ORAL DIMETHYL-SULFOXIDE TREATMENT IN 3 PA TIENTS WITH LIPOID PROTEINOSIS - RESULTS OF A LONG-TERM TREATMENT SCHEDULE

Lipoid proteinosis is a rare autosomal recessive disorder with a chron ic, benign course. There is no generally accepted systemic therapy apa rt from the experimental oral use of dimethyl sulphoxide (DMSO) and et retinate in two single cases. We treated two sisters and an unrelated man with lipoid proteinosis with longterm oral DMSO (60 mg/kg/d). At t he end of an average treatment time of 3 years, DMSO was withdrawn bec ause it produced no beneficial effects with regard to their skin, muco sal lesions or hoarseness. Additionally, one patient showed progressio n of her disease with worsening hoarseness and onset of dyspnea, requi ring surgical removal of vocal cord infiltrates. Three patients with l ipoid proteinosis failed to show any beneficial response to long term treatment with DMSO.