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

Associated findings:

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


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

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.


This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.



« Back to Previous Page