[Farber's lipogranulomatosis].
Farber's lipogranulomatosis is a disorder of lipid metabolism due to deficiency of lysosomal acid ceramidase. Since Farber described the first case in 1947, at least 50 cases have been reported. Clinical manifestations include progressive arthropathies with periarticular swelling, hoarse voice, multiple subcutaneous nodules and growth and developmental retardation. The histological findings indicate granuloma formation with infiltrated lipid-laden macrophages and fibroblasts. Curvilinear tubular structures, so-called "Farber bodies", are observed on electron microscopy. The specific diagnosis can be made by demonstration of a deficiency of acid ceramidase, ceramide accumulation in tissue or characteristic morphological features on biopsy or postmortem specimens. Bone marrow transplantation may be effective during the early stage of this disease.
Koga
M
M
Department of Pediatrics, Yamaguchi University School of Medicine.
D055573:Acid Ceramidase; D000581:Amidohydrolases / Q000172:deficiency*; D055572:Ceramidases; D002518:Ceramides / Q000378:metabolism; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000209:etiology / Q000473:pathology; D008247:Lysosomes / Q000201:enzymology; D012867:Skin / Q000473:pathology
D002518:Ceramides; D000581:Amidohydrolases; C526693:ASAH1 protein, human; D055573:Acid Ceramidase; D055572:Ceramidases