Farber disease in a patient from China

Farber disease (FD) is a rare lysosomal storage disorder caused by mutation of theASAH1gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. Here we report a 25-year-old female FD patient with rare osteolytic changes of bilateral hands and toes. Genetic analysis revealed novel compound heterozygous mutations in theASAH1gene (c.427T>G and c.358G>C). Further research is needed to elucidate the pathophysiological course.