title: Cutaneous ultrastructural diagnosis of ceroid-lipofuscinosis.
abstract: A skin biopsy from a 6-year-old girl was examined by electron microscopy and the diagnosis of ceroid-lipofuscinosis (CL) was confirmed. This has not been reported in the dermatology literature, because of the absence of specific skin manifestations. However, as we have shown, various cells of skin, including fibroblasts, Schwann cells, eccrine serous cells, endothelial cells and smooth muscle cells, accumulated characteristic substances to produce the finger print pattern (FPP) or the curvilinear profile (CLP) which are thought to be diagnostic for CL. Cutaneous ultrastructural research in such cases is important as asymptomatic skin disorders may exist in other congenital storage diseases.
mesh_terms: D002566:Ceroid / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000473:pathology; D008062:Lipofuscin / Q000378:metabolism; D008854:Microscopy, Electron; D010860:Pigments, Biological / Q000378:metabolism*; D012867:Skin / Q000648:ultrastructure*
chemical_list: D002566:Ceroid; D008062:Lipofuscin; D010860:Pigments, Biological