Systemic Sclerosis Precedes POEMS Syndrome
Systemic Sclerosis Precedes POEMS Syndrome
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系统性硬化症先于 POEMS 综合征
DOI：
10.1017/cjn.2020.206
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Hattori Nobutaka
中科院分区：
文献类型：
--
作者：
Yamashita Yuri;Takahashi Yoshihiro;Tsunemi Taiji;Shirane Shuichi;Nakazato-Taniguchi Tomoko;Taniguchi Daisuke;Takanashi Masashi;Sasaki Makoto;Komatsu Norio;Hattori Nobutaka
POEMS综合征是一种以多发性神经病、器官肿大、内分泌病、单克隆丙种球蛋白病和皮肤改变为特征的多系统疾病。由于皮肤表现，特别是皮肤增厚和色素沉着过度，有时与我们在系统性硬化症（SSc）患者中看到的难以区分，这些表现被称为硬皮病样皮肤变化。[1]除了皮肤外观上的这些相似性，B细胞的异常活化和分化以及产生抗体的浆细胞的产生在这两种疾病中发挥了作用，表明存在共同的致病机制。然而，在POEMS综合征中SSc特异性抗体阳性是相当罕见的。在这里，我们报告了一个病人谁最初被诊断为SSc由于双手皮肤增厚和雷诺氏现象与抗着丝粒抗体，SSc的特异性抗体，最终发展成POEMS综合征。66岁时，右侧面部和右手出现局灶性癫痫发作。她的脑部磁共振成像（MRI）显示左额叶钆增强病变，无明显占位效应（图1 B）。脑活检标本的病理学检查显示正常脑组织（图1 E-G）。抗癫痫药对预防癫痫复发有效。一年后，出现下肢足水肿、雷诺现象和双手硬皮病。她在神经上是自由的。血液检查检测到高滴度的抗核抗体和抗着丝粒抗体（× 280），从而诊断为SSc。四个月后，足底感觉迟钝，并逐渐进展，这使她来到我院。观察到香肠般的手指以及双手和双脚色素沉着过度（图1A）。双小腿也出现凹陷水肿和多毛。视网膜检查未发现任何异常。神经系统检查显示远端优势肌无力和感觉丧失，四肢深腱反射减少。血液检查显示肾功能不全（BUN 23 mg/dL，Cre 0.9 mg/dL）和pro-BNP值升高1066 pg/mL（正常范围0.0-125.0 pg/mL）。免疫球蛋白水平在正常范围内，然而，免疫电泳（IEP）和流式细胞术检测到伊加-λ单克隆蛋白。此外，血清血管内皮生长因子（VEGF）水平升高至4560 pg/mL（正常范围约38.3 pg/mL）。脑脊液（CSF）分析显示蛋白水平升高至106 mg/dL（正常范围< 45 mg/dL），细胞计数正常。左侧额叶的异常病变在脑MRI上消失（图1C），表明可能是短暂性脑缺血发作和/或局灶性癫痫导致初始MRI病变。然而，24小时霍尔特心电图、心脏、颈动脉和腿静脉超声未能检测到栓塞性卒中的危险因素。胸部和腹部计算机断层扫描（CT）显示肝脾肿大和心包积液（图1D）。全身CT和X线检查未显示任何骨质疏松。神经传导研究（NCS）的结果显示正中神经、尺神经、胫神经和腓神经中的感觉和运动神经传导速度的弥漫性降低，具有延长的F波潜伏期，表明感觉和运动脱髓鞘性多发性神经病（图11和表1）。肌电图显示肱二头肌急性失神经支配。脑电图未见异常。骨髓活检显示浆细胞聚集...
POEMS syndrome is a multisystem disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. Because skin manifestations, especially skin thickening and hyperpigmentation, are sometimes indistinguishable from what we see in patients with systemic sclerosis (SSc), these appearances have been referred to as scleroderma-like skin changes. 1 Besides these similarities in cutaneous appearances, abnormal activation and differentiation of B cells and generation of antibody-producing plasma cells played a role in both disorders, indicating the existence of a common pathogenic mechanism. It is, however, quite rare that SSc-specific antibodies are positive in POEMS syndrome. Here, we report a patient who was initially diagnosed as SSc due to skin thickening of both hands and Raynaud’s phenomenon with anticentromere antibody, an antibody specific for SSc, eventually developed into the POEMS syndrome. At the age of 66, a focal seizure occurred in the right side of face and right hand. Her brain magnetic resonance imaging (MRI) showed a gadolinium-enhancing lesion in the left frontal lobe without apparent mass effect (Figure 1 B). Pathological examination of a brain-biopsy specimen revealed a normal brain tissue (Figure 1 E–G). The antiepileptic drug was effective for preventing recurrence of seizures. A year after, pedal edema in lower extremities, Raynaud’s phenomenon, and scleroderma in both hands appeared. She was neurologically free. Blood examination detected high titers of antinuclear antibody and anticentromere antibody (× 280), leading to the diagnosis of SSc. Four months later, dysesthesia in soles presented and gradually progressed, which brought her to our hospital. Sausage-like fingers and hyperpigmentation of both hands and feet were observed (Figure 1 A). Pitting edema and hairiness on both lower legs were also present. Retinal examination did not reveal any abnormalities. Neurological examination revealed distal dominant muscle weakness and sensory loss and decreased deep tendon reflexes in four extremities. Blood examination showed renal dysfunction (BUN 23 mg/dL, Cre 0.9 mg/dL) and an elevated pro-BNP value of 1066 pg/mL (normal range 0.0–125.0 pg/mL). The immunoglobulin levels were within a normal range, however, an IgA-λ monoclonal protein was detected by immunoelectrophoresis (IEP) and flow cytometry. In addition, serum vascular endothelial growth factor (VEGF) level was raised to 4560 pg/mL (normal range≦ 38.3 pg/mL). Cerebrospinal fluid (CSF) analysis showed an elevated protein level of 106 mg/dL (normal range< 45 mg/dL) with normal cell count. The abnormal lesion in the left frontal lobe disappeared on the brain MRI (Figure 1 C), suggesting the possibility of a transient ischemic attack and/or a focal epilepsy causing the initial MRI lesion. However, 24-hour Holter electrocardiography; cardiac, carotid, and leg vein ultrasound failed to detect risk factors for embolic strokes. Chest and abdominal computed tomography (CT) showed hepatosplenomegaly and pericardial fluid (Figure 1 D). Whole-body CT and X-ray did not show any osteosclerosis. The results of nerve conduction study (NCS) showed diffuse reduction in sensory and motor nerve conduction velocities in median, ulnar, tibial, and peroneal nerves with prolonged F wave latencies, suggesting sensory and motor demyelinating polyneuropathy (Figure 1 I and Table 1). Electromyography (EMG) showed acute denervation in biceps brachii. No abnormalities were observed in electroencephalogram. A bone marrow biopsy revealed plasma cell aggregation and …
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皮肤硬化是 POEMS 综合征的表现
DOI：
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发表时间：
2012
期刊：
Journal of dermatology (Print)
影响因子：
--
作者：
M. Hasegawa;Hidemitsu Orito;Keiko Yamamoto;T. Matsushita;Y. Hamaguchi;M. Fujimoto;K. Takehara
通讯作者：
K. Takehara
影响因子：
--
作者：
CROW, RS
通讯作者：
CROW, RS
硬皮病方面的综合症 POEMS révélé
影响因子：
0.9
作者：
P. Toussaint;V. Sibaud;L. Labbé;M. Géniaux
通讯作者：
M. Géniaux
影响因子：
50.3
作者：
Lohr JG;Stojanov P;Carter SL;Cruz-Gordillo P;Lawrence MS;Auclair D;Sougnez C;Knoechel B;Gould J;Saksena G;Cibulskis K;McKenna A;Chapman MA;Straussman R;Levy J;Perkins LM;Keats JJ;Schumacher SE;Rosenberg M;Multiple Myeloma Research Consortium;Getz G;Golub TR
通讯作者：
Golub TR