硬化性粘液水肿是一种慢性进展性的系统性疾病
译者:范秋玉 校对:乔鹏燕 审核者:张莉芸
Scleromyxedema A chronic progressive systemic disease
Abstract BACKGROUND:Scleromyxedema is a rare connective tissue disease that may affect numerous internal organs in addition to the skin. The disease is almost exclusively associated with monoclonal gammopathy.MATERIAL AND METHODS:This retrospective study summarizes the clinical characteristics of four patients withscleromyxedema. In all of the patients a systematic serological and apparative check-up was performed.RESULTS:The mean age of the four patients (three women and one man) was 51 years. In all cases, monoclonal gammopathy (3 cases of IgG lambda λ and 1 case of IgG kappa) was involved. In one patient, skin lesions were restricted to the upper part of the body and three patients had generalized disease. The internal organs of all patients were affected with fibrosis of the lungs, myositis and arthritis, peripheral polyneuropathy and hypomotility of the esophagus. The most effective forms of treatment in this patient collective were dexamethasone-pulse therapy, intravenous immunoglobulins and bortezomib. All patients had recurrences after finishing therapy. The mean observation period after the initial diagnosis of scleromyxedena was 6.25 years (range 2-11 years).CONCLUSION:Scleromyxedema is a rare multisystemic disease. The heterogeneous affection of internal organs necessitates a comprehensive check-up. The response to recently published treatment strategies is low and recurrences after finishing therapy are frequent.
摘要 背景:硬化性粘液性水肿是一个罕见的结缔组织病,多数内脏和皮肤均可受累。这种疾病大多与单克隆丙种球蛋白病有关。材料与方法:运用回顾性分析的统计学方法对4例硬化性粘液性水肿患者的临床特点进行了总结,并对患者进行了全面的血清学和各个脏器检查。这4例患者的平均年龄是51岁(3例女性患者,1例男性患者)。所有的患者中均有丙种球蛋白病(3例患者IgG λ and 1 例患者IgG kappa)。1例患者皮肤损害的表现集中在上半身(胸腹部、背部及双上肢),3例患者累及全身皮肤。所有的患者均有内脏受损,包括肺间质纤维化、肌炎、关节炎、外周多发性神经病和食管运动功能减弱。最有效的治疗方法是地塞米松冲击治疗,静脉注射免疫球蛋白和硼替佐米。在治疗结束后,几乎所有的病人都会复发。在最初诊断为硬化性粘液性水肿后的平均观察时间是6.25年(在2-11年之间)。结论:硬化性粘液性水肿是一个罕见的多系统性疾病。需要进行一项全面的检查来评估硬化性粘液性水肿对内脏的损害情况。最新文献报道关于硬化性粘液性水肿最新发表的治疗策略的可取度很低和治疗后的复发率也很高。