ABSTRACT
We report a case of angiokeratoma circumscriptum which we have followed for one year. The skin lesion initially showed erythema and then changed to a dark reddish, raised, keratotic nodule. The lesion histologically showed dilated capillaries and hyperkeratosis. Using immunohistochemistry, matrix metalloproteinase (MMP)-9 was localized in the epidermis just under the horny layer, particularly in the hyperkeratotic lesion. The expression of MMP-9 might be related to the hyperkeratotic changes in this lesion.
Subject(s)
Angiokeratoma/pathology , Collagenases/analysis , Skin Neoplasms/pathology , Angiokeratoma/blood supply , Angiokeratoma/enzymology , Capillaries/pathology , Child, Preschool , Collagenases/genetics , Dilatation, Pathologic/pathology , Epidermis/enzymology , Epidermis/pathology , Erythema/pathology , Follow-Up Studies , Gene Expression Regulation, Enzymologic , Gene Expression Regulation, Neoplastic , Humans , Immunohistochemistry , Keratinocytes/enzymology , Keratinocytes/pathology , Keratosis/pathology , Male , Matrix Metalloproteinase 9 , Skin Neoplasms/blood supply , Skin Neoplasms/enzymologyABSTRACT
Two patients with Fabry's disease were infused with normal plasma to provide active enzyme (ceramide trihexosidase) for hydrolysis of the plasma substrate, galactosylgalactosylglucosylceramide. Maximum ceramide trihexosidase activity occurred 6 hours after infusion of the plasma, attaining a level approximately 150 percent of that in normal plasma; enzymatic activity was detectable for 7 days. The amount of accumulated substrate in the plasma of these recipients decreased about 50 percent on day 10 after infusion. Thus, periodic replacement of ceramide trihexosidase activity in the plasma of patients with Fabry's disease might lead to consistently lower amounts of substrate in the plasma and a decrease in its rate of accumulation in tissues.
Subject(s)
Angiokeratoma/enzymology , Arthritis/enzymology , Glycolipids/metabolism , Glycoside Hydrolases/blood , Lipid Metabolism, Inborn Errors/enzymology , Plasma/enzymology , Adolescent , Adult , Cerebrosides/blood , Cerebrosides/therapeutic use , Child , Child, Preschool , Clinical Trials as Topic , Diffuse Cerebral Sclerosis of Schilder/enzymology , Factor VIII/metabolism , Female , Gaucher Disease/enzymology , Glycolipids/blood , Glycoside Hydrolases/therapeutic use , Humans , Lipid Metabolism, Inborn Errors/drug therapy , Lipidoses/enzymology , Liver/enzymology , Male , Middle Aged , Sulfatases/therapeutic use , von Willebrand Diseases/drug therapySubject(s)
Angiokeratoma/enzymology , Arthritis/enzymology , Galactosidases/blood , Glycoside Hydrolases/blood , Lipid Metabolism, Inborn Errors , Angiokeratoma/diagnosis , Arthritis/diagnosis , Cerebrosides/blood , Cerebrosides/metabolism , Clinical Enzyme Tests , Gangliosides/metabolism , Humans , Leukocytes/enzymology , Lipidoses/enzymologySubject(s)
Angiokeratoma/enzymology , Arthritis/enzymology , Glycolipids/metabolism , Glycoside Hydrolases/metabolism , Lipid Metabolism, Inborn Errors/enzymology , Lipidoses/enzymology , Amniotic Fluid/enzymology , Brain/enzymology , Culture Techniques , Female , Fetus/cytology , Glycolipids/blood , Glycolipids/urine , Humans , Intestine, Small/enzymology , Kidney/enzymology , Liver/enzymology , Pregnancy , Spleen/enzymologyABSTRACT
The leukocytes of male patients with Fabry's disease are deficient in alpha-galactosidase. The alpha-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of beta-galactosidase, beta-acetylgalactosaminidase, and beta-acetylglucosaminidase in the leukocytes of affected individuals are normal.
