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Review
. 2023 Nov;50(11):1367-1372.
doi: 10.1111/1346-8138.16966. Epub 2023 Sep 18.

Skin biopsy and neuronal intranuclear inclusion disease

Xiao Ren  1   2 , Dandan Tan  1   2 , Jianwen Deng  3 , Zhaoxia Wang  3 , Daojun Hong  1   2
Affiliations
Review

Skin biopsy and neuronal intranuclear inclusion disease

Xiao Ren et al. J Dermatol. 2023 Nov.

Abstract

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.

Keywords: NIID; NOTCH2NLC; diagnosis; skin biopsy.

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