Authors
Huy H Do, Balasubramanian Krishnamurthy, Vivian Grill, Christopher Leow, Hanh H Nguyen
Published in
JCEM case reports. Volume 4. Issue 9. Pages luag228. Epub Aug 24, 2026.
Abstract
Osteosclerosis refers to an abnormal increase in bone density resulting from excessive bone formation and/or reduced bone resorption. We present a case of a 31-year-old woman with acute-on-chronic abdominal pain, flushing, and diarrhea. Diffuse, mottled sclerosis involving the entire axial and appendicular skeleton was incidentally identified on imaging. Diagnostic investigations for osteosclerosis revealed a raised tryptase, leading to a bone marrow and trephine analysis. This demonstrated abnormally spindle-shaped mast cells, more than 15 in a group, with positive staining for tryptase which was consistent with systemic mastocytosis (SM). In the absence of "C" findings, a diagnosis of indolent SM complicated by diffuse osteosclerosis was made. Treatment with a histamine type-2 receptor antagonist provided mild symptomatic relief. In this report, we discuss the differential causes of osteosclerosis and the pathogenesis of bone manifestations related to SM, along with subtype-specific SM treatment options.
PMID:
42634794
Bibliographic data and abstract were imported from PubMed on 24 Aug 2026.
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