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Buschke–Ollendorff syndrome

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A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262.
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Pope, V.; Dupuis, L.; Kannu, P.; Mendoza-Londono, R.; Sajic, D.; So, J.; Yoon, G.; Lara-Corrales, I. (2016). "Buschke-Ollendorff syndrome: a novel case series and systematic review".
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Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females. It is named for
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LEMD3 once mutated, causes a reduction of the protein, which in turn causes excess of the above two pathways.
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The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:
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The signs and symptoms of this condition are consistent with the following (possible complications include
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Helander, Martti Kormano, Ilmari Lindgren; with the collaboration of Inkeri; Lindgren, Ilmari (1999).
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Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:
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James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020).
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The diagnosis of this condition can be ascertained via several techniques one such method is
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Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene.
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In terms of the treatment of Buschke–Ollendorff syndrome, should the complication of
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Worman, Howard J.; Fong, Loren G.; Muchir, Antoine; Young, Stephen G. (July 2009).
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Hosen, Mohammad J.; Lamoen, Anouck; De Paepe, Anne; Vanakker, Olivier M. (2012).
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LEMD3 gene gives instructions for producing protein that controls signaling for
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Treatment for hearing loss may also require surgical intervention.
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Buschke–Ollendorff syndrome has an autosomal dominant pattern of
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Radiological findings in skin diseases and related conditions
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Genetic disorder involving small, painless lumps on the skin
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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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Dermatofibrosis Lenticularis (Buschke–Ollendorf Syndrome)
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Guzman, Anthony K.; James, William D. (September 2016).
583:(13th ed.). Edinburgh: Elsevier. pp. 614–615. 1921:
Epidermolysis bullosa simplex with muscular dystrophy
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Microscope with stained slide (histological specimen)
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Andrews' Diseases of the Skin: Clinical Dermatology
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Conditions that may appear similar include 1321:Terminal osseous dysplasia with pigmentary defects 119:that typically presents with widespread painless 2813: 892: 773: 668: 666: 536: 1454:Meesmann juvenile epithelial corneal dystrophy 1404:Meesmann juvenile epithelial corneal dystrophy 1998: 1091: 1942:Arrhythmogenic right ventricular dysplasia 9 1910:Arrhythmogenic right ventricular dysplasia 8 926:: CS1 maint: multiple names: authors list ( 663: 610:International Journal of Women's Dermatology 414: 412: 410: 408: 406: 1523:Reticular pigmented anomaly of the flexures 603: 513:: CS1 maint: numeric names: authors list ( 2287:Reproductive endocrinology and infertility 2005: 1991: 1098: 1084: 425:Harper's Textbook of Pediatric Dermatology 98:Surgery for hearing loss(or complications) 40: 2628:Bachelor of Medicine, Bachelor of Surgery 833:Creative Commons Attribution 3.0 Unported 815: 797: 731: 637: 597: 568: 403: 345: 282:Both of the above pathways help grow new 1518:Naegeli–Franceschetti–Jadassohn syndrome 1105: 314: 306: 247: 167: 34:Dermatofibrosis lenticularis disseminata 490:"Orphanet: Buschke Ollendorff syndrome" 427:. John Wiley & Sons. p. 1139. 2814: 532: 530: 528: 526: 524: 483: 481: 479: 418: 1986: 1926:Epidermolysis bullosa simplex of Ogna 1195:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 1079: 754: 704:The Journal of Clinical Investigation 672: 488:RESERVED, INSERM US14 -- ALL RIGHTS. 448: 446: 444: 163: 2766: 2527:Physical medicine and rehabilitation 1543:Desmin-related myofibrillar myopathy 1180:Hypertrophic cardiomyopathy 1, 8, 10 577:"28. Dermal and subcutaneous tumors" 487: 379:occur then surgery may be required. 2776: 1635:Emery–Dreifuss muscular dystrophy 2 560:Online Mendelian Inheritance in Man 553: 521: 476: 13: 2663:Medical Scientist Training Program 1900:Striate palmoplantar keratoderma 2 1595:Charcot–Marie–Tooth disease 1F, 2E 1373:Striate palmoplantar keratoderma 3 850:The British Journal of Dermatology 841: 441: 14: 2853: 1751:Asphyxiating thoracic dysplasia 3 1640:Limb-girdle muscular dystrophy 1B 935: 257:LEMD3 (protein) referred also as 2795: 2785: 2775: 2765: 2756: 2755: 1746:Short rib-polydactyly syndrome 3 1723:Hereditary spastic paraplegia 10 1218:Hypertrophic cardiomyopathy 7, 2 1049: 941: 419:Lacour, Marc (4 December 2019). 288:BMP and TGF-β pathways controls 2832:Dermal and subcutaneous growths 2796: 1645:Charcot–Marie–Tooth disease 2B1 748: 691: 537:Lukasz Matusiak (2 July 2008), 270:transforming growth factor-beta 237: 2653:Doctor of Osteopathic Medicine 2087:Oral and maxillofacial surgery 1854:Familial adenomatous polyposis 1808:Hereditary elliptocytosis 2, 3 1718:Charcot–Marie–Tooth disease 2A 1630:Familial partial lipodystrophy 1142:Hypertrophic cardiomyopathy 11 654: 1: 1803:Hereditary spherocytosis 2, 3 1772:Cavernous venous malformation 1600:Amyotrophic lateral sclerosis 1570:Amyotrophic lateral sclerosis 1474:Epidermolysis bullosa simplex 1424:Epidermolysis bullosa simplex 1394:Ichthyosis bullosa of Siemens 1264:Hypertrophic cardiomyopathy 9 1241:Hypertrophic cardiomyopathy 3 675:"Buschke-Ollendorff syndrome" 397: 261:, is an important protein in 2822:Autosomal dominant disorders 2633:Bachelor of Medical Sciences 2400:Neurosurgical anesthesiology 2012: 1444:Epidermolytic hyperkeratosis 1378:Epidermolytic hyperkeratosis 392:List of cutaneous conditions 370: 302: 74:Mutations in the LEMD3 gene. 7: 1665:Buschke–Ollendorff syndrome 1067:Buschke–Ollendorff syndrome 948:Buschke–Ollendorff syndrome 385: 105:Buschke–Ollendorff syndrome 10: 2858: 1824:Hereditary spherocytosis 1 1741:Primary ciliary dyskinesia 1147:Dilated cardiomyopathy 1AA 755:Reference, Genetics Home. 673:Reference, Genetics Home. 622:10.1016/j.ijwd.2016.06.002 2751: 2673: 2611: 2372: 2300: 2255: 2164: 2035: 2020: 1968: 1888: 1832: 1784: 1759: 1731: 1708: 1699: 1655:Barraquer–Simons syndrome 1608: 1578: 1548:Dilated cardiomyopathy 1I 1531: 1344: 1335: 1294:Weill–Marchesani syndrome 1276: 1254: 1231: 1208: 1165: 1132: 1123: 1114: 1020: 957: 458:rarediseases.info.nih.gov 94: 78: 70: 57: 48: 39: 29: 24: 2587:Transplantation medicine 2478:Clinical neurophysiology 2395:Obstetric anesthesiology 2315:Interventional radiology 2075:Digestive system surgery 1798:Spinocerebellar ataxia 5 1622:Mandibuloacral dysplasia 1190:Freeman–Sheldon syndrome 277:bone morphogenic protein 275:LEMD3 gene helps in the 139:pseudoxanthoma elasticum 2458:Intensive care medicine 2432:Mass gathering medicine 2277:Maternal–fetal medicine 1937:Skin fragility syndrome 1879:Giant axonal neuropathy 1484:Steatocystoma multiplex 761:Genetics Home Reference 679:Genetics Home Reference 158:Helene Ollendorff Curth 25:Buschke–Ollendorff sign 2050:Cardiothoracic surgery 1223:Nemaline myopathy 4, 5 346:Differential diagnosis 320: 312: 263:inner nuclear membrane 253: 173: 126:It is inherited in an 2701:Personalized medicine 2560:Reproductive medicine 2485:Occupational medicine 2439:Evolutionary medicine 1973:Cytoskeletal proteins 899:. Stuttgart: Thieme. 319:Histopathology of BOS 318: 310: 292:, which then bind to 251: 171: 113:genetic skin disorder 2837:Cytoskeletal defects 2721:Traditional medicine 2681:Alternative medicine 2548:Addiction psychiatry 2362:Transfusion medicine 2357:Medical microbiology 2272:Gynecologic oncology 2124:Reproductive surgery 950:at Wikimedia Commons 2743:History of medicine 2726:Veterinary medicine 2533:Preventive medicine 2385:Adolescent medicine 2227:Infectious diseases 1680:Pelger–Huet anomaly 1590:Parkinson's disease 1311:Boomerang dysplasia 1246:Nemaline myopathy 1 1200:May–Hegglin anomaly 1157:Nemaline myopathy 3 799:10.6064/2012/598262 2691:Molecular oncology 2648:Doctor of Medicine 2638:Master of Medicine 2555:Radiation oncology 2427:Emergency medicine 2380:Addiction medicine 2347:Clinical chemistry 2342:Clinical pathology 2134:Transplant surgery 2092:Orthopedic surgery 2070:Colorectal surgery 1849:Gardner's syndrome 1818:Long QT syndrome 4 1494:Familial cirrhosis 1464:White sponge nevus 1434:Familial cirrhosis 1414:White sponge nevus 1021:External resources 321: 313: 254: 174: 164:Signs and symptoms 135:tuberous sclerosis 2809: 2808: 2643:Master of Surgery 2607: 2606: 2592:Tropical medicine 2538:Prison healthcare 2453:Hospital medicine 2417:Disaster medicine 2407:Aviation medicine 2222:Hospital medicine 2129:Surgical oncology 2114:Pediatric surgery 2108: 2055:Endocrine surgery 1980: 1979: 1905:Carvajal syndrome 1780: 1779: 1695: 1694: 1559:Alexander disease 1331: 1330: 1272: 1271: 1185:Usher syndrome 1B 1175:Elejalde syndrome 1044: 1043: 946:Media related to 862:10.1111/bjd.14366 590:978-0-323-54753-6 434:978-1-119-14280-5 341:Histological test 211:Connective tissue 102: 101: 80:Diagnostic method 19:Medical condition 2849: 2799: 2798: 2789: 2779: 2778: 2769: 2768: 2759: 2758: 2463:Medical genetics 2448:General practice 2325:Nuclear medicine 2200:Gastroenterology 2156:Vascular surgery 2106: 2033: 2032: 2007: 2000: 1993: 1984: 1983: 1971:Related topics: 1706: 1705: 1342: 1341: 1130: 1129: 1121: 1120: 1100: 1093: 1086: 1077: 1076: 1053: 1052: 955: 954: 945: 931: 925: 917: 915: 913: 889: 836: 829: 819: 801: 777: 771: 770: 768: 767: 752: 746: 745: 735: 716:10.1172/JCI37679 710:(7): 1825–1836. 695: 689: 688: 686: 685: 670: 661: 658: 652: 651: 641: 601: 595: 594: 572: 566: 557: 551: 550: 549: 548: 534: 519: 518: 512: 504: 502: 500: 485: 474: 473: 471: 469: 460:. Archived from 450: 439: 438: 416: 149:, among others. 115:associated with 44: 22: 21: 2857: 2856: 2852: 2851: 2850: 2848: 2847: 2846: 2812: 2811: 2810: 2805: 2747: 2736:Chief physician 2669: 2614: 2603: 2597:Travel medicine 2582:Sports medicine 2565:Sexual medicine 2505:Palliative care 2500:Pain management 2444:Family medicine 2422:Diving medicine 2368: 2296: 2258: 2251: 2167: 2160: 2119:Plastic surgery 2065:General surgery 2045:Cardiac surgery 2026: 2024: 2016: 2011: 1981: 1976: 1964: 1884: 1828: 1776: 1755: 1727: 1691: 1670:Osteopoikilosis 1604: 1574: 1527: 1327: 1316:Larsen syndrome 1289:Marfan syndrome 1268: 1250: 1227: 1204: 1161: 1110: 1104: 1074: 1073: 1072: 1054: 1050: 1045: 1040: 1039: 1016: 1015: 966: 938: 919: 918: 911: 909: 907: 844: 842:Further reading 839: 830: 778: 774: 765: 763: 753: 749: 696: 692: 683: 681: 671: 664: 659: 655: 602: 598: 591: 573: 569: 558: 554: 546: 544: 535: 522: 506: 505: 498: 496: 486: 477: 467: 465: 464:on 31 July 2018 452: 451: 442: 435: 417: 404: 400: 388: 377:aortic stenosis 373: 348: 325:genetic testing 305: 240: 203:Osteopoikilosis 178:aortic stenosis 172:Osteopoikilosis 166: 154:Abraham Buschke 20: 17: 12: 11: 5: 2855: 2845: 2844: 2842:Rare syndromes 2839: 2834: 2829: 2824: 2807: 2806: 2804: 2803: 2793: 2783: 2773: 2763: 2752: 2749: 2748: 2746: 2745: 2740: 2739: 2738: 2728: 2723: 2718: 2713: 2708: 2703: 2698: 2693: 2688: 2683: 2677: 2675: 2674:Related topics 2671: 2670: 2668: 2667: 2666: 2665: 2655: 2650: 2645: 2640: 2635: 2630: 2625: 2623:Medical school 2619: 2617: 2609: 2608: 2605: 2604: 2602: 2601: 2600: 2599: 2589: 2584: 2579: 2577:Sleep medicine 2574: 2573: 2572: 2562: 2557: 2552: 2551: 2550: 2540: 2535: 2530: 2524: 2519: 2518: 2517: 2507: 2502: 2497: 2492: 2487: 2482: 2481: 2480: 2470: 2465: 2460: 2455: 2450: 2441: 2436: 2435: 2434: 2424: 2419: 2414: 2409: 2404: 2403: 2402: 2397: 2390:Anesthesiology 2387: 2382: 2376: 2374: 2370: 2369: 2367: 2366: 2365: 2364: 2359: 2354: 2349: 2344: 2339: 2329: 2328: 2327: 2322: 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932: 905: 890: 856:(4): 723–729. 843: 840: 838: 837: 772: 747: 690: 662: 653: 616:(3): 108–112. 596: 589: 567: 552: 520: 475: 440: 433: 401: 399: 396: 395: 394: 387: 384: 372: 369: 368: 367: 357: 355:Melorheostosis 347: 344: 343: 342: 339: 334: 327:, as well as: 304: 301: 300: 299: 296: 290:SMADs proteins 286: 280: 273: 266: 239: 236: 235: 234: 233: 232: 231: 230: 229: 228: 227: 226: 225: 224: 223: 222: 221: 220: 214: 208: 205: 165: 162: 100: 99: 96: 92: 91: 82: 76: 75: 72: 68: 67: 61: 55: 54: 46: 45: 37: 36: 31: 27: 26: 18: 15: 9: 6: 4: 3: 2: 2854: 2843: 2840: 2838: 2835: 2833: 2830: 2828: 2825: 2823: 2820: 2819: 2817: 2802: 2794: 2792: 2788: 2784: 2782: 2774: 2772: 2764: 2762: 2754: 2753: 2750: 2744: 2741: 2737: 2734: 2733: 2732: 2729: 2727: 2724: 2722: 2719: 2717: 2714: 2712: 2709: 2707: 2706:Public health 2704: 2702: 2699: 2697: 2694: 2692: 2689: 2687: 2686:Allied health 2684: 2682: 2679: 2678: 2676: 2672: 2664: 2661: 2660: 2659: 2656: 2654: 2651: 2649: 2646: 2644: 2641: 2639: 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Index


inheritance
Symptoms
Papules
Diagnostic method
X-ray
ultrasound
genetic skin disorder
LEMD3
papules
autosomal
dominant
tuberous sclerosis
pseudoxanthoma elasticum
neurofibroma
lipoma
Abraham Buschke
Helene Ollendorff Curth

aortic stenosis
hearing loss
Osteopoikilosis
Connective tissue
Metaphysis

MAN1
inner nuclear membrane
transforming growth factor-beta
bone morphogenic protein
bone cells

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