Rare, inheritable, disturbance of the fatty metabolism induced by a lysosomal enzyme deficiency with accumulation of ceramide in the tissues. Recognizable at birth or shortly after; manifests with failure to thrive, hoarse cry, feeding difficulty, irritability, motor and mental retardation and erythematous periarticular swellings (nodular plaques in the skin), swelling of joints of extremities, liability to recurrent infections, and cardiac and renal failure. The accumulated substance is mainly chondoritin sulphate B. The course is progressive and death occurs in infancy. Massive body demineralisation and articular erosion may be associated. The carpus may have an appearance similar to that in juvenile rheumatoid arthritis. Histologically, the lesions are granulomatous, and there is an excess of ceramide in the cytoplasm and mast cells. Inheritance is autosomal recessive. First described by Farber in 1952 and again in 1957.
- S. Farber:
A lipid metabolism disorder -disseminated "lipogranulomomatosis” - a syndrome with similarity to, and important difference from Niemann-Pick and Hand-Schüller-Christian disease.
American Journal of Diseases of Children, Chicago, 1952, 84: 499-500.
- S. Farber, J. Cohen, L. L. Uzman:
Lipogranulomatosis: A new lipo-glyco-protein “storage” disease.
Journal of the Mount Sinai Hospital, New York, 1957, 24: 816-837.