title: Skin biopsy: a useful tool in the diagnosis of lysosomal storage diseases.
abstract: In this report, the authors summarize their 19-year experience with over 200 biochemically proven cases of lysosomal storage diseases using electron microscopic screening of more than 950 skin biopsies. They found that electron microscopy (EM) is a highly sensitive, efficient, cost-effective, and rapid diagnostic screening tool for evaluation of lysosomal storage diseases in skin biopsies. Although EM is more expensive than a single enzyme assay, it can exclude more than 90% of cases in which lysosomal storage disease is being considered. EM is critical for diagnosis of neuronal ceroid lipofuscinosis and mucolipidosis IV and is the most cost-effective screening tool in patients with previously unrecognized storage diseases.
authors.affiliation: Department of Pathology, Tufts University School of Medicine and Tufts-New England Medical Center, Boston, Massachusetts 02111, USA. joseph.alroy@tufts.edu
authors.forename: Joseph
authors.initials: J
authors.lastname: Alroy
authors.forename: Angelo A
authors.initials: AA
authors.lastname: Ucci
mesh_terms: D001706:Biopsy / Q000191:economics; D002648:Child; D003362:Cost-Benefit Analysis; D005260:Female; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis*; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D012867:Skin / Q000648:ultrastructure*