Related Experiment Videos
[Fabry's disease without cutaneous angiokeratoma : diagnosis by electron microscope study of skin biopsy (author's
La Semaine Des Hopitaux : Organe Fonde Par L'Association D'Enseignement Medical Des Hopitaux De Paris
|January 8, 1981
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.