Background Clinical presentation of systemic sclerosis in overlap syndrome with severe skin involvement can be very severe while standard treatment could be ineffective with necessity to apply autologous stem-cell transplantation (ASCT).
Objectives After moderate respiratory infection, 6 years old boy PM has developed anorexia, dry mouth and eyes syndrome followed with long-lasting intermittent temperature and heavy weight loss. Few months later he developed bilateral lymph node and parotid gland enlargement followed by both feet and hands swelling and liver and spleen enlargement. ESR was 24, ANA positive, LKM1 antibodies positive, LAC positive with trombophillia type coagulation defect. Echocardiography has shown thrombus in right atrium and he was found to be heterozygote for MTHFR gene mutation. Final diagnosis was not established and steroids 0,3mg/kg/day were commenced. One year later skin on feet and hands became purple and erytematous, extremely dry with squamouse plaques with flexion contractures of the fingers. Proximal muscle weakness with Achilles tendons shortening was present. Skin on the face and trunk was tight, erythematous, sqamous with reddish eyelids; extreme kserostomia and kserophtalmia were present with limited possibility to open mouth and extreme parotid gland enlargement. Muscle and skin biopsy has shown sclerodermatous changes in skin, vasculitis and panniculitis in subcutaneous layer and DM type of inflammatory myophaty. EMNG test was extremely myophatic. Lung CT has revealed first signs of lung fibrosis. During the last seven years he had severe episodes of ulcerous skin vasculitis and was treated with multiple methyl-prednisolone boluses and oral steroids in combination with different DMARDs (methotrexate, CysA, azathioprine, cyclophosphamide pulses), as well as several rituximab cycles, but with limited response. During the time skin involvement was progressive with almost all skin affected, with sclerodactilia, joint contractures and extreme disability. ASCT, as the last treatment option, was performed two years ago. After ASCT our patient is clinically stabile, without further progression of skin changes, reduced steroid treatment (5mg/day) and only persistent side effect present is hypogamaglobulinemia with necessity for iv immunoglobulin substitution.
Disclosure of Interest None declared
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