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Juvenile hyaline fibromatosis

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Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A (2018) Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. Hum Mutat doi: 10.1002/humu.23638
440: 515: 124:. The World Health Organization in 2020 reclassified the papules and nodules that occur in juvenile hyaline fibromatosis as one of the specific benign types of tumors in the category of 1050: 1070: 256: 508: 201:
Argentinian Matías Fernández Burzaco, aged 23, published a book about his experience of the condition, “Formas Propias”. He has also performed as a rap artist.
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This condition is characterised by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular and systemic involvement.
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WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours
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Clinical features include extreme pain at minimal handling in a newborn,
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Autosomal recessive pattern is the inheritance manner of this condition
159:) gene. This gene is also known as capillary morphogenesis protein-2. 850: 750: 742: 444: 156: 101: 94: 155:
This condition is due to mutations in the anthrax toxin receptor-2 (
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There is no presently known curative treatment for this condition.
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Prognosis is very poor with a median age at death of 15 months.
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Multiple cutaneous and uterine leiomyomatosis syndrome
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Davis, J. L. (2020). "Juvenile hyaline fibromatosis".
422: 1146: 1083: 974: 950: 928: 919: 841: 813: 785: 741: 700: 613: 586: 577: 568: 542: 467: 426: 48: 26: 21: 319:Sbaraglia M, Bellan E, Dei Tos AP (April 2021). 509: 299:Fitzpatrick's Dermatology in General Medicine 8: 89:in capillary morphogenesis protein-2 (CMG-2 255:: CS1 maint: numeric names: authors list ( 925: 583: 574: 516: 502: 494: 423: 268: 266: 65:fibromatosis hyalinica multiplex juvenilis 35: 18: 344: 232:"Orphanet: Juvenile hyaline fibromatosis" 193:84 cases have been reported as of 2018. 162:This gene is located on the long arm of 120:, which may be confused clinically with 222: 126:fibroblastic and myofibroblastic tumors 248: 7: 301:. (6th ed.). Page 989. McGraw-Hill. 230:RESERVED, INSERM US14-- ALL RIGHTS. 555:Desmoplastic small-round-cell tumor 14: 632:Aggressive infantile fibromatosis 1123:Clear-cell sarcoma of the kidney 69:Murray–Puretic–Drescher syndrome 1182:Dermal and subcutaneous growths 891:Intradermal spindle cell lipoma 600:Dermatofibrosarcoma protuberans 719:Malignant fibrous histiocytoma 667:Infantile digital fibromatosis 652:Familial myxovascular fibromas 647:Diffuse infantile fibromatosis 1: 765:Superficial acral fibromyxoma 672:Juvenile hyaline fibromatosis 61:Juvenile hyaline fibromatosis 22:Juvenile hyaline fibromatosis 1066:Solitary cutaneous leiomyoma 1056:Multiple cutaneous leiomyoma 777:Ossifying fibromyxoid tumour 211:List of cutaneous conditions 714:Benign fibrous histiocytoma 1203: 994:Embryonal rhabdomyosarcoma 570:Connective tissue neoplasm 297:Freedberg, et al. (2003). 177:Management is supportive. 1118:Malignant rhabdoid tumour 1085:Complex mixed and stromal 1014: 1006:Alveolar rhabdomyosarcoma 408:"BBC News - Out of Shape" 275:Dermatology: 2-Volume Set 43: 34: 657:Fibroma of tendon sheath 687:Oral submucous fibrosis 627:Aggressive fibromatosis 543:Not otherwise specified 729:Solitary fibrous tumor 724:Atypical fibroxanthoma 337:10.32074/1591-951X-213 1103:Mixed MĂĽllerian tumor 1108:Mesoblastic nephroma 677:Plantar fibromatosis 605:Desmoplastic fibroma 277:. St. Louis: Mosby. 141:gingival hypertrophy 1098:Pleomorphic adenoma 906:Spindle cell lipoma 706:histiocytic sarcoma 682:Pleomorphic fibroma 642:Collagenous fibroma 637:Aponeurotic fibroma 550:Soft-tissue sarcoma 1061:Neural fibrolipoma 1036:Angiolipoleiomyoma 999:Sarcoma botryoides 896:Pleomorphic lipoma 865:Myxoid liposarcoma 829:Clear-cell sarcoma 662:Fibromatosis colli 468:External resources 1169: 1168: 1161:Adenomatoid tumor 1133:Pancreatoblastoma 1079: 1078: 1041:Genital leiomyoma 901:Lipoblastomatosis 837: 836: 737: 736: 692:Pachydermodactyly 491: 490: 284:978-1-4160-2999-1 122:neurofibromatosis 58: 57: 16:Medical condition 1194: 990:rhabdomyosarcoma 979: 955: 931: 926: 886:Chondroid lipoma 824:Synovial sarcoma 760:Cutaneous myxoma 584: 575: 518: 511: 504: 495: 424: 412: 411: 404: 398: 397: 390: 384: 380: 374: 373: 365: 359: 358: 348: 316: 310: 295: 289: 288: 270: 261: 260: 254: 246: 244: 242: 227: 39: 30:Puretic syndrome 19: 1202: 1201: 1197: 1196: 1195: 1193: 1192: 1191: 1172: 1171: 1170: 1165: 1142: 1075: 1010: 977:Skeletal muscle 975: 970: 951: 946: 929: 915: 833: 809: 805:Phyllodes tumor 787:Fibroepithelial 781: 733: 696: 609: 564: 538: 522: 492: 487: 486: 463: 462: 435: 421: 416: 415: 406: 405: 401: 392: 391: 387: 381: 377: 367: 366: 362: 318: 317: 313: 296: 292: 285: 272: 271: 264: 247: 240: 238: 229: 228: 224: 219: 207: 199: 191: 183: 172: 153: 134: 63:(also known as 17: 12: 11: 5: 1200: 1198: 1190: 1189: 1184: 1174: 1173: 1167: 1166: 1164: 1163: 1158: 1152: 1150: 1144: 1143: 1141: 1140: 1138:Carcinosarcoma 1135: 1130: 1128:Hepatoblastoma 1125: 1120: 1115: 1110: 1105: 1100: 1095: 1089: 1087: 1081: 1080: 1077: 1076: 1074: 1073: 1068: 1063: 1058: 1053: 1048: 1046:Leiomyosarcoma 1043: 1038: 1033: 1031:Angioleiomyoma 1028: 1027: 1026: 1015: 1012: 1011: 1009: 1008: 1003: 1002: 1001: 982: 980: 972: 971: 969: 968: 966:leiomyosarcoma 958: 956: 948: 947: 945: 944: 934: 932: 923: 917: 916: 914: 913: 908: 903: 898: 893: 888: 882: 881: 880: 879: 877:Angiomyolipoma 869: 868: 867: 862: 847: 845: 839: 838: 835: 834: 832: 831: 826: 820: 818: 811: 810: 808: 807: 802: 797: 795:Brenner tumour 791: 789: 783: 782: 780: 779: 774: 769: 768: 767: 762: 747: 745: 739: 738: 735: 734: 732: 731: 726: 721: 716: 710: 708: 698: 697: 695: 694: 689: 684: 679: 674: 669: 664: 659: 654: 649: 644: 639: 634: 629: 623: 621: 611: 610: 608: 607: 602: 596: 594: 581: 572: 566: 565: 563: 562: 557: 552: 546: 544: 540: 539: 523: 521: 520: 513: 506: 498: 489: 488: 485: 484: 472: 471: 469: 465: 464: 461: 460: 449: 436: 431: 430: 428: 427:Classification 420: 419:External links 417: 414: 413: 399: 385: 375: 360: 311: 290: 283: 262: 221: 220: 218: 215: 214: 213: 206: 203: 198: 195: 190: 187: 182: 179: 171: 168: 152: 149: 133: 130: 56: 55: 52: 46: 45: 41: 40: 32: 31: 28: 24: 23: 15: 13: 10: 9: 6: 4: 3: 2: 1199: 1188: 1187:Rare diseases 1185: 1183: 1180: 1179: 1177: 1162: 1159: 1157: 1154: 1153: 1151: 1149: 1145: 1139: 1136: 1134: 1131: 1129: 1126: 1124: 1121: 1119: 1116: 1114: 1111: 1109: 1106: 1104: 1101: 1099: 1096: 1094: 1091: 1090: 1088: 1086: 1082: 1072: 1069: 1067: 1064: 1062: 1059: 1057: 1054: 1052: 1049: 1047: 1044: 1042: 1039: 1037: 1034: 1032: 1029: 1025: 1022: 1021: 1020: 1017: 1016: 1013: 1007: 1004: 1000: 997: 996: 995: 991: 987: 984: 983: 981: 978: 973: 967: 963: 960: 959: 957: 954: 953:Smooth muscle 949: 943: 939: 936: 935: 933: 927: 924: 922: 918: 912: 909: 907: 904: 902: 899: 897: 894: 892: 889: 887: 884: 883: 878: 875: 874: 873: 870: 866: 863: 861: 858: 857: 856: 852: 849: 848: 846: 844: 840: 830: 827: 825: 822: 821: 819: 816: 812: 806: 803: 801: 798: 796: 793: 792: 790: 788: 784: 778: 775: 773: 770: 766: 763: 761: 758: 757: 756: 752: 749: 748: 746: 744: 740: 730: 727: 725: 722: 720: 717: 715: 712: 711: 709: 707: 703: 699: 693: 690: 688: 685: 683: 680: 678: 675: 673: 670: 668: 665: 663: 660: 658: 655: 653: 650: 648: 645: 643: 640: 638: 635: 633: 630: 628: 625: 624: 622: 620: 616: 612: 606: 603: 601: 598: 597: 595: 593: 589: 585: 582: 580: 576: 573: 571: 567: 561: 558: 556: 553: 551: 548: 547: 545: 541: 537: 533: 530: 526: 519: 514: 512: 507: 505: 500: 499: 496: 483: 479: 478: 474: 473: 470: 466: 459: 455: 454: 450: 447: 446: 442: 438: 437: 434: 429: 425: 418: 409: 403: 400: 395: 389: 386: 379: 376: 371: 364: 361: 356: 352: 347: 342: 338: 334: 330: 326: 322: 315: 312: 308: 307:0-07-138076-0 304: 300: 294: 291: 286: 280: 276: 269: 267: 263: 258: 252: 237: 236:www.orpha.net 233: 226: 223: 216: 212: 209: 208: 204: 202: 197:Notable cases 196: 194: 188: 186: 180: 178: 175: 169: 167: 165: 160: 158: 150: 148: 146: 142: 137: 131: 129: 127: 123: 119: 115: 111: 107: 103: 100: 96: 92: 88: 84: 81: 78: 74: 70: 66: 62: 53: 51: 47: 42: 38: 33: 29: 25: 20: 1156:Mesothelioma 1113:Wilms' tumor 800:Fibroadenoma 702:Histiocytoma 671: 619:fibromatosis 592:fibrosarcoma 560:Skin sarcoma 475: 451: 439: 402: 388: 378: 369: 363: 331:(2): 70–84. 328: 324: 314: 298: 293: 274: 239:. Retrieved 235: 225: 200: 192: 189:Epidemiology 184: 176: 173: 164:chromosome 4 161: 154: 138: 135: 132:Presentation 99:subcutaneous 71:) is a very 68: 64: 60: 59: 1148:Mesothelial 986:Rhabdomyoma 860:Myelolipoma 855:liposarcoma 772:Angiomyxoma 755:myxosarcoma 579:Fibromatous 529:soft tissue 325:Pathologica 166:(4q21.21). 54:Dermatology 27:Other names 1176:Categories 1093:Adenomyoma 942:myosarcoma 843:Lipomatous 743:Myxomatous 525:Connective 217:References 170:Management 1024:Cutaneous 1019:Leiomyoma 962:Leiomyoma 921:Myomatous 911:Hibernoma 181:Prognosis 145:hypotonia 87:mutations 80:recessive 77:autosomal 50:Specialty 815:Synovial 536:sarcomas 477:Orphanet 355:33179614 251:cite web 241:28 April 205:See also 151:Genetics 930:General 615:Fibroma 588:Fibroma 448:: M72.8 346:8167394 108:on the 106:nodules 102:papules 85:due to 83:disease 872:PEComa 851:Lipoma 751:Myxoma 532:tumors 458:228600 353:  343:  305:  281:  157:ANTXR2 116:, and 95:dermal 1071:STUMP 938:Myoma 817:-like 114:scalp 534:and 482:2028 453:OMIM 351:PMID 303:ISBN 279:ISBN 257:link 243:2019 118:back 110:face 91:gene 73:rare 67:and 441:ICD 341:PMC 333:doi 329:113 128:. 104:or 97:or 1178:: 992:: 480:: 456:: 445:10 349:. 339:. 327:. 323:. 265:^ 253:}} 249:{{ 234:. 147:. 112:, 75:, 988:/ 964:/ 940:/ 853:/ 753:/ 704:/ 617:/ 590:/ 527:/ 517:e 510:t 503:v 443:- 433:D 410:. 396:. 357:. 335:: 309:. 287:. 259:) 245:.

Index


Specialty
rare
autosomal
recessive
disease
mutations
gene
dermal
subcutaneous
papules
nodules
face
scalp
back
neurofibromatosis
fibroblastic and myofibroblastic tumors
gingival hypertrophy
hypotonia
ANTXR2
chromosome 4
List of cutaneous conditions
"Orphanet: Juvenile hyaline fibromatosis"
cite web
link


ISBN
978-1-4160-2999-1
ISBN

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