Lafora disease: Diagnosis by skin biopsy - 07/09/11
Doi : 10.1016/S0190-9622(99)70026-5
Darius Karimipour, MDa, Lori Lowe, MDa,d, Mila Blaivas, MDd, Dana Sachs, MDa, Timothy M. Johnson, MDa,b,c
Ann Arbor Michigan
From the Departments of Dermatology,a Otorhinolaryngology,b Surgery (Division of Plastic Surgery),c and Pathology,d University of Michigan Medical Center and University of Michigan Comprehensive Cancer Center
Abstract |
Lafora disease is a fatal neurometabolic disorder characterized by progressive myoclonic epilepsy. Diagnosis relies upon the discovery of specific inclusion bodies in any of several organs. Dermatologists and dermatopathologists should be familiar with this condition because axillary skin biopsy is useful to diagnose this disorder. We present a case of Lafora disease diagnosed by axillary skin biopsy and review the condition’s clinical, histologic, and ultrastructural features. (J Am Acad Dermatol 1999;41:790-2.)
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 | Reprint requests: Timothy M. Johnson, MD, University of Michigan/Dermatology, 1910 Taubman Center, Box 0314, Ann Arbor, MI 48109-0314. |
| 0190-9622/99/$8.00 + 0 16/54/100899 |
© 1999
American Academy of Dermatology, Inc. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 41 - N° 5
P. 790-792 - novembre 1999 Retour au numéro
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