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Skin biopsy for the evaluation of peripheral nerve disease

A Gordon Smith, MD
Summer Gibson, MD
Section Editor
Jeremy M Shefner, MD, PhD
Deputy Editor
John F Dashe, MD, PhD


The study of peripheral nerve disorders has been facilitated by the fact that anatomic structures may be reasonably and safely biopsied without major morbidity.

Muscle biopsy allows for distinction of neurogenic and myopathic conditions, and for detailed characterization of primary muscle disease. However, it is not particularly helpful in distinguishing between different types of peripheral nerve disease.

Historically, biopsy of a sensory nerve with a specific cutaneous field was necessary to establish an anatomic diagnosis of peripheral nerve disease. Cutaneous sensory nerve biopsy remains a standard diagnostic tool in the evaluation of peripheral neuropathies. The most common nerve biopsied is the sural sensory nerve in the calf. While the surgical procedure is generally well tolerated, risks include infection, other surgical morbidity, numbness along the lateral foot, and neuropathic pain [1]. Cutaneous nerve biopsy is potentially useful for a limited number of conditions, including peripheral nerve vasculitis, amyloid neuropathy, atypical forms of chronic inflammatory demyelinating polyradiculoneuropathy, and certain forms of toxic (eg, n-hexane) and hereditary neuropathies [2]. For most other causes of peripheral neuropathy, nerve biopsy reveals evidence of axonal loss but is not particularly helpful for determining etiology. Nerve biopsy as a research tool is limited by the potential risks and by the fact that it can only be performed twice (once on each side).The evaluation of small unmyelinated axons by nerve biopsy is challenging, even with electron microscopy. Other pathologic techniques must be used to evaluate small fiber neuropathies.

Skin biopsy with assessment of dermal and epidermal innervation is a standard diagnostic test at many facilities and a powerful research tool.  

This chapter will review the technique of skin biopsy in the evaluation and study of peripheral nerve disease. Other diagnostic methods for the evaluation of neuropathy and neuromuscular disease are discussed elsewhere. (See "Overview of electromyography" and "Overview of nerve conduction studies".)

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Literature review current through: Nov 2017. | This topic last updated: May 09, 2016.
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