Skin biopsy for the diagnosis of nervous system diseases

Skin biopsy is a powerful diagnostic tool in Dermatology. Its use has been extended to other medical specialties, allowing the diagnosis of several diseases that previously required complex and high risk diagnostic procedures. Skin contains numerous cell types, including blood vessels and peripheral nerves and represents a window to the systemic circulation and nervous system. In this review we discuss the use of skin biopsy to diagnose nervous system diseases in which patients do not exhibit any clinical cutaneous manifestations. We review the usefulness of skin biopsy in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopaty (CADASIL), some lysosomal storage diseases, Lafora disease and in peripheral neuropathies (Rev Med Chile 2008; 136: 1047-55).