The fatty acid composition of skin and plasma lipids in Refsum's disease.

The fatty acid composition of the skin and plasma lipids is described in a patient severely affected by Refsum's disease whose plasma phytanic acid concentration was very high (3.1 mg/ml). In the epidermal lipids, especially in the phospholipid fraction, phytanic acid tended to replace linoleic acid and to some extent arachidonic acid. In some respects the changes in the skin in Refsum's disease resemble those of essential fatty acid deficiency.