Osteomesopyknosis: Report of a new case with bone histology

Hardouin, Pierre; Flautre, B.; Sutter, B.; Leclet, H.; Grardel, B.; Fauquert, P

doi:10.1016/8756-3282(94)90895-8

Cited by 8 publications

(6 citation statements)

References 10 publications

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“…Blood analysis is usually normal. Scintigraphy may show an increased uptake of radiotracer, such as seen in our two cases [3,4,11]. Most of the patients have additional lesions in the iliac bones, some of them in the femoral head, and one [2].…”

Section: Discussionmentioning

confidence: 78%

“…In addition, in axial osteomalacia radiographs show a distinct radiologic pattern with coarsening of the trabecular bone, a Bsponge-like^ap-pearance of the spine and fuzzy cortices [12][13][14]. In some cases of osteomesopyknosis, the most salient radiologic findings are patchy sclerotic lesions located in the vertebral bodies and posterior elements of the spine rather than dense endplates [1,3,11,15,16]. This radiologic presentation can misleadingly raise the suspicion of blastic metastasis.…”

Section: Discussionmentioning

confidence: 98%

“…Histopathologic findings in osteopetrosis, however, are distinct from osteomesopyknosis. In osteopetrosis the biopsy shows cores of cartilage covered by woven bone in the marrow, whereas in osteomesopyknosis the predominant histopathologic pattern is increased trabecular thickening [11]. No mineralization defect is seen, such as in axial osteomalacia, another entity sometimes related to osteomesopyknosis.…”

Section: Discussionmentioning

confidence: 98%

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Osteomesopyknosis—a benign axial hyperostosis that can mimic metastatic disease

et al. 2015

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We report two cases of an axial osteosclerosis with histopathologic findings of osteomesopyknosis in siblings. Osteomesopyknosis is a benign hereditary osteosclerosis that can show a radiologic pattern similar to blastic metastatic disease. The aim of this article is to inform radiologists about the existence of this benign condition and its various radiologic manifestations. Therefore, we discuss the principal differential diagnosis and point out the key imaging findings of osteomesopyknosis in order to avoid overdiagnosis in future cases.

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Section: Discussionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 98%

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Osteomesopyknosis—a benign axial hyperostosis that can mimic metastatic disease

et al. 2015

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“…Cette dysplasie bénigne, transmise sur le mode autosomique dominant, est habituellement découverte au début de l'adolescence ou chez l'adulte jeune en raison de rachialgies mais elle peut l'être de manière fortuite [67,118] . En radiographie, une ostéocondensation grossière, hétérogène s'observe essentiellement au rachis avec un discret renforcement le long des plateaux vertébraux (aspect en « maillot de rugby »), au bassin ( fig .…”

Section: Ostéomésopycnoseunclassified

Ostéochondrodysplasies

Boutry¹,

Amzallag-Bellenger²,

Dieux³

et al. 2013

Imagerie Musculosquelettique : Pathologies Générales

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“…Several reports of familial cases across multiple generations suggest an autosomal dominant transmission (Delcambre et al., 1989 ; Hardouin et al., 1994 ; Yao & Camacho, 2014 ). However, the involved genes are still unknown because those reports did not include gene variant analyses.…”

Section: Introductionmentioning

confidence: 99%

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway

Fernandez‐Luna,

Hernández,

Curiel‐Olmo

et al. 2024

Molec Gen & Gen Med

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BackgroundBone tissue homeostasis relies on the coordinated activity of the bone‐forming osteoblasts and bone‐resorbing osteoclasts. Osteomesopyknosis is considered a distinctive rare sclerosing skeletal disorder of unelucidated pathophysiology and presumably autosomal dominant transmission. However, the causal genes are unknown.MethodsWe present a case report encompassing clinical assessments, imaging studies, and whole‐exome sequencing analysis, complemented by functional in vitro experiments.ResultsThis new case of osteomesopyknosis was associated with a missense ALOX5 variant predicted to induce protein misfolding and proteasomal degradation. Transfection experiments demonstrated that the variant was associated with reduced protein levels restored by proteasomal inhibition with bortezomib. Likewise, gene expression analysis showed that the mutated gene was associated with a decreased RANKL/OPG ratio, which is a critical driver of osteoclast precursor differentiation.ConclusionOur data indicate impaired bone resorption as the underlying mechanism of this rare osteosclerosis, implicating ALOX5 pathogenic variants as potential etiological factors.

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Osteomesopyknosis: Report of a new case with bone histology

Cited by 8 publications

References 10 publications

Osteomesopyknosis—a benign axial hyperostosis that can mimic metastatic disease

Osteomesopyknosis—a benign axial hyperostosis that can mimic metastatic disease

Ostéochondrodysplasies

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway

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