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具有临床意义的单克隆丙种球蛋白病——硬化性黏液水肿:一例报告及文献综述

Monoclonal Gammopathies of Clinical Significance-Scleromyxedema: A Case Report and Literature Review.

作者信息

Liang Shanshan, Zeng Jingjing, Zhong Peiying, Jia Chengyao, Zhang Li

机构信息

Department of Laboratory Medicine West China Hospital, Sichuan University Chengdu China.

Department of Laboratory Medicine The First College of Clinical Medical Science, China Three Gorges University Yichang China.

出版信息

Clin Case Rep. 2025 Aug 3;13(8):e70741. doi: 10.1002/ccr3.70741. eCollection 2025 Aug.

DOI:10.1002/ccr3.70741
PMID:40761679
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12318666/
Abstract

Scleromyxedema is an uncommon, chronic connective tissue disorder with an obscure etiology. It is distinguished by fibromyxoid skin lesions and elevated serum monoclonal immunoglobulin levels. The condition's rarity limits epidemiological data, making prevalence and incidence assessment difficult. Herein, we detail a clinical case of scleromyxedema, encompassing diagnosis and treatment, to augment medical understanding of this rare entity. The aim of this study is to delve into the complexities of diagnosing scleromyxedema, encompassing its diverse clinical presentations, with the goal of refining diagnostic acumen and expediting the identification process. This, in turn, mitigates the risks associated with diagnostic delays. Moreover, the imperative of instituting pertinent therapeutic measures is highlighted as a fundamental aspect of patient management, underscoring the significance of a tailored approach to treatment. Concurrently, this endeavor demands rigorous precision from clinical laboratory staff. The accurate provision of laboratory data is essential to prevent oversights and misinterpretations in diagnosing this rare condition.

摘要

硬化性黏液水肿是一种罕见的慢性结缔组织疾病,病因不明。其特征为纤维黏液样皮肤病变和血清单克隆免疫球蛋白水平升高。该疾病的罕见性限制了流行病学数据,使得患病率和发病率评估困难。在此,我们详细介绍一例硬化性黏液水肿的临床病例,包括诊断和治疗,以增进医学对这一罕见疾病的认识。本研究的目的是深入探讨硬化性黏液水肿诊断的复杂性,包括其多样的临床表现,目标是提高诊断敏锐度并加快识别过程。这反过来又降低了诊断延迟相关的风险。此外,强调采取相关治疗措施的必要性是患者管理的一个基本方面,突出了量身定制治疗方法的重要性。同时,这项工作要求临床实验室工作人员具备严格的精确性。准确提供实验室数据对于防止在诊断这种罕见疾病时出现疏忽和误解至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbdd/12318666/3a43dc2f3055/CCR3-13-e70741-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbdd/12318666/3a43dc2f3055/CCR3-13-e70741-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbdd/12318666/3a43dc2f3055/CCR3-13-e70741-g001.jpg

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本文引用的文献

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Plasma cell-directed therapies induce profound clinical and durable responses in patients with severe or relapsed/refractory scleromyxedema.针对浆细胞的疗法可使重度或复发/难治性硬化性黏液水肿患者产生显著的临床反应且疗效持久。
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Case report: Scleromyxedema associated with a monoclonal gammapathy: Successful treatment with intravenous immunoglobulins.病例报告:硬肿性黏液水肿伴单克隆丙种球蛋白血症:静脉注射免疫球蛋白治疗成功。
Front Immunol. 2023 Jan 13;13:1099918. doi: 10.3389/fimmu.2022.1099918. eCollection 2022.
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硬肿病的临床特征与治疗结果:一项10年回顾性调查
Case Rep Dermatol. 2022 Jun 27;14(2):178-183. doi: 10.1159/000525211. eCollection 2022 May-Aug.
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An unusual case of granulomatous scleromyxedema.一例罕见的肉芽肿性硬化性黏液水肿病例。
JAAD Case Rep. 2022 Jul 2;26:66-69. doi: 10.1016/j.jdcr.2022.06.022. eCollection 2022 Aug.
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New insights on scleromyxedema.硬皮病性黏液水肿的新见解。
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Scleromyxedema.硬化性黏液水肿
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Scleromyxedema Without Monoclonal Gammopathy Treated with Intravenous Immunoglobulins.硬肿性黏液水肿伴单克隆丙种球蛋白血症治疗的静脉注射免疫球蛋白。
Acta Dermatovenerol Croat. 2021 Apr;291(1):51-53.
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