatosis, the first revealing the disease, the second suggesting the evolution of a severe form of the disease. The surgical biopsy in the first patient revealed a granulomatous pleuro-pneumopathy rich in giant cells. DISCUSSION: Pulmonary manifestations of distomatosis are frequent during the invasive phase. Their immunoallergic origin can be questioned and emphasis should be placed on lesions secondary to aberrant parasite migrations.

[Deforming arthropathy associated with the presence of anti Jo-1 antibody in polymyositis. A new case]. / Arthropathie déformante associée à la présence de l'anticorps anti Jo-1 au cours de la polymyosite. Une nouvelle observation.

A deforming arthropathy confined to the hands developed in a woman with polymyositis of three year's duration. Roentgenograms showed distal subluxations of several fingers, especially the thumb, asymmetrical marginal erosions of the phalanges and periarticular calcifications. These roentgenographic findings are considered to be specific of polymyositis associated with anti-Jo-1 antibody.

Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.

Refractory anaemia with ring sideroblasts (RARS) and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organisation 2008 classification and has previously been shown to have a high proportion of JAK2(V617F) (Janus Kinase 2) and SF3B1 (Splicing Factor 3B subunit 1) mutations. The purpose of the present study was to analyse the frequency of SF3B1 mutations in a large cohort of 111 patients with RARS-T and 33 patients with RARS and to explore the prognostic impact of SF3B1 mutational status on RARS-T. The frequency of SF3B1 mutations in RARS-T (96/111, 86.5%) and RARS (28/33, 84.8%) was similar. In RARS-T, median survival was better in SF3B1-mutated patients than in SF3B1-non-mutated patients (6.9 and 3.3 years, respectively, P=0.003). RARS can be differentiated from RARS-T by the frequency of JAK2(V617F) (0% vs 48.6%). In RARS-T patients, SF3B1 (P=0.021) and JAK2 mutations (P=0.016) were independent factors for a better prognosis. Altogether, our results confirm that RARS-T is an independent entity that should be recognised by the next World Health Organisation classification. The assessment of SF3B1 mutations is of prognostic interest in RARS-T patients. Younger age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in RARS-T.