Farber Lipogranulomatosis
Pathogenesis (Lysosomal Storage Disorder)
- Ceramidase deficiency results in failure of ceramide break down into sphingosine and fatty acid, instead the ceramide (a form of fat) accumulates in lysosomes in several organ systems: musculoskeletal system (around the joints), lungs, liver, colon, and nervous system.
Clinical
- Classic Presentation: Weak Cry, Lipogranulomas (fatty lumps under the skin), Swollen/Painful Joints
- Survival: Infancy to Childhood, depending on the severity of the illness and nervous system and respiratory involvement.
Genetics
- ASAH1 gene
- Autosomal recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov