Abstract：
Over the last three decades, skin punch biopsy has become the gold standard for diagnosis of small fiber neuropathies, including autonomic neuropathies commonly seen in diabetics, patients with HIV, and children with hereditary sensory autonomic neuropathies and toxin-induced neuropathy. Clinical, biochemical, electrophysiological tests are inconclusive, making it difficult to diagnose and initiate treatment. A skin punch biopsy is easy to perform in the outpatient clinic, is highly sensitive, and provides an objective diagnosis. Importantly, it helps avoid performing invasive nerve biopsy in patients with small fiber neuropathy, thereby preventing complications such as non-healing of the biopsy site, which is common in these patients. Secondly, the greatest advantage of skin punch biopsies is that they can be repeated any number of times, unlike a nerve biopsy, and are useful to evaluate disease progression and therapeutic response. More recently, its use has been expanded to the diagnosis of large fiber neuropathies, inherited demyelinating neuropathies, etc., obviating the need for a nerve biopsy. The European Federation of Neurological Societies has published guidelines for evaluation to ensure uniformity with regard to the site of biopsy, processing, and quantification. The evaluation of the skin biopsy involves morphometric assessment of the intraepidermal nerve fiber density using PGP 9.5 immunostained sections by bright-field microscopy. This review focuses on the practical aspects of skin punch biopsy and its utility for the practicing pathologist.
摘要：
在过去的三十年里，皮肤穿刺活检已成为诊断小纤维神经病的金标准，包括糖尿病患者常见的自主神经病变，HIV患者,和遗传性感觉自主神经神经病和毒素诱发的神经病的儿童。临床,生物化学，电生理测试尚无定论，很难诊断和开始治疗。在门诊很容易进行皮肤穿刺活检，高度敏感，并提供客观诊断。重要的是,它有助于避免对小纤维神经病变患者进行侵入性神经活检，从而防止并发症，如活检部位不愈合，这在这些患者中很常见。其次,皮肤穿刺活检的最大优点是它们可以重复任何次数，不像神经活检,并可用于评估疾病进展和治疗反应。最近,它的用途已经扩展到大纤维神经病的诊断，遗传性脱髓鞘神经病,等。,避免了神经活检的需要.欧洲神经学会联合会已经公布了评估指南，以确保活检部位的一致性。processing,和量化。皮肤活检的评估包括通过亮场显微镜使用PGP9.5免疫染色切片对表皮内神经纤维密度进行形态测量评估。这篇综述着重于皮肤穿刺活检的实践方面及其对执业病理学家的实用性。
