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Evaluation of intra-epidermal nerve fibre density in skin biopsy Background: Small fibre neuropathy is a sensory neuropathy affecting small, thinly myelinated Ad-fibres and unmyelinated C-fibres. It clinically presents with burning pain and sensory symptoms. As nerve conduction studies mainly detect large fibre function, they often show normal values. Skin biopsy is a new, minimally invasive and painless tool for the diagnosis of small fibre neuropathy. Objective: Evaluation of the newly established method of skin biopsies for the diagnosis of small fibre neuropathy at the University Hospital Basel. Material/Methods: Between 2007 and 2009, a total of 50 patients presenting with neuropathic symptoms were examined clinically, electrophysiologically and by skin biopsies at the University Hospital Basel. Biopsies were taken under local anaesthesia, using a 3-mm punch. Three sections of each specimen were stained immunohistochemically with anti-protein-geneproduct 9.5 antibody. The intra-epidermal nerve fibres were counted and assessed according to published normative values. Results: Out of the 50 patients presenting with neuropathic symptoms, 35 had normal nerve conduction studies. In 28 of these patients, a reduced intra-epidermal nerve fibre density was found, suggesting a pure small fibre neuropathy.A totalof7patientshadneuropathic symptomswithout reduction of intra-epidermal nerve fibres. In addition, skin biopsies of 15 patients with clinically and electrophysiologically diagnosed polyneuropathy were analysed. In all of these patients an involvement of small fibres was detected. Aetiological work-up for each patient resulted in findings consistent with previously published data: pure small fibre neuropathy was associated with impaired glucose tolerance in 7.1% (2 patients), diabetes in 7.1% (2 patients), MGUS in 7.1% (2 patients) and with polyarthritis, alcoholtoxicity, hepatitis B, hepatitis C, Sjögren’s syndrome and sarcoidosis in 3.5% (1 patient). In 57.1% (16 patients), the neuropathy was classified as idiopathic small fibre neuropathy. Conclusions: Skin biopsy proves to be an effective and sensitive method for the diagnosis of small fibre neuropathy. It is especially helpful in patients with an isolated lesion of small fibres where nerve conduction studies show normal values. Our results are consistent with the published data and applicable in a tertiary referral centre.

schweizer archiv für neurologie und psychiatrie

Die Bestimmung der intraepidermalen Nervenfaserdichte in der Hautbiopsie - eine valide Methode zur Diagnostik von isolierten Small Fiber Neuropathien Erste Erfahrungen an der neurologischen Universitätsklinik Basel