farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). characteristics are early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement in affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. thre...

Lipogranulomatosis or Farber's disease in a rare autosomal recessive disorder characterized by swollen, tender joints, periarticular and subcutaneous nodules, horsncss and progressive aphonia. Hepatosplcnomcgaly and C.N.S. involvements arc also reported in certain patients. The disorder is caused by a deficiency of acid ceramidase which may be best diagnosed by missing ceramidasc activity at a...

» This represents a truly significant advancement in the study of this disorder. « Farber disease (Lipogranulomatosis) is a rare, invariably fatal, inherited metabolic disorder first described by Sidney Farber in 1957 (Farber et al, 1957). Farber disease is inherited in an autosomal recessive fashion and is caused by mutations in the lysosomal acid ceramidase (ASAH1) gene. Therefore, Farber dis...

Introduction Farber lipogranulomatosis (Farber Disease; FD) is an ultra-rare lysosomal storage disorder resulting from the inherited deficiency of the enzyme acid ceramidase, and the accumulation of the lipid substrate, ceramide. Ceramide is a pro-inflammatory and pro-apoptotic lipid that has been implicated in the pathogenesis of cartilage disorders. Farber Disease has a heterogeneous presenta...