Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan, 8-1 Kawada-Cho, Shinjuku- Ku, 162-8666, Tokyo, Japan.
Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, 8-1 Kawada-Cho, Shinjuku- Ku, 162-8666, Tokyo, Japan.
Pediatr Rheumatol Online J. 2021 Mar 20;19(1):37. doi: 10.1186/s12969-021-00525-1.
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.
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.
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.
系统性硬化症（SSc；硬皮病）是一种影响皮肤和皮下组织以及全身内脏器官的自身免疫性结缔组织疾病。儿童发病不常见；然而，儿童发病和成人发病的 SSc 患者均为抗核抗体（ANA）阳性。检测与 SSc 相关的抗核抗体通常有助于预测临床特征、疾病过程和结局。
一名 5 岁日本女性，2 岁时出现逐渐进展的异常步态障碍、运动发育倒退、雷诺现象和面部及四肢皮肤光亮。入院时，她呈现面具样面容、皱纹和皮褶消失、肿胀手指、中度弥漫性硬皮病（改良罗德纳总皮肤厚度评分的 18/51）和踝关节及近指间关节挛缩。甲褶可见明显毛细血管出血，严重异常毛细血管镜检查结果包括出血、巨大环和毛细血管消失，符合 SSc 的晚期表现。皮肤活检显示真皮纤维性增厚、小汗腺被捕获和纤维增厚。胸部高分辨率计算机断层扫描显示斑片状不定型气腔混浊和实变，主要累及下叶后基底部分，表现为间质性肺病。间接免疫荧光法检测到抗核抗体（ANA）阳性（1:160 核仁及均质核染色）和抗 Th/To 和抗 PM-Scl 抗体双阳性。根据儿科风湿病欧洲学会/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，该患者被诊断为弥漫性皮肤 SSc，并成功接受免疫抑制剂治疗，包括甲基强的松龙脉冲和静脉环磷酰胺。
我们首次遇到抗 PM-Scl 和抗 Th/To 抗体的青少年 SSc 病例。ILD 是此类自身抗体患者的典型特征；然而，弥漫性皮肤 SSc 和关节挛缩不典型相关。尽管存在 SSc 相关自身抗体有助于确定可能的器官受累并估计儿童的预后，但该病例表现出意想不到的临床发现。
