Lafora's Disease: The Role of Skin Biopsy

Grace A. Newton; Ramon L. Sanchez; John Swedo; Edgar B. Smith

doi:10.1001/archderm.1987.01660360095019

Lafora's Disease: The Role of Skin Biopsy

Grace A. Newton, Ramon L. Sanchez, John Swedo, Edgar B. Smith

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Abstract

Lafora's disease is a neurometabolic disease characterized by progressive myoclonus epilepsy. It is thought to be transmitted by autosomal recessive inheritance. The diagnosis of Lafora's disease is based on both clinical symptomatology and histologic detection of intracytoplasmic periodic acid-Schiff-positive inclusions, termed Lafora bodies. Despite the absence of cutaneous clinical findings, typical inclusions are present in eccrine duct cells and peripheral nerve of skin biopsies. By electron microscopy, the inclusions are electron-lucent and contain glycogenlike granules and filamentous material. Skin biopsy is a convenient and the least invasive method of establishing the diagnosis of Lafora's disease.

Original language	English (US)
Pages (from-to)	1667-1669
Number of pages	3
Journal	Archives of Dermatology
Volume	123
Issue number	12
DOIs	https://doi.org/10.1001/archderm.1987.01660360095019
State	Published - Dec 1987

ASJC Scopus subject areas

Dermatology

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10.1001/archderm.1987.01660360095019

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abstract = "Lafora's disease is a neurometabolic disease characterized by progressive myoclonus epilepsy. It is thought to be transmitted by autosomal recessive inheritance. The diagnosis of Lafora's disease is based on both clinical symptomatology and histologic detection of intracytoplasmic periodic acid-Schiff-positive inclusions, termed Lafora bodies. Despite the absence of cutaneous clinical findings, typical inclusions are present in eccrine duct cells and peripheral nerve of skin biopsies. By electron microscopy, the inclusions are electron-lucent and contain glycogenlike granules and filamentous material. Skin biopsy is a convenient and the least invasive method of establishing the diagnosis of Lafora's disease.",

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year = "1987",

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AU - Swedo, John

AU - Smith, Edgar B.

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AB - Lafora's disease is a neurometabolic disease characterized by progressive myoclonus epilepsy. It is thought to be transmitted by autosomal recessive inheritance. The diagnosis of Lafora's disease is based on both clinical symptomatology and histologic detection of intracytoplasmic periodic acid-Schiff-positive inclusions, termed Lafora bodies. Despite the absence of cutaneous clinical findings, typical inclusions are present in eccrine duct cells and peripheral nerve of skin biopsies. By electron microscopy, the inclusions are electron-lucent and contain glycogenlike granules and filamentous material. Skin biopsy is a convenient and the least invasive method of establishing the diagnosis of Lafora's disease.

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Lafora's Disease: The Role of Skin Biopsy

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