Abstract：
OBJECTIVE: To compare the clinical and laboratory features of paediatric SSc sine scleroderma (ssJSSc) with adult-onset ssSSc.
METHODS: Demographic, clinical and laboratory data of ssJSSc, retrospectively retrieved from our hospital medical records, case reports from the literature and from the Pediatric Rheumatology European Society JSSc registry, were compared with the Padua cohort of adult patients with ssSSc. Patients were defined as having ssSSc if they never had skin involvement but all the following features: (i) RP and/or digital vasculopathy, (ii) positive ANA, (iii) internal organs involvement typical of scleroderma and (iv) no other defined CTD.
RESULTS: Eighteen juvenile and 38 adult-onset ssSSc patients, mean disease duration 5.8 and 9.7 years, respectively, entered the study. The frequency of females affected was significantly lower in ssJSSc (38.9% vs 89.5%, P < 0.0001). When compared with adults, ssJSSc displayed fewer SSc-specific capillaroscopy abnormalities (68.8% vs 94.7%, P = 0.02) while having significantly higher vascular (digital pitting scars, ulcers 35.3% vs 10.5%, P = 0.042), respiratory (50.0% vs 23.7%, P = 0.02) and cardiac (50.0% vs 2.6%, P < 0.0001) involvement. The outcome was significantly worse in ssJSSc as six patients (33%) died (n = 3) or reached an end-stage organ failure (n = 3) in comparison with only two deaths (5.3%) in the adult cohort. ACA were significantly lower in children (20.0% vs 68.4%, P = 0.001) while no difference was noted for other SSc-specific autoantibodies.
CONCLUSIONS: Compared with adults where ssSSc generally has an indolent course, children present with aggressive disease that heralds a worse prognosis characterized by high cardiorespiratory morbidity and mortality.
METHODS: Demographic, clinical and laboratory data of ssJSSc, retrospectively retrieved from our hospital medical records, case reports from the literature and from the Pediatric Rheumatology European Society JSSc registry, were compared with the Padua cohort of adult patients with ssSSc. Patients were defined as having ssSSc if they never had skin involvement but all the following features: (i) RP and/or digital vasculopathy, (ii) positive ANA, (iii) internal organs involvement typical of scleroderma and (iv) no other defined CTD.
RESULTS: Eighteen juvenile and 38 adult-onset ssSSc patients, mean disease duration 5.8 and 9.7 years, respectively, entered the study. The frequency of females affected was significantly lower in ssJSSc (38.9% vs 89.5%, P < 0.0001). When compared with adults, ssJSSc displayed fewer SSc-specific capillaroscopy abnormalities (68.8% vs 94.7%, P = 0.02) while having significantly higher vascular (digital pitting scars, ulcers 35.3% vs 10.5%, P = 0.042), respiratory (50.0% vs 23.7%, P = 0.02) and cardiac (50.0% vs 2.6%, P < 0.0001) involvement. The outcome was significantly worse in ssJSSc as six patients (33%) died (n = 3) or reached an end-stage organ failure (n = 3) in comparison with only two deaths (5.3%) in the adult cohort. ACA were significantly lower in children (20.0% vs 68.4%, P = 0.001) while no difference was noted for other SSc-specific autoantibodies.
CONCLUSIONS: Compared with adults where ssSSc generally has an indolent course, children present with aggressive disease that heralds a worse prognosis characterized by high cardiorespiratory morbidity and mortality.
摘要：
目的：比较儿童系统性硬化型硬皮病（ssJSSc）与成人发病型ssSSc的临床和实验室特征。
方法：人口统计学，ssJSSc的临床和实验室数据，回顾性地从我们医院的医疗记录中检索到，来自文献和PRESJSSc注册表的病例报告，与帕多瓦成年sssc患者队列进行比较。如果患者从未皮肤受累但具有以下所有特征，则将其定义为患有ssSSc：（I）雷诺现象（RP）和/或数字血管病变，（II）抗核抗体（ANA）阳性，（三）内脏器官受累典型的硬皮病，（四）无其他明确的结缔组织疾病。
结果：18名青少年和38名成年SSc患者，平均病程5.8年和9.7年，分别,进入研究。在ssJSSc中，受影响的女性频率显着降低（38.9％vs89.5％，p<0.0001)。与成年人相比，ssJSSc显示较少的SSc特异性毛细血管镜检查异常（68.8％vs94.7％，p=0.02），而血管明显较高（数字点蚀疤痕，溃疡35.3%vs10.5%，p=0.042),呼吸(50.0%vs23.7%，p=0.02）和心脏受累（50.0%vs2.6%，p<0.0001)。ssJSSc的结果明显更差，因为6例患者（33％）死亡（n=3）或达到终末期器官衰竭（n=3），而成人队列中只有2例死亡（5.3％）。儿童抗着丝粒抗体显著降低（20.0%vs68.4%，p=0.001），而其他SSc特异性自身抗体没有差异。
结论：与ssSSc通常具有惰性病程的成年人相比，儿童出现侵袭性疾病,预示着以高心肺发病率和死亡率为特征的较差预后.关键指标术语：硬皮病，青少年系统性硬化症，结果,心,肺动脉。
方法：人口统计学，ssJSSc的临床和实验室数据，回顾性地从我们医院的医疗记录中检索到，来自文献和PRESJSSc注册表的病例报告，与帕多瓦成年sssc患者队列进行比较。如果患者从未皮肤受累但具有以下所有特征，则将其定义为患有ssSSc：（I）雷诺现象（RP）和/或数字血管病变，（II）抗核抗体（ANA）阳性，（三）内脏器官受累典型的硬皮病，（四）无其他明确的结缔组织疾病。
结果：18名青少年和38名成年SSc患者，平均病程5.8年和9.7年，分别,进入研究。在ssJSSc中，受影响的女性频率显着降低（38.9％vs89.5％，p<0.0001)。与成年人相比，ssJSSc显示较少的SSc特异性毛细血管镜检查异常（68.8％vs94.7％，p=0.02），而血管明显较高（数字点蚀疤痕，溃疡35.3%vs10.5%，p=0.042),呼吸(50.0%vs23.7%，p=0.02）和心脏受累（50.0%vs2.6%，p<0.0001)。ssJSSc的结果明显更差，因为6例患者（33％）死亡（n=3）或达到终末期器官衰竭（n=3），而成人队列中只有2例死亡（5.3％）。儿童抗着丝粒抗体显著降低（20.0%vs68.4%，p=0.001），而其他SSc特异性自身抗体没有差异。
结论：与ssSSc通常具有惰性病程的成年人相比，儿童出现侵袭性疾病,预示着以高心肺发病率和死亡率为特征的较差预后.关键指标术语：硬皮病，青少年系统性硬化症，结果,心,肺动脉。
