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Farber lipogranulomatosis

Orpha number ORPHA333
Synonym(s) Ceramidase deficiency
Farber disease
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
Childhood
Antenatal
ICD-10
  • E75.2
ICD-O -
OMIM
UMLS
  • C0268255
  • C2936785
MeSH
  • C537075
  • D055577
MedDRA -

Summary

Farber disease is one of the rarest forms of lysosomal disease. 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, in adulthood. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly. It is an autosomal recessive disorder caused by defective enzymatic activity of acid ceramidase (a lysosomal hydrolase that hydrolyses ceramide to form sphingosine and fatty acid), leading to intracellular accumulation of ceramides. 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.

Expert reviewer(s)

  • Pr Thierry LEVADE

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