Farber Disease (Disseminated Lipgranulomatosis)
Etiology & Pathogenesis
Enzyme deficiency results in accumulation in lysosomes of PAS-positive lipid consisting of ceramide, leading to cell damage with an inflammatory response.
Key Symptom Images
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| Swollen joints |
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Lymphadenopathy |
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Hepatosplenomegaly |
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Image Credits: Swollen joints courtesy of eMedicine.com, Inc., 2004. Lymphadenopathy courtesty of Virat Sirisanthana, MD. Hepatosplenomegaly courtesy of The National MPS Society, Inc.
Clinical Description [1] and Progression/Prognosis A form of mucolipodosis developing soon after birth and characterized by swollen joints; formation of nodules or granules in subcutaneous tissue, around joints, on vocal cords, and in the upper airway; and lymphadenopathy. There may be several variants, ranging from mild to severe. Farber disease is a progressive disease; it often leads to death during the first few years of life. A rapidly fatal neonatal form, a form with progressive neurologic disability associated with cherry red spots, and milder phenotypes with later onset and longer survival have been observed. Inheritance pattern: autosomal recessive Incidence: Rare: incidence unknown Diagnosis: Triad of subcutaneous nodules, arthritis and laryngeal involvement. Reduced acid ceramidase activity in cultured skin fibroblasts, leukocytes, amniocytes. Conditions with similar presentations: Juvenile rheumatoid arthritis, sarcoidosis, multicentric reticulohistiocytosis. Management: no disease-specific treatment available Other medical care: symptom management
 Painful joint swelling and nodule formation Nodular enlargement; joint deformity Hoarseness Breathing difficulties; respiratory distress Recurrent pneumonias Gastrointestinal Feeding and swallowing difficulties Failure to thrive Hepatomegaly/hepatosplenomegaly in 25% of cases Ocular Cherry-red macular spots and retinal pigmentary mottling Granulomas in and around the eye Neurologic Lack or absence of deep tendon reflexes Signs of denervation Impaired psychomotor development Back to categories
1. Hensyl W, ed. Stedman’s Medical Dictionary. 25th ed. Baltimore: Williams & Wilkins; 1990; p. 885.
2. Hugo W. Moser, Thomas Linke, Anthony H. Fensom, Thierry Levade, Konrad Sandhoff. “Acid Ceramidase Deficiency: Farber Lipogranulomatosis.” The Metabolic and Molecular Bases of Inherited Disease, 8th Edition Online. McGraw-Hill. http://genetics.accessmedicine.com/server-java/Arknoid/amed/mmbid/co_chapters/ch143/ch143_p01.html Accessed September 2004. |
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