Refsum Disease Differential Diagnoses

Updated: May 22, 2020
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Diagnostic Considerations

See the list below:

  • Chronic and intermittent polyneuritis (eg, alpha-lipoprotein deficiency)
  • Relapsing infectious polyneuritis
  • Mitochondrial myopathies
  • Acute intermittent porphyria
  • Recurrent exposure to toxins (eg, alcohol, lead)
  • Various hereditary motor neuropathies
  • Acquired hyperkeratoses and ichthyosiform dermatoses (when evaluating skin scaling in patients with Refsum disease)

Differential Diagnoses