A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects.
A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions. Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the disease: a severe type, an intermediate type and a relatively mild type. The activity of acid ceramidase does not correlate with prognosis of the disease, while a correlation between first appearance of dermal nodules and clinical course appears likely.
D055573:Acid Ceramidase; D000328:Adult; D000581:Amidohydrolases / Q000172:deficiency; D055572:Ceramidases; D005260:Female; D006099:Granuloma / Q000473:pathology; D006685:Hoarseness / Q000473:pathology; D006801:Humans; D007592:Joint Diseases / Q000473:pathology; D008068:Lipomatosis / Q000473:pathology*; D008214:Lymphocytes / Q000648:ultrastructure; D012867:Skin / Q000648:ultrastructure
D000581:Amidohydrolases; C526693:ASAH1 protein, human; D055573:Acid Ceramidase; D055572:Ceramidases