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Symptoms and Signs of Farber Disease

Last Updated on Oct 09, 2014
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Symptoms and Signs of Farber Disease

In Farber disease, characteristic skin nodules arise near joints, especially in the fingers, wrist, elbow, and ankle joints.

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Farber disease affects multiple systems in the body. The usual onset of the disease is before the age of one year. Painful, deformed joints are characteristic of the condition. Skin nodules arise near joints, especially in the fingers, wrist, elbow, and ankle joints. Points of mechanical pressure are also affected. Joints become extremely painful and the disease may lead to progressive joint stiffness. Limitation of movements and finally immobilization and deformation ensue.

The lungs, nervous system, heart and lymph nodes may also be affected. The extent and severity of the disease varies among affected individuals. There may be progressive deterioration of the nervous system. The cause of death may be severe disease of the lung (e.g. interstitial pneumonia). Involvement of larynx may manifest as hoarseness of voice. Feeding difficulties, poor weight gain, and intermittent fever have also been reported.

References:

  1. Case report: Farber's disease (lysosomal acid ceramidase deficiency) R A JAMESON, P J L HOLT, AND J H KEEN From Booth Hall Children's Hospital, Manchester, Annals of the Rheumatic Diseases, 1987; 46, 559-561
  2. Farber S: A lipid metabolic disorder: disseminated lipogranulomatosis: a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease. American Journal of Diseases in Childhood 1952, 84(4): 499-500
  3. Farber S, Cohen J, Uzman LL: Lipogranulomatosis: a new lipo-glycoprotein storage disease. Journal of Mt Sinai Hospital N Y 1957, 24(6): 816-837.
  4. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Karoline Ehlert, Michael Frosch, Natalja Fehse, Axel Zander, Johannes Roth and Josef Vormoor Pediatric Rheumatology 2007, 5:15

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