Blum Marissa, Wigley Fredrick M, Hummers Laura K
From Department of Medicine (MB, FMW, LKH), Division of Rheumatology (FMW, LKH), Johns Hopkins University School of Medicine, Baltimore, Maryland.
Medicine (Baltimore). 2008 Jan;87(1):10-20. doi: 10.1097/MD.0b013e3181630835.
Scleromyxedema is a rare disease characterized by mucin deposition in skin and other organs and the production of a monoclonal IgG protein. Herein we describe our experience with a series of patients with this condition and specifically focus on the use of intravenous immunoglobulin (IVIG) for long-term management. We retrospectively reviewed the clinical manifestations of 10 patients evaluated at our center, highlighting the potential organ involvement. We found that systemic manifestations of the disease are common and often mimic those seen in systemic sclerosis. Eight of the 10 patients were treated with IVIG with a 100% complete or partial response rate. Treatment was initiated at a dose of 2 g/kg (total dose, divided over 2-5 days) for 6 months of initial therapy. In each case where IVIG was used, maintenance infusions are required to preserve disease control. We highlight the long-term use of this medication in several cases. We discuss the potential therapeutic benefit of IVIG in this condition, where the pathophysiology of the disease is poorly understood, and underscore new data on the potential mechanism of action of IVIG therapy.
硬化性黏液水肿是一种罕见疾病,其特征为皮肤和其他器官中有黏蛋白沉积以及产生单克隆IgG蛋白。在此,我们描述了一系列患有这种疾病的患者的治疗经验,并特别关注静脉注射免疫球蛋白(IVIG)在长期治疗中的应用。我们回顾性分析了在我们中心评估的10例患者的临床表现,重点关注潜在的器官受累情况。我们发现该疾病的全身表现很常见,且常常类似于系统性硬化症的表现。10例患者中有8例接受了IVIG治疗,完全或部分缓解率为100%。初始治疗剂量为2 g/kg(总剂量,分2 - 5天给药),持续6个月。在每例使用IVIG的病例中,都需要维持输注以保持疾病得到控制。我们强调了在几例病例中该药物的长期使用情况。我们讨论了IVIG在这种疾病中的潜在治疗益处,因为该疾病的病理生理学尚不清楚,并强调了关于IVIG治疗潜在作用机制的新数据。