A Case of Fabry ` s Disease with Generalized Anhidrosis.
- Author:
Hyun Chul PARK
;
Kee Chan MOON
;
Soo Nam KIM
- Publication Type:Case Report
- Keywords:
Anhidrosis Fabrys disease
- MeSH:
Angiokeratoma;
Endothelial Cells;
Extremities;
Fibroblasts;
Galactosidases;
Hot Temperature;
Humans;
Hypohidrosis*;
Leukocytes;
Male;
Pericytes;
Scrotum;
Skin;
Young Adult
- From:Korean Journal of Dermatology
1988;26(5):734-738
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A 21-year-old male suffered from generalized anhidrosis and heat intolerance for about 15 years. Other clinical features included multiple angiokeratoma on the back, scrotum and extremities, together with ocular involvement. The electronmicroscopic studies of the skin demonstrated laminated intracytoplamic inclusions in the endothelial cells, pericytes of dermal vessels, fibroblasts and eccrine glandular cells. a Galactosidase assay of leukocytes from the patient and his uncle showed nearly absence of the activity,
