Immunotherapy-refractory vacuolar myopathy with mucin deposition in scleromyxedema: a possible role of fibroblast growth factor 2
Immunotherapy-refractory vacuolar myopathy with mucin deposition in scleromyxedema: a possible role of fibroblast growth factor 2
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硬化粘液水肿中伴有粘蛋白沉积的免疫治疗难治性空泡肌病：成纤维细胞生长因子 2 的可能作用
DOI：
10.1111/neup.12659
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发表时间：
2020
期刊：
影响因子：
2.3
通讯作者：
et al.
中科院分区：
文献类型：
--
作者：
Yanagihara Y;Hayashi S;Kira J;et al.
硬化性粘液水肿（SME）的特征是皮肤上广泛的蜡样丘疹，真皮上层有粘蛋白沉积。报告了21例肌病SME病例;其中6例显示空泡形成，2例显示粘蛋白沉积。我们报告了首例伴有粘蛋白相关空泡纤维的SME病例。一名45岁的SME女性出现进行性近端肌无力。肌肉活检显示肌病的变化，在受影响的肌肉纤维中有许多与粘蛋白相关的空泡，这些空泡对成纤维细胞生长因子2（FGF 2）进行了大量免疫染色。尽管反复高剂量口服泼尼松龙和静脉注射免疫球蛋白，肌无力持续复发，最终因充血性心力衰竭死亡。免疫疗法在我们的病例中部分有效，尽管它是难治性的。SME肌病患者的治疗反应各不相同;然而，由于其罕见性，其机制仍有待阐明。为了解决这一问题，我们研究了肌肉标本的免疫化学，并检测到我们的患者的受影响的肌肉纤维中的FGF 2的显着上调。FGF 2是一种强大的肌生成抑制剂，可能对肌纤维再生产生抑制作用，这可能使我们患者的SME肌病难以治疗。
Scleromyxedema (SME) is characterized by widespread waxy papules on the skin, with mucin deposits in the upper dermis. Twenty‐one SME cases of myopathy have been reported; of the cases, six showed vacuolar formation, and two showed mucin deposition. We report the first case of SME with mucin‐associated vacuolated fibers. A 45‐year‐old woman with SME developed progressive proximal muscle weakness. Muscle biopsy revealed myopathic changes with numerous vacuoles linked to mucin in the affected muscle fibers, which were heavily immunostained for fibroblast growth factor 2 (FGF2). Despite repeated high dose oral prednisolone and intravenous immunoglobulin administrations, muscle weakness recurred continuingly, culminating in death due to congestive heart failure. Immunotherapy was partly effective in our case, although it was refractory. Treatment responsiveness in patients with SME myopathy varied; however, due to its rarity, the mechanism remains to be elucidated. To address this issue, we investigated muscle specimens immunohistochemically and detected marked upregulation of FGF2 in the affected muscle fibers of our patient. FGF2, a strong myogenesis inhibitor, may exert a suppressive effect on muscle fiber regeneration, which may have conferred refractoriness to our patient's SME myopathy.