Generalized anhidrosis associated with Fabry's disease.
A 28-year-old Korean man suffered from generalized acquired anhidrosis and heat intolerance that were confirmed by a sweat test. Other clinical features consistent with Fabry's disease were fever and severe pain of the lower extremities and leg edema. Although the patients lacked cutaneous angiokeratomas, ultrastructural studies of the normal skin demonstrated diagnostic intracytoplasmic inclusions in the endothelial cells and pericytes of dermal vessels, fibroblasts, perineural cells, and secretory cells of eccrine glands. alpha-Galactosidase assay of the patient's leukocytes showed markedly decreased activity, which confirms the diagnosis.
D000328:Adult; D004439:Eccrine Glands / Q000473:pathology / Q000648:ultrastructure; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D005696:Galactosidases / Q000032:analysis; D006801:Humans; D007007:Hypohidrosis / Q000209:etiology*; D007962:Leukocytes / Q000201:enzymology; D008297:Male
D005696:Galactosidases