Pathophysiology of Farber’s Disease
Farber’s disease is disseminated lipogranulomatosis of infancy and early childhood owing to defect in ceramidase
Signs and Symptoms
1) onset of swollen, painful joints shortly after birth
2) weak cry
3) severely stunted growth and motor development
4) large yellow-red nodules on areas of mechanical stress (wrists, fingers, elbows, knees, and toes)
5) stridor – owing to growths on vocal cords and epiglottis
6) growths in nervous system
Histology/Gross Pathology
infiltration of skin with foamy histiocytes, granulomas, and eventual fibrosis (nervous system does not develop granulomas)
Associated Conditions
1) nodular thickening of heart valves
2) retinal degeneration
Biochemistry
1)Â in Farber’s disease ceramidase is a lysosomal acid that breaks ceramide into fatty acid and sphingosine
2) tissues have 10-60 times more ceramide than normal
Inheritance/Epidemiology
1)Â Farber’s disease is autosomal recessive
2) death is usually by 2 years of age
Tips for USMLE
if an 11 month-old boy has painful, swollen knees and ankles and yellowish-red plaques on his knuckles bilaterally, think Farber’s
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