Refsum Disease | Foundation for Ichthyosis & Related Skin Types (FIRST)

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

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