Refsum Disease

Other names: heredopathia atactica polyneuritoformis;phytanic acid storage disease

OMIM: 266500

Inheritance: autosomal recessive

Incidence: very rare

Key findings: neurologic findings usually precede skin findings

  • skin: generalized, flat, dark scales of varying severity and extent

Associated findings:

  • neurologic: cerebellar ataxia, peripheral neuropathy
  • eyes: progressive visual loss
  • ears: progressive hearing loss
  • heart: arrhythmias

Age at first appearance: neurologic findings usually detected during the first or second decade; skin findings usually later

Long-term course: onset is insidious; neurologic changes progressive but vary with diet; reduced life-expectancy

Diagnostic tests: biochemical measurements on blood or skin cells; analysis of cellular DNA

Abnormal gene: phytanyl CoA hydroxylase

 


Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other.

Clinicians seeking diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis



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