Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response

Clin Auton Res. 1996 Apr;6(2):107-10. doi: 10.1007/BF02291231.

Abstract

Fabry's disease, X-linked alpha-galactosidase deficiency, features a variety of autonomic abnormalities including anhidrosis. In this study, we measured the skin sympathetic nerve activity (SSNA), skin potential and sweat rate in a symptomatic female carrier to investigate the underlying pathophysiology of anhidrosis. The basal activity and responsiveness of SSNA were both fairly well preserved, although slightly reduced compared with the control levels. However, sweating was completely absent, despite the normal skin potential change in response to SSNA bursts. These results suggest that anhidrosis in Fabry's disease is a result of sweat gland dysfunction as well as abnormal SSNA.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Evaluation Studies as Topic
  • Fabry Disease / genetics*
  • Female
  • Heterozygote*
  • Humans
  • Hypohidrosis / genetics
  • Hypohidrosis / physiopathology*
  • Pedigree
  • Reference Values
  • Skin / innervation*
  • Sympathetic Nervous System / physiopathology*