Farber disease
Last reviewed 01/2018
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.