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Farber’s Disease (also known as Disseminated Lipgranulomatosis, Ceramidase Deficiency or Farber-Uzman Syndrome) was first described by Sidney Farber in 1952. It is caused by a deficiency in the Lysosomal enzyme ceramidase, resulting in an accumulation of ceramide and chondroitin in the tissues. Recognizable at birth or shortly thereafter, Farber’s Diseases manifests with failure to thrive, hoarse cry, feeding difficulty, irritability, motor and mental retardation, erythematous periarticular swellings (nodular plaques in the skin), swelling of joints of extremities, liability to recurrent infections, and cardiac and renal failure. Massive body demineralization and articular erosion may occur and the carpus may have an appearance similar to that in juvenile rheumatoid arthritis. As with most Lysosomal Storage Diseases, the course of Farber’s Disease is progressive and death typically occurs in infancy. |