Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
Sem Hop
PMID:[Fabry's disease without cutaneous angiokeratoma : diagnosis by electron microscope study of skin biopsy (author's transl)]. 625 46