Abstract
This chapter discusses Refsum's disease, which is a biochemically well-defined disease for which there is a specific dietary treatment. The disease is characterized by pigmentary retinal degeneration—retinitis pigmentosa—chronic polyneuropathy, ataxia, and an increase in cerebrospinal fluid protein with normal cell content. Ataxia and other cerebellar signs have been prominent in many cases, and sometimes, unsteadiness of gait has been the only presenting symptom. Many patients with Refsum's disease experience skin changes. Only a few histologic examinations of the skin in Refsum's disease have been reported. The keratinization disturbance in Refsum's disease has been investigated by Anton–Lamprecht and Kahlke by means of electron microscopy and compared to the keratinization pattern of the common inherited ichthyoses. The diagnosis is based on the clinical picture, the demonstration of an increased level of phytanic acid in serum, and a decreased capacity for α-oxidation of phytanic acid.
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