每日一题_2023.11.16

A 53-year-old man presented with a 3-year history of an itchy rash, Raynaud’s phenomenon, dysphagia, and a burning sensation in his hands. Physical examination was notable for firm, greasy papules across his forehead that led to the formation of glabellar grooves (left). There were waxy papules on his hands, with associated skin thickening and finger flexion contractures (right). Similar skin changes were seen on his nose, lips, ears, trunk, and feet. There was no telangiectasia or calcinosis. Sensory neuropathy was present in his hands, arms, and face. Tests of thyroid function were normal. Serum protein electrophoresis with immunofixation identified an IgG-monoclonal gammopathy, and a bone marrow biopsy was normal. What is the most likely diagnosis?

患者男，53岁，因皮疹发痒、雷诺现象、吞咽困难和双手烧灼感3年就诊。体格检查发现前额有坚硬的油腻丘疹，并形成眉间沟(左)。手部有蜡质丘疹，伴有皮肤增厚和手指屈曲挛缩(右)。鼻子、嘴唇、耳朵、躯干和脚也有类似的皮肤改变。无毛细血管扩张或钙质沉着。他的手、手臂和面部有感觉神经病变。甲状腺功能检查正常。经免疫固定的血清蛋白电泳鉴定为igg -单克隆免疫球蛋白血症，骨髓活检正常。最有可能的诊断是什么?

A. Light chain (AL) amyloidosis 轻链(AL)淀粉样变性

B. Multiple myeloma 多发性骨髓瘤

C. Scleredema 硬化病

D. Scleromyxedema 硬化性粘液水肿

E. Systemic sclerosis 系统性硬化症

答案解析：

硬化性黏液性水肿是一种原发性皮肤黏液沉积症，通常与副蛋白血症相关。这种类型的皮肤硬化性疾病可能会引起皮肤外症状，如该患者所见。虽然最初静脉输入免疫球蛋白的缓解程度很小，但4个月后，来那度胺治疗使症状减轻，副蛋白血症减少。

正确答案：D