Skin biopsy for the diagnosis of nervous system diseases

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Rev Med Chil. 2008 Aug;136(8):1047-55.

Skin biopsy for the diagnosis of nervous system diseases

de la Sotta F P, Romero G W, González B S.

Dermatología, Escuela de Medicina, Pontificia Universidad Católica de

Chile, Santiago, Chile.

Skin biopsy is a powerful diagnostic tool in Dermatology. Its use has

been extended to other medical specialties, aüowing 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.