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Case Reports
. 1981 Jan;57(1-2):78-82.

[Fabry's disease without cutaneous angiokeratoma : diagnosis by electron microscope study of skin biopsy (author's transl)]

[Article in French]
Y Le Charpentier, J Crouzet, M Le Charpentier, M Lessana-Leibowitch, M C Di Crescenzo, B Bennett, R Abelanet
  • PMID: 6258246
Case Reports

[Fabry's disease without cutaneous angiokeratoma : diagnosis by electron microscope study of skin biopsy (author's transl)]

[Article in French]
Y Le Charpentier et al. Sem Hop. 1981 Jan.

Abstract

A case of Fabry's disease without typical skin lesion is reported. Electron microscope study of normally appearing skin (at clinical and even histological levels) has shown typical inclusions within cytoplasm of various dermic cells (endothelial cells and pericytes, myocytes, fibroblasts) and adipocytes. These inclusions are made up of stacks of membranes with parallel array and periodicity about 5 nanometers. Such a case emphasizes usefulness of electron microscopy of skin, even normally appearing, for the diagnosis of Fabry disease, as it has been previously shown for other dyslipidoses.

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