Farber's disease

Farber's disease

 [fahr´berz]

a lysosomal storage disease and sphingolipidosis, transmitted as an autosomal recessive trait, due to deficiency of the enzyme ceramidase.

Farber's disease, Farber's lipogranulomatosis

[fär′bərz]

Etymology: Sidney Farber, American pediatrician, 1903-1973

a lysosomal storage disease of ceramide metabolism resulting from defective ceramidase, marked by hoarseness; aphonia; a brownish desquamating dermatitis that begins at about 3 months of age; foam cell infiltration of bones and joints that causes deformations; granulomatous reaction in lymph nodes, heart, lungs, and kidneys; and psychomotor retardation. Also called ceramidase deficiency.