A lysosomal storage disorder of the epidermis characterized by a deficiency of alpha-mannosidase and an accumulation of mannose-rich materials
| Autor: | P.D. Mier, A.M.G. Bergers, José J.M.A. Hurk, J. W. H. Mali, W.J.B.M. Staak |
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| Rok vydání: | 1976 |
| Předmět: |
Mannosidase
Adult Male Pathology medicine.medical_specialty Mannose Dermatology Vacuole Biology Disaccharidases Lesion Diagnosis Differential Ichthyosiform erythroderma chemistry.chemical_compound Metabolic Diseases Mannosidases Lysosomal storage disease medicine Humans Skin Epidermis (botany) Skin Diseases Vesiculobullous Ichthyosis medicine.disease Water soluble chemistry medicine.symptom Lysosomes |
| Zdroj: | The British journal of dermatology. 95(6) |
| ISSN: | 0007-0963 |
| Popis: | SUMMARY Laboratory investigation of a patient diagnosed as ichthyosiform erythroderma bullosa revealed the following abnormalities: (1) α- and β-galactosidases were elevated in the lesion. (2) α-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 patient is the first documented example of a lysosomal storage disease in which overt clinical lesions are confined to the epidermis. |
| Databáze: | OpenAIRE |
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