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Related Experiment Videos

Generalized anhidrosis associated with Fabry's disease.

W H Kang1, S I Chun, S Lee

  • 1Department of Dermatology, Yonsei University Wonju College of Medicine, Korea.

Journal of the American Academy of Dermatology
|November 1, 1987
PubMed
Summary
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This study details a Korean man diagnosed with Fabry disease, identified by anhidrosis, heat intolerance, and confirmed by low alpha-galactosidase activity. Ultrastructural skin analysis revealed characteristic inclusions, aiding diagnosis despite absent angiokeratomas.

Area of Science:

  • Genetics
  • Dermatology
  • Metabolic Disorders

Background:

  • Fabry disease is a rare genetic disorder affecting multiple organ systems.
  • It is caused by mutations in the GLA gene, leading to alpha-galactosidase deficiency.
  • Clinical presentation can be variable, sometimes lacking typical cutaneous signs.

Observation:

  • A 28-year-old Korean male presented with generalized acquired anhidrosis and heat intolerance.
  • He also experienced fever, severe lower extremity pain, and leg edema, suggestive of Fabry disease.
  • Cutaneous angiokeratomas, a common sign, were absent in this patient.

Findings:

  • Ultrastructural examination of normal skin revealed diagnostic intracytoplasmic inclusions.
  • These inclusions were observed in endothelial cells, pericytes, fibroblasts, perineural cells, and eccrine gland secretory cells.

Related Experiment Videos

  • Leukocyte alpha-galactosidase activity was markedly decreased, confirming the diagnosis of Fabry disease.

    • Implications:

    • This case highlights the importance of considering Fabry disease even without classic skin lesions.
    • Ultrastructural analysis of skin can be crucial for diagnosis in atypical presentations.
    • Early diagnosis and management are vital for preventing severe complications associated with Fabry disease.