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Abstract：
BACKGROUND: Systemic sclerosis (SSc; scleroderma) is an autoimmune connective tissue disease that affects the skin and subcutaneous tissue, in addition to the internal organs of the whole body. Onset in childhood is uncommon; however, both patients with childhood-onset and adult-onset SSc are positive for anti-nuclear antibodies (ANAs).Detection of SSc-related anti-nuclear antibodies is often useful for predicting clinical features, disease course, and outcomes.
METHODS: A 5-year-old Japanese female manifested gradually progressive abnormal gait disturbance, regression of motor development, Raynaud\'s phenomenon, and the shiny appearance of the skin of the face and extremities at age 2. On admission, she presented a mask-like appearance, loss of wrinkles and skin folds, puffy fingers, moderate diffuse scleroderma (18/51 of the modified Rodnan total skin thickness score), and contracture in the ankle and proximal interphalangeal joints. Grossly visible capillary hemorrhage on nail fold and severe abnormal capillaroscopy findings including bleeding, giant loop and disappearance of capillaryconsistent with the late phase in SSc. A skin biopsy showed fibrous thickening of the dermis, entrapment of an eccrine sweat glands, and thickened fiber. Chest high-resolution computed tomographic scanning demonstrated patchy areas of ill-defined air-space opacity and consolidation predominantly involving the posterior basilar aspects of the lower lobes presenting withinterstitial lung disease. Positive ANA (1:160 nucleolar and homogeneous nuclear staining by indirect fluorescent antibody technique) and double-seropositive for anti-Th/To and anti-PM-Scl antibodies were identified. She was diagnosed with diffuse cutaneous SSc based on the Pediatric Rheumatology European Society/American College of Rheumatology/European League Against Rheumatism Provisional Classification Criteria for Juvenile Systemic Sclerosis and was successfully treated with immunosuppressive agents, including methylprednisolone pulses and intravenous cyclophosphamide.
CONCLUSIONS: We experienced the first case of juvenile SSc with anti-PM-Scl and anti-Th/To antibodies. ILD was identified as a typical feature of patients with these autoantibodies; however, diffuse cutaneous SSc and joint contraction were uncharacteristically associated. The case showed unexpected clinical findings though the existence of SSc-related autoantibodies aids in determining possible organ involvement and to estimate the children\'s outcome.
METHODS: A 5-year-old Japanese female manifested gradually progressive abnormal gait disturbance, regression of motor development, Raynaud\'s phenomenon, and the shiny appearance of the skin of the face and extremities at age 2. On admission, she presented a mask-like appearance, loss of wrinkles and skin folds, puffy fingers, moderate diffuse scleroderma (18/51 of the modified Rodnan total skin thickness score), and contracture in the ankle and proximal interphalangeal joints. Grossly visible capillary hemorrhage on nail fold and severe abnormal capillaroscopy findings including bleeding, giant loop and disappearance of capillaryconsistent with the late phase in SSc. A skin biopsy showed fibrous thickening of the dermis, entrapment of an eccrine sweat glands, and thickened fiber. Chest high-resolution computed tomographic scanning demonstrated patchy areas of ill-defined air-space opacity and consolidation predominantly involving the posterior basilar aspects of the lower lobes presenting withinterstitial lung disease. Positive ANA (1:160 nucleolar and homogeneous nuclear staining by indirect fluorescent antibody technique) and double-seropositive for anti-Th/To and anti-PM-Scl antibodies were identified. She was diagnosed with diffuse cutaneous SSc based on the Pediatric Rheumatology European Society/American College of Rheumatology/European League Against Rheumatism Provisional Classification Criteria for Juvenile Systemic Sclerosis and was successfully treated with immunosuppressive agents, including methylprednisolone pulses and intravenous cyclophosphamide.
CONCLUSIONS: We experienced the first case of juvenile SSc with anti-PM-Scl and anti-Th/To antibodies. ILD was identified as a typical feature of patients with these autoantibodies; however, diffuse cutaneous SSc and joint contraction were uncharacteristically associated. The case showed unexpected clinical findings though the existence of SSc-related autoantibodies aids in determining possible organ involvement and to estimate the children\'s outcome.
摘要：
背景：系统性硬化症（SSc；硬皮病）是一种影响皮肤和皮下组织的自身免疫性结缔组织疾病，除了整个身体的内部器官。在童年开始并不常见；然而，儿童期发病和成人发病的SSc患者抗核抗体(ANAs)均呈阳性.SSc相关抗核抗体的检测通常可用于预测临床特征。病程,和结果。
方法：一名5岁的日本女性表现为逐渐进行性的异常步态障碍，运动发展的回归，雷诺现象,2岁时面部和四肢皮肤的光泽外观。一入场,她呈现出面具般的外表，皱纹和皮肤褶皱的损失，浮肿的手指，中度弥漫性硬皮病（改良Rodnan总皮肤厚度评分的18/51），踝关节和近端指间关节挛缩。指甲褶皱上明显可见的毛细血管出血和严重的异常毛细血管镜检查结果，包括出血，巨环和毛细血管的消失与SSc的晚期一致。皮肤活检显示真皮纤维增厚,截留内分泌汗腺，和加厚的纤维。胸部高分辨率计算机断层扫描显示出不明确的空气空间混浊和实变的斑片状区域，主要涉及表现为间质性肺病的下叶后基底方面。鉴定出ANA阳性（通过间接荧光抗体技术进行1：160核仁和均质核染色）和抗Th/To和抗PM-Scl抗体的双血清阳性。根据儿科风湿病学欧洲学会/美国风湿病学会/欧洲抗风湿病联盟青少年系统性硬化症临时分类标准，她被诊断为弥漫性皮肤SSc，并成功使用免疫抑制剂治疗。包括甲基强的松龙脉冲和静脉注射环磷酰胺。
结论：我们经历了第一例具有抗PM-Scl和抗Th/To抗体的青少年SSc。ILD被确定为具有这些自身抗体的患者的典型特征；然而，弥漫性皮肤SSc和关节收缩异常相关.尽管SSc相关自身抗体的存在有助于确定可能的器官受累并估计儿童的预后，但该病例显示出意想不到的临床发现。
方法：一名5岁的日本女性表现为逐渐进行性的异常步态障碍，运动发展的回归，雷诺现象,2岁时面部和四肢皮肤的光泽外观。一入场,她呈现出面具般的外表，皱纹和皮肤褶皱的损失，浮肿的手指，中度弥漫性硬皮病（改良Rodnan总皮肤厚度评分的18/51），踝关节和近端指间关节挛缩。指甲褶皱上明显可见的毛细血管出血和严重的异常毛细血管镜检查结果，包括出血，巨环和毛细血管的消失与SSc的晚期一致。皮肤活检显示真皮纤维增厚,截留内分泌汗腺，和加厚的纤维。胸部高分辨率计算机断层扫描显示出不明确的空气空间混浊和实变的斑片状区域，主要涉及表现为间质性肺病的下叶后基底方面。鉴定出ANA阳性（通过间接荧光抗体技术进行1：160核仁和均质核染色）和抗Th/To和抗PM-Scl抗体的双血清阳性。根据儿科风湿病学欧洲学会/美国风湿病学会/欧洲抗风湿病联盟青少年系统性硬化症临时分类标准，她被诊断为弥漫性皮肤SSc，并成功使用免疫抑制剂治疗。包括甲基强的松龙脉冲和静脉注射环磷酰胺。
结论：我们经历了第一例具有抗PM-Scl和抗Th/To抗体的青少年SSc。ILD被确定为具有这些自身抗体的患者的典型特征；然而，弥漫性皮肤SSc和关节收缩异常相关.尽管SSc相关自身抗体的存在有助于确定可能的器官受累并估计儿童的预后，但该病例显示出意想不到的临床发现。
