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Osteopoikilosis

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56: 177: 120: 201: 32: 189: 104:, which can also present radiographically as white densities interspersed throughout bone. Blastic metastasis tends to present with larger and more irregular densities in less of a uniform pattern. Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger. 542: 527: 221: 465:
Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP (2007). "Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke–Ollendorff syndrome, but not sporadic melorheostosis".
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is characterized by a pattern of numerous white densities of similar size spread throughout all the bones. This is a systemic condition. It must be differentiated from
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Men and women are affected in equal number, reflecting the fact that osteopoikilosis attacks indiscriminately. Additionally, the disease is often associated with
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Nevin NC, Thomas PS, Davis RI, Cowie GH (1999). "Melorheostosis in a family with autosomal dominant osteopoikilosis".
922: 1871: 1852: 1769: 967: 1043: 1028: 158:, despite the apparent lack of correlation between melorheostosis and genetic heritability. It has been tied to 1933: 1928: 1826: 1650: 1401: 568: 409:"Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke–Ollendorff syndrome and melorheostosis" 1708: 1228: 1965: 1907: 1512: 1016: 953: 1618: 1576: 1175: 983: 904: 1365: 1223: 1180: 1033: 821: 699: 659: 651: 101: 1877: 188: 77: 243:"A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report" 55: 1339: 1072: 850: 788: 546: 329:
Serdaroğlu M, Capkin E, Uçüncü F, Tosun M (2007). "Case report of a patient with osteopoikilosis".
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The distribution is variable, though it does not tend to affect the ribs, spine, or skull.
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10.1002/(SICI)1096-8628(19990219)82:5<409::AID-AJMG10>3.0.CO;2-2
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Get through FRCR part 2B : rapid reporting of plain radiographs
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List of radiographic findings associated with cutaneous conditions
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Hellemans J, Preobrazhenska O, Willaert A, et al. (2004).
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Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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Microcephalic osteodysplastic primordial dwarfism type II
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is a similar condition, which is also associated with
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Formation of hard nodules within the interior of bones
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Epidermolysis bullosa simplex with muscular dystrophy
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The radiographic appearance of osteopoikilosis on an
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London: Royal Society of Medicine. 7: 1572:Desmin-related myofibrillar myopathy 1209:Hypertrophic cardiomyopathy 1, 8, 10 1052:Rhizomelic chondrodysplasia punctata 1664:Emery–Dreifuss muscular dystrophy 2 738:Otospondylomegaepiphyseal dysplasia 710:Schmid metaphyseal chondrodysplasia 1929:Striate palmoplantar keratoderma 2 1624:Charcot–Marie–Tooth disease 1F, 2E 1402:Striate palmoplantar keratoderma 3 182:Osteopoikilosis of the hips on CT. 14: 1780:Asphyxiating thoracic dysplasia 3 1669:Limb-girdle muscular dystrophy 1B 290:Balan, Nisha Sharma, Anu (2008). 1775:Short rib-polydactyly syndrome 3 1752:Hereditary spastic paraplegia 10 1247:Hypertrophic cardiomyopathy 7, 2 1078:Short rib – polydactyly syndrome 210:in a person with osteopoikilosis 199: 187: 175: 118: 1674:Charcot–Marie–Tooth disease 2B1 1083:Majewski's polydactyly syndrome 1883:Familial adenomatous polyposis 1837:Hereditary elliptocytosis 2, 3 1747:Charcot–Marie–Tooth disease 2A 1659:Familial partial lipodystrophy 1171:Hypertrophic cardiomyopathy 11 1: 1832:Hereditary spherocytosis 2, 3 1801:Cavernous venous malformation 1629:Amyotrophic lateral sclerosis 1599:Amyotrophic lateral sclerosis 1503:Epidermolysis bullosa simplex 1453:Epidermolysis bullosa simplex 1423:Ichthyosis bullosa of Siemens 1293:Hypertrophic cardiomyopathy 9 1270:Hypertrophic cardiomyopathy 3 857:Hereditary multiple exostoses 801:Polyostotic fibrous dysplasia 733:Multiple epiphyseal dysplasia 1473:Epidermolytic hyperkeratosis 1407:Epidermolytic hyperkeratosis 1090:LĂ©ri–Weill dyschondrosteosis 1694:Buschke–Ollendorff syndrome 164:Buschke–Ollendorff syndrome 2038: 1853:Hereditary spherocytosis 1 1770:Primary ciliary dyskinesia 1176:Dilated cardiomyopathy 1AA 1057:Conradi–HĂĽnermann syndrome 682:Camurati–Engelmann disease 1997: 1684:Barraquer–Simons syndrome 1577:Dilated cardiomyopathy 1I 1323:Weill–Marchesani syndrome 1044:Chondrodysplasia punctata 1029:Atelosteogenesis, type II 343:10.1007/s00296-006-0262-9 38: 29: 1827:Spinocerebellar ataxia 5 1651:Mandibuloacral dysplasia 1219:Freeman–Sheldon syndrome 806:McCune–Albright syndrome 1966:Skin fragility syndrome 1908:Giant axonal neuropathy 1513:Steatocystoma multiplex 954:Thanatophoric dysplasia 259:10.1136/emj.2006.045765 1252:Nemaline myopathy 4, 5 923:Antley–Bixler syndrome 905:Growth factor receptor 652:Osteochondrodysplasias 127:This section is empty. 2002:Cytoskeletal proteins 1034:Diastrophic dysplasia 700:Metaphyseal dysplasia 2022:Cytoskeletal defects 1709:Pelger–Huet anomaly 1619:Parkinson's disease 1340:Boomerang dysplasia 1275:Nemaline myopathy 1 1229:May–Hegglin anomaly 1186:Nemaline myopathy 3 1073:Fibrochondrogenesis 851:osteochondromatosis 789:Boomerang dysplasia 479:10.1359/jbmr.061102 1878:Gardner's syndrome 1847:Long QT syndrome 4 1523:Familial cirrhosis 1493:White sponge nevus 1463:Familial cirrhosis 1443:White sponge nevus 991:Hypochondrogenesis 595:External resources 467:J. Bone Miner. Res 102:blastic metastasis 74:autosomal dominant 2009: 2008: 1934:Carvajal syndrome 1809: 1808: 1724: 1723: 1588:Alexander disease 1360: 1359: 1301: 1300: 1214:Usher syndrome 1B 1204:Elejalde syndrome 1102: 1101: 1098: 1097: 962: 961: 947:Hypochondroplasia 893:Maffucci syndrome 816: 815: 618: 617: 374:Am. J. Med. Genet 147: 146: 88:in the skeleton. 63: 62: 19:Medical condition 2029: 2000:Related topics: 1735: 1371: 1159: 1150: 1129: 1122: 1115: 1106: 1004:sulfation defect 971:collagen disease 910: 882:enchondromatosis 838: 827:chondrodystrophy 822:Chondrodysplasia 796:Opsismodysplasia 670: 645: 638: 631: 622: 511: 499: 498: 462: 456: 445: 439: 438: 428: 404: 398: 397: 369: 363: 362: 326: 320: 319: 313: 305: 287: 281: 280: 270: 238: 203: 191: 179: 142: 139: 129:You can help by 122: 115: 59: 58: 50:Medical genetics 34: 22: 2037: 2036: 2032: 2031: 2030: 2028: 2027: 2026: 2012: 2011: 2010: 2005: 1993: 1913: 1857: 1805: 1784: 1756: 1720: 1699:Osteopoikilosis 1633: 1603: 1556: 1356: 1345:Larsen syndrome 1318:Marfan syndrome 1297: 1279: 1256: 1233: 1190: 1139: 1133: 1103: 1094: 1061: 1038: 1012:Achondrogenesis 995: 979:Achondrogenesis 958: 927: 899: 863: 829: 825: 812: 775:Other/ungrouped 770: 761:Osteopoikilosis 742: 714: 686: 663: 654: 649: 619: 614: 613: 590: 589: 522: 508: 503: 502: 464: 463: 459: 446: 442: 406: 405: 401: 371: 370: 366: 328: 327: 323: 306: 302: 289: 288: 284: 240: 239: 235: 230: 218: 211: 204: 195: 194:Osteopoikilosis 192: 183: 180: 152: 143: 137: 134: 113: 94: 66:Osteopoikilosis 53: 25:Osteopoikilosis 20: 17: 12: 11: 5: 2035: 2033: 2025: 2024: 2014: 2013: 2007: 2006: 1998: 1995: 1994: 1992: 1991: 1974: 1973: 1968: 1958: 1957: 1952: 1942: 1941: 1936: 1931: 1921: 1919: 1915: 1914: 1912: 1911: 1899: 1896:Naxos syndrome 1887: 1886: 1885: 1880: 1867: 1865: 1859: 1858: 1856: 1855: 1840: 1839: 1834: 1829: 1819: 1817: 1811: 1810: 1807: 1806: 1804: 1803: 1798: 1792: 1790: 1786: 1785: 1783: 1782: 1777: 1772: 1766: 1764: 1758: 1757: 1755: 1754: 1749: 1743: 1741: 1732: 1726: 1725: 1722: 1721: 1719: 1718: 1717: 1716: 1711: 1703: 1702: 1701: 1696: 1688: 1687: 1686: 1678: 1677: 1676: 1671: 1666: 1661: 1653: 1641: 1639: 1635: 1634: 1632: 1631: 1626: 1621: 1611: 1609: 1605: 1604: 1602: 1601: 1591: 1590: 1580: 1579: 1574: 1564: 1562: 1558: 1557: 1555: 1554: 1549: 1544: 1526: 1516: 1506: 1496: 1486: 1476: 1466: 1456: 1446: 1436: 1426: 1416: 1415: 1414: 1409: 1404: 1393:hyperkeratosis 1377: 1375: 1368: 1362: 1361: 1358: 1357: 1355: 1354: 1353: 1352: 1347: 1342: 1337: 1327: 1326: 1325: 1320: 1309: 1307: 1303: 1302: 1299: 1298: 1296: 1295: 1289: 1287: 1281: 1280: 1278: 1277: 1272: 1266: 1264: 1258: 1257: 1255: 1254: 1249: 1243: 1241: 1235: 1234: 1232: 1231: 1226: 1221: 1216: 1211: 1206: 1200: 1198: 1192: 1191: 1189: 1188: 1183: 1178: 1173: 1167: 1165: 1156: 1147: 1145:Microfilaments 1141: 1140: 1134: 1132: 1131: 1124: 1117: 1109: 1100: 1099: 1096: 1095: 1093: 1092: 1087: 1086: 1085: 1075: 1069: 1067: 1066:Other dwarfism 1063: 1062: 1060: 1059: 1054: 1048: 1046: 1040: 1039: 1037: 1036: 1031: 1026: 1021: 1020: 1019: 1008: 1006: 997: 996: 994: 993: 988: 987: 986: 975: 973: 964: 963: 960: 959: 957: 956: 951: 950: 949: 942:Achondroplasia 938: 936: 929: 928: 926: 925: 919: 917: 907: 901: 900: 898: 897: 896: 895: 890: 888:Ollier disease 877: 875: 865: 864: 862: 861: 860: 859: 846: 844: 842:Osteochondroma 835: 818: 817: 814: 813: 811: 810: 809: 808: 798: 793: 792: 791: 778: 776: 772: 771: 769: 768: 763: 758: 756:Raine syndrome 752: 750: 748:Osteosclerosis 744: 743: 741: 740: 735: 730: 724: 722: 716: 715: 713: 712: 707: 702: 696: 694: 688: 687: 685: 684: 678: 676: 667: 665:osteodystrophy 660:Osteodysplasia 656: 655: 650: 648: 647: 640: 633: 625: 616: 615: 612: 611: 599: 598: 596: 592: 591: 588: 587: 576: 565: 554: 539: 523: 518: 517: 515: 514:Classification 507: 506:External links 504: 501: 500: 457: 440: 426:10.1038/ng1453 419:(11): 1213–8. 399: 364: 331:Rheumatol. Int 321: 301:978-1853157547 300: 282: 232: 231: 229: 226: 225: 224: 217: 214: 213: 212: 205: 198: 196: 193: 186: 184: 181: 174: 156:melorheostosis 151: 148: 145: 144: 138:September 2021 125: 123: 112: 109: 93: 90: 61: 60: 47: 41: 40: 36: 35: 27: 26: 18: 15: 13: 10: 9: 6: 4: 3: 2: 2034: 2023: 2020: 2019: 2017: 2004: 2003: 1996: 1989: 1985: 1984: 1979: 1976: 1975: 1972: 1969: 1967: 1963: 1960: 1959: 1956: 1953: 1951: 1947: 1944: 1943: 1940: 1937: 1935: 1932: 1930: 1926: 1923: 1922: 1920: 1916: 1909: 1905: 1904: 1900: 1897: 1893: 1892: 1888: 1884: 1881: 1879: 1876: 1875: 1874: 1873: 1869: 1868: 1866: 1864: 1860: 1854: 1851: 1850: 1849: 1848: 1844: 1838: 1835: 1833: 1830: 1828: 1824: 1821: 1820: 1818: 1816: 1812: 1802: 1799: 1797: 1794: 1793: 1791: 1787: 1781: 1778: 1776: 1773: 1771: 1768: 1767: 1765: 1763: 1759: 1753: 1750: 1748: 1745: 1744: 1742: 1740: 1736: 1733: 1731: 1727: 1715: 1712: 1710: 1707: 1706: 1704: 1700: 1697: 1695: 1692: 1691: 1689: 1685: 1682: 1681: 1679: 1675: 1672: 1670: 1667: 1665: 1662: 1660: 1657: 1654: 1652: 1649: 1648: 1646: 1643: 1642: 1640: 1636: 1630: 1627: 1625: 1622: 1620: 1616: 1615:Neurofilament 1613: 1612: 1610: 1606: 1600: 1596: 1593: 1592: 1589: 1585: 1582: 1581: 1578: 1575: 1573: 1569: 1566: 1565: 1563: 1559: 1553: 1550: 1548: 1545: 1542: 1538: 1534: 1530: 1527: 1524: 1520: 1517: 1514: 1510: 1507: 1504: 1500: 1497: 1494: 1490: 1487: 1484: 1480: 1477: 1474: 1470: 1467: 1464: 1460: 1457: 1454: 1450: 1447: 1444: 1440: 1437: 1434: 1430: 1427: 1424: 1420: 1417: 1413: 1410: 1408: 1405: 1403: 1400: 1399: 1398: 1394: 1390: 1386: 1382: 1381:Keratinopathy 1379: 1378: 1376: 1372: 1369: 1367: 1363: 1351: 1348: 1346: 1343: 1341: 1338: 1336: 1335:FG syndrome 2 1333: 1332: 1331: 1328: 1324: 1321: 1319: 1316: 1315: 1314: 1311: 1310: 1308: 1304: 1294: 1291: 1290: 1288: 1286: 1282: 1276: 1273: 1271: 1268: 1267: 1265: 1263: 1259: 1253: 1250: 1248: 1245: 1244: 1242: 1240: 1236: 1230: 1227: 1225: 1222: 1220: 1217: 1215: 1212: 1210: 1207: 1205: 1202: 1201: 1199: 1197: 1193: 1187: 1184: 1182: 1179: 1177: 1174: 1172: 1169: 1168: 1166: 1164: 1160: 1157: 1155: 1151: 1148: 1146: 1142: 1137: 1130: 1125: 1123: 1118: 1116: 1111: 1110: 1107: 1091: 1088: 1084: 1081: 1080: 1079: 1076: 1074: 1071: 1070: 1068: 1064: 1058: 1055: 1053: 1050: 1049: 1047: 1045: 1041: 1035: 1032: 1030: 1027: 1025: 1022: 1018: 1015: 1014: 1013: 1010: 1009: 1007: 1005: 1002: 998: 992: 989: 985: 982: 981: 980: 977: 976: 974: 972: 969: 965: 955: 952: 948: 945: 944: 943: 940: 939: 937: 934: 930: 924: 921: 920: 918: 915: 911: 908: 906: 902: 894: 891: 889: 886: 885: 884: 883: 879: 878: 876: 874: 870: 866: 858: 855: 854: 853: 852: 848: 847: 845: 843: 839: 836: 833: 828: 823: 819: 807: 804: 803: 802: 799: 797: 794: 790: 787: 786: 785: 784: 780: 779: 777: 773: 767: 766:Osteopetrosis 764: 762: 759: 757: 754: 753: 751: 749: 745: 739: 736: 734: 731: 729: 726: 725: 723: 721: 717: 711: 708: 706: 703: 701: 698: 697: 695: 693: 689: 683: 680: 679: 677: 675: 671: 668: 666: 661: 657: 653: 646: 641: 639: 634: 632: 627: 626: 623: 610: 606: 605: 601: 600: 597: 593: 586: 582: 581: 577: 575: 571: 570: 566: 564: 560: 559: 555: 553: 549: 548: 544: 540: 538: 534: 533: 529: 525: 524: 521: 516: 512: 505: 496: 492: 488: 484: 480: 476: 473:(2): 243–50. 472: 468: 461: 458: 455: 454:Who Named It? 451: 450: 444: 441: 436: 432: 427: 422: 418: 414: 410: 403: 400: 395: 391: 387: 383: 380:(5): 409–14. 379: 375: 368: 365: 360: 356: 352: 348: 344: 340: 336: 332: 325: 322: 317: 311: 303: 297: 293: 286: 283: 278: 274: 269: 264: 260: 256: 252: 248: 244: 237: 234: 227: 223: 220: 219: 215: 209: 202: 197: 190: 185: 178: 173: 171: 169: 165: 161: 157: 149: 141: 132: 128: 124: 121: 117: 116: 110: 108: 105: 103: 99: 91: 89: 87: 83: 79: 75: 71: 67: 57: 51: 48: 46: 42: 37: 33: 28: 23: 1999: 1981: 1901: 1889: 1870: 1841: 1730:Microtubules 1698: 1136:Cytoskeletal 880: 849: 781: 760: 602: 578: 567: 556: 541: 526: 470: 466: 460: 447: 443: 416: 412: 402: 377: 373: 367: 337:(7): 683–6. 334: 330: 324: 291: 285: 250: 246: 236: 153: 150:Epidemiology 135: 131:adding to it 126: 106: 95: 92:Presentation 86:bone islands 80:(hardening) 65: 64: 1962:plakophilin 1925:desmoplakin 1891:plakoglobin 1645:Laminopathy 1541:Monilethrix 1389:keratoderma 1262:Tropomyosin 1154:Myofilament 873:enchondroma 830:(including 247:Emerg Med J 1978:centrosome 1595:Peripherin 692:Metaphysis 580:DiseasesDB 413:Nat. Genet 253:(5): e29. 228:References 78:sclerosing 1796:Tauopathy 1385:keratosis 1313:Fibrillin 869:Chondroma 720:Epiphysis 674:Diaphysis 604:eMedicine 449:synd/1803 310:cite book 208:bone scan 82:dysplasia 45:Specialty 2016:Category 1823:Spectrin 1815:Membrane 1656:Dunnigan 1239:Troponin 832:dwarfism 609:derm/733 495:28338454 487:17087626 435:15489854 394:10069713 359:20299738 351:17106662 277:17452689 216:See also 1946:plectin 1863:Catenin 1843:Ankyrin 1739:Kinesin 1647:: LMNA 1330:Filamin 1138:defects 1017:type 1B 1001:SLC26A2 574:D010023 268:2658513 206:Normal 1762:Dynein 1690:LEMD3 1568:Desmin 1196:Myosin 1181:DFNA20 984:type 2 968:COL2A1 563:166700 552:756.53 493:  485:  433:  392:  357:  349:  298:  275:  265:  70:benign 52:  1918:Other 1789:Other 1680:LMNB 1537:KRT86 1533:KRT83 1529:KRT81 1519:KRT18 1509:KRT17 1499:KRT14 1489:KRT13 1479:KRT12 1469:KRT10 1419:KRT2E 1306:Other 1285:Titin 1163:Actin 933:FGFR3 914:FGFR2 585:30071 537:Q78.8 491:S2CID 355:S2CID 168:LEMD3 160:LEMD3 111:Cause 98:X-ray 68:is a 1983:PCNT 1705:LBR 1584:GFAP 1459:KRT8 1449:KRT5 1439:KRT4 1429:KRT3 1412:IHCM 1397:KRT1 783:FLNB 569:MeSH 558:OMIM 547:9-CM 483:PMID 431:PMID 390:PMID 347:PMID 316:link 296:ISBN 273:PMID 1903:GAN 1872:APC 1395:): 1374:1/2 543:ICD 528:ICD 475:doi 452:at 421:doi 382:doi 339:doi 263:PMC 255:doi 133:. 2018:: 1980:: 1964:: 1948:: 1927:: 1845:: 1825:: 1617:: 1597:: 1586:: 1570:: 1391:, 1387:, 1366:IF 607:: 583:: 572:: 561:: 550:: 535:: 532:10 489:. 481:. 471:22 469:. 429:. 417:36 415:. 411:. 388:. 378:82 376:. 353:. 345:. 335:27 333:. 312:}} 308:{{ 271:. 261:. 251:24 249:. 245:. 170:. 162:. 76:, 72:, 1990:) 1986:( 1910:) 1906:( 1898:) 1894:( 1638:5 1608:4 1561:3 1543:) 1539:( 1535:/ 1531:/ 1525:) 1521:( 1515:) 1511:( 1505:) 1501:( 1495:) 1491:( 1485:) 1481:( 1475:) 1471:( 1465:) 1461:( 1455:) 1451:( 1445:) 1441:( 1435:) 1431:( 1425:) 1421:( 1383:( 1128:e 1121:t 1114:v 935:: 916:: 871:/ 834:) 824:/ 662:/ 644:e 637:t 630:v 545:- 530:- 520:D 497:. 477:: 437:. 423:: 396:. 384:: 361:. 341:: 318:) 304:. 279:. 257:: 140:) 136:(

Index


Specialty
Medical genetics
Edit this on Wikidata
benign
autosomal dominant
sclerosing
dysplasia
bone islands
X-ray
blastic metastasis

adding to it
melorheostosis
LEMD3
Buschke–Ollendorff syndrome
LEMD3
Osteopoikilosis of the hips on CT.
Osteopoikilosis
Normal bone scan in a person with osteopoikilosis
bone scan
List of radiographic findings associated with cutaneous conditions
"A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report"
doi
10.1136/emj.2006.045765
PMC
2658513
PMID
17452689
ISBN

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