Abstract
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 leukoencephalopathy (CADASIL), some lysosomal storage diseases, Lafora disease and in peripheral neuropathies.
Highlights
Skin biopsy is a powerful diagnostic tool in Dermatology
En la mayoría de los casos, es posible sospechar el diagnóstico de CADASIL con los antecedentes clínicos y las neuroimágenes, especialmente si son compatibles con eventos isquémicos en pacientes sin factores de riesgo
La enfermedad de Fabry se caracteriza por depósitos de glicoesfingolípidos y se observan estructuras membranosas laminares en múltiples células (Figura 2), siendo distintiva la presencia de múltiples capas de lámina basal alrededor de los vasos sanguíneos[45,46]
Summary
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. 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 Méd Chile 2008; 136: 1047-55). (Key words: CADASIL; Diagnostic techniques, surgical, biopsy; Lafora disease; Lysosomal storage). La biopsia de piel es probablemente la herramienta más importante en Dermatología, no sólo para el diagnóstico, sino para el seguimiento de múltiples dermatosis. La utilidad de la biopsia de piel se ha extendido a otras áreas de la medicina, especialmente en el campo de las enfermedades neurológicas, donde cambios similares a los observados en el sistema nervioso central pueden verse en la vasculatura o en la inervación cutánea.
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