[A case of Farber's disease--histochemical, electron microscopic and biochemical studies].
A case of Farber's disease (disseminated lipogranulomatosis) is reported. A Japanese boy presented with progressive joint deformity, a hoarse voice, mental retardation and skin granulomatous lesions. He died of bronchopneumonia at the age of 2 years. Biopsied specimen from the perianal granulomatous lesion showed many macrophage contained lipids, and acidic oligo-, or polysaccharides, or, glycoconjugates. Electron microscopic study revealed, in addition to curvilinear tubular bodies (Farber's bodies), numerous granular structures accumulated in the cytoplasm of the macrophage. Biochemical analysis demonstrated a storage of free ceramide in the patient's liver, and confirmed the patient's diagnosis. This is the 5th case reported in Japan.
Department of Deramtology, Yamaguchi Rosai Hospital.
S
S
Hamanaka
A
A
Hara
F
F
Otsuka
D000581:Amidohydrolases / Q000172:deficiency; D055572:Ceramidases; D006099:Granuloma / Q000378:metabolism* / Q000473:pathology; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000378:metabolism* / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000378:metabolism / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000378:metabolism / Q000648:ultrastructure; D012871:Skin Diseases / Q000378:metabolism* / Q000473:pathology
D000581:Amidohydrolases; D055572:Ceramidases