ABSTRACT
Juvenile localized scleroderma (JLS) is a rare rheumatic immune disease in children, which is characterized by early inflammation and late fibrosis of skin and subcutaneous tissues.At present, the pathogenesis of JLS remains unclear, and lacks specific treatment.This study reviews the research progress of clinical assessment, drug therapy, physiotherapy and surgical therapy of JLS, aiming to provide references for clinical treatment of JLS.
ABSTRACT
Abstract Objective: To assess esophageal involvement (EI) in juvenile localized scleroderma (JLS) population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes. Methods: For a period of 30 years, 5881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia) and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring. Results: JLS was observed in 56/5881 patients (0.9%), mainly linear morphea subtype. EI was observed in 23/56(41%) of JLS patients. Eight(35%) of 23 EI patients with JLS were symptomatic and presented heartburn(5/8), solid and liquid dysphagia(3/8), nausea and epigastralgia(1/8). The frequency of any cumulative extracutaneous manifestations (calcinosis, arthritis/arthralgia, central nervous system, interstitial pneumonitis, mesangial nephritis and/or arrhythmia) was significantly higher in JLS patients with EI compared to those without this complication (56% vs. 24%, p = 0.024). No differences were evidenced in demographic data, JLS subtypes and in each extracutaneous manifestation in both groups (p > 0.05). The frequency of methotrexate use was significantly higher in JLS patients with EI compared to those without (52% vs. 12%, p = 0.002). Autoantibody profile (antinuclear antibodies, anti-SCL-70, rheumatoid factor, anticentromere, anti-cardiolipin, anti-Ro/SSA and anti-La/SSB) was similar in both groups (p > 0.05). Conclusions: Our study demonstrated that EI was frequently observed in JLS patients, mainly in asymptomatic patients with linear subtype. EI occurred in JLS patients with other extracutaneous manifestations and required methotrexate therapy.
Resumo Objetivo: Avaliar o envolvimento do esôfago (EE) na população com esclerodermia localizada juvenil (ELJ) e a possível associação entre essa manifestação gastrointestinal e dados demográficos, características clínicas, exames laboratoriais, tratamentos e desfechos. Métodos: Durante 31 anos, 5.881 pacientes com doenças reumáticas foram acompanhados em nossa Divisão de Reumatologia Pediátrica. O EE foi definido pela presença de sintomas (disfagia para sólidos/líquidos, azia, regurgitação esofágica, náuseas/vômitos e epigastralgia) e confirmado com pelo menos um exame que revelou EE: radiografia contrastada com bário, endoscopia digestiva alta e pHmetria esofágica de 24 horas. Resultados: Observou-se ELJ em 56/5.881 pacientes (0,9%), principalmente do subtipo morfeia linear. O EE foi observado em 23/56 (41%) dos pacientes com ELJ. Oito (35%) dos 23 pacientes com ELJ com EE eram sintomáticos e apresentavam azia (5/8), disfagia para sólidos e líquidos (3/8), náuseas e epigastralgias (1/8). A frequência de quaisquer manifestações extracutâneas cumulativas (calcinose, artrite/artralgia, envolvimento do sistema nervoso central, pneumonite intersticial, nefrite mesangial e/ou arritmias) foi significativamente maior em pacientes com ELJ com EE em comparação com aqueles sem essa complicação (56% vs. 24%, p = 0,024). Não foi evidenciada diferença nos dados demográficos, subtipos de ELJ e quaisquer manifestações extracutâneas entre os grupos (p > 0,05). A frequência de uso de metotrexato foi significativamente maior em pacientes com ELJ com EE em comparação com aqueles sem EE (52% vs. 12%, p = 0,002). O perfil de autoanticorpos (anticorpos antinucleares, anti-SCL-70, fator reumatoide, anticentrômero, anticardiolipina, anti-Ro/SSA e anti-La/SSB) foi semelhante nos dois grupos (p > 0,05). Conclusões: Este estudo demonstrou que o EE foi frequentemente observado em pacientes com ELJ, principalmente naqueles assintomáticos com o subtipo linear da doença. O EE ocorreu em pacientes com ELJ com outras manifestações extracutâneas e exigiu tratamento com metotrexato.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Scleroderma, Localized/complications , Esophageal Diseases/etiology , Scleroderma, Localized/drug therapy , Methotrexate/therapeutic use , Retrospective Studies , Endoscopy, Gastrointestinal , Antirheumatic Agents/therapeutic useABSTRACT
Juvenile localized scleroderma (JLS) is a rare chronic inflammatory and fibrosing disorder. It can result in significant morbidity, disfigurement, and severe functional, aesthetic and psychological disabilities. Patients with JLS should be identified early, evaluated extensively, treated aggressively, and monitored carefully. Here the case of a 2 year old boy is reported who was admitted into the department of Paediatrics of Delta Medical College & Hospital, Dhaka, Bangladesh with painful swelling of all fingers of both hands for 6 months and blackish patches over the fingers for the last one and half months. Left little finger was the first finger affected and there was flexion contracture of both left little and index fingers. The boy was diagnosed as a case of juvenile localized scleroderma and was confirmed by skin biopsy. We treated the child with methotrexate and prednisolone. It is very essential to raise awareness about this disease among clinicians and also parents for early diagnosis and treatment.
ABSTRACT
Scleroderma is a set of rare connective tissue diseases of unknown etiology. It is characterized by thickening and hardening of the skin. Scleroderma is divided into two main subgroups: systemic and localized. The systemic form, also known as systemic sclerosis, involves diffuse skin involvement associated with fibrotic changes in internal organs. Juvenile localized scleroderma is a more common entity and is usually confined to a specific region of the body with no internal organ involvement. Therapeutics are divided into three main subgroups for juvenile systemic sclerosis: antifibrotics, anti-inflammatories, and vasodilators. For localized disease, anti-inflammatories, vitamin D analogues, and UV irradiation have been investigated. The rarity of scleroderma in children and the self-limiting nature of the disease together make randomized controlled trials very difficult. Therefore, most data on therapeutic modalities for this condition have to be extrapolated from studies conducted on adults. International cooperation, following a standardized operation protocol, is needed to validate these and future interventions such as autologous stem cell transplant and cytokine-directed therapies.