A lysosomal storage disorder of the epidermis characterized by a deficiency of alpha-mannosidase and an accumulation of mannose-rich materials.

doi:10.1111/j.1365-2133.1976.tb07035.x

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A lysosomal storage disorder of the epidermis characterized by a deficiency of alpha-mannosidase and an accumulation of mannose-rich materials.

J W JW Mali, A M AM Bergers, J J JJ Van Den Hurk, P D PD Mier and W J WJ Van De Staak Br J Dermatol 95(6):627-30 (1976) PMID 795449

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.

DOI: 10.1111/j.1365-2133.1976.tb07035.x
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A lysosomal storage disorder of the epidermis characterized by a deficiency of alpha-mannosidase and an accumulation of mannose-rich materials.

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