Hummers Laura K
Division of Rheumatology, Department of Medicine, Johns Hopkins Scleroderma Center, Johns Hopkins University, Baltimore, Maryland, USA.
Curr Opin Rheumatol. 2014 Nov;26(6):658-62. doi: 10.1097/BOR.0000000000000118.
To synthesize the current known data on pathogenesis and treatment of scleromyxedema. This review will also highlight the clinical presentation, systemic features and outcomes and distinguishing features between scleromyxedema and scleroderma, as a common mimic.
Most recent publications have focused on describing treatment responses with novel therapies, with the majority of cases reporting success with intravenous immunoglobulin. However, other therapies suggest promise as well in case reports, including bortezomib, thalidomide and stem cell transplantation. There is little information on pathogenesis; however, focus has been on the relationship between the mucin deposition and the monoclonal immunoglobulins that are seen in almost all patients with scleromyxedema.
Scleromyxedema is a rare mucinous deposition disorder that shares clinical features with scleroderma but has important distinguishing features in clinical presentation and major organ complications that should be recognized. Patients typically respond well to therapy as highlighted in several larger series, but poor outcomes are reported in a few cases.
综合目前已知的关于硬化性黏液水肿发病机制和治疗的数据。本综述还将重点介绍其临床表现、全身特征和预后，以及硬化性黏液水肿与硬皮病（一种常见的相似疾病）之间的鉴别特征。
最近的出版物主要集中描述新型疗法的治疗反应，大多数病例报告静脉注射免疫球蛋白取得成功。然而，其他疗法在病例报告中也显示出前景，包括硼替佐米、沙利度胺和干细胞移植。关于发病机制的信息很少；然而，重点一直放在几乎所有硬化性黏液水肿患者中所见的黏蛋白沉积与单克隆免疫球蛋白之间的关系上。
硬化性黏液水肿是一种罕见的黏液沉积性疾病，与硬皮病有共同的临床特征，但在临床表现和主要器官并发症方面有重要的鉴别特征，应予以识别。正如几个较大系列研究所强调的，患者通常对治疗反应良好，但也有少数病例报告预后不良。
