Introducing Two Cases of Farber Disease

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 acidic pH in extracts of cultured skin fibroblasts. We presented here for the first time 2 cases of lipogranulomatosis in a 1 year-old boy and a 3 year-old girl admitted to children department Ioghman Hakim Medical center for evaluation of arthritis, periartcular nodules and other associated manifestion, skin man manifestations which were found out to be Jcukocytoclastic vasculitis on biopsy examinations in addition to limbs edema and spindle, shaped arthropaties in the first patient and pronounced horsncss and remarkable pcriartecular nodulcs,joint swlling, limited motion and not responding to conventional treatment in the second patient were of noticeable clinical findings. Synovial biopsy on the first case and subcutaneous nodular biopsy on the second one revealed sufficient macrophages filled with lipids whech were consistant with lipogranulomatosis.