Mixed sclerosing bone dysplasia

Changed by Craig Hacking, 25 Jul 2019

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Mixed sclerosing bone dysplasia (MSBD) is a combined and highly variable bone sclerosing ~~condition~~spectrum with ~~variable~~shared features of 3 radiological entities:

~~Little~~Some authors propose these 3 conditions are within the same sclerosing spectrum ⁵. Little is known about ~~the~~this overlap dysplasia ~~which~~, which is proposed to be due to abnormal endochondral and intramembranous ossification. It may share an underlying aetiology and loss of function mutations in the LEMD3 gene has been proposed ⁶.

It has features of all 3 components but is highly variable ~~including the etiology which maybe~~and its aetiology may be inherited or sporadic.

~~-Mixed sclerosing bone dysplasia (MSBD) is a combined bone sclerosing condition with variable features of:<ul>~~
~~-<li><a title="Osteopathia striata" href="/articles/osteopathia-striata">osteopathia striata</a></li>~~
~~-<li><a title="Melorheostosis" href="/articles/melorheostosis-1">melorheostosis</a></li>~~
~~-<li><a title="Osteopoikilosis" href="/articles/osteopoikilosis-2">osteopoikilosis</a></li>~~
-</ul>Little is known about the overlap dysplasia which is due to abnormal endochondral and intramembranous ossification. It has features of all 3 components but is highly variable including the etiology which maybe inherited or sporadic.
+Mixed sclerosing bone dysplasia (MSBD) is a combined and highly variable bone sclerosing spectrum with shared features of 3 radiological entities:<ul>
+<li><a href="/articles/osteopathia-striata">osteopathia striata</a></li>
+<li><a href="/articles/melorheostosis-1">melorheostosis</a></li>
+<li><a href="/articles/osteopoikilosis-2">osteopoikilosis</a></li>
+</ul>Some authors propose these 3 conditions are within the same sclerosing spectrum 5. Little is known about this overlap dysplasia, which is proposed to be due to abnormal endochondral and intramembranous ossification. It may share an underlying aetiology and loss of function mutations in the LEMD3 gene has been proposed 6.It has features of all 3 components but is highly variable and its aetiology may be inherited or sporadic.

References changed:

1. Wordsworth P, Chan M. Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. (2019) Calcified tissue international. 104 (5): 530-543. <a href="https://doi.org/10.1007/s00223-019-00543-y">doi:10.1007/s00223-019-00543-y</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/30989250">Pubmed</a>
2. Ghai S, Sharma R, Ghai S. Mixed sclerosing bone dysplasia--a case report with literature review. (2003) Clinical imaging. 27 (3): 203-5. <a href="https://www.ncbi.nlm.nih.gov/pubmed/12727061">Pubmed</a>
3. Ihde LL, Forrester DM, Gottsegen CJ, Masih S, Patel DB, Vachon LA, White EA, Matcuk GR. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. (2011) Radiographics : a review publication of the Radiological Society of North America, Inc. 31 (7): 1865-82. <a href="https://doi.org/10.1148/rg.317115093">doi:10.1148/rg.317115093</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/22084176">Pubmed</a>
4. Murphy-Ryan M, Kirmani S, Thompson DM, Binkovitz LA, Thomas KB, Babovic-Vuksanovic D. A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male-male transmission. (2012) American journal of medical genetics. Part A. 158A (9): 2292-6. <a href="https://doi.org/10.1002/ajmg.a.35497">doi:10.1002/ajmg.a.35497</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/22821701">Pubmed</a>
5. Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM. Sclerosing bone dysplasias: genetic and radioclinical features. (2000) European radiology. 10 (9): 1423-33. <a href="https://doi.org/10.1007/s003300000495">doi:10.1007/s003300000495</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/10997431">Pubmed</a>
6. Bansal A. The dripping candle wax sign. Radiology. 2008;246 (2): 638-40. <a href="http://dx.doi.org/10.1148/radiol.2462050537">doi:10.1148/radiol.2462050537</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/18227553">Pubmed citation</a><div class="ref_v2"></div>

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