Farber disease o Lipogranulomatosis type 2 and 3 . Ceramide deficiency. Acid ceramidase deficiency.
Incidence
AR disease. Rare, only 10 patients reported, milder than type 1. Later onset.
Clinical Characteristics
Onset of the disease is in early infancy or second year of life. Clinical characteristics similar to type 1 but lungs are not involved. Only 1/3 of patients have mental developmental delay. Brain is minimally affected. Patients with the juvenile form of the disease survive to the sub or early teens, with progressive neurologic disability and seizures, all compounded by the joint deformities and subcutaneous nodules. Death occur between 5 and 18 years of age.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-W. The most definitive diagnostic test is the demonstration of deficient acid ceramidase activity in white blood cells, cultured skin fibroblasts or cultured amniocytes. Foamy histiocytes are found in bone marrow and fron subcutaneous nodules. Typical inclusions in EM. Evaluation of tissue material by GC/MS or thin-layer chromatography (TLC) show ceramide accumulation. CSF protein is usually very elevated.