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Case report demonstrates successful diagnosis of extramedullary hematopoiesis in a patient with pachydermoperiostosis, suggesting the value of imaging techniques.
A 41-year-old man with pachydermoperiostosis (PDP) due to an SLCO2A1 mutation presented with abdominal pain and persistent diarrhea. Initial CT showed an ill-defined presacral fatty mass. 18 F-FDG PET/CT demonstrated mild uptake (SUVmax=2.1) in the lesion and marked peripheral marrow activity, suggesting extramedullary hematopoiesis (EMH) but not excluding liposarcoma. 111 In chloride scintigraphy with SPECT/CT confirmed EMH by showing uptake in the presacral mass, thereby excluding liposarcoma and obviating biopsy or surgery. This case highlights the diagnostic value of nuclear imaging in differentiating EMH from liposarcoma in PDP.
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Kim et al. (2026) studied this question.
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