Patients Information: Farber's lipogranulomatosis or ceramidosis is a rare lysosomal storage disease with autosomal recessive transmission. This disease is caused by the ceramidase acid deficiency, which leads to the accumulation of ceramides in the tissues. Children with a clear neuropathy die early in infancy, and those with no or negligible neurologic symptoms develop malignant deformation due to the appearance of granuloma in the joints, subcutaneous nodules, acoustic harshness and respiratory failure, and, ultimately, interstitial pneumonia; they die in the third and fourth decades.
In this study, 6 patients with Farber disease (5 females and 1 male) were examined in the last 7 years. In most patients, clinical symptoms included stiffness of joints and pain, weak cry, and granules around the joints. Three patients had large liver and spleen. All patients were genetically evaluated.
Conclusion: We analyzed acid ceramidase gene and detected 4 novel mutations on them. Currently, 3 patients are alive.