A lysosomal storage disorder of the epidermis characterized by a deficiency of alpha-mannosidase and an accumulation of mannose-rich materials.
Laboratory investigation of a patient diagnosed as ichthyosiform erythroderma bullosa revealed the following abnormalities: (1) alpha- and beta-galactosidases were elevated in the lesion. (2) alpha-mannosidase activity was extremely low both in the lesion and in relatively normal epidermis. (3) The mannose:glucose ratio of water-soluble hexose-containing material in the scales was very high. (4) Membrane-limited vacuoles, apparently enlarged secondary lysosomes, were observed. We conclude that this patients is the first documented example of a lysosomal storage disease in which overt clinical lesions are confined to the epidermis.
D000328:Adult; D003937:Diagnosis, Differential; D004186:Disaccharidases / Q000172:deficiency*; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis*; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D008361:Mannosidases / Q000172:deficiency*; D008659:Metabolic Diseases / Q000150:complications / Q000175:diagnosis*; D012867:Skin / Q000648:ultrastructure; D012872:Skin Diseases, Vesiculobullous / Q000150:complications / Q000175:diagnosis*
D004186:Disaccharidases; D008361:Mannosidases