Skin Biopsy as a Novel Diagnostic Aid in Immune-Mediated Neuropathies

• Published in: Journal of neuropathology and experimental neurology Vol. 81; no. 12; pp. 1018 - 1025
• Main Authors: Min, Young Gi, Ju, Woohee, Ha, Ye-Eun, Ban, Jae-Jun, Shin, Je-Young, Kim, Sung-Min, Hong, Yoon-Ho, Park, Sung-Hye, Sung, Jung-Joon
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.12.2022
• Subjects: Antibodies; Autoimmune diseases; Axons - pathology; Biopsy; Cohort Studies; Diagnosis; Humans; Original; Peripheral nerve diseases; Peripheral Nervous System Diseases - diagnosis; Peripheral Nervous System Diseases - pathology; Ranvier's Nodes - pathology; Skin; Skin - pathology; South Korea; Immunohistochemistry; Skin biopsy; Myelinated nerve fiber; Diagnostics; Neuropathology; Immune-mediated neuropathies
• ISSN: 0022-3069; 1554-6578
• DOI: 10.1093/jnen/nlac085

Abstract Immune-mediated neuropathies are a heterogenous group of inflammatory peripheral nerve disorders. They can be classified according to the domain where the autoimmune process begins: the internode, paranode, or node. However, conventional diagnostic tools, electrodiagnosis (EDX), and autoantibody testing do not fully address this issue. In this institutional cohort study, we investigated the value of dermal myelinated fiber analysis for target domain-based classification. Twenty-seven consecutive patients with immune-mediated neuropathies underwent skin biopsies. The sections were stained with antibodies representative of myelinated fiber domains and were scanned using a confocal microscope. Clinical and pathological features of each patient were reviewed comprehensively. Quantitative morphometric parameters were subjected to clustering analysis, which stratified patients into 3 groups. Cluster 1 (“internodopathy”) was characterized by prominent internodal disruption, intact nodes and paranodes, demyelinating EDX pattern, and absence of nodal-paranodal antibodies. Cluster 2 (“paranodopathy”) was characterized by paranodal disruption and corresponding antibodies. Morphological changes were restricted to the nodes in cluster 3; we designated this cluster as “nodopathy.” This report highlights the utility of skin biopsy as a diagnostic aid to gain pathogenic insight and classify patients with immune-mediated neuropathies.