Szamosi Szilvia, Maródi László, Czirják László, Ellenes Zoltán, Szücs Gabriella
Third Department of Medicine, Division of Rheumatology, University of Debrecen Medical Center, 22 Moricz Zs Street, Debrecen, H-4004, Hungary.
Ann N Y Acad Sci. 2005 Jun;1051:229-34. doi: 10.1196/annals.1361.063.
Juvenile systemic sclerosis (jSSc) is a rare form of systemic sclerosis (also known as scleroderma). Fewer than 10% of SSc cases have their onset before age 20 and fewer than 2% before the age of 10. Few case reports and cohort studies on jSSc have been published. Our objective was to assess the clinical and laboratory characteristics of eight cases of juvenile-onset SSc followed up at our institution. Clinical manifestations of SSc were recorded, and immunologic laboratory tests including antinuclear antibodies (ANAs), anti-centromere antibodies (ACAs), and anti-Scl-70 antibodies were assessed. The female-to-male ratio was 7:1, and age at onset ranged from 3-17 years. At the time of analysis, 2 of 8 patients were still under 18 years of age, and 6 of 8 patients were adults. The mean follow-up period from the onset of disease was 19.1 years. Raynaud's phenomenon was present in all cases. Only 2 of 8 patients had diffuse SSc. During follow-up, pulmonary fibrosis developed in only 2 of 8 patients and cardiovascular manifestations in 3 of 8 patients. Secondary sicca syndrome was present in 2 of 8 cases. Regarding immunologic laboratory markers, 7 of 8 patients were ANA positive. However, none of these patients ever carried anti-Scl-70 antibodies, and only 2 of 8 patients had ever had ACA seropositivity. Our results suggest that in jSSc, Raynaud's phenomenon is more severe, whereas internal organ manifestations and the frequency of autoantibodies are far less pronounced than in adult-onset SSc. Also, the survival rate and final outcome of patients with jSSc appear to be better than those in patients with adult-onset SSc.
青少年系统性硬化症（jSSc）是系统性硬化症（也称为硬皮病）的一种罕见形式。不到10%的系统性硬化症病例在20岁之前发病，不到2%在10岁之前发病。关于青少年系统性硬化症的病例报告和队列研究发表较少。我们的目的是评估在我们机构随访的8例青少年起病的系统性硬化症患者的临床和实验室特征。记录系统性硬化症的临床表现，并评估包括抗核抗体（ANA）、抗着丝点抗体（ACA）和抗Scl-70抗体在内的免疫实验室检查。男女比例为7:1，发病年龄在3至17岁之间。在分析时，8例患者中有2例仍未满18岁，8例患者中有6例为成年人。从疾病发作开始的平均随访期为19.1年。所有病例均出现雷诺现象。8例患者中只有2例患有弥漫性系统性硬化症。在随访期间，8例患者中只有2例出现肺纤维化，8例患者中有3例出现心血管表现。8例中有2例出现继发性干燥综合征。关于免疫实验室指标，8例患者中有7例ANA呈阳性。然而，这些患者均未携带抗Scl-70抗体，8例患者中只有2例曾有ACA血清阳性。我们的结果表明，在青少年系统性硬化症中，雷诺现象更为严重，而内脏表现和自身抗体的频率远不如成人起病的系统性硬化症明显。此外，青少年系统性硬化症患者的生存率和最终结局似乎优于成人起病的系统性硬化症患者。
