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Skin Biopsies

Cutaneous Nerve Laboratory

The Cleveland Clinic Cutaneous Nerve Laboratory, one of only a few in the country, has been created to improve diagnosis and research in small fiber sensory neuropathy.

Small fiber sensory neuropathy is a common neuromuscular disorder associated with many medical conditions, including diabetes mellitus, amyloidosis, HIV infection, connective tissue diseases, and pharmacological neurotoxicity. It is also not uncommon to be idiopathic, especially in elderly patients. The clinical presentation usually consists of cutaneous pain, numbness and autonomic dysfunction, which can lead to significant functional impairment. Some patients may predominantly present with pain, which is subjective. A sensitive and specific diagnostic tool is thus essential for making correct diagnosis and rendering appropriate subsequent management.

Small caliber nerve fibers consist of somatic (type C and Ad fibers) and autonomic fibers. They play key roles in cutaneous nociception, thermoreception, and autonomic function. Autonomic function can be assessed by quantifying sweat output and measuring cardiovascular regulation.

Since not all patients with small fiberopathy have both somatic and autonomic involvement, assessing somatic fibers is very much desired. These fibers are small and many are unmyelinated with very slow conduction velocities; therefore, their conduction responses cannot be captured and evaluated by routine nerve conduction studies. This gap has previously been filled by a histological method to evaluate cutaneous nerve fiber density. By immunostaining using the panaxonal marker, protein gene product 9.5 (PGP 9.5), of skin biopsies, intraepidermal small nerve fibers (IENF) become visible and can be assessed both morphometrically and morphologically.

IENF density evaluation is not only a powerful technique for diagnosing small fiber sensory neuropathy, but also a valuable tool for research of this disease. Since 3-mm punch skin biopsy is minimally invasive and well-tolerated, it can be safely repeated to monitor disease progression and treatment response. It has been used in the past to study neuropathies associated with various conditions, including diabetes mellitus, AIDS, leprosy, Fabry disease and postherpetic neuralgia. Trials are planned on small fiber neuropathy by using IENF density evaluation as one of the outcome measurements. This technique will also be useful in basic research to study molecular mechanisms underlying small fiber degeneration and regeneration to develop better clinical intervention.


Frequently Asked Questions:
Skin Biopsy for Diagnosing Small Fiber Sensory Neuropathy

What is small fiber sensory neuropathy?»

Small fiber sensory neuropathy (SFSN) is a type of neuropathy that predominately affects small-caliber sensory nerve fibers, which control perception of pinprick, cold and heat stimuli. Patients with SFSN usually present with numbness, tingling (pins and needles sensation), and pain. Although the symptoms may involve any part of the body, it often affects feet the most. The pain is usually described as burning, stabbing or electric-like.

Why do I need a skin biopsy to diagnose small fiber sensory neuropathy?»

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.

Is skin biopsy a very invasive procedure?»

No. It is minimally invasive. We routinely do skin biopsy on 1 side at 3 sites, above ankle (distal leg), above knee (distal thigh), and below hip (proximal thigh) using a 3 mm (diameter) biopsy punch. Since the biopsy size is so small, no stitches are needed. The biopsy sites will be healed within 1 week, but will leave small scars.

Is skin biopsy very painful?»

No. The whole procedure takes about 10–15 minutes. The only time you will feel pain is when Lidocaine is injected to numb your skin; you may feel a burning sensation for about 5 seconds. The procedure is very well tolerated.

What are the potential complications of skin biopsy?»

The potential complications are bleeding and infection of biopsy sites. The risk of complications is very low if you follow the written aftercare instructions, which will be given and explained to you when you come for the biopsy.

Do I need to discontinue certain medications before the biopsy and should I limit physical activity after the biopsy? »

In general, you do not need to discontinue your medications before the biopsy. If you are on an oral blood thinner such as Coumadin, you may switch it temporarily to subcutaneous injection of Heparin 2 days before the biopsy under the direction of the doctor who put you on Coumadin. You may resume Coumadin after the biopsy. You can continue activity as usual after the biopsy. You can take a shower. However, to prevent infection, you may not go swimming or take a bath in the first week.

How will my skin biopsy specimens be processed? »

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. The sections will then be viewed under a microscope to count the number of small nerve fibers in the epidermis of the skin. The diagnosis of small fiber sensory neuropathy will be made if the small nerve fiber density is reduced as compared to normal persons.

How long does it take to get the biopsy report? »

The biopsy report is usually generated and sent to the referring physician in 1–2 weeks.

Whom should I contact to find out and discuss the biopsy result? »

You should contact your doctor who orders the skin biopsy to find out and discuss the biopsy result.

CCF Cutaneous Nerve Laboratory

9500 Euclid Avenue, TT3-05
Cleveland, OH 44195
Phone: 216.444.4131
Toll-free: 800.223.2273 ext. 44131

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