Psoriatic fasciitis in a pediatric patient: A case report

BACKGROUND Diffuse fasciitis with psoriatic arthritis on magnetic resonance imaging(MRI) has not been previously described in childhood. Here we present the first case report of a pediatric patient developing fasciitis, beyond plantar fasciitis, with psoriatic arthritis.CASE SUMMARY An 11-year-old female was admitted with the complaints of psoriatic rash on the body associated with severe pain in the lower extremities and arthritis in the right knee. Psoriasis was confirmed by skin biopsy, she diagnosed with juvenile psoriatic arthritis. Diagnostic tests did not indicate any pathology except MRI.MRI of the femur and tibia revealed that high-signal inflammatory changes in the subdermal fascia. These findings led to a diagnosis of psoriatic fasciitis.Methotrexate was given for 3 mo but the patient showed no response to therapy;therefore, etanercept was added. However, there was no response to treatment.Etanercept was switched to adalimumab at the sixth month of therapy. Clinical improvement started with therapy of adalimumab within one month. Fasciitis finding in MRI disappeared at seventh months on adalimumab therapy. She has no complaint for two years with adalimumab.CONCLUSION The most effective imaging method is MRI and adalimumab may be the best choice of treatment for psoriatic fasciitis.

First report of cardiac tamponade in pediatric-onset mixed connective tissue disease

Mixed Connective Tissue Disease (MCTD) is relatively rare in children and typically presents with constitutional symptoms, rash, Raynaud’s phenomenon, and musculoskeletal symptoms. Cardiac involvement is an infrequent complication of MCTD usually occurring in the form of pericarditis without tamponade physiology. However, we present a case of a 10-year-old, previously healthy, African American male who developed pericarditis and tamponade as an initial manifestation of MCTD. One month prior to diagnosis, the child was hospitalized for fevers, knee pain and knee swelling. Arthrocentesis revealed leukocytosis yet no laboratory evidence of an infectious etiology. He was discharged on naproxen with a presumptive diagnosis of post-infectious arthritis. Over the next two weeks, the child was evaluated several times for intermittent, left-sided, chest pain. Electrocardiograms and chest radiographs were found to be normal. His non-steroidal anti-inflammatory medications were continued for supposed musculoskeletal chest pain. Ultimately the child was admitted for fever, chest pain and a pericardial effusion on echocardiogram. Within two days, symptoms progressed to include orthopnea and jugular venous distension. Pulsus paradoxus was demonstrable on exam and electrical alternans on cardiac monitor. Repeat echocardiogram revealed an increased effusion with tamponade physiology necessitating pericardiocentesis. Coincidentally, the patient began demonstrating Raynaud’s phenomenon and auto-antibodies supportive of MCTD returned positive. Symptoms improved on corticosteroids. This case illustrates the importance of considering an acute and critical process in an otherwise chronically evolving disease. It serves as the first report of such an occurrence in pediatriconset MCTD.

Pediatric ocular rosacea, a misdiagnosed disease with high morbidity:Proposed diagnostic criteria

Ocular rosacea is an important and underdiagnosed chronic inflammatory disorder observed in children. A clinical spectrum ranging from chronic eyelid inflammation, recurrent ocular redness, photophobia and/or hordeola/chalazions and conjunctival/corneal phlyctenules evolving to neovascularization and scarring may occur. Visual impairment and consequent amblyopia are frequent and corneal perforation although rare is the most feared complication. Ocular manifestations usually precede cutaneous lesions. Although few cases of pediatric ocular rosacea(POR) have been reported in the literature, many cases must have been underdiagnosed or misdiagnosed. The delay in diagnosis is greater than one year in the large majority of cases and may lead to serious ocular sequelae. This review aims to highlight the clinical features of POR, its epidemiology, easy diagnosis and effective treatment. We also propose new diagnostic criteria, in which at least three of the five clinical criteria must be present:(1) Chronic or recurrent keratoconjunctivitis and/or red eye and/or photophobia;(2) Chronic or recurrent blepharitis and/or chalazia/hordeola;(3) Eyelid telangiectasia documented by an ophthalmologist;(4) Primary periorificial dermatitis and/or primary features of rosacea; and (5) Positive familial history of cutaneous and/or ocular rosacea.

Frequency of Uveitis among Juvenile Idiopathic Arthritis Patients in a Tertiary Care Hospital of Bangladesh: A Retrospective Study

Background: Juvenile idiopathic arthritis (JIA) is the most frequently encountered pediatric rheumatologic disorder with an unknown etiology. At present there is no published data regarding the frequency of uveitis in patients with JIA in Bangladesh. This study aimed to observe the frequency of JIA-associated uveitis (JIAU) and distribution of uveitis among different sub-categories of JIA at the Pediatric Rheumatology division, both outdoor and indoor patients, Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU) in Bangladesh. Methods: This was a retrospective study of 1784 JIA patients at the Pediatric Rheumatology division, BSMMU from July 2010 to March 2023. Results: Among the 1784 enrolled JIA patients, we observed that 0.73% of cases had uveitis. Here, 61.5% of JIAU cases were male. Most of the cases (92.3%) had bilateral uveitis and only 7.7% cases had unilateral uveitis. Among JIAU patients, the majority were Oligo JIA (53.8%), followed by ERA 30.8%, Poly JIA RF(−) 7.7% and Systemic JIA 7.7% cases respectively. This study also revealed that 15.4% of JIAU patients had ANA positivity and 23% had HLA B-27 positivity. Here we also found ocular complications associated with uveitis such as band keratopathy (23.1%), posterior synechiae (15.4%) and cataract (15.4%). Conclusions: In this study, we observed only 0.73% of patients of JIA had developed uveitis which is lower than the frequency observed in other European studies. This study also showed various ocular complications amongst JIA-associated uveitis patients which signifies the importance of adherence to periodic ophthalmological follow-up to prevent these ocular complications.

Outcomes of a 12-month course of early and late rituximab BCD020 biosimilar administration in juvenile systemic lupus erythematosus:A retrospective study

BACKGROUND Juvenile systemic lupus erythematosus(SLE)is a severe,life-threatening disease.However,the role of rituximab in managing juvenile SLE remains undefined,although early biological intervention may improve disease outcomes.AIM To assess the differences in the outcomes of different types of rituximab administration(early and late).METHODS In this retrospective cohort study,the information of 36 children with SLE with administration(LRA)was analyzed.We compared initial disease characteristics at onset,at baseline(start of rituximab),and at the end of the study(EOS)at 12 months,as well as outcomes and treatment characteristics.RESULTS The main differences at baseline were a higher daily median dose of corticosteroids,increased MAS frequency,and a higher Systemic Lupus Erythematosus Disease Activity Index(SLEDAI)in the ERA group.No differences in the main SLE outcomes between groups at the EOS were observed.The part of lupus nephritis patients who achieved remission changed from 44%to 31%in ERA and 32%to 11%in the LRA group.Patients with ERA had a shorter time to achieve low daily corticosteroid dose(≤0.2 mg/kg)at 1.2(0.9;1.4)years compared to 2.8(2.3;4.0)years(P=0.000001)and higher probability to achieve this low dose[hazard ratio(HR)=57.8(95%confidence interval(CI):7.2-463.2),P=0.00001 and remission(SLEDAI=0);HR=37.6(95%CI:4.45-333.3),P=0.00001].No differences in adverse events,including severe adverse events,were observed.CONCLUSION ERA demonstrated a better steroid-sparing effect and a possibility of earlier remission or low disease activity,except for lupus nephritis.Further investigations are required.

Differential regulation of JAK/STAT-signaling in patients with ulcerative colitis and Crohn’s disease

In 2018,the pan-Janus kinase(JAK)inhibitor tofacitinib was launched for the treatment of ulcerative colitis(UC).Although tofacitinib has proven efficacious in patients with active UC,it failed in patients with Crohn’s disease(CD).This finding strongly hints at a different contribution of JAK signaling in both entities.Here,we review the current knowledge on the interplay between the JAK/signal transducer and activator of transcription(STAT)pathway and inflammatory bowel diseases(IBD).In particular,we provide a detailed overview of the differences and similarities of JAK/STAT-signaling in UC and CD,highlight the impact of the JAK/STAT pathway in experimental colitis models and summarize the published evidence on JAK/STAT-signaling in immune cells of IBD as well as the genetic association between the JAK/STAT pathway and IBD.Finally,we describe novel treatment strategies targeting JAK/STAT inhibition in UC and CD and comment on the limitations and challenges of the new drug class.

Effectiveness of Huai Qi Huang Granules on Juvenile Collagen-induced Arthritis and Its Influence on Pyroptosis Pathway in Synovial Tissue

Summary:Huai Qi Huang(HQH)exerts great effects in clinic,such as anti-inflammation,immune-regulation,anti-cancer,and so on.However,the mechanism by which HQH protects juvenile idiopathic arthritis(JIA)is obscure.Thus,we explored deeply the protective mechanisms in juvenile collagen-induced arthritis(CIA)rat model.Pyroptosis is Gasdermin D(GSDMD)-dependent programmed cell death,involved in many diseases,such as sepsis.We investigated whether GSDMD-induced pyroptosis take part in mechanisms of juvenile CIA arthritis.Juvenile Wistar rats(3-4 weeks)were injected intradermally with fully emulsified bovine typeⅡcollagen and complete Freund's adjuvant to establish CIA rat models.Later,the CIA rats received oral administration of HQH(4.16 g/kg)once a day from the day 21 of modeling,with the treatment lasting for 28 days.Varieties of indicators were measured for evaluation of anti-inflammation effect of HQH,including hind paw swelling,arthritis scores,micro CT,and histopathological changes and the level of pro-inflammatory cytokines in the serum,including tumor necrosis factor alpha(TNF-α)and interleukin-18(IL-18).The expression of GSDMD and caspasein the joint synovial tissues was detected.The results demonstrated that the expression of the pyroptotic protein GSDMD and its upstream caspase-1 was significantly increased in the synovial tissues of CIA rats.The treatment of HQH ameliorated the symptoms in CIA rats,reduced levels of pro-inflammatory cytokines and hind paw swelling,down-regulated the expression of GDSMD and caspase-1.GSDMDinduced pyroptosis participated in the pathogenesis of CIA rats.The study supported that HQH can effectively improve joints inflammation of juvenile collagen-induced arthritis rats by inhibiting pyroptosis pathway in the joint synovial tissues.

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis(JIA) is the most common chronic rheumatologic disease in childhood, which represents a nonhomogeneous group of disorders that share the clinical manifestation of arthritis lasting at least 6 wk under the age of 16. The exact diagnosis requires exclusion of other diseases that cause arthritis. The exact etiopathogenesis of JIA is still unknown. The interactions between genetic factors, environmental exposures and immune mechanisms are thought to contribute to pathogenesis of the disease. The "International League Against Rheumatism" classification divides JIA into 7 subtypes: oligoarticular JIA, rheumatoid factor(RF) positive polyarticular JIA, RF negative polyarticular JIA, systemic-onset JIA, enthesitis-related arthritis, juvenile psoriatic arthritis and undifferentiated JIA. Each subgroup of JIA is characterized by a different mode of presentation, disease course and outcome. The improvements in treatment of JIA in the last 2decades, such as the early introduction of intraarticular corticosteroids, methotrexate and biologic agents, have dramatically upgraded the prognosis of the disease. If untreated, JIA may cause devastating results, such as disability from joint destruction, growth retardation, blindness from chronic iridocyclitis, and even multiple organ failure and death in systemic-onset JIA. The aim of treatment is the induction of remission and control the disease activity to minimize the pain and loss of function, and to maximize quality of life. JIA is a disease having a chronic course, which involves active and inactive cycles over the course of years. Recent studies showed that nearly half of the patients with JIA enter adulthood with their ongoing active disease. This review elucidates how recent advances have impacted diagnosis, pathogenesis and current treatment.

Health-Related Quality of Life of Children and Adolescents with Juvenile Idiopathic Arthritis in Western Saudi Arabia

Objectives: To evaluate the effect of Juvenile Idiopathic Rheumatoid Ar-thritis (JIA) on the health-related quality of life (HRQOL) in Saudi children. Methods: A cross-sectional study was conducted in a tertiary hospital in Jeddah, Saudi Arabia to evaluate the HRQOL of children aged ≤ 18 years who had JIA using the childhood health assessment questionnaire modified for Arab children (CHAQ-MAC). Such questionnaire investigates 34 activities of daily life (ADL) classified into 8 life domains. Children or their parents were invited for face-to-face interview, and a phone interview was done for patients who missed their appointments during the period between February and July 2017. A statistical model was used to calculate a total CHAQ.MAC score (range = 0 - 33;Cronbach’s alpha = 0.966);with higher values indicating poorer HRQOL. Results: Of a total of 44 children (male ratio = 0.63;mean ± SD age = 9.95 ± 5.44), Systemic-onset JIA was the most frequent type (27.3%), followed by polyarticular (15.9%) and oligoarticular (13.6%). Pain was reported among 43.2% (frequently in the knee, in 27.3%) whereas morning stiffness was reported in 20.5%. The mean CHAQ.MAC score = 2.89 (75th centile = 3.00). With respect of ADLs, up to 22.7% of the children complained of difficulty;and 31.8% reported a difficulty in at least one of the 34 investigated ADLs. With respect of the life domain, children reported difficulties for activities (27.3%), dressing & grooming and hygiene (13.6%), and eating (6.82%). According to the life domain, 4.5% to 13.6% of the children needed help to execute the related ADLs and up to 9.1% used aids or devices. Poor HRQOL was associated with articular pain (p = 0.003) and specific medication (p = 0.043). Con-clusion: Children with arthralgia and those on specific treatment are at higher risk of impaired QOL, which emphasizes the need for systematic screening for treatment adverse effects and joint pain and implementation of efficient management to improve HRQOL.

Neonatal Kawasaki Disease: A Case Report

Objective: To report a case of Kawasaki disease (KD) with unusual age at presentation. Case Report: A 26-day-old Saudi boy presented with fever, irritability and poor feeding for 3 days. There was right cervical lymph node enlargement. There was mild throat congestion and bilateral congested tympanic membrane. The liver was palpable. Otherwise, there were no more abnormal physical findings. Laboratory findings revealed high erythrocyte sedimentation rate and positive C-reactive protein. The patient was admitted into an isolation room and antibiotics were started. On the 5th day, the condition of the patient deteriorated. Ampicillin was discontinued and vancomycin was started till getting the results of the culture sensitivity. On the 7th day, he developed diaper rash and fever spikes continued. On the 8th day, the patient developed swelling, redness and hotness of the right hand. Possibility of sepsis was considered and the administered antibiotics were imipenem and vancomycin, while cefotaxime was discontinued. On the 12th day, the patient developed anemia and leukocytosis. Gamma glutamyl transpeptidase was high. On the 15th day, the patient started to develop maculopapular rash on the trunk and desquamation of both hands and feet with swelling, cracked lips, bilateral conjunctival injection and unilateral neck lymph node swelling. So, the infant’s condition was clinically diagnosed as KD. Aspirin was started and 2 doses of intravenous immunoglobulins were given. On the 18th day, the condition of patient improved and the fever subsided. Conclusions: The diagnosis of KD among neonates is a clinical challenge. Diagnosis is based on clinical criteria after the exclusion of other diseases presenting with high persistent fever. Early treatment by administering intravenous immunoglobulins and aspirin can help prevent cardiac complications. There is a pressing need to raise awareness among pediatricians about this disease.

Effectiveness of Rituximab Therapy on Severe Calcinosis in 4 Children with Juvenile Dermatomyositis

Background: Calcinosis is an important sequela of JDM which may cause significant morbidity and mortality. There is no standard curative treatment for calcinosis but different agents were used with variable efficacy. We report the favorable outcome of rituximab on severe calcinosis in 4 JDM patients and present their clinical data. Patients and Methods: A retrospective chart review of 4 children with JDM and severe calcinosis who received rituximab for relapsing or polycyclic JDM course. Diagnosis and follow up of calcinosis was clinically and by X-ray. Review data included: age of patients at onset of JDM symptoms and diagnosis, clinical and laboratory criteria at diagnosis, disease course and duration of follow up. Data about calcinosis onset, sites, severity and its progression were also included. Further data about rituximab therapy included: dosage, side effects, other treatment used before, during or after this drug and outcome and duration of follow up of calcinosis after therapy. Results: 4 patients (2 male, 2 female), interval between onset of symptoms and diagnosis was 6 - 12 months, course of JDM was polycyclic or relapsing, duration of follow up was 5 - 7 years. Calcinosis was severe causing ulceration, recurrent skin infections and joint limitation. It was not improving despite treatment with different DMARDs and/or bisphosphonates, colchicine and warfarin. Reason to start rituximab was inadequate disease control with conventional DMARDs. All patients received steroids and more than one DMARD before starting rituximab and were continued thereafter, follow up after rituximab was 3 to 5 years. All patients had improvement in disease activity and frequency of admission especially due to complications of calcinosis. One patient had complete clearance of calcinosis for the last 5 years. Others had significant improvement in calcinosis with no new lesions, decreased sites and density and decreased calcinosis related contractures. There were no serious side effects to rituximab. Conclusion: Our study showed the favorable effect of rituximab in treatment of calcinosis in 4 patients with JDM-associated severe calcinosis when it was used with other conventional DMARDs.

Magnetic resonance imaging evaluation of head and neck involvement in IgG4-related disease

Objective:To evaluate the radiological features of IgG4-related disease(IgG4-RD)in the head and neck region.Methods:In this radiology-based study,radiological features,clinical,laboratory,pathological findings,and prognosis of nine patients with head and neck involvement diagnosed with IgG4-RD were investigated retrospectively.Results:The median age of the patients was 38 years(range:2.5-79 years),and there were six males and three females.The most common symptoms and clinical findings of the patients were eyelid and lacrimal gland swelling,painless exophthalmos,and ophthalmoplegia.The most common site of involvement on MRI was the orbit.Orbital involvement was followed by branches of the trigeminal nerve,sinonasal cavity,cervical lymph nodes,and dural involvement.The most common and remarkable imaging features were T2 hypointensity and diffuse homogeneous contrast enhancement.Conclusions:Head and neck involvement of the IgG4-RD,has specific imaging features that can help with diagnosis.Thus,early diagnosis and better outcomes can be achieved with increasing awareness of these features of this relatively new pathology.

Autoinflammatory diseases in childhood

Autoinflammatory diseases are defined as recurrent attacks of systemic inflammation that are often unprovoked (or triggered by a minor event) related to a lack of adequate regulation of the innate immune system. Within the past decade, the list of autoinflammatory diseases has included cryopyrin-associated periodic syndromes, familial Mediterranean fever, mevalonate kinase deficiency, tumor necrosis factor receptor-associated periodic syndrome, hereditary pyogenic disorders, pediatric granulomatous autoinflammatory diseases, idiopathic febrile syndromes (systemic-onset juvenile idiopathic arthritis, PFAPA syndrome), complement dysregulation syndromes and Behcet’s disease. The hereditary autoinflammatory diseases are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation. Autoinflammatory diseases can activate NOD-like receptors and inflammasome products including especially interleukin 1β. In this review, it focuses on how recent advances have impacted hereditary autoinflammatory diseases.

A Rare Case of Chronic Recurrent Multifocal Osteomyelitis with Undifferentiated Juvenile Idiopathic Arthritis, Uveitis, and Psoriasis

We report here a 17-year-old boy with a complicated presentation of undifferentiated juvenile idiopathic arthritis, vision-threatening uveitis and chronic recurrent multifocal osteomyelitis (CRMO) in the pelvis. His severe iritis needed subtenon injections and only responded to infliximab after failing multiple biologics. Unfortunately he later developed infliximab-associated psoriasis. A combination of infliximab and ustekinumab induced remission of his arthritis, osteomyelitis, uveitis and psoriasis without experiencing severe infections.

Nonspecifc increase ofαβTCR+double‑negative T cells in pediatric rheumatic diseases

Background An increased number of double-negative T(DNT)cells expressing theαβT cell receptor(αβ+DNT cells)is one of the diagnostic criteria for autoimmune lymphoproliferative syndrome(ALPS).Moreover,these cells are expanded in a widely used murine model for lupus.However,the homeostasis ofαβ+DNT cells remains inadequately investigated in rheumatic disorders,especially in pediatric patients.Methods In this cross-sectional,prospective,and observational study,children with rheumatic disorders and healthy controls were recruited to analyze the quantity and characteristics of circulating DNT cells using fow cytometry.Results Overall,the two study groups did not difer in their total DNT cell pool in the bloodstream.However,the number ofαβ+DNT cells was signifcantly higher in rheumatic children than that in the controls,whereas theγδ+DNT cells remained similar.This expansion in the circulating pool ofαβ+DNT cells was comparable across diferent rheumatic diseases,all showing signifcant diferences from the controls in this regard.Moreover,no signifcant correlation was found betweenαβ+DNT cell numbers and disease activity.Conclusions These preliminary results indicate that circulatingαβ+DNT cells are signifcantly expanded in children with rheumatic disorders;however,this fnding appears to be a nonspecifc(disease-unrelated)marker of autoimmunity.Further and larger studies are necessary to better investigate and defne the role of DNT cells in pediatric rheumatic diseases.

Fever of unknown origin:a retrospective review of pediatric patients from an urban,tertiary care center in Washington,DC

Background Fever of unknown origin(FUO)continues to challenge clinicians to determine an etiology and the need for treatment.This study explored the most common etiologies,characteristics,and average cost of hospitalization for FUO in a pediatric population at an urban,tertiary care hospital in Washington,DC.Methods Records from patients admitted to Children's National Health System between September 2008 and April 2014 with an admission ICD-9 code for fever(780.6)were reviewed.The charts of patients 2-18 years of age with no underlying diagnosis and a temperature greater than 38.3℃for 7 days or more at time of hospitalization were included.Final diagnoses,features of admission,and total hospital charges were abstracted.Results 110 patients qualified for this study.The majority of patients(n=42,38.2%)were discharged without a diagnosis.This was followed closely by infection,accounting for 37.2%(n=41)of patients.Rheumatologic disease was next(n=16,14.5%),followed by miscellaneous(n=6,5.4%)and oncologic diagnoses(n=5,4.5%).The average cost of hospitalization was 40,295 US dollars.Conclusions This study aligns with some of the most recent publications which report undiagnosed cases as the most common outcome in patients hospitalized with FUO.Understanding that,often no diagnosis is found may reassure patients,families,and clinicians.The cost associated with hospitalization for FUO may cause clinicians to reconsider inpatient admission for diagnostic work-up of fever,particularly given the evidence demonstrating that many patients are discharged without a diagnosis.

Immunological pathogenesis and treatment of systemic lupus erythematosus

Background Systemic lupus erythematosis(SLE)is a complex and clinically heterogeneous autoimmune disease.A variety of immunological defects contribute to SLE,including dysregulated innate and adaptive immune response.A clearer understanding of the mechanisms driving disease pathogenesis combined with recent advances in medical science is predicted to enable accelerated progress towards improved SLE-personalized approaches to treatment.The aim of this review was to clarify the immunological pathogenesis and treatment of SLE.Data sources Literature reviews and original research articles were collected from database,including PubMed and Wanfang.Relevant articles about SLE were included.Results Breakdown of self-tolerance is the main pathogenesis of SLE.The innate and adaptive immune networks are interlinked with each other through cytokines,complements,immune complexes and kinases of the intracellular machinery.Treatments targeted at possible targets of immunity have been assessed in clinical trials.Most of them did not show better safety and efficacy than traditional treatments.However,novel targeting treatments are still being explored.Conclusions Dysregulated immune response plays a critical role in SLE,including innate immunity and adaptive immunity.Biologic agents that aim to specifically target abnormal immune processes were assessing and may bring new hope to SLE patients.

Juvenile dermatomyositis:advances in clinical presentation,myositis-specific antibodies and treatment

Background Juvenile dermatomyositis(JDM)is a chronic autoimmune disease characteristic by inflammation of small vessels within the skin,muscle and vital organs.But the clinical features and treatment of JDM have not been fully clarified.Data sources Databases underwent through PubMed for articles about the clinical features,myositis-specific antibodiesof JDM and its treatment,and we selected publications written in English which were relevant to the topic of this review.Results Clinical features and myositis-specific antibodies may predict the severity and prognosis of disease.Although the mortality rate has been lower with traditional treatments,such as corticosteroid,intravenous immunoglobulin,and diseasemodifying anti-rheumatic drugs such as methotrexate,their usages are variable.Novel biological therapies seem to be effective for refractory JDM patients,but more clinical trials are necessary.Conclusions JDM is a sever disease of childhood.We need to better understand recent advances of JDM in the context of clinical features including skin manifestations,muscle weakness and organ damage,myositis-specific antibodies and their associated outcomes and the treatment of disease.

Overview of juvenile localized scleroderma and its management

Background Juvenile localized scleroderma(JLS)is a rare pediatric disease characterized by inflammation and skin thick ening.JLS is associated with deep tissue and extracutaneous involvement that often results in functional impairment and growth disturbances.This article provides an overview of the disease with a focus on active features and treatment.Data sources We searched databases including PubMed,Elsevier and MedLine and Wanfang,reviewing publications from 2013 to 2019.Selected earlier publications were also reviewed.Results Linear scleroderma is the most common JLS subtype.Several lines of evidence suggest that JLS is an autoimmune disease.Extracutaneous involvement is common and can present before the onset of skin disease.Multiple skin features are associated with disease activity,and activity can also manifest as arthritis,myositis,uveitis,seizures,and growth impairment.Systemic immunosuppressive treatment,commonly methotrexate with or without glucocorticoids,greatly improves outcome and is recommended for treating JLS patients with active disease and moderate or higher severity.Long term monitoring is needed because of the disease's chronicity and the high frequency of relapses off of treatment.Conclusions JLS is associated with a risk for disabling and disfiguring morbidity for the growing child.Identifying active disease is important for guiding treatment,but often difficult because of the paucity of markers and lack of a universal skin activity feature.More studies of JLS pathophysiology are needed to allow the identification of biomarkers and therapeutic targets.Comparative effectiveness treatment studies are also needed to work towards optimizing care and outcome.

Clinical and laboratory features,treatment,and outcomes of macrophage activation syndrome in 80 children:a multi-center study in China

Background Macrophage activation syndrome(MAS)is a major cause of morbidity and mortality in pediatric rheumatology.We aimed to further understand the clinical features,treatment,and outcome of MAS in China.Methods A multi-center cohort study was performed in seven hospitals in China from 2012 to 2018.Eighty patients with MAS were enrolled,including 53 cases with systemic juvenile idiopathic arthritis(SJIA-MAS),10 cases of Kawasaki disease(KD-MAS),and 17 cases of connective tissue disease(CTD-MAS).The clinical and laboratory data were collected before(pre-),at onset,and during full-blown stages of MAS.We compared the data among the SJIA-MAS,KD-MAS,and CTD-MAS subjects.Results 51.2%of patients developed MAS when the underlying disease was first diagnosed.In patients with SJIA,22.6%(12/53)were found to have hypotension before the onset of SJIA-MAS.These patients were also found to have significantly increased aspartate aminotransferase(AST)and lactate dehydrogenase(LDH),as well as decreased albumin(P<0.05),but no difference in alanine aminotransferase,ferdtin,and ratio of ferritin/erythrocyte sedimentation rate(ESR)at onset of MAS when compared to pre-MAS stages of the disease.In addition,ferritin and ratio of ferritin/ESR were significantly elevated in patients at full-blown stages of SJIA-MAS compared to pre-MAS stage.Significantly increased ferritin and ratio of ferritin/ESR were also observed in patients with SJIA compared to in KD and CTD.Receiver-operating characteristic analysis showed that 12,217.5μg/L of ferritin and 267.5 of ferritin/ESR ratio had sensitivity(80.0%and 90.5%)and specificity(88.2%and 86.7%),respectively,for predicting full-blown SJIA-MAS.The majority of the patients received corticosteroids(79/80),while biologic agents were used in 12.5%(10/80)of cases.Tocilizumab was the most commonly selected biologic agent.The overall mortality rate was 7.5%.Conclusions About half of MAS occurred when the underlying autoimmune diseases(SJIA,KD,and CTD)were first diagnosed.Hypotension could be an important manifestation before MAS diagnosis.Decreased albumin and increased AST,LDH,ferritin,and ratio of ferritin/ESR could predict the onset or full blown of MAS in patient with SJIA.