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Related Experiment Videos

Farber disease: pathologic diagnosis in sibs with phenotypic variability.

S J Qualman1, H W Moser, D Valle

  • 1Department of Pathology, Johns Hopkins Hospital, Baltimore, Maryland.

American Journal of Medical Genetics. Supplement
|January 1, 1987
PubMed
Summary

New pathologic findings in Farber lipogranulomatosis reveal atypical visceral involvement and a novel nephropathy. Biochemical analysis is crucial for diagnosing Farber disease with unusual presentations.

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Area of Science:

  • Genetics and Patholog y
  • Rare Diseases
  • Biochemistry

Background:

  • Farber lipogranulomatosis is a rare lysosomal storage disorder.
  • It is characterized by ceramide accumulation, leading to painful joint swelling, lipomas, and tissue damage.
  • Typical presentations can vary, complicating early diagnosis.

Observation:

  • Two siblings with Farber lipogranulomatosis presented with distinct clinical and pathological features.
  • One sibling showed atypical hepatosplenomegaly, mimicking malignant histiocytosis.
  • The other sibling presented with classic hoarseness and painful joint swelling.

Findings:

  • Autopsy revealed storage material in laryngeal and periarticular subcutaneous tissues.
  • Both siblings exhibited prominent visceral involvement, including a newly identified nephropathy with elevated urine ceramide levels.

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  • Massive histiocytic infiltrates with elevated ceramide levels were found in the liver and spleen.

    • Implications:

    • These cases highlight previously undescribed pathologic anomalies in Farber disease.
    • The findings suggest that visceral and renal involvement can be more extensive than previously recognized.
    • Biochemical analysis of biopsy specimens is essential for diagnosing atypical cases of Farber disease.