Russo Ricardo A G, Katsicas María M
Service of Immunology and Rheumatology, Hospital de Pediatría Prof, Dr, Juan P, Garrahan, Combate de los Pozos 1881, (1245) Buenos Aires, Argentina.
Pediatr Rheumatol Online J. 2007 May 1;5:6. doi: 10.1186/1546-0096-5-6.
Juvenile systemic sclerosis (JSS) is a multisystem connective tissue disease characterized by skin fibrosis and internal organ involvement. It has a low prevalence, even in a tertiary facility setting. The purpose of the present study is to describe and analyze the clinical and laboratory characteristics of a group of children with JSS followed in a single center.
Clinical charts of children with a diagnosis of JSS who were seen at a tertiary referral center between 1995 and 2005 were reviewed. Clinical features were recorded and analysed.
Twenty-three patients who met preliminary classification criteria for JSS were included. Age at first symptom attributable to JSS was 6 (1-14) years, The first symptom attributable to JSS was Raynaud's phenomenon in 14 cases. Proximal sclerosis (23 patients, 100%), sclerodactyly (21, 91%), Raynaud's phenomenon (19, 83%), and periungual capillaropathy (17, 74%) were the most consistent clinical findings during follow-up. Respiratory involvement occurred in two thirds of our patients, and it manifested as dyspnea as well as abnormal imaging and/or pulmonary function tests; pulmonary hypertension was an infrequent finding. Dysphagia was the commonest gastrointestinal symptom (9 patients, 39%). The most frequent musculoskeletal symptom was arthralgia (14 children, 6%); symmetrical arthritis was found in 8 (35%) patients. Periungual capillary abnormalities were evident during physical examination in 17 children; capillaroscopy revealed abnormalities in all 19 examined patients. ANA were present in 17 (74%) children: homogeneous pattern was the most frequent (8 patients), nucleolar (5) and speckled (4) were less common.
Raynaud's phenomenon heralds the beginning of the disease. Capilaroscopy is a major adjuvant in the diagnosis, since autoantibody determination may not offer sensitive and specific markers. Skin and vascular manifestations are the most common clinical features, while internal organ involvement is more rare. Cardiopulmonary disease is the most frequent visceral involvement, leading to significant morbidity.
青少年系统性硬化症（JSS）是一种多系统结缔组织疾病，其特征为皮肤纤维化和内脏器官受累。该病患病率较低，即便在三级医疗机构中亦是如此。本研究的目的是描述和分析在单一中心随访的一组JSS患儿的临床和实验室特征。
回顾了1995年至2005年间在一家三级转诊中心就诊的诊断为JSS的患儿的临床病历。记录并分析临床特征。
纳入了23例符合JSS初步分类标准的患者。JSS首发症状出现时的年龄为6（1 - 14）岁，首发症状为雷诺现象的有14例。近端硬化（23例患者，100%）、指（趾）硬皮病（21例，91%）、雷诺现象（19例，83%）和甲周毛细血管病变（17例，74%）是随访期间最常见的临床表现。三分之二的患者出现呼吸系统受累，表现为呼吸困难以及影像学和/或肺功能检查异常；肺动脉高压较少见。吞咽困难是最常见的胃肠道症状（9例患者，39%）。最常见的肌肉骨骼症状是关节痛（14例儿童，6%）；8例（35%）患者出现对称性关节炎。17例儿童在体格检查时可见甲周毛细血管异常；19例接受检查的患者经毛细血管镜检查均显示异常。17例（74%）儿童抗核抗体（ANA）呈阳性：均质型最为常见（8例患者），核仁型（5例）和斑点型（4例）较少见。
雷诺现象预示着疾病的开始。毛细血管镜检查是诊断的主要辅助手段，因为自身抗体检测可能无法提供敏感且特异的标志物。皮肤和血管表现是最常见的临床特征，而内脏器官受累较为少见。心肺疾病是最常见的内脏受累情况，可导致显著的发病率。
