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1型神经纤维瘤病的整形外科治疗

[Plastic surgical treatment of neurofibromatosis type 1].

作者信息

Längle Gregor, Gohritz Andreas, Gstöttner Clemens, Harnoncourt Leopold, Platzgummer Hannes, Azizi Amedeo A, Aszmann Oskar

机构信息

Universitätsklinik für Plastische, Rekonstruktive und Ästhetische Chirurgie, Medizinische Universität Wien, Wien, Österreich.

Plastische, Rekonstruktive und Ästhetische Chirurgie, Handchirurgie, Universitätsspital, Basel, Schweiz.

出版信息

Chirurgie (Heidelb). 2025 May;96(5):394-404. doi: 10.1007/s00104-024-02232-5. Epub 2025 Jan 28.

DOI:10.1007/s00104-024-02232-5
PMID:39875738
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12014788/
Abstract

Neurofibromatosis type 1 (NF1, formerly Recklinghausen's disease) is a genetic tumor predisposition syndrome in which the mutation of a tumor suppressor gene (neurofibromin) leads to the development of mostly benign neurofibromas of the skin and the central and peripheral nervous systems and malformations or tumors of other organ systems. Patients with NF1 should receive lifelong interdisciplinary care in specialized centers and important treatment decisions should be made by a regularly meeting interdisciplinary panel of experts. Plastic surgery plays an important role in the multidisciplinary management of all clinical forms of NF1-associated peripheral nerve sheath tumors, from cutaneous and subcutaneous to deep nodular and diffuse plexiform neurofibromas. Each patient requires individualized surgical planning, whereby the timing and extent of surgery are determined by the accompanying symptoms, functional and esthetic limitations, disease progression and potential malignant transformation. As any region of the body can be affected, the esthetic and reconstructive procedures required include a wide range of interventions, such as eyelid surgery and facial restoration to breast shaping and nerve reconstruction or motor replacement surgery. A timely surgical intervention can have a profoundly positive effect on the course of the disease and the quality of life of those affected and, in the case of transformation into a malignant peripheral nerve sheath tumor (MPNST), can even be lifesaving.

摘要

1型神经纤维瘤病(NF1,以前称为雷克林豪森病)是一种遗传性肿瘤易感综合征,其中肿瘤抑制基因(神经纤维瘤蛋白)的突变导致皮肤、中枢和周围神经系统出现大多为良性的神经纤维瘤,以及其他器官系统出现畸形或肿瘤。NF1患者应在专科中心接受终身跨学科护理,重要的治疗决策应由定期召开会议的跨学科专家小组做出。整形手术在NF1相关周围神经鞘瘤所有临床类型的多学科管理中发挥着重要作用,从皮肤和皮下神经纤维瘤到深部结节性和弥漫性丛状神经纤维瘤。每位患者都需要个性化的手术规划,手术的时机和范围由伴随症状、功能和美学限制、疾病进展以及潜在的恶性转化决定。由于身体的任何部位都可能受到影响,所需的美学和重建手术包括广泛的干预措施,如眼睑手术和面部修复、乳房塑形、神经重建或运动替代手术。及时的手术干预可对疾病进程和患者的生活质量产生深远的积极影响,在转化为恶性周围神经鞘瘤(MPNST)的情况下,甚至可挽救生命。

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本文引用的文献

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Target Product Profile for Cutaneous Neurofibromas: Clinical Trials to Prevent, Arrest, or Regress Cutaneous Neurofibromas.皮肤神经纤维瘤的目标产品特性概要:预防、阻止或逆转皮肤神经纤维瘤的临床试验。
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