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[Systemic mast cell disease associated with cutaneous xanthomas and markedly elevated serum IgE]
[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|September 1, 1990
Summary
Systemic mast cell disease (SMCD) is a rare condition. This case highlights a rare association with cutaneous xanthoma and elevated IgE, with treatments proving ineffective.
Area of Science:
- Hematology
- Dermatology
- Immunology
Background:
- Systemic mast cell disease (SMCD) is a rare disorder characterized by mast cell infiltration in various organs.
- Common symptoms include malaise, pruritus, diarrhea, vomiting, fever, urticaria pigmentosa, hepatosplenomegaly, and lymphadenopathy.
Observation:
- A rare case of SMCD presented with cutaneous xanthoma and hyperimmunoglobulin E (hyper IgE).
- Skin biopsy confirmed xanthomas and diffuse dermal mast cell infiltration.
- The association between SMCD and xanthoma is exceptionally rare, with only one prior reported case.
Findings:
- The hyper IgE in this case may stem from defective IgE receptors on mast cells or T/B cell dysfunction.
- Standard treatments including H1/H2 receptor blockade, disodium cromoglycate, corticosteroids, and chemotherapy (VEPA) were ineffective.
- The patient succumbed to pulmonary edema and multiple organ failure seven months post-diagnosis.
Implications:
- This case underscores the diagnostic challenges and limited treatment options for rare SMCD presentations.
- The crush method for bone marrow cytology is suggested as a more effective diagnostic tool for SMCD compared to the smear method.
- Further research into the pathophysiology of SMCD-associated hyper IgE and xanthoma is warranted.