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- W1815690128 abstract "To the Editor: In their article “Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis,” Whyte and colleagues1 accurately describe the case of unknown etiology and pathogenesis of an 11-year-old boy with a syndrome that radiographically mimics osteopetrosis, but features rapid skeletal turnover. In similar cases the presence of systemic mastocytosis (SM) should be taken into account. Recently we described two cases of diffuse “osteopetrosis-like osteopathy” secondary to SM,2 a clonal disorder with complex manifestations determined by the proliferation and accumulation of mast cells (MCs) in various organs (mainly in skin and bone marrow) and by the release of soluble mediators. In these patients, characterized by bone mineral density Z-score higher than +2.0 both at the lumbar spine (L1–L4) and at the proximal hip by dual-energy X-ray absorptiometry (DXA) (Hologic QDR Delphi; Hologic, Waltham, MA, USA) and by radiological features of osteopetrosis (sclerotic skull, generalized osteosclerosis, and thick cortices), we observed that bone turnover markers (BTMs) were particularly elevated, consistent with an observed increase and diffuse uptake at bone scintigraphy. This was the first complete documentation that the diffuse osteosclerosis associated with SM is not an “osteopetrosis-like osteopathy,” as reported,3 but a skeletal disease characterized by increased bone turnover. This has been recently confirmed histologically on bone biopsies from patients with osteosclerosis and SM, in whom, in addition to an increase in trabecular bone volume, high bone turnover features were observed.4 In our patients with diffuse osteosclerosis secondary to SM, serum tryptase levels were particularly high, and it is known that elevated tryptase levels are associated with greater bone mineral density in patients with SM.5, 6 Interesting, in patients with SM we observed that serum tryptase levels significantly correlated also with bone alkaline phosphatase serum levels, a marker of bone formation.6 The pathogenesis of SM-related osteosclerosis remains obscure, although it is known that MCs can exert a direct stimulatory effect on osteoblasts proliferation, recruitment, and activity.7 On the other hand, MC products, possibly via tryptase release, were shown to activate osteoblasts and to increase osteoprotegerin production, thereby limiting osteoclast-mediated bone resorption.7" @default.
- W1815690128 created "2016-06-24" @default.
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- W1815690128 date "2015-04-16" @default.
- W1815690128 modified "2023-09-25" @default.
- W1815690128 title "A Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis" @default.
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- W1815690128 doi "https://doi.org/10.1002/jbmr.2456" @default.
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