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December 1987

Skin Biopsy for Diagnosis of Hereditary Neurologic Metabolic Disease

Author Affiliations

Montreal Neurological Institute 3801 University St Montreal, Quebec, Canada H3A 2B4

Arch Dermatol. 1987;123(12):1618-1621. doi:10.1001/archderm.1987.01660360046011

This issue of the Archives contains an article on the use of skin biopsy to diagnose Lafora's disease,1 a hereditary neurologic disease in which there is no clinical reason to expect skin involvement.

Characteristic microscopic and/or ultrastructural alterations are present in certain skin structures, not only in Lafora's disease, but in several other metabolic neurologic diseases. Since 1972, when its usefulness was reported in Batten's disease,2 skin biopsy has become a recognized diagnostic procedure for such diseases, as attested by a number of published series.3-7

The application of electron microscopy to the neuronal storage diseases made possible the confident identification of small storage deposits that did not interfere with cell function. It was then recognized that such small deposits could be present in many tissues in addition to those clinically affected. Tissues that might be appropriate for biopsy included skeletal muscle, lymphocytes,, conjunctiva, and skin. It is ironic that the discovery of skin involvement in Lafora's

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