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Farber’s disease is a lysosomal storage disorder caused by acid ceramidase deficiency.1 The main symptoms in patients without central nervous system (CNS) involvement (type 2/3), are caused by leucocyte dysregulation,2 with impaired apoptosis and signal transduction caused by intracellularly accumulated ceramide, leading to the inflammatory component of this disorder, with swelling of joints, granuloma formation, contractures and inflammatory airway involvement.6 Current treatment focuses on pain management, physical treatment, surgical correction of contractures and treatment with anti-inflammatory drugs. In rheumatoid disorders such as juvenile rheumatoid arthritis, immunosuppression or autologous haematopoietic stem cell transplantation (HSCT) can afford a substantial benefit, as treatment is based on suppression of abundant inflammatory responses by …
Competing interests: None.
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