Denouement and Discussion
Farber's Disease (Lipogranulomatosis)
Manifestations
The major manifestations include nodular masses mainly over the wrists and ankles, joint swellings and restriction of movement, mental retardation, and marked failure to thrive. Death usually occurs by 2 years of age. Other manifestations consist of recurrent infections, weak and hoarse cry, noisy breathing, hyperirritability, dyspnea, hepatomegaly, flesh colored papular eruptions, xanthoma-like lesions on the face and hands, and hyporeflexia. Histiocytes, lymphocytes, fibroblasts, and foam cells are seen on microscopic examination of the nodules. An increase in the ceramide level and ganglioside content of these tissues has also been reported.
Genetics
At the present time the condition appears to be inherited as an autosomal recessive trait.
Treatment
The majority of the patients die by 2 years of age. Various types of treatment have been used including corticosteroids and radiotherapy but these have been of no obvious benefit.