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

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Abstract
Laboratory investigation of a patient diagnosed as ichthyosiform erythroderma bullosa revealed the following abnormalities: .alpha.- and .beta.-Galactosidases were elevated in the lesion. .alpha.-Mannosidase activity was extremely low both in the lesion and in relatively normal epidermis. The mannose:glucose ratio of water-soluble hexose-containing material in the scales was very high. Membrane-limited vacuoles, apparently enlarged secondary lysosomes, were observed. This patient is the first documented example of a lysosomal storage disease in which overt clinical lesions are confined to the epidermis.

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