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Stevens–Johnson syndrome and toxic epidermal necrolysis are especially challenging to diagnose and manage in paediatric populations given their rarity, more frequent infectious triggers and lack of randomized controlled trials to guide management. This retrospective case series of 59 paediatric blistering severe cutaneous adverse reactions uses the new diagnostic classification and British Association of Dermatologists’ guidelines, and confirms their value in a real-life clinical setting.

Background Cutaneous hematologic malignancies are rare in children, and the literature about them is still sparse. Objective The purpose of our study was to report our experience with pediatric cases of cutaneous hematologic disorders and describe their clinical and histological features. Methods Data were retrospectively collected from the histopathologic database of the CHU Sainte-Justine, University of Montreal, Montreal, Canada. All patients up to 18 years of age with a diagnosis of a primary cutaneous lymphoma (including lymphomatoid papulosis), secondary cutaneous lymphoma or cutaneous manifestations of leukemia, followed from 1980 to 2019 at our center were reviewed. Results Thirty-six patients were included. Age at presentation ranged from birth to 18 years of age (mean 7.83 ± 5.16; median 7.0). Ten different hematologic disorders were identified according to the WHO-EORTC classifications: lymphomatoid papulosis (10 cases), mycosis fungoides (6 cases), anaplastic large cell lymphoma (4 cases), pre-B acute lymphoid leukemia (5 cases), primary cutaneous marginal zone B-cell lymphoma (4 cases), primary cutaneous CD4+medium T-cell lymphoproliferative disorder (1 case), extranodal NK/T-cell lymphoma (1 case), hydroa vacciniforme-like lymphoproliferative disorder (1 case), B-cell lymphoblastic lymphoma (1 case) and acute myeloid leukemia (3 cases). Conclusion The most common subtype of cutaneous hematologic disease in our single institution study was lymphomatoid papulosis (type A and type C), followed by mycosis fungoides. Recognition of this large clinical and histological spectrum by dermatologists is important because diagnosis is often established by biopsy of skin lesions, even in secondary cutaneous cases. Moreover, the clinicopathological correlation is of utmost importance for the final diagnosis of those pathologies.

There is currently little information on switching biologics in pediatric psoriasis.To evaluate the real-world clinical practice and safety of switching biologics in the "Biological Treatments for Pediatric Psoriasis" (BiPe) cohort.Data for all 134 patients included in the BiPe cohort were analyzed. A further evaluation of the subpopulation of patients who switched from a first-line biologic to a second-line biologic was then conducted. Drug survival rates were also compared between biologics given as first-line or second-line agents.Overall, 29 patients (female: 55%; mean age: 16.6 ± 3.0 years) switched between two biologics. Etanercept (ETN) was the first-line biologic used in 23 patients: 16 (69.6%) switched to adalimumab (ADA) and seven (30.4%) to ustekinumab (UST). Six patients received first-line ADA and switched to UST. Loss of efficacy (62.1%), primary inefficacy (20.7%), and parental choice (6.9%) were the main reasons for switching biologics. One (3.4%) of the switches was performed because of adverse events or intolerance. For UST and ADA, the 18-month drug survival rate did not differ according to whether the agent was given as a first-line or second-line biologic (UST: P = .24; ADA: P = .68). No significant differences in drug survival rates were observed between the three different switches (ADA to UST, ETN to ADA, and ETN to UST).Our study provided key insights into the real-life clinical practice of switching biologics in pediatric psoriasis patients. However, more information and guidance on switching biologics in pediatric psoriasis are needed to improve real-life practice and outcomes.

International audience; Pathogenic variants in the PSTPIP1 gene cause pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. They were also identified in a broad spectrum of phenotypes. As their interpretation is sometimes challenging, we discuss the genotype-phenotype association in PSTPIP1-associated autoinflammatory diseases (PAIDs) in light of a recent consensus classification of variant pathogenicity. Only 7 of 39 (18%) of the PSTPIP1 variants found in all reported cases and our national reference center (161 patients [114 probands]) were pathogenic. They were clearly associated with PAPA and PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome (PAMI), reflecting a variable clinical expression of PAIDs.

Systemic autoinflammatory diseases (SAIDs) are a group of disorders related to defective regulation of the innate immune system. Recurrence of inflammation can severely affect the patients' outcomes with a direct or indirect impact on their physical and mental health and/or global quality of life (QoL). We therefore sought to identify currently available QoL studies for these diseases as well as measurement tools at our disposal.A systematic literature review was carried out with a focus on monogenic SAIDs. We inventoried the study designs developed in the selected publications, grouped them into similar topics, and listed the different outcome measures used for QoL.We recorded 53 bibliographic references evaluating the impact of monogenic SAIDs on the patients' QoL. These publications revealed 150 different study designs and 82 outcome measures used for their assessment. The best-explored topics were the overall patients' QoL, followed by the evaluation of their psychosocial and physical functioning. We found fair coverage of familial Mediterranean fever, poor investigation of the mixed hereditary recurrent fever (HRF) group, cryopyrin-associated periodic diseases and cherubism, and almost no study of the other monogenic SAIDs.This work revealed areas requiring further investigation such as homogenization of concepts, study of uncommon or more recent diseases, and development of more specific and validated outcome measures for SAIDs.

ObjectiveTo better define the clinical distinctions between the new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-related paediatric inflammatory multisystem syndrome (PIMS) and Kawasaki disease (KD).MethodsWe compared three groups of patients: group 1, cases from our national historic KD database (KD-HIS), before the SARS-CoV-2 pandemic; group 2, patients with KD admitted to an intensive care unit (KD-ICU) from both our original cohort and the literature, before the SARS-CoV-2 pandemic; and group 3, patients with PIMS from the literature.ResultsKD-HIS included 425 patients [male:female ratio 1.3, mean age 2.8 years (s.d. 2.4)], KD-ICU 176 patients [male:female ratio 1.3, mean age 3.5 years (s.d. 3.1)] and PIMS 404 patients [male:female ratio 1.4, mean age 8.8 years (s.d. 3.7)]. As compared with KD-HIS patients, KD-ICU and PIMS patients had a higher proportion of cardiac failure, digestive and neurological signs. KD-ICU and PIMS patients also had a lower frequency of typical KD-mucocutaneous signs, lower platelet count, higher CRP and lower sodium level. As compared with KD-HIS and KD-ICU patients, PIMS patients were older and more frequently had myocarditis; they also had fewer coronary abnormalities and lower sodium levels. Unresponsiveness to IVIG was more frequent in KD-ICU than KD-HIS and PIMS patients.ConclusionOn clinical grounds, KD-HIS, KD-ICU and PIMS might belong to a common spectrum of non-specific pathogen-triggered hyperinflammatory states. The causes of increasing inflammation severity within the three entities and the different effects on the heart remain to be determined.

Clinical questionsWhat is the role of plasma exchange and what is the optimal dose of glucocorticoids in the first 6 months of therapy of patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV)? This guideline was triggered by the publication of a new randomised controlled trial.Current practiceExisting guideline recommendations vary regarding the use of plasma exchange in AAV and lack explicit recommendations regarding the tapering regimen of glucocorticoids during induction therapy.RecommendationsThe guideline panel makes a weak recommendation against plasma exchange in patients with low or low-moderate risk of developing end stage kidney disease (ESKD), and a weak recommendation in favour of plasma exchange in patients with moderate-high or high risk of developing ESKD. For patients with pulmonary haemorrhage without renal involvement, the panel suggests not using plasma exchange (weak recommendation). The panel made a strong recommendation in favour of a reduced dose rather than standard dose regimen of glucocorticoids, which involves a more rapid taper rate and lower cumulative dose during the first six months of therapy.How this guideline was createdA guideline panel including patients, a care giver, clinicians, content experts, and methodologists produced these recommendations using GRADE and in adherence with standards for trustworthy guidelines. The recommendations are based on two linked systematic reviews. The panel took an individual patient perspective in the development of recommendations.The evidenceThe systematic review of plasma exchange identified nine randomised controlled trials (RCTs) that enrolled 1060 patients with AAV. Plasma exchange probably has little or no effect on mortality or disease relapse (moderate and low certainty). Plasma exchange probably reduces the one year risk of ESKD (approximately 0.1% reduction in those with low risk, 2.1% reduction in those with low-moderate risk, 4.6% reduction in those with moderate-high risk, and 16.0% reduction in those with high risk or requiring dialysis) but increases the risk of serious infections (approximately 2.7% increase in those with low risk, 4.9% increase in those with low-moderate risk, 8.5% increase in those with moderate-high risk, to 13.5% in high risk group) at 1 year (moderate to high certainty). The guideline panel agreed that most patients with low or low-moderate risk of developing ESKD would consider the harms to outweigh the benefits, while most of those with moderate-high or high risk would consider the benefits to outweigh the harms. For patients with pulmonary haemorrhage without kidney involvement, based on indirect evidence, plasma exchange may have little or no effect on death (very low certainty) but may have an important increase in serious infections at 1 year (approximately 6.8% increase, low certainty). The systematic review of different dose regimens of glucocorticoids identified two RCTs at low risk of bias with 704 and 140 patients respectively. A reduced dose regimen of glucocorticoid probably reduces the risk of serious infections by approximately 5.9% to 12.8% and probably does not increase the risk of ESKD at the follow-up of 6 months to longer than 1 year (moderate certainty for both outcomes).Understanding the recommendationThe recommendations were made with the understanding that patients would place a high value on reduction in ESKD and less value on avoiding serious infections. The panel concluded that most (50-90%) of fully informed patients with AAV and with low or low-moderate risk of developing ESKD with or without pulmonary haemorrhage would decline plasma exchange, whereas most patients with moderate-high or high risk or requiring dialysis with or without pulmonary haemorrhage would choose to receive plasma exchange. The panel also inferred that the majority of fully informed patients with pulmonary haemorrhage without kidney involvement would decline plasma exchange and that all or almost all (≥90%) fully informed patients with AAV would choose a reduced dose regimen of glucocorticoids during the first 6 months of therapy.

To evaluate the feasibility of the autoinflammatory disease activity index (AIDAI) as a tool to assess disease activity in patients with hereditary recurrent fever syndromes (HRFs) treated with canakinumab.Patients with active colchicine-resistant familial Mediterranean fever (crFMF), mevalonate kinase deficiency (MKD), or tumor necrosis factor receptor-associated periodic syndrome (TRAPS) were enrolled in the phase III CLUSTER study and asked to complete the AIDAI questionnaire daily. All patients included in the analysis were treated with canakinumab, but regimens and periods of treatment varied per study protocol. The AIDAI for each patient was calculated weekly over the first 40 weeks of study, based on the diaries completed over 30 days. Disease-specific cut-off AIDAI values for inactive disease were calculated in a ROC analysis by comparing AIDAI scores with the occurrence of clinically inactive disease, based on the physician global assessments of disease activity and the occurrence of flares.Sixty patients with crFMF, 70 with MKD, and 43 with TRAPS were included in the analysis. Median AIDAI scores were high during the first 4 weeks for the three disease cohorts, and decreased afterwards, with some differences between disease cohorts. AIDAI values of 12.0, 9.6 and 15.5 were obtained as the most optimal thresholds to discriminate patients with inactive disease, with sensitivity and specificity values mostly over 75%.The AIDAI allows to discriminate between patients with active and inactive HRFs, and can be used in clinical practice to monitor the disease course of patients and the effect of medications.

We report 20 newborns who developed, at a median age of 7 days, large abdominal patches of radially arranged purplish telangiectasia in a bilateral and symmetrical pattern in relation to the midline, creating a "butterfly wing" pattern. Clinical examination was normal in 13 newborns, six newborns had abdominal distention, and one newborn had poor weight gain due to inadequate breastfeeding. Most lesions spontaneously resolved within 3 months and did not reoccur for 19 newborns. Transient abdominal telangiectasia of the newborn (TATN) appears to be a distinctive entity that has not been previously described.

Background A marked increase in frequency of acute acral eruptions (AAE) was observed in children during the COVID-19 pandemic in the spring period. Objectives In this observational multicenter study, based on children with AAE, we aimed to assess the proportion of household members possibly infected by SARS-CoV-2. Methods We collected data from all children observed with AAE, prospectively from April 7, 2020 to June 22, 2020, and retrospectively since February 28, 2020. The primary outcome was the household infection rate, defined as the proportion of family clusters having at least one member with COVID-19 infection other than the child with AAE (“index child”). The definition of a case was based on characteristic clinical signs and a positive PCR or serology. Results The study included 103 children in 10 French departments and in Quebec. The median age was 13 years and the interquartile range [8–15], with a female-to-male ratio of 1/1.15. In children with AAE, all PCR tests were negative (n = 18), and serology was positive in 2/14 (14.3%) cases. We found no significant anomalies in the lab results. A total of 66 of the 103 families (64.1%) of included children had at least one other infected member apart from the index child. The total number of household members was 292, of whom 119 (40.8%) were considered possibly infected by SARS-CoV-2. No index children or households exhibited severe COVID-19. Discussion Among the 103 households included, 64.1% had at least one infected member. Neither children with AAE nor their households showed severe COVID-19.

Resume Objectifs La fievre mediterraneenne familiale peut se presenter sous la forme d’atteintes musculo-squelettiques, ce qui peut la rendre difficile a differencier d'une spondylarthrite juvenile. La survenue conjointe des deux pathologies etant rarement decrite en pediatrie, l’objectif de ce travail etait de preciser l’existence d’une association ou d’un chevauchement entre fievre mediterraneenne familiale et spondylarthrite juvenile en France. Methodes Trois cohortes d’enfants, atteints de fievre mediterraneenne familiale, ou atteints de spondylarthrite juvenile, ou ayant des criteres pour les deux pathologies, ont ete identifiees retrospectivement dans le centre de reference francais des maladies auto-inflammatoires et des amyloses inflammatoires du CHU de Bicetre. La fievre mediterraneenne familiale etait definie selon les criteres de Tel Hashomer ou les criteres pediatriques turcs et la presence d’au moins un variant de l’exon 10 du gene MEFV. La spondylarthrite juvenile etait definie selon les criteres de l’ILAR. Les patients atteints de fievre mediterraneenne familiale ou de spondylarthrite juvenile ont ete compares a ceux presentant des criteres pour les deux pathologies. Resultats Seize enfants atteints de spondylarthrite juvenile associee a la fievre mediterraneenne familiale ont ete identifies. Le ratio garcon/fille etait de 0,6 et l’âge median a l’apparition de la spondylarthrite de 7,5 ans (3-16 ans). Tous presentaient au moins un variant M694V sur le gene MEFV et 16,7 % etaient porteurs de l’antigene HLA-B27. Comparativement a 83 patients atteints de fievre mediterraneenne familiale, ceux atteints de spondylarthrite juvenile associee a la fievre mediterraneenne familiale presentaient : moins de fievre (p Conclusions La fievre mediterraneenne familiale peut etre associee a un tableau classique de la spondylarthrite juvenile. Chez les enfants porteurs d’une fievre mediterraneenne familiale associee a une spondylarthrite juvenile, qui repondent moins bien a la colchicine, le diagnostic de spondylarthrite doit etre pose plus precocement pour introduire au besoin des anti-inflammatoires non steroidiens ou des anti-TNF.

Introduction Les eruptions febriles purpuriques et pustuleuses chez l’enfant soulevent un large diagnostic differentiel. Nous presentons un cas de fievre par morsure de rat chez une jeune fille. Materiel et methodes Une fille de 9 ans s’est presentee avec une fievre depuis 5 jours accompagnee de cephalees, vomissements, mal de gorge, et des arthralgies migratrices. L’examen physique a revele une eruption purpurique avec pustules au niveau des pieds et des chevilles, un œdeme de la main droite et une diminution de l’amplitude articulaire de l’epaule gauche. Un bilan sanguin incluant une formule sanguine complete, un bilan hepatique et renal ainsi qu’un bilan d’hemostase etait normal. Un questionnaire attentif a revele que la patiente avait ete mordue et griffee par son rat domestique dix jours auparavant. Compte tenu de la suspicion de fievre transmise par morsure de rat (rat bite fever), une culture a ete prelevee a partir d’une pustule du pied et deposee dans un milieu agar regulier (sang, chocolat et McConkey) ainsi que dans un bouillon trypticase soya enrichi de serum de chevaux a 10 %. Une hemoculture a egalement ete prelevee dans une bouteille sans SPS. La culture de la pustule etait positive pour le Streptobacillus moniliformis. Un traitement de penicilline G par voie intraveineuse a alors ete initie. L’evolution a ete favorable avec une resolution des lesions cutanees et de l’arthrite apres 24 h. L’echographie cardiaque etait normale. Discussion La fievre par morsure de rat, est une maladie febrile aigue causee par le S. moniliformis, un bacille Gram negatif. Il est trouve dans le microbiome du tractus respiratoire superieur des rongeurs. La transmission survient principalement suite a une morsure, une griffure ou un contact avec la salive du rat. Jusqu’a 10 % des morsures de rat conduisent a la maladie. Les symptomes de l’infection debutent brutalement apres une periode d’incubation de moins de 7 jours. Les patients se presentent avec une fievre, une arthrite migratrice, des vomissements, une pharyngite, des cephalees puis, une eruption acrale. L’element crucial du diagnostic est le contact avec un rat meme en l’absence de morsure ou de griffure. Bien que rares, les complications sont la bacteriemie, l’endocardite et la meningite. Le taux de mortalite peut atteindre jusqu’a 13 % des patients non traites. La culture de S. moniliformis est fastidieuse et necessite des milieux enrichis speciaux. Il est important de prevenir le laboratoire de microbiologie de la suspicion d’une fievre par morsure de rat puisque la plupart des milieux de culture sanguins contiennent des additifs qui inhibent la croissance de la bacterie. Le traitement de choix est la penicilline et une therapie intraveineuse devrait etre debutee immediatement chez un patient ayant eu un contact avec un rat et une presentation clinique compatible.

Children with Familial Mediterranean fever may suffer from musculoskeletal involvement, somewhat difficult to distinguish from juvenile spondyloarthritis. The association of these two diseases has been scarcely reported in children. Objective of this work was to define the association of familial Mediterranean fever and juvenile spondyloarthritis in France.Three cohorts of children with familial Mediterranean fever, juvenile spondyloarthritis, familial Mediterranean fever related juvenile spondyloarthritis, were retrospectively identified in the French reference center of auto-inflammatory diseases. Familial Mediterranean fever was defined according to Tel-Hashomer or Turkish pediatric criteria with at least one exon-10 MEFV-gene mutation. Juvenile spondyloarthritis was defined according to ILAR criteria. Patients with familial Mediterranean fever or juvenile spondyloarthritis were respectively compared to familial Mediterranean fever related juvenile spondyloarthritis patients.Sixteen children were identified as having familial Mediterranean fever related juvenile spondyloarthritis. The male/female-ratio was 0.6, with median age at spondyloarthritis onset of 7.5years (3-16years). All carried at least one M694V variant in MEFV gene; 16.7% were HLA-B27-carriers. Compared to 83 familial Mediterranean fever patients, familial Mediterranean fever related juvenile spondyloarthritis patients had less frequently fever (P0.01) and more frequently arthritis (P0.05), enthesitis (P0.001), inflammatory back pain (P0.001), inadequate response to colchicine (P0.05). Compared to 20 juvenile spondyloarthritis patients, familial Mediterranean fever related juvenile spondyloarthritis patients less often received non-steroidal anti-inflammatory drugs (P0.01) and anti-tumor necrosis factor drugs (P0.001).Familial Mediterranean fever may be associated with typical pattern of juvenile spondyloarthritis. These patients, with less response to colchicine, should be diagnosed earlier and treated as for jSpA.

Behçet’s disease (BD) is a systemic variable vessel vasculitis that involves the skin, mucosa, joints, eyes, arteries, veins, nervous system and gastrointestinal system, presenting with remissions and exacerbations. It is a multifactorial disease, and several triggering factors including oral cavity infections and viruses may induce inflammatory attacks in genetically susceptible individuals. BD vasculitis involves different vessel types and sizes of the vascular tree with mixed-cellular perivascular infiltrates and is often complicated by recurrent thrombosis, particularly in the venous compartment. Several new therapeutic modalities with different mechanisms of action have been studied in patients with BD. A substantial amount of new data have been published on the management of BD, especially with biologics, over the last years. These important therapeutic advances in BD have led us to propose French recommendations for the management of Behçet’s disease [Protocole National de Diagnostic et de Soins de la maladie de Behçet (PNDS)]. These recommendations are divided into two parts: (1) the diagnostic process and initial assessment; (2) the therapeutic management. Thirty key points summarize the essence of the recommendations. We highlighted the main differential diagnosis of BD according to the type of clinical involvement; the role of genetics is also discussed, and we indicate the clinical presentations that must lead to the search for a genetic cause.

About 10–20% of patients with Kawasaki disease (KD) are unresponsive to intravenous immunoglobulin (IVIg) and are at increased risk of coronary artery abnormalities (CAAs). Early identification is critical to initiate aggressive therapies, but available scoring systems lack sensitivity in non-Japanese populations. We investigated the accuracy of 3 Japanese scoring systems and studied factors associated with IVIg unresponsiveness in a large multiethnic French population of children with KD to build a new scoring system. Children admitted for KD between 2011–2014 in 65 centers were enrolled. Factors associated with second line-treatment; i.e. unresponsiveness to initial IVIg treatment, were analyzed by multivariate regression analysis. The performance of our score and the Kobayashi, Egami and Sano scores were compared in our population and in ethnic subgroups. Overall, 465 children were reported by 84 physicians; 425 were classified with KD (55% European Caucasian, 12% North African/Middle Eastern, 10% African/Afro-Caribbean, 3% Asian and 11% mixed). Eighty patients (23%) needed second-line treatment. Japanese scores had poor performance in our whole population (sensitivity 14–61%). On multivariate regression analysis, predictors of secondary treatment after initial IVIG were hepatomegaly, ALT level ≥30 IU/L, lymphocyte count 3 and time to treatment

Summary Background Systemic lupus erythematosus (SLE) is a rare immunological disorder and genetic factors are considered important in its causation. Monogenic lupus has been associated with around 30 genotypes in humans and 60 in mice, while genome-wide association studies have identified more than 90 risk loci. We aimed to analyse the contribution of rare and predicted pathogenic gene variants in a population of unselected cases of childhood-onset SLE. Methods For this genetic panel analysis we designed a next-generation sequencing panel comprising 147 genes, including all known lupus-causing genes in humans, and potentially lupus-causing genes identified through GWAS and animal models. We screened 117 probands fulfilling American College of Rheumatology (ACR) criteria for SLE, ascertained through British and French cohorts of childhood-onset SLE, and compared these data with those of 791 ethnically matched controls from the 1000 Genomes Project and 574 controls from the FREX Consortium. Findings After filtering, mendelian genotypes were confirmed in eight probands, involving variants in C1QA, C1QC, C2, DNASE1L3, and IKZF1. Seven additional patients carried heterozygous variants in complement or type I interferon-associated autosomal recessive genes, with decreased concentrations of the encoded proteins C3 and C9 recorded in two patients. Rare variants that were predicted to be damaging were significantly enriched in the childhood-onset SLE cohort compared with controls; 25% of SLE probands versus 5% of controls were identified to harbour at least one rare, predicted damaging variant (p=2·98 × 10−11). Inborn errors of immunity were estimated to account for 7% of cases of childhood-onset SLE, with defects in innate immunity representing the main monogenic contribution. Interpretation An accumulation of rare variants that are predicted to be damaging in SLE-associated genes might contribute to disease expression and clinical heterogeneity. Funding European Research Council.

Auto-inflammatory diseases are characterized by unexplained and recurrent attacks of systemic inflammation often involving the skin, joints, or serosal membranes. They are due to a dysfunction or dysregulation of the innate immunity, which is the first line of defense against pathogens. Early recognition of these diseases by the clinician, especially by pediatricians encountering such pathologies in pediatric patients, is primordial to avoid complications. Skin manifestations, common in most auto-inflammatory diseases, are helpful for prompt diagnosis. After a brief physiopathological review, we will describe auto-inflammatory recurrent fevers by their main dermatological presentations: urticarial lesions, neutrophilic dermatoses, panniculitis, other maculopapular eruptions, dyskeratosis, skin vasculitis, and oral aphthous. We finally suggest a decision tree to help clinicians better target genetic exams in patients with recurrent fevers and dermatological manifestations.

Introduction Certains patients psoriasiques ne repondent pas a une premiere biotherapie (1). Le changement therapeutique peut etre une option therapeutique pour ces patients. Peu de donnees sont disponibles sur le switch de biotherapies dans le psoriasis de l’enfant. Evaluer la pratique clinique, l’efficience et la tolerance en vie courante du switch de biotherapie dans une cohorte retrospective sur les biotherapies dans le psoriasis de l’enfant (BiPe). Materiel et methodes Les donnees des 134 patients inclus dans la cohorte BiPe ont ete analysees. Une evaluation de la sous-population de patients ayant switche d’une premiere a une deuxieme biotherapie a ensuite ete effectuee. Les taux de survie des biotherapies ont egalement ete compares entre les biotherapies administres comme agents de premiere ou de deuxieme ligne. Resultats Au total, 29 enfants (filles : 55 % ; âge moyenne : 16,6 ± 3,0 ans) ont recu deux biotherapies. L’etanercept (ETN) etait la biotherapie de 1re ligne utilisee chez 23 enfants : 16 (69,6 %) sont passes a l’adalimumab (ADA) et sept (30,4 %) a l’ustekinumab (UST). Six enfants ont recu l’ADA en 1re ligne et sont passes a l’UST. Les principales raisons etaient la perte d’efficacite (62,1 %), l’inefficacite primaire (20,7 %) et le choix du parent (6,9 %). Un switch (3,4 %) a ete effectue en raison d’evenements indesirables ou d’intolerance. Pour l’UST et l’ADA, le taux de survie de la biotherapie a 18 mois ne differait pas selon que l’agent etait administre en tant que biotherapie de 1re ou de 2e intention (UST : p = 0,24 ; ADA : p = 0,68). Aucune difference significative dans les taux de survie des biotherapies n’a ete observee entre les trois differents switchs (ADA a UST, ETN a ADA, et ETN a UST). Aucun evenement indesirable grave n’a ete note apres les switchs. Discussion Notre etude a permis de fournir des informations importantes sur le switch de biotherapies en vie courante chez les patients atteints de psoriasis pediatrique. Il n’y a pas de perte d’efficacite notable du traitement donne en 2e intention, et la tolerance parait excellente. Cependant, plus d’informations sont necessaires afin d’ameliorer les pratiques en vie courante et pour confirmer ces resultats.

Resume Objectif L’etude des formes pediatriques de lupus erythemateux systemique (LES) a permis recemment l’identification de formes monogeniques de LES. L’objectif principal de cette etude est de decrire les premiers patients inclus dans l’etude GENIAL/LUMUGENE et les comparer aux donnees de la litterature. L’objectif secondaire est d’identifier les patients a plus forte composante genetique sur une base clinico-biologique. Methodes L’etude GENIAL/LUMUGENE est une etude nationale clinique, immunologique et genetique des lupus a debut pediatrique ( clinical trial : NCT01992666 ). Les 64 premiers patients âges de moins de 18 ans inclus dans ce premier volet de l’etude ont fait l’objet d’un recueil retrospectif des donnees clinico-biologiques. Les sous-groupes ont ete determines a priori et definissent : (1) les lupus syndromiques ( n = 10), (2) les lupus familiaux ( n = 12) et (3) les autres formes de lupus precoces ( n = 42). Resultats La constitution de groupes de patients, a priori, sur la base des connaissances des signes cliniques ou epidemiologiques des lupus monogeniques identifie d’une part un âge au debut plus precoce dans les formes syndromiques ( p Conclusions Cette etude ne permet pas, sur la base des donnees cliniques et epidemiologiques seules, de determiner un sous-groupe de patient partageant une presentation ou une evolution commune. Cette observation peut etre liee au faible effectif ou temoigner de la grande heterogeneite des lupus juveniles. L’analyse de ces patients par les nouvelles techniques de sequencage pourrait identifier des elements de l’heredite responsable de cette variabilite importante.

Objectives The aim was to describe the epidemiological characteristics of childhood IgA vasculitis (IgAV) defined by the EULAR/PRINTO/Paediatric Rheumatology European Society criteria in a population-based sample from France and ascertain its incidence over 3 years by a four-source capture-recapture analysis. Methods Cases were prospectively collected in Val de Marne county, a suburb of Paris, with 263 874 residents

International audience; Background Our suggested 'modern' concepts of 'neutrophilic dermatoses' (ND) and 'neutrophilic disease' were based on observations in adult patients and have not been studied in paediatric patients. Only a minority of ND occurs in children, and little is known about age-specific characteristics. Objectives To describe age-specific characteristics of ND in children and to study whether our suggested 'modern' classification of ND may be applied to children. Methods We conducted a retrospective multicentre study in a French cohort of 27 paediatric patients diagnosed with pyoderma gangrenosum (PG) or Sweet's syndrome (SS). Results Demographics and distribution of typical/atypical forms were similar in patients diagnosed with PG and SS. Atypical ND were more frequent in infants (90%), when compared to young children (60%) and adolescents (33%). Neutrophilic disease was observed in 17/27 patients and was most frequent in infants. Neutrophilic disease of the upper respiratory tract, as well as cardiac neutrophilic disease, was only observed in infants, whereas other locations were similarly found in infants, young children and adolescents. In infants and young children, ND were associated with a large spectrum of general diseases, whereas in adolescents associations were limited to inflammatory bowel disease and Behcet's disease. Conclusions Our study describes the concept of ND in paediatric patients and shows that they have some characteristics different from ND occurring in adults. ND occurring in infants can be associated with a large spectrum of general diseases. Occurrence of neutrophilic disease is frequent in children. Thus, ND occurring in young paediatric patients should incite clinicians to schedule complementary explorations in order to search for involvement of other organs and to rule out monogenetic autoinflammatory syndromes.

Systemic inflammation in autoinflammatory diseases can affect nearly all organ systems and hampers patients in their daily life. Ongoing inflammation can lead to irreversible organ damage, such as amyloidosis. Structural assessment of disease activity, damage, quality of life and adherence to therapy is therefore important in the follow-up of these patients. To guide physicians in the monitoring of patients and to unify outcome measures in therapeutic studies, scoring forms for disease activity (AutoInflammatory Disease Activity Index, AIDAI), disease damage (Autoinflammatory Disease Damage Index, ADDI) and patient reported outcomes (Juvenile Autoinflammatory Disease Multidimensional Assessment Report, JAIMAR) have been developed. In addition, an international group of experts developed recommendations for the management of autoinflammatory diseases. The aim of this chapter is to provide an overview of the important aspects of monitoring disease activity, to describe potential organ damage and to elaborate on the validated scoring systems, focusing on the four main monogenic diseases; familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency (MKD) and TNF-receptor associated periodic syndrome (TRAPS).

Introduction Les enfants semblent developper des manifestations systemiques moins frequentes et moins severes que l’adulte, et etre moins contaminants. Une augmentation inedite des eruptions acrales aigues a ete observee durant la periode de circulation intense du virus. Notre objectif a ete de determiner le degre de contamination intrafamiliale lorsqu’un cas pediatrique avec acrosyndrome aigu etait identifie, d’estimer la gravite de l’atteinte familiale dans ces situations, et de decrire les caracteristiques cliniques, biologiques, microbiologiques de ces manifestations chez l’enfant. Materiel et methodes Cette etude observationnelle multicentrique francophone (France et Quebec) a ete menee par les membres du GRSFDP de fevrier a mai 2020. Tous les enfants ( Resultats L’etude a inclus, dans 10 departements francais et le Quebec, 103 enfants de 11,1 ans en moyenne (ecart-type 5,2), dont 55 garcons (53,4 %), pour un nombre d’individus, au sein de tous les clusters familiaux, de 291 personnes (hors cas index). Parmi eux, 119 ont ete consideres comme ayant ete infectes par le SARS-Cov-2, soit 40,9 %. Tous avaient moins de 60 ans. Aucun n’a developpe de forme severe justifiant l’hospitalisation, notamment de syndrome inflammatoire multisystemique pediatrique. Les acrosyndromes aigus comprenaient : pseudo-engelures (79,6 %), erytheme palmo-plantaire (40,8 %), vesicules/bulles (18,4 %), œdeme acral (13,6 %), acrocyanose (12,6 %), hyperhidrose (9,7 %), purpura (8,7 %), pulpite seche (6,8 %), acrorhigose (6,8 %), hidradenite eccrine (5,8 %), telangiectasies (3,9 %), cocardes distales (2,9 %), acrocholose (2,9 %), papules (1,9 %). L’eruption atteignait les mains (14,7 %), les pieds (15,7 %), ou les deux (53,4 %). Des eruptions cutanees diffuses etaient associees dans 1,6 % des cas. A un mois de la consultation, 50,7 % des acrosyndromes aigus avaient entierement regresse, dans un delai median rapporte de 55 jours. Biologiquement, les examens standards, les marqueurs d’inflammation et de coagulation (D-Dimeres) etaient normaux ou a peine significativement augmentes. La serologie SARS-Cov-2 etait positive (IgG) dans 2 cas sur 14, et la PCR toujours negative (n = 18). Discussion Les acrosyndromes aigus pediatriques sont polymorphes, et sont associes a la presence de cas possibles de Covid-19 dans la cellule familiale dans 40,9 % des cas. Ils pourraient etre un marqueur de circulation du SARS-Cov-2. Ces enfants et leur entourage n’ont pas ete atteints de formes graves dans notre etude.

Background/Objectives Little information is available on the prevalence and clinical aspects of nail involvement in children with psoriasis. The objective of this study was to evaluate the prevalence and clinical aspects of and the risk factors for nail involvement in French children with psoriasis. Methods We performed a multicenter, cross-sectional study in 23 French dermatology centers. All children seen during the 1-year study were systematically included. Clinical features of the nails were collected. Association with clinical aspects of the disease and comorbidities were evaluated. Results Of 313 children with psoriasis (mean age 9.1 ± 4.2 yrs; 149 boys, 164 girls), 31.1% had familial psoriasis and 30% had severe psoriasis. The mean age at onset was 6.1 ± 3.7 years. Nails were involved in 32.3% of children. The main clinical aspects were pitting (69.1%) for fingernails and onycholysis (40.0%) and pachyonychia (27.5%) for toenails. All of the fingers were involved at similar frequencies, whereas the big toe was involved twice as often as the others (p < 0.005). Nail involvement was associated with male sex (p < 0.001), palmoplantar psoriatic (p < 0.001), severity of disease (p = 0.003), and psoriatic arthritis (p = 0.03). Conclusion The prevalence of nail involvement was 32.3% in children with psoriasis. Clinical aspects in children are reported, as well as clinical associations. As in adults, nail psoriasis is closely associated with psoriatic arthritis.

Resume Introduction La prevalence du psoriasis chez l’enfant est evaluee entre 0,4 % et 0,7 %. Les caracteristiques cliniques dans l’enfance varient en fonction de l’âge. L’objectif de cette etude etait d’evaluer l’aspect clinique du psoriasis en fonction de l’âge et du sexe de l’enfant. Patients et methode Il s’agissait d’une etude transversale multicentrique d’une cohorte d’enfants atteints de psoriasis. Les investigateurs etaient membres du Groupe de recherche de la Societe francaise de dermatologie pediatrique. L’etude a ete menee d’avril 2012 a mars 2013. Les criteres d’inclusion etaient un âge inferieur a 18 ans et un diagnostic de psoriasis clinique pose par un dermatopediatre. Les enfants etaient classes en 3 groupes selon leur âge : nourrissons : Resultats Trois cent treize enfants ont ete inclus. Il s’agissait de 27 (8,6 %) nourrissons, 207 (66,1 %) enfants et 79 (25,2 %) adolescents. Le psoriasis en plaques etait le type le plus represente chez les enfants et les adolescents (41,5 % et 48,1 %, respectivement), mais ne representait que 25,9 % des psoriasis du nourrisson (p Discussion Le psoriasis en plaques etait la forme la plus frequente de psoriasis chez l’enfant mais touchait moins d’un patient sur deux. L’âge avait un impact important sur les atteintes cutanees et extra-cutanees, ainsi que sur les therapeutiques utilisees, alors que le sexe avait peu d’impact. La frequence des comorbidites variait peu avec l’âge. Conclusion Le psoriasis de l’enfant presente donc des caracteristiques propres dependantes de l’âge. Les resultats d’etudes dediees a l’adulte ne peuvent etre extrapoles a l’enfant.

Resume Le deficit en mevalonate kinase (MKD) est une maladie auto-inflammatoire autosomique recessive causee par des mutations du gene MVK . Le MKD est une maladie tres rare, et de ce fait de nombreuses erreurs de diagnostic et de recommandations medicales peuvent preceder le diagnostic, ce qui rend cette maladie encore plus lourde. Objectifs Evaluer les recommandations medicales entre le premier symptome et le diagnostic de MKD, ainsi que le retard de diagnostic. Methodes Un questionnaire a ete envoye a des rhumatologues francais, dont des rhumatologues pediatriques, afin de recueillir des informations retrospectives provenant de patients pour lesquels une analyse genetique avait confirme le MKD. Ces informations incluaient les premiers symptomes de la maladie, les differents diagnostics effectues precedemment, les traitements recus et la lourdeur de la maladie principalement evaluee par le nombre d’hospitalisations. Resultats Treize patients ont ete analyses. L’âge moyen du debut de la maladie etait de 9,5 mois (de la naissance a 36 mois). Le retard moyen du diagnostic etait de 7,1 annees. Onze d’entre eux avaient ete hospitalises au moins 5 fois avant le diagnostic. Une grande variete de maladies a ete suspectee : l’arthrite juvenile idiopathique de type systemique, le syndrome de fievre periodique–stomatite aphteuse–pharyngite–adenopathie, les autres fievres recurrentes hereditaires, une vascularite, une maladie du tissu conjonctif, une maladie intestinale inflammatoire, une gastrite, une immunodeficience et les infections. Avant le diagnostic, neuf patients avaient recu des corticosteroides et 6 patients avaient recu des anti-inflammatoires non steroidiens. La moitie des patients avaient recu des antibiotiques de facon repetee, un tiers avait recu des immunoglobulines intraveineuses et les autres avaient ete traites par des immunosuppresseurs ou de l’hydroxychloroquine. Conclusions Le MKD est une maladie grave encore difficile a traiter. Cependant, un recours a un centre de reference precocement accompagne de soins, pouvant etre obtenus par une sensibilisation des medecins, est essentiel pour ameliorer a la fois le cadre et la qualite de vie des patients.

Recurrent fevers are defined as multiple stereotypical febrile episodes separated by spontaneous symptom-free intervals and occurring for months and years. Hereditary recurrent fevers are rare prototype Mendelian diseases due to inherited mutations in genes encoding partners of the innate immunity. Recurrent episodes of fever plus acute features of inflammation starting during childhood with family history are the main clues for suspecting HRF. Their common associated complication is AA amyloidosis. The diagnosis is made on clinical grounds but the genetic diagnosis may contribute in most cases of monogenic hereditary recurrent fevers. Recurrent fevers must be distinguished from intermittent fevers, mostly infectious, characterized by variation in associated symptoms from episode-to-episode and without periodicity.

Linear cutaneous lupus erythematosus is an unusual presentation of cutaneous lupus following Blaschko’s lines. It is described mostly in children and young adults and is usually not associated with systemic involvement. We report two cases of linear cutaneous lupus erythematosus in children who significantly improved after treatment with hydroxychloroquine in combination with topical corticosteroids and tacrolimus. These rare cases underline the importance of including linear cutaneous lupus erythematosus in the differential diagnosis of blaschkoid inflammatory lesions.

BACKGROUND AND OBJECTIVES: Immunoglobulin A vasculitis (IgAV) might develop after vaccination. However, this potential relationship is essentially based on case reports, and robust pharmaco-epidemiologic data are scarce. We aimed to investigate the effect of vaccination on short-term risk of IgAV in children. METHODS: We enrolled children RESULTS: Among 167 children (mean age: 6.7 years) enrolled, 42 (25%) received ≥1 vaccine during the year before IgAV onset. Fifteen (9%) children were vaccinated during the 3-month index period as compared with 4% to 7% during the 3 control periods. The OR for IgAV occurring within the 3 months after vaccination was 1.6 (95% CI: 0.8–3.0). Analyses of IgAV risk within 1, 1.5, or 2 months of vaccination yielded ORs of 1.4 (95% CI: 0.5–3.5), 1.4 (95% CI: 0.6–3.2), and 1.3 (95% CI: 0.6–2.6), respectively. Stratifications revealed no significant association. CONCLUSIONS: Vaccination may not be a major etiological factor of childhood IgAV.

IF 1,051 (2018); International audience; Background. - Little information is available on the prevalence and clinical aspects of tongue involvement in children with psoriasis. The aim was to evaluate the prevalence, clinical aspects and risk factors concerning tongue involvement in children with psoriasis.Patients and methods. - This study was carried out in two stages. We performed a multicentre, cross-sectional study in 23 French dermatology centers. All children seen for psoriasis during the one-year study were systematically included. The clinical features of the tongue and of psoriasis were recorded. Association with clinical aspects of psoriasis and comorbidities was evaluated. We then carried out a literature review to evaluate the prevalence of tongue involvement in children with psoriasis and its positive predictive value for psoriasis. A search was conducted in the PUBMED database using the following keywords: "child'' and "psoriasis'' and ("tongue'' or "glossitis'' or "migratory glossitis'' or "benign migratory glossitis'' or "geographic tongue'' or "fissured tongue'').Results. - 7.7% of the 313 children with psoriasis had tongue involvement. The clinical aspects were geographic tongue (4.2%), fissured tongue (2.8%) and both (0.64%). There was no association between tongue involvement and the clinical characteristics of the children. Two hundred and ninety-five articles were referenced and 3 were analysed. Psoriasis is very rare in cases of tongue abnormalities.Conclusion. - The prevalence of tongue involvement was 7.7% in children with psoriasis. No clinical or epidemiological association was shown. Tongue involvement does not modify the management of psoriasis. In the literature review it was not possible to evaluate either the prevalence of tongue involvement in psoriasis or the positive predictive value thereof.; IntroductionIl y a peu d’informations dans la littérature sur les atteintes de la langue au cours du psoriasis de l’enfant. L’objectif était d’évaluer la fréquence, les aspects cliniques et les facteurs de risque d’atteinte linguale chez les enfants psoriasiques.Patients et méthodesCe travail a été effectué en deux étapes : (1) une étude transversale a été menée dans 23 centres dermatologiques français, notant les aspects cliniques de la langue et du psoriasis chez les enfants atteints de psoriasis, ainsi que les associations et les comorbidités ; (2) une revue systématique de la littérature a ensuite été effectuée afin d’évaluer la prévalence l’atteinte linguale chez l’enfant et sa valeur prédictive du psoriasis. Une recherche a été réalisée en interrogeant la base de données PUBMED. Les mots clés saisis étaient : « child » et « psoriasis » et (« tongue » ou « glossitis » ou « migratory glossitis » ou « benign migratory glossitis » ou « geographic tongue » ou « fissured tongue »).Résultats(1) Parmi 313 enfants atteints de psoriasis 7,7 % présentaient une atteinte linguale sous forme de langue géographique (4,2 %), langue fissurée (2,8 %) ou les deux (0,6 %). L’atteinte linguale n’était associée à aucune particularité démographique ou clinique, ni aucune comorbidité. (2) Parmi 295 articles référencés, 3 ont finalement été retenus. Le psoriasis reste très rare en cas d’anomalie linguale.ConclusionLa prévalence de l’atteinte linguale chez les enfants psoriasiques était de 7,7 %. Aucune association clinique ou épidémiologique n’a été montrée. L’atteinte linguale ne modifie pas la prise en charge du psoriasis. La revue systématique de la littérature ne permettait pas d’évaluer une prévalence de l’atteinte linguale dans le psoriasis ni la valeur prédictive positive de cette atteinte.

Background Conventionally, PFAPA syndrome is considered as a benign disease compared to other recurrent fevers because it completely passes before adulthood. However, in our clinical practice, fever episodes have a huge impact on daily activities. Methods Observational cohort study using the Pediatric Quality of Life Inventory (PedsQL™ 4.0) Generic Core and Fatigue Scales. PedsQL™ uses a modular approach to measure the HRQOL in children with acute and chronic health conditions. We used pediatric FMF patients as the control group. Results We included 33 children with PFAPA and compared them to 27 FMF patients matched for age: preschool-age children (2 to 7 years) and school-age children and youths (8 to18 years). PedsQL™ self-reported scores of children with PFAPA were systematically lower than those of FMF peers for general quality of life and physical and psychosocial functioning (significant only in the preschool-age group). PedsQL™ self-reported fatigue scores of children with PFAPA were significantly lower than those of FMF peers for both preschoolers and school-age children and youths. Parent proxy-reports were not significantly different, even though scores were systematically lower for the parents of PFAPA children. Conclusion Our study demonstrates, for the first time, that the wellbeing of PFAPA children is poor, with a major impact on psychosocial functioning and increased fatigue. The quality of life of PFAPA children appears to be even lower than that of FMF patients, for whom a lower than normal HRQOL has already been demonstrated.

International audience

We read with interest the letter from Bonekamp et al 1 reporting two children with severe deficiency of interleukin-36 receptor antagonist (DITRA) treated with high dose of Ustekinumab. DITRA, an autosomal recessive disease caused by mutations of IL36RN , is characterised by generalised pustular psoriasis and systemic inflammation.2 We report here a paediatric case successfully treated with standard dose of Ustekinumab, a monoclonal antibody against the p40 subunit of interleukin (IL)-12/IL-23. We reported in 2015 a boy born from consanguineous Tunisian parents who presented at 1 month of life with diffuse inflammatory pustular psoriasis and erythrodermic extension.3 At the age of 2 months, he was referred to us with fever, irritability, severe failure to thrive and …

Introduction Le psoriasis affecte 0,5 a 0,7 % des enfants en Europe. Les cas severes peuvent necessiter des traitements systemiques conventionnels ou des biotherapies. Trois biotherapies : l’etanercept (ETC), l’adalimumab (ADA) et l’ustekinumab (UST) sont autorisees dans le psoriasis de l’enfant. Dans cette etude multicentrique, nous avons evalue le taux de maintien des biotherapies chez les enfants. Les objectifs secondaires etaient : profil des enfants a l’inclusion, evaluation des evenements indesirables graves (EIG). Materiel et methodes Nous avons realise une etude multicentrique retrospective par appel a cas incluant tous les enfants atteints de psoriasis, ayant recu au moins une injection de biotherapie parmi ETC, ADA et UST avant l’âge de 18 ans. Les donnees sociodemographiques et concernant le psoriasis et les biotherapies prescrites ont ete recueillies. Resultats Cent trente-cinq enfants ont ete inclus dont 85 filles (62,9 %) d’un âge moyen de 15,6 ± 4,2 ans ; 13 enfants (11,7 %) etaient obeses. L’âge d’apparition du psoriasis etait de 7,2 ± 4,0 ans ; 40 (30,1 %) enfants avaient un psoriasis familial. Le type clinique predominant etait le psoriasis en plaques (n = 90 ; 66,7 %). Le PGA moyen etait de 3,5 ± 0,9 et le PASI de 14,5 ± 11,0. Cent quatre-vingt-quatre lignes de biotherapies ont ete rapportees. L’âge moyen de debut de la 1re biotherapie etait de 13,2 ± 3,5 ans. La biotherapie la plus prescrite etait l’ETN (n = 70, 1re ligne pour 63 patients), suivie de l’ADA (n = 68, 1re ligne pour 44), puis de l’UST (n = 46, 1re ligne pour 27). Le taux de maintien sur 2 ans etait significativement meilleur pour l’UST en comparaison avec l’ADA et l’ETN (p ≤ 0,0001) ( Fig. 1a ), avec des resultats comparables pour les analyses limitees aux psoriasis en plaques ( Fig. 1b , p = 0,0003) et aux 1res lignes ( Fig. 1c , p = 0,007) ou 2–4es lignes de biotherapie ( Fig. 1d , p = 0,07). Les causes d’arret des biotherapies sont representees dans le Tableau 1 . En dehors de l’âge de l’enfant plus eleve dans le groupe UST, aucun parametre n’etait significatif entre les groupes d’enfants a l’introduction de la 1re biotherapie. Huit enfants ont eu des EIG : grippe severe, poussee generalisee de psoriasis, varicelle severe, paralysie faciale ou hemiparesie transitoires, et prise de poids (n = 2) sous ADA ; un zona sous UST. Discussion Les biotherapies sont maintenant largement prescrites dans le psoriasis severe de l’enfant. Les resultats de cette etude permettent d’evaluer, en vie courante, les caracteristiques des enfants psoriasiques traites par biotherapies, et les taux de maintien qui sont significativement differents selon la biotherapie (meilleur pour l’UST en comparaison avec l’ADA et l’ETN). Enfin, nous soulignons les EIG developpes sous biotherapie chez l’enfant, avec un profil voisin de ceux de l’adulte : infection severes et prise de poids sous anti-TNF alpha, imposant la meme vigilance et les memes mesures de prevention que chez l’adulte.

Mevalonate kinase deficiency (MKD) is an autosomic recessive auto-inflammatory disease caused by mutations of the MVK gene. MKD being a very rare disease, numerous misdiagnoses and medical referrals may precede the right diagnosis, amplifying the burden of the disease. Objectives To evaluate the patient's medical referrals between the first symptom and the diagnosis of MKD and the diagnosis delay. Methods A questionnaire was sent to French paediatric and adult rheumatologists to retrospectively collect information from genetically confirmed patients with MKD regarding the first symptoms of the disease, the different diagnoses made previously, the treatments received, and the disease burden evaluated mainly by the number of hospitalizations. Results Thirteen patients were analyzed. The mean age at onset was 9.5 months (birth to 36 months). The average diagnosis delay was 7.1 years. Eleven of them were hospitalized at least 5 times before the establishment of the diagnosis. A wide variety of diseases had been suspected: systemic juvenile idiopathic arthritis, periodic fever aphtous stomatitis pharyngitis adenitis syndrome, other hereditary recurrent fever, vasculitis, connective tissue disease, inflammatory bowel disease, gastritis, infections and immunodeficiency. Before the right diagnosis, 9 patients received corticosteroids and 6 patients received non-steroidal-anti-inflammatory drugs. Half patients had received repeated antibiotics, one third had received intravenous immunoglobulin, and the others were treated with immunosuppressive drugs or hydroxychloroquine. Conclusions MKD is a serious disease still difficult to treat, however earlier accurate medical referral and care, by increasing physicians’ awareness, is critical to improve both the disease course and quality of life.

Background Henoch-Schonlein purpura, more recently renamed immunoglobulin A vasculitis (IgAV), is a systemic vasculitis characterized by IgA deposits. The current markers used to assess IgAV inaccurately evaluate the risk of nephritis occurrence and its long-term outcomes. The current study assessed biomarkers of nephritis outcomes. Methods This French multicentre prospective study enrolled 85 adult patients at the time of disease onset. Patients were assessed for clinical and biological parameters and re-examined after 1 year. Immunoglobulins, cytokines, IgA glycosylation, IgA complexes and neutrophil gelatinase-associated lipocalin (NGAL) concentrations were assessed in blood and urine. Results We identified 60 patients with IgAV-related nephritis (IgAV-N) and 25 patients without nephritis (IgAV-woN). At the time of inclusion (Day 1), the serum levels of galactose-deficient IgA1 (Gd-IgA1) and urinary concentrations of IgA, IgG, IgM, NGAL, interleukin (IL)-1β, IL-6, IL-8, IL-10, IgA-IgG and IgA-sCD89 complexes were higher in the IgAV-N patients than in the IgAV-woN patients (P

Bruises and hematomas are the most well-known signs of abuse. The non-accidental nature of cutaneous lesions can be determined based on ananalysis of the child’s age, the location of the bruise, and the circumstances reported by the family.

Background AIDAI is a novel validated tool for assessment of disease activity in autoinflammatory diseases. 1 CLUSTER study (NCT02059291) demonstrated that canakinumab (CAN; an anti- IL-1β antibody) is efficacious in resolving active flare and in preventing new flare in patients (pts) with colchicine resistant familial Mediterranean fever (crFMF), hyper-IgD syndrome/mevalonate kinase deficiency (HIDS/MKD) and TNF receptor-associated periodic syndrome (TRAPS). 2 Objectives To assess AIDAI score and evaluate correlation between AIDAI and disease/response characteristics over 16 weeks (wks) of CAN treatment in CLUSTER. Methods CLUSTER study design and results have been presented. 2 AIDAI was calculated as the sum of 12 items 1 for 30 consecutive days. AIDAI score was calculated if the first score was recorded ≥29 days before baseline (BL). Missing items were imputed beyond last evaluable measurement by LOCF. Proportion of pts with inactive disease (ID; AIDAI score Results Median AIDAI scores decreased over time (Fig 1). Proportion of pts with ID at Wk 16 was 52% in crFMF, 40% in HIDS/MKD and 46% in TRAPS cohorts. AIDAI at Wk 16 correlated significantly with: SDS in all 3 cohorts; PGA in HIDS/MKD and TRAPS; SF12–MCS in crFMF and HIDS/MKD (Table 1). CRP and SAA did not correlate with AIDAI. Conclusions CAN demonstrated rapid and sustained disease control assessed with AIDAI over 16 wks. Approximately half of crFMF and TRAPS pts, and 40% of HIDS/MKD patients had inactive disease after 16 wks of treatment. AIDAI improvements at Wk 16 correlated with patient and physician driven evaluations (PGA, SF12–MCS and SDS). CRP and SAA are indicators of response to treatment, rather than a disease activity parameter. References Piram M, et al. Ann Rheum Dis. 2014;73: 2168–73. De Benedetti F, et al. Ann Rheum Dis. 2016;75:615–6. Disclosure of Interest I. Kone-Paut Grant/research support from: Novartis, SOBI and Roche, Consultant for: Novartis, SOBI, Pfizer, AbbVie and Roche, M. Piram Consultant for: Novartis, Pfizer, AbbVie, Speakers bureau: Novartis, S. Benseler Consultant for: Novartis, SOBI and AbbVie, M. Hofer Consultant for: Novartis and AbbVie, H. Lachmann Consultant for: Novartis, SOBI, Takeda and GSK, Speakers bureau: Novartis and SOBI, H. Hoffman Consultant for: Novartis, Speakers bureau: Novartis, M. Gattorno Grant/research support from: Novartis and SOBI, Consultant for: Novartis and SOBI, J. Frenkel Grant/research support from: Novartis and SOBI, J. Kuemmerle-Deschner Grant/research support from: Novartis, Consultant for: Novartis, SOBI and Baxalta, S. Ozen Speakers bureau: Novartis and SOBI, J. Levy Paid instructor for: Novartis, C. Karyekar Employee of: Novartis, F. De Benedetti Grant/research support from: Pfizer, AbbVie, Roche, Novartis, Novimmune and BMS