Farbers Disease

Farber's disease of infancy is caused by a deficiency of the enzyme ceramidase, encoded by a gene located on chromosome 8. Ceramide accumulates in the brain, visceral organs, skin, and lymph nodes. Cutaneous nodules, joint pain, hepatosplenomegaly, psychomotor regression, seizures, and a hoarse cry are characteristic clinical manifestations. The pathology is characterized by (a) widespread neuronal storage of PAS-positive ceramide; (b) foamy macrophages in viscera, lymph nodes, and bone marrow; and (c) granulomatous nodules of histio-cytes, lymphocytes, and giant cells in the skin, joints, and various tissues.

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