Farber disease

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Farber disease is a very rare lysosomal disease caused by a deficiency of cermidase.

The inheritance in autosomal recessive.

The main clinical features are:

  • hoarse voice
  • granulomatous skin lesions
  • arthritis
  • hepatosplenomegaly
  • lymphadenopathy
  • variable neurological involvement

In the classical form of the disease death occurs before age 3. Patients with mild disease may live into their teenage.

Last reviewed 01/2018