Biomaterial Database

[A case of Farber's disease--histochemical, electron microscopic and biochemical studies]. 1991

S Hamanaka, and A Hara, and F Otsuka

Department of Deramtology, Yamaguchi Rosai Hospital.

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.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008064	Lipidoses	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.	Lipidosis,Lipoidosis
D008297	Male		Males
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D006099	Granuloma	A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents.	Granulomas
D006651	Histocytochemistry	Study of intracellular distribution of chemicals, reaction sites, enzymes, etc., by means of staining reactions, radioactive isotope uptake, selective metal distribution in electron microscopy, or other methods.	Cytochemistry
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000581	Amidohydrolases	Any member of the class of enzymes that catalyze the cleavage of amide bonds and result in the addition of water to the resulting molecules.	Amidases,Amidohydrolase
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D012871	Skin Diseases	Diseases involving the DERMIS or EPIDERMIS.	Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease