中国局限性硬皮病诊断与治疗指南(2026版)

Chinese Guideline for the Diagnosis and Treatment of Localized Scleroderma (2026 Edition)

  • 摘要: 局限性硬皮病(localized scleroderma,LoS)是一类以皮肤及皮下组织炎症、硬化和萎缩为主要特征的疾病,可累及皮下脂肪、筋膜、肌肉、骨骼,以及眼、神经系统和颅颌面部等皮肤外结构,部分患者可遗留萎缩畸形,影响外观及功能。本指南在系统检索国内外相关文献、总结现有证据并结合我国临床实践的基础上,经多学科专家多轮讨论与修订,通过改良德尔菲法投票形成。指南围绕LoS的流行病学、病因与发病机制、临床分型、诊断与鉴别诊断、实验室及影像学评估、活动度与严重度评估、治疗原则与治疗手段以及长期随访等方面提出推荐意见。作为我国LoS诊疗领域的首部指南,本指南强调基于疾病活动度、严重程度、受累深度及部位,并结合功能与外观风险进行分层评估和个体化管理;对于存在深部组织受累、头面部线状病变及肌肉骨骼或神经系统受累等高风险患者,推荐开展多学科协作诊疗。本指南旨在为我国临床医师开展LoS的规范化诊断、治疗、随访及全程管理提供参考,并将根据国内外研究进展持续更新。

     

    Abstract: Localized scleroderma (LoS) is a disease characterized by inflammation, sclerosis, and atrophy of the skin and subcutaneous tissues. It may involve deeper structures such as subcutaneous fat, fascia, muscle, and bone, as well as extracutaneous structures including the eyes, nervous system, and craniofacial region. Some patients may develop atrophic deformities, leading to functional impairment and cosmetic concerns. This guideline was developed through systematic literature review, evidence synthesis, and integration with current clinical practice in China, followed by multiple rounds of multidisciplinary expert discussion, revision, and consensus achieved using a modified Delphi method. The guideline provides recommendations on epidemiology, etiology and pathogenesis, clinical classification, diagnosis and differential diagnosis, laboratory and imaging assessment, evaluation of disease activity and severity, treatment principles and therapeutic approaches, and long-term follow-up of LoS. As the first national guideline in China for the diagnosis and management of LoS, it emphasizes stratified assessment and individualized management based on disease activity, severity, depth and location of involvement, as well as the risk of functional and cosmetic impairment. Multidisciplinary management is recommended for high-risk patients, including those with deep tissue involvement, craniofacial linear lesions, or musculoskeletal and neurological involvement. This guideline aims to support standardized diagnosis, treatment, follow-up, and comprehensive management of LoS in clinical practice in China, and will be updated regularly in accordance with emerging evidence.

     

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