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Systemic mastocytosis without cutaneous involvement.

S Katsuda, Y Okada, Y Oda

    Acta Pathologica Japonica
    |January 1, 1987
    PubMed
    Summary
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    This autopsy case highlights systemic mastocytosis without skin lesions in an elderly woman. The patient experienced organomegaly and disseminated intravascular coagulation (DIC) before diagnosis via bone marrow biopsy.

    Area of Science:

    • Hematology
    • Pathology
    • Oncology

    Background:

    • Systemic mastocytosis (SM) is a rare myeloproliferative neoplasm characterized by abnormal mast cell accumulation.
    • Cutaneous involvement is typical, but rare cases present without skin manifestations.

    Observation:

    • An autopsy case of a 76-year-old woman with systemic mastocytosis lacking cutaneous signs is presented.
    • The patient exhibited malaise, abdominal discomfort, flushing, and progressive hepatosplenomegaly.
    • The disease progressed to disseminated intravascular coagulation (DIC) and death within two months.

    Findings:

    • Diagnosis was confirmed by bone marrow biopsy showing abnormal mast cell aggregates.
    • Mast cell granules were positive for chloroacetate esterase and negative for peroxidase.

    Related Experiment Videos

  • Electron microscopy revealed fine granular material with lamellar structures within mast cells.
  • Autopsy demonstrated diffuse mast cell infiltration in multiple organs, including liver, spleen, bone marrow, lymph nodes, lungs, kidneys, stomach, and adrenal glands.

    • Implications:

    • This case underscores the importance of considering systemic mastocytosis even in the absence of skin findings.
    • Early diagnosis and management are crucial for improving outcomes in patients with aggressive forms of SM.
    • Understanding the diverse presentations of SM is vital for accurate clinical diagnosis and patient care.