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伴有复发性硬纤维瘤样纤维瘤病和马乔林溃疡的未识别神经肌肉迷离瘤:神经区域内神经肌肉迷离瘤后遗症范围的扩展?病例报告

Unrecognized neuromuscular choristoma with recurrent desmoid-type fibromatosis and Marjolin ulcer: expanding the spectrum of neuromuscular choristoma sequelae within the nerve territory? Illustrative case.

作者信息

Maldonado Andres A, Broski Stephen M, Carter Jodi M, Spinner Robert J

机构信息

Departments of1Neurologic Surgery and.

2Radiology, Mayo Clinic, Rochester, Minnesota; and.

出版信息

J Neurosurg Case Lessons. 2023 Feb 6;5(6). doi: 10.3171/CASE22554.

DOI:10.3171/CASE22554
PMID:36748757
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10550558/
Abstract

BACKGROUND

Neuromuscular choristoma (NMC) is a rare congenital lesion in which muscle tissue is admixed with nerve fascicles within a peripheral nerve. Patients commonly present in early childhood with neuropathy, plexopathy, or chronic undergrowth in the distribution of the affected nerve.

OBSERVATIONS

The authors present the case of a 35-year-old man with unrecognized neuromuscular NMC of the sciatic nerve, which resulted in recurrent, multicentric NMC-associated desmoid-type fibromatosis (NMC-DTF) within the nerve territory in association with a Marjolin ulcer, a cutaneous malignancy.

LESSONS

Based on anatomical and pathophysiological findings described in this case report, the authors support the association between NMC-DTF and Marjolin ulcer.

摘要

背景

神经肌肉错构瘤(NMC)是一种罕见的先天性病变,其中肌肉组织与周围神经内的神经束混合存在。患者通常在儿童早期出现受影响神经分布区域的神经病变、丛病变或慢性发育不良。

观察结果

作者报告了一例35岁男性,患有未被识别的坐骨神经神经肌肉NMC,该病变导致神经区域内反复出现多中心的NMC相关硬纤维瘤病(NMC-DTF),并伴有皮肤恶性肿瘤马乔林溃疡。

经验教训

基于本病例报告中描述的解剖学和病理生理学发现,作者支持NMC-DTF与马乔林溃疡之间的关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c1/10550558/fbc6c9692288/CASE22554f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c1/10550558/b770b13b69f8/CASE22554f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c1/10550558/f250611e5212/CASE22554f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c1/10550558/fbc6c9692288/CASE22554f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c1/10550558/b770b13b69f8/CASE22554f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c1/10550558/f250611e5212/CASE22554f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c1/10550558/fbc6c9692288/CASE22554f3.jpg

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本文引用的文献

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J Neuropathol Exp Neurol. 2022 Mar 29;81(4):308-309. doi: 10.1093/jnen/nlac010.
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A novel mechanism for the formation and propagation of neural tumors and lesions through neural highways.一种通过神经高速公路形成和传播神经肿瘤和病变的新机制。
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Frequent CTNNB1 p.S45 Mutations and Aggressive Clinical Behavior in Neuromuscular Choristoma-Associated Fibromatosis.
神经肌肉性错构瘤相关性纤维瘤病中 CTNNB1 p.S45 突变频繁且临床行为具有侵袭性。
Neurosurgery. 2021 Mar 15;88(4):804-811. doi: 10.1093/neuros/nyaa534.
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Neuromuscular choristoma-associated desmoid-type fibromatosis: Establishing a nerve territory concept.神经肌肉嵴瘤相关的硬纤维瘤病:建立神经区域概念。
Acta Neurochir (Wien). 2020 May;162(5):1137-1146. doi: 10.1007/s00701-019-04178-8. Epub 2020 Jan 2.
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Recurrent desmoid-type fibromatosis associated with underlying neuromuscular choristoma.复发性韧带样型纤维瘤病伴潜在神经肌肉迷离瘤。
J Neurosurg. 2019 Jul 1;131(1):175-183. doi: 10.3171/2018.3.JNS152935. Epub 2018 Aug 31.
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CTNNB1 Mutations and Estrogen Receptor Expression in Neuromuscular Choristoma and Its Associated Fibromatosis.CTNNB1 突变与雌激素受体在神经肌肉性错构瘤及其相关纤维瘤病中的表达。
Am J Surg Pathol. 2016 Oct;40(10):1368-74. doi: 10.1097/PAS.0000000000000673.
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Benign triton tumor: multidisciplinary approach to diagnosis and treatment.
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Addendum: Evidence supports a "no-touch" approach to neuromuscular choristoma.附录:有证据支持对神经肌肉迷离瘤采取“非接触”治疗方法。
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