The human skin is richly innervated by nerve fibers of different calibers and functions, including thickly myelinated large fibers that act as afferents for mechanoreceptors in the dermal papillae. Skin biopsies offer minimally invasive access to these myelinated fibers, in which each internode represents an individual myelinating Schwann cell. Using this approach, human myelinated nerve fibers can be analyzed by several methods, including immunostaining, morphometric and ultrastructural analysis, and molecular biology techniques. This analysis can reveal important aspects of human Schwann cell biology in health and disease, such as in the case of demyelinating neuropathies. This technique has revealed Schwann cell phenotypes in Charcot-Marie-Tooth disease type 1 and acquired inflammatory neuropathies.
Keywords: Charcot-Marie-Tooth disease; Immunohistochemistry; Myelinated nerve fibers; Neuropathy; Schwann cells; Skin biopsy.