Nolano Maria, Tozza Stefano, Caporaso Giuseppe, Provitera Vincenzo
Department of Neurology, Istituti Clinici Scientifici Maugeri IRCCS, 27100 Pavia, Italy.
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University "Federico II" of Naples, 80131 Naples, Italy.
Brain Sci. 2020 Dec 15;10(12):989. doi: 10.3390/brainsci10120989.
In the last three decades the study of cutaneous innervation through 3 mm-punch-biopsy has provided an important contribution to the knowledge of small fiber somatic and autonomic neuropathies but also of large fiber neuropathies. Skin biopsy is a minimally invasive technique with the advantage, compared to sural nerve biopsy, of being suitable to be applied to any site in our body, of being repeatable over time, of allowing the identification of each population of nerve fiber through its target. In patients with symptoms and signs of small fiber neuropathy the assessment of IntraEpidermal Nerve Fiber density is the gold standard to confirm the diagnosis while the quantification of sudomotor, pilomotor, and vasomotor nerve fibers allows to evaluate and characterize the autonomic involvement. All these parameters can be re-evaluated over time to monitor the disease process and to evaluate the effectiveness of the treatments. Myelinated fibers and their receptors can also be evaluated to detect a "dying back" neuropathy early when nerve conduction study is still normal. Furthermore, the morphometry of dermal myelinated fibers has provided new insight into pathophysiological mechanisms of different types of inherited and acquired large fibers neuropathies. In genetic neuropathies skin biopsy has become a surrogate for sural nerve biopsy, no longer necessary in the diagnostic process, to study genotype-phenotype correlations.
在过去三十年中，通过3毫米打孔活检对皮肤神经支配的研究，为了解小纤维躯体和自主神经病变以及大纤维神经病变做出了重要贡献。与腓肠神经活检相比，皮肤活检是一种微创技术，其优点在于适用于身体的任何部位、可随时间重复进行、能够通过其靶点识别每类神经纤维。对于有小纤维神经病变症状和体征的患者，评估表皮内神经纤维密度是确诊的金标准，而对汗腺运动、立毛肌运动和血管运动神经纤维的定量分析则有助于评估和描述自主神经受累情况。所有这些参数都可以随时间重新评估，以监测疾病进程并评估治疗效果。当神经传导研究仍正常时，也可以评估有髓纤维及其感受器，以早期检测“逆行性”神经病变。此外，真皮有髓纤维的形态学研究为不同类型遗传性和获得性大纤维神经病变的病理生理机制提供了新的见解。在遗传性神经病变中，皮肤活检已成为腓肠神经活检的替代方法，在诊断过程中不再需要进行腓肠神经活检来研究基因型与表型的相关性。
