title: Electron microscopy in the early diagnosis of genetic disorders of the skin.
abstract: Electron microscopy is shown to represent an effective tool in the early diagnosis of genetic disorders. On the basis of ultrastructural findings in various dominant and recessive types of ichthyoses and epidermolyses, defects of structural proteins of the skin proved to form the main intrinsic pathogenetic feature of some dominantly inherited types whereas quantitative impairments characterize their closely resembling recessive counterparts. Most of the diseases concerned severely disable the involved patients. Early diagnosis is therefore of high importance. In those cases where an exact diagnosis in newborn children is difficult or impossible with respect to their clinical features, electron microscopy provides the clinician with reliable and significant criteria to differentiate between closely resembling entities.
mesh_terms: D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D007633:Keratins / Q000378:metabolism; D008854:Microscopy, Electron; D012867:Skin / Q000648:ultrastructure*
chemical_list: D007633:Keratins