Martini Giorgia, Campus Simona, Raffeiner Bernd, Boscarol Gianluca, Meneghel Alessandra, Zulian Francesco
Paediatric Rheumatology Unit, Department for the Woman and Child Health, University of Padova, Italy.
Paediatric Department for Thalassaemia and Rare Diseases, Ospedale Microcitemico, Cagliari, Italy.
Clin Exp Rheumatol. 2017 Sep-Oct;35 Suppl 106(4):211-213. Epub 2017 Sep 29.
Pansclerotic morphoea (PM) is a subtype of juvenile localised scleroderma characterised by severe course with generalised full-thickness skin involvement and possible growth and functional impairment. PM treatment comprises a combination of immunosuppressive agents such as corticosteroids, methotrexate, mycophenolate mofetil, PUVA and antithymocyte globulin and biological agents used in off-label. A possible role of IL-6 in the regulation of firoblast differentiation and stimulation of collagen synthesis has been suggested and in patients with systemic sclerosis (SSc) the treatment with tocilizumab (TCZ) was associated to improvement of skin thickness and joint motion. We describe the first two cases of children with PM refractory to different immunosuppressive agents in which the use of TCZ reduced disease activity and stopped disease progression. Therefore, we suggest that an earlier use of this agent in such severe cases could be considered before irreversible sclerosis and tissue damage occurs.Juvenile localised scleroderma (JLS) comprises a group of autoimmune fibrosing conditions involving skin and subcutaneous tissues following an initial inflammatory reaction. Pansclerotic morphoea (PM), an extremely rare and severe subtype of JLS, is characterised by generalised full-thickness skin involvement that may extend over deeper tissues and bone with subsequent growth disturbance and disabling outcome. We describe the first two children with PM refractory to immunosuppressive treatments in which the off-label use of tocilizumab (TCZ), fully humanised anti IL-6R antibody, allowed to control the inflammation and stopped the extension of the disease.
泛硬化性硬斑病（PM）是青少年局限性硬皮病的一种亚型，其特点是病程严重，全身全层皮肤受累，可能出现生长和功能障碍。PM的治疗包括联合使用免疫抑制剂，如皮质类固醇、甲氨蝶呤、霉酚酸酯、补骨脂素紫外线A光化学疗法（PUVA）和抗胸腺细胞球蛋白，以及超说明书使用的生物制剂。已有研究表明白细胞介素-6（IL-6）在调节成纤维细胞分化和刺激胶原蛋白合成中可能起作用，在系统性硬化症（SSc）患者中，使用托珠单抗（TCZ）治疗可改善皮肤厚度和关节活动。我们描述了首例两例对不同免疫抑制剂难治的PM患儿，使用TCZ后疾病活动度降低，疾病进展停止。因此，我们建议在这种严重病例中，在不可逆硬化和组织损伤发生之前，可考虑更早使用该药物。青少年局限性硬皮病（JLS）是一组自身免疫性纤维化疾病，在初始炎症反应后累及皮肤和皮下组织。泛硬化性硬斑病（PM）是JLS一种极其罕见且严重的亚型，其特征是全身全层皮肤受累，可延伸至更深层组织和骨骼，随后出现生长障碍和致残后果。我们描述了首例两例对免疫抑制治疗难治的PM患儿，超说明书使用完全人源化抗IL-6受体抗体托珠单抗（TCZ）能够控制炎症并阻止疾病进展。
