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Farber's disease or Farber’s lipogranulomatosis

Description of Farber's disease or Farber’s lipogranulomatosis

Farber disease is one of the rarest forms of lysosomal disease. It is an autosomal recessive disorder due to the defective enzymatic activity of acid ceramidase (a lysosomal hydrolase that hydrolyses ceramide to sphingosine and fatty acid), leading to intracellular accumulation of ceramides.

Clinically, the disorder shows various forms. The onset may occur early in infancy or much later, causing death within the first year or in some cases at an adult age. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly.

Diagnosis is confirmed by assaying the activity of acid ceramidase or by studying lysosomal ceramide catabolism in peripheral blood leucocytes or cultured skin fibroblasts. Prenatal diagnosis is available. Currently there is no specific therapy, and symptomatic treatment is based on antalgics, corticotherapy, and plastic surgery. * Author: T. Levade, M.D. (May 2002) *


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