Skin biopsy is proving to be a reliable diagnostic tool in patients complaining of symptoms consistent with small-fiber neuropathy, a condition that has been underdiagnosed in the past. Skin biopsy samples can demonstrate the selective degeneration of somatic unmyelinated fibers that convey pain and thermal sensations.

Small fibers travel too slow and their conduction responses cannot be captured by nerve conduction study/EMG which is a routine test performed to evaluate for large sensory and motor nerve fibers. Therefore, skin biopsy is used to evaluate small sensory nerve fibers in the skin.

Nerve biopsy is the removal of a small piece of nerve for examination. Through a small incision, a sample of nerve is removed and examined under a microscope. Nerve biopsy may be performed to identify nerve degeneration, identify inflammatory nerve conditions (neuropathies), or to confirm specific diagnoses.

Because a local anesthetic is used, discomfort during the procedure is usually minimal. The anesthetic may burn or sting when first injected. After the procedure, the area may feel tender or sore for a few days. An area of the skin may remain permanently numb after the biopsy.

A cutaneous nerve biopsy is a simple test that helps your doctor examine the nerves in your skin. A medical professional can perform the test right in the doctor’s office or in a clinic.

“Most small fiber neuropathies are what we call length-dependent, meaning the longest nerves in the body are affected first or most severely,” Dr. Traub says. For example, those affected will often feel symptoms in the feet and toes.

Surgeons at any hospital or surgical facility who are familiar with diagnostic nerve biopsy procedures can obtain a specimen, which should then be sent directly to the Neuromuscular Pathology Laboratory for staining and interpretation.

The nerve biopsy is processed and examined under a microscope. Different tests are performed depending on the suspected diagnosis. The processing may take at least one week or more. This is followed by detailed analysis leading to a full report, which may take up to three to four weeks.

Skin biopsies can help diagnose: The presence and severity of sensory neuropathy when nerve conduction studies and EMG are not diagnostic.

Bowel symptoms, as a sign of peripheral nerve damage are seen in generalised as well as pure autonomic neuropathies. The most frequent observed condition is diabetic neuropathy, in which constipation will not be the only symptom, as other peripheral signs will be present.

Skin biopsy specimens will be processed in our skin lab (CCF Cutaneous Nerve Laboratory). Each skin biopsy specimen will be cut into 50–60 sections. Some of the sections will be immunostained using an antibody against a nerve marker (PGP9.5) to highlight small sensory nerve fibers in the skin.

However, there remains the possibility of hereditary and autoimmune components.JLIS, also known as benign lymphocytic infiltration of the skin, Jessner-Kanof syndrome, and benign chronic T-cell infiltrative disease, was first described in 1953 by Max Jessner and Norman Kanof.

Symptoms of Jessner lymphocytic infiltrate of the skin include rosy-red, pimple-like eruptions, most commonly on the upper face, cheeks and neck.

The treatment of granulomatous disease and lymphocytic infiltration remains uncertain without any controlled studies. One suggested scheme involves the long-term use of hydroxycholoroquine on the basis of its effect on TLR responses and antigen presentation and for its use in sarcoidosis and autoimmunity ( Cunningham-Rundles, 2010 ).