💢 NEJM Case
A 65-year-old man presented with a 4-month rash, 2-month diarrhea, and weight loss. Exam showed a maculopapular eruption on trunk, arms, and legs [A]. Labs revealed normocytic anemia and elevated serum tryptase (>200 μg/L; normal
Immunohistochemistry was positive for CD25 and CD117 (c-Kit). Molecular testing detected the KIT D816V gain-of-function mutation. Findings established systemic mastocytosis, a disorder with mast-cell infiltration of organs including bone marrow, GI tract, and bone. Patient was treated with antihistamines and midostaurin, a c-Kit inhibitor. At 1-year follow-up, symptoms had resolved.
🆔 @InternalMed
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