Zulian F, Athreya B H, Laxer R, Nelson A M, Feitosa de Oliveira S K, Punaro M G, Cuttica R, Higgins G C, Van Suijlekom-Smit L W A, Moore T L, Lindsley C, Garcia-Consuegra J, Esteves Hilário M O, Lepore L, Silva C A, Machado C, Garay S M, Uziel Y, Martini G, Foeldvari I, Peserico A, Woo P, Harper J
Dipartimento di Pediatria, Università di Padova, Via Giustiniani 3, 35128 Padova, Italy.
Rheumatology (Oxford). 2006 May;45(5):614-20. doi: 10.1093/rheumatology/kei251. Epub 2005 Dec 20.
Juvenile localized scleroderma (JLS) includes a number of conditions often grouped together. With the long-term goal of developing uniform classification criteria, we studied the epidemiological, clinical and immunological features of children with JLS followed by paediatric rheumatology and dermatology centres.
A large, multicentre, multinational study was conducted by collecting information on the demographics, family history, triggering environmental factors, clinical and laboratory features, and treatment of patients with JLS.
Seven hundred and fifty patients with JLS from 70 centres were enrolled into the study. The disease duration at diagnosis was 18 months. Linear scleroderma (LS) was the most frequent subtype (65%), followed by plaque morphea (PM) (26%), generalized morphea (GM) (7%) and deep morphea (DM) (2%). As many as 15% of patients had a mixed subtype. Ninety-one patients (12%) had a positive family history for rheumatic or autoimmune diseases; 100 (13.3%) reported environmental events as possible trigger. ANA was positive in 42.3% of the patients, with a higher prevalence in the LS-DM subtype than in the PM-GM subtype. Scl70 was detected in the sera of 3% of the patients, anticentromere antibody in 2%, anti-double-stranded DNA in 4%, anti-cardiolipin antibody in 13% and rheumatoid factor in 16%. Methotrexate was the drug most frequently used, especially during the last 5 yr.
This study represents the largest collection of patients with JLS ever reported. The insidious onset of the disease, the delay in diagnosis, the recognition of mixed subtype and the better definition of the other subtypes should influence our efforts in educating trainees and practitioners and help in developing a comprehensive classification system for this syndrome.
青少年局限性硬皮病（JLS）包含多种常归为一类的病症。为制定统一的分类标准这一长期目标，我们对由儿科风湿病学和皮肤病学中心随访的JLS患儿的流行病学、临床及免疫学特征进行了研究。
开展了一项大型、多中心、跨国研究，收集有关JLS患者的人口统计学、家族史、引发环境因素、临床及实验室特征以及治疗情况的信息。
来自70个中心的750例JLS患者纳入了本研究。诊断时的病程为18个月。线状硬皮病（LS）是最常见的亚型（65%），其次是斑块状硬斑病（PM）（26%）、泛发性硬斑病（GM）（7%）和深部硬斑病（DM）（2%）。多达15%的患者为混合亚型。91例患者（12%）有风湿性或自身免疫性疾病的家族史阳性；100例（13.3%）报告环境事件可能为触发因素。42.3%的患者抗核抗体（ANA）呈阳性，在LS-DM亚型中的患病率高于PM-GM亚型。3%的患者血清中检测到Scl70，2%检测到抗着丝点抗体，4%检测到抗双链DNA，13%检测到抗心磷脂抗体，16%检测到类风湿因子。甲氨蝶呤是最常用的药物，尤其是在过去5年期间。
本研究是迄今报道的最大规模的JLS患者队列。该疾病隐匿起病、诊断延迟、混合亚型的识别以及其他亚型的更明确界定，应影响我们对实习医生和从业者的培训工作，并有助于为此综合征制定一个全面的分类系统。
