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Related Experiment Videos

Systemic mast cell disease with splenic infarction: a case report

H Maruyama1, S Sugihara, K Ishihara

  • 1Department of Pathology, Hoshigaoka Koseinenkin Hospital, Hirakata, Japan.

Pathology International
|August 15, 1998
PubMed
Summary

This autopsy revealed systemic mast cell disease (SMCD) in a patient without skin lesions. Diagnosis was confirmed by mast cell infiltration in multiple organs, leading to organ damage.

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Area of Science:

  • Hematology
  • Pathology
  • Oncology

Background:

  • Systemic mast cell disease (SMCD) is a rare disorder characterized by abnormal mast cell proliferation.
  • Diagnosis can be challenging, especially in cases lacking typical skin manifestations.

Observation:

  • An autopsy case of a 57-year-old male with SMCD, initially misdiagnosed as liver cirrhosis or lymphoma.
  • Diagnostic confirmation was achieved through lymph node biopsy and bone marrow aspiration revealing metachromatic mast cell aggregates.
  • Autopsy findings confirmed extensive mast cell infiltration in lymph nodes, spleen, kidneys, bone marrow, liver, and intestines.

Findings:

  • Histochemical and immunohistochemical analyses confirmed the proliferating cells as mast cells, positive for markers including alpha 1-antichymotrypsin and c-kit.

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  • Mast cell infiltration led to significant organ damage, including splenic infarction and bilateral hydronephrosis.
  • Electron microscopy supported the mast cell origin of the observed lesions.

    • Implications:

    • This case highlights the importance of considering SMCD in atypical presentations, even without primary skin lesions.
    • Accurate diagnosis through specialized staining and markers is crucial for understanding disease progression and pathology.
    • The findings underscore the potential for widespread organ infiltration and damage in systemic mast cell disease.