Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Multidisciplinary collaborative group for cutaneous neuropathology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
J Dermatol. 2023 Nov;50(11):1367-1372. doi: 10.1111/1346-8138.16966. Epub 2023 Sep 18.
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with variable clinical phenotypes. There is a considerable delay in the definite diagnosis, which primarily depends on postmortem brain pathological examination. Although CGG repeat expansion in the 5'-untranslated region of NOTCH2NLC has been identified as a disease-associated variant, the pathological diagnosis is still required in certain NIID cases. Intranuclear inclusions found in the skin tissue of patients with NIID dramatically increased its early detection rate. Skin biopsy, as a minimally invasive method, has become widely accepted as a routine examination to confirm the pathogenicity of the repeat expansion in patients with suspected NIID. In addition, the shared developmental origin of the skin and nerve system provided a new insight into the pathological changes observed in patients with NIID. In this review, we systematically discuss the role of skin biopsy for NIID diagnosis, the procedure of skin biopsy, and the pathophysiological mechanism of intranuclear inclusion in the skin.
神经元核内包涵体病（NIID）是一种罕见的神经退行性疾病，具有多种临床表型。由于该病的明确诊断存在较大延迟，主要依赖于死后的脑部病理检查。尽管 NOTCH2NLC 5'-非翻译区的 CGG 重复扩增已被确定为与疾病相关的变异，但在某些 NIID 病例中仍需要进行病理诊断。在 NIID 患者的皮肤组织中发现的核内包涵体极大地提高了其早期检测率。皮肤活检作为一种微创方法，已被广泛接受为疑似 NIID 患者的常规检查，以确认重复扩增的致病性。此外，皮肤和神经系统的共同发育起源为观察到的 NIID 患者的病理变化提供了新的见解。在这篇综述中，我们系统地讨论了皮肤活检在 NIID 诊断中的作用、皮肤活检的程序以及皮肤核内包涵体的病理生理学机制。
