Refsum Disease Medication

Updated: May 22, 2020
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Medication Summary

Appropriate medications consist of skin care products (eg, keratolytics, emollients). Research has shown that enzymes responsible for the omega-hydroxylation of phytanic acid could be useful in Refsum disease treatment. Elevation of CYP4 enzymes could have a favorable role in the elimination of phytanic acid in persons with Refsum disease. Targeting CYP4 enzymes may represent a future therapeutic option. [35]



Class Summary

Used to soften and exfoliate the skin.

Urea (Carmol, Ureacin-40, Aquacare)

Urea is indicated for hyperkeratosis. It promotes hydration and the removal of excess keratin in conditions of hyperkeratosis. Urea is available in 10-40% concentrations.

Ammonium lactate (Lac Hydrin)

Ammonium lactate contains lactic acid, an alpha-hydroxy acid that has keratolytic action, thus facilitating release of comedones. It comes in 12% and 5% strengths. The 12% strength may cause irritation on the face. Ammonium lactate causes disadhesion of corneocytes.

Mineral oil (Kondremul, Zymenol)

Mineral oil provides relief of minor skin irritations and promotes the removal of excess keratin in conditions of hyperkeratosis. It  is found in a variety of topical lotions.