Autologous Stem Cell Transplant for Severe, Progressive Juvenile Systemic Sclerosis

Juvenile systemic sclerosis (jSSc), an autoimmune connective tissue disorder associated with life-threatening multiorgan inflammation/fibrosis, is rare and affects approximately 3 per 1,000,000 children. Response to immunosuppressive therapy is variable. Treatment options for aggressive/refractory cases are limited. While autologous stem cell transplant (ASCT) is a safe potential treatment option for adult patients with systemic sclerosis (SS), published outcomes in children are limited. This is case report to illustrate the safety and outcome of ASCT in jSSC. Medical chart was reviewed. A 17-year-old male with SCL-70 positive jSSc presented at age 13 with generalized rash, bilateral knee pain and subjective muscle weakness . Exam findings and subsequent evaluations were consistent with jSSc including the presence of restrictive lung disease . He developed progressive disease including weight loss, scleroderma with contractures, and dyspnea on exertion while receiving standard therapy with methotrexate and prednisone requiring the addition of mycophenolate . With no measurable improvement after 1 year, tocilizumab was started with mild cutaneous response only. Due to the severity of his disease and progressive course, he underwent ASCT with supportive care as previously described (Figure 1). He tolerated ASCT well without major complications and achieved neutrophil (day+11) and platelet engraftment (day +12). No transplant related complications including infection, veno-occlusive disease or severe mucositis were noted. Pre and post ASCT findings are shown in Figure 2 with improvement in objective laboratory and clinical assessments across parameters. At one-year post-ASCT his modified Rodnan score (mRs) has improved from 18 to 1, with significant improvement in skin tightness and joint mobility; his oral aperture increased from 29 to 36 mm. While chest imaging may indicate mild progressive interstitial lung disease , his pulmonary function is stable augmented by improving nutritional status . G-tube placement is planned for optimal nutritional support. While his swallow evaluation is improved, he continues to experience early satiety though this is also subjectively improved. He continues physical and occupational therapy (Figure 2). He is expected to graduate high school this year and plans to start psychotherapy related to school re-integration. He has evidence of immune reconstitution and has not had any infections. ASCT in adults with SS have shown improved event free survival , overall survival , and quality of life in terms of preventing and delaying heart failure, pulmonary arterial hypertension , and improvement of lung functions. In adolescent young adult patients with progressive treatment refractory jSSc, ASCT may be a safe treatment option.