Images in Clinical Practice

Indian Pediatrics 2002; 39:502

Farber’s Disease

A 6-year-old girl born of a consanguineous marraige presented with painful joint swellings involving multiple joints, increasing number of subcutaneous nodules, progressive mental retardation and decreasing visual acuity, starting at the age of one year. There was no family history of similar complaints. Multiple joints, big and small were involved including knee, elbow, wrist and small joints of hands (Fig.1) and feet. Slowly, contractures began to develop in all the affected joints. Subcutanceous nodules were found over the joints, pinna (Fig. 2), shin and forearm. Ophthalmic examination revealed macular degeneration. X-rays of joints and blood investigations were not suggestive of rheumatoid arthritis. Typical clinical picture in the above case clinched the diagnosis of Farber’s disease.

Fig. 1. Photograph showing involvement of hands with multiple nodules.

Farber’s disease is an autosomal recessive disorder of neutral lipids in which, as a result of acid cermidase deficiency, accumulation of ceramide occurs in various tissues, especially joints. Onset may be infantile or juvenile with arthropathy (painful joint swellings), subcutaneous nodules, mental retardation and macular degeneration being the main features. Nodules may affect vocal cords causing hoarseness of voice and breathing difficulty. Death may occur in teenage as a result of recurrent pneumonia.

Fig. 2. Photograph showing subcutaneous nodules over pinna.

Many patients are treated for rheumatoid arthiritis, but the diagnosis should be suspected if patients present with arthropathy and nodule formation without any feature of rheumatoid arthritis. Nodules are granulomas of foam cells containing ceramide. Diagnosis can be confirmed by showing low ceramidase activity in cultured fibroblasts or WBCs. There is no specific therapy.