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Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease
Author(s) -
Busard H. L. S. M.,
GabreëLsFesten A. A. W. M.,
Renier W. O.,
Gabreës F. J. M.,
Stadhouders A. M.
Publication year - 1987
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410210613
Subject(s) - axilla , biopsy , medicine , skin biopsy , lafora disease , pathology , eccrine sweat gland , myoepithelial cell , disease , apocrine , dermatology , sweat gland , sweat , biology , biochemistry , phosphorylation , immunohistochemistry , cancer , breast cancer , phosphatase
Skin biopsies from the axilla were examined in 7 patients with clinical signs and symptoms of lafora's disease, in 9 relatives (7 parents and 2 siblings), and in 17 patients with chronic or progressive degenerative neurological disorders and chronic epilepsy, who served as controls. In the biopsies of all patients with Lafora's disease, typical periodic acid‐Schiff (PAS)‐positive inclusions were present in the myoepithelial cells of the secretory acini of the apocrine glands and/or in the cells of the eccrine duct. No abnormalities were found in the biopsies from relatives and controls. We conclude that axilla skin biopsy is an easy and reliable test for diagnosing Lafora's disease, and is preferable to liver biopsy, but has no value for carrier detection.