Management

Treatment of only one patient has been reported. Supplementation with 100 mg/kg of cholesterol reduces the patient’s methylsterol levels by 20%. Addition of an oral statin (atorvastatin 10 mg/day) and bile acids (30 mg/kg/day) led to increase in linear growth and weight gain with resolution of chronic arthralgias. Skin disease improved, but improved even further with administration of a topical cholesterol and statin cream. Treatment information on other patients is limited.