Intraepidermal morphologic manifestations in lysosomal diseases.
This paper reports the ultrastructural findings for the epidermis of biopsied skin specimens in numerous lysosomal diseases, which can be grouped as follows: a) presence of vacuolar lysosomal residual bodies in mucopolysaccharidoses I, II and III, Salla disease, GM1-gangliosidoses and infantile type II glycogenosis; b) avacuolar lysosomal residual bodies in Niemann-Pick disease type C, mucolipidosis IV, Farber disease, Fabry disease, and late infantile and juvenile neuronal ceroid-lipofuscinoses; c) absence of lysosomal residual bodies in GM2-gangliosidoses, metachromatic leukodystrophy, Gaucher disease and sialidosis type III. Whenever possible, a biopsy of the skin for morphological diagnosis of lysosomal disorders ought not to be confined to the epidermis.
Kaesgen
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U
Division of Neuropathology, University of Mainz, FRG.
Goebel
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HH
D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D008247:Lysosomes / Q000378:metabolism*; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D012867:Skin / Q000378:metabolism / Q000473:pathology*