Successful rituximab therapy for skin sclerosis and myositis in a patient with systemic sclerosis, myositis and Sjögren’s syndrome associated with autoimmune polyglandular syndrome

Abstract

Abstract Background: Autoimmune polyendocrine syndromes (APSs) are relatively rare clinical conditions characterized by functional impairment of multiple endocrine glands due to loss of immune tolerance. These syndromes are broadly categorized as rare monogenic forms, such as APS-1, and a more common polygenic variety, APS-2. In APS-2, many autoimmune conditions can develop, including autoimmune rheumatic diseases. However, systemic sclerosis and myositis can occur as quite rarecomplications, for which no treatment strategy has yet been established. Case presentation: A 25-year-old man who had been diagnosed as having type 1 diabetes developed finger stiffness. Although the subjective symptoms were relatively mild, extensive examinations including various autoantibodies, hormones and biopsy of the skin and minor salivary glands revealed that he had APS-2 (type 1 diabetes and autoimmune thyroid disease) accompanied by systemic sclerosis, myositis and Sjögren’s syndrome. Rituximab therapy was initiated for the progressive skin sclerosis, and this resulted in significant of both the sclerosis and the myositis. Conclusion: Various autoimmune rheumatic diseases can develop in APS-2. Early diagnosis and immunomodulatory therapy may arrest the autoimmune process before irreversible organ damage has occurred, and rituximab appears to be a promising therapy for autoimmune rheumatic diseases associated with APS-2.