Farber disease

a lysosomal storage disease of ceramide metabolism due to defective acid ceramidase and marked by painful swelling of joints, nodules over affected joints and over pressure points, hoarseness that may progress to aphonia, and feeding and respiratory problems, usually beginning during the first few months after birth and often leading to death within a few years. There is granulomatous infiltration of subcutaneous tissues, joints, and organs, including the liver, spleen, heart, and lung, and the neurons of the brain and spinal cord often show accumulation of ceramides and gangliosides. Called also Farber lipogranulomatosis, and ceramidase deficiency.