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Reticular pigmented anomaly of the flexures

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1189: 57:) is a fibrous anomaly of the flexures or bending parts of the axillae, neck and inframammary/sternal areas. It is an autosomal-dominant pigmentary disorder that may appear in adolescence or adulthood. This condition is due to mutations in structural/desmosomal proteins found within stratified squamous epithelium. 80: 881: 1155: 1117: 1226: 517: 714: 650: 600: 294: 1245: 1138: 1106: 841: 831: 823: 1219: 1122: 160: 914: 791: 739: 244: 1250: 287: 1212: 947: 138: 1188: 942: 861: 751: 1169: 1050: 1004: 836: 826: 851: 490: 999: 968: 919: 796: 766: 670: 620: 590: 280: 386: 640: 574: 75: 460: 437: 414: 376: 338: 1039: 1020: 937: 1101: 1096: 994: 818: 569: 255: 876: 396: 1133: 1075: 680: 786: 744: 343: 533: 391: 348: 1045: 507: 1014: 690: 660: 630: 610: 579: 106:"Dowling-Degos disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" 755: 442: 419: 371: 353: 207: 156: 134: 35: 1196: 982: 197: 189: 866: 548: 512: 485: 105: 1063: 560: 381: 202: 177: 1239: 782: 312: 303: 260: 1129: 1092: 1058: 897: 812: 708: 556: 502: 429: 321: 178:"Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease" 85: 1145: 762: 686: 676: 666: 656: 646: 636: 586: 1070: 963: 626: 616: 606: 596: 564: 552: 480: 211: 990: 406: 236: 1113: 1030: 1010: 906: 497: 272: 929: 735: 363: 193: 704: 700: 696: 452: 330: 151:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Betz RC, Planko L, Eigelshoven S, et al. (March 2006).
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List of cutaneous conditions caused by mutations in keratins
882:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
1156:
Microcephalic osteodysplastic primordial dwarfism type II
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James, William; Berger, Timothy; Elston, Dirk (2005).
1118:
Epidermolysis bullosa simplex with muscular dystrophy
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Andrews' Diseases of the Skin: Clinical Dermatology
34: 26: 21: 518:Terminal osseous dysplasia with pigmentary defects 651:Meesmann juvenile epithelial corneal dystrophy 601:Meesmann juvenile epithelial corneal dystrophy 1220: 288: 8: 1139:Arrhythmogenic right ventricular dysplasia 9 1107:Arrhythmogenic right ventricular dysplasia 8 720:Reticular pigmented anomaly of the flexures 47:Reticular pigmented anomaly of the flexures 22:Reticular pigmented anomaly of the flexures 1227: 1213: 902: 538: 326: 317: 295: 281: 273: 227: 18: 201: 715:Naegeli–Franceschetti–Jadassohn syndrome 97: 1195:This cutaneous condition article is a 1123:Epidermolysis bullosa simplex of Ogna 392:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 7: 1185: 1183: 740:Desmin-related myofibrillar myopathy 377:Hypertrophic cardiomyopathy 1, 8, 10 60:Dark dot disease is associated with 30:Kitamura reticulate acropigmentation 832:Emery–Dreifuss muscular dystrophy 2 1246:Disturbances of human pigmentation 1199:. You can help Knowledge (XXG) by 1097:Striate palmoplantar keratoderma 2 792:Charcot–Marie–Tooth disease 1F, 2E 570:Striate palmoplantar keratoderma 3 14: 948:Asphyxiating thoracic dysplasia 3 837:Limb-girdle muscular dystrophy 1B 1187: 943:Short rib-polydactyly syndrome 3 920:Hereditary spastic paraplegia 10 415:Hypertrophic cardiomyopathy 7, 2 842:Charcot–Marie–Tooth disease 2B1 1051:Familial adenomatous polyposis 1005:Hereditary elliptocytosis 2, 3 915:Charcot–Marie–Tooth disease 2A 827:Familial partial lipodystrophy 339:Hypertrophic cardiomyopathy 11 1: 1000:Hereditary spherocytosis 2, 3 969:Cavernous venous malformation 797:Amyotrophic lateral sclerosis 767:Amyotrophic lateral sclerosis 671:Epidermolysis bullosa simplex 621:Epidermolysis bullosa simplex 591:Ichthyosis bullosa of Siemens 461:Hypertrophic cardiomyopathy 9 438:Hypertrophic cardiomyopathy 3 641:Epidermolytic hyperkeratosis 575:Epidermolytic hyperkeratosis 76:List of cutaneous conditions 862:Buschke–Ollendorff syndrome 1267: 1182: 1021:Hereditary spherocytosis 1 938:Primary ciliary dyskinesia 344:Dilated cardiomyopathy 1AA 1251:Cutaneous condition stubs 1165: 852:Barraquer–Simons syndrome 745:Dilated cardiomyopathy 1I 491:Weill–Marchesani syndrome 153:Dermatology: 2-Volume Set 110:rarediseases.info.nih.gov 995:Spinocerebellar ataxia 5 819:Mandibuloacral dysplasia 387:Freeman–Sheldon syndrome 133:. (10th ed.). Saunders. 1134:Skin fragility syndrome 1076:Giant axonal neuropathy 681:Steatocystoma multiplex 420:Nemaline myopathy 4, 5 1170:Cytoskeletal proteins 55:Dowling–Degos disease 155:. St. Louis: Mosby. 877:Pelger–Huet anomaly 787:Parkinson's disease 508:Boomerang dysplasia 443:Nemaline myopathy 1 397:May–Hegglin anomaly 354:Nemaline myopathy 3 1046:Gardner's syndrome 1015:Long QT syndrome 4 691:Familial cirrhosis 661:White sponge nevus 631:Familial cirrhosis 611:White sponge nevus 1208: 1207: 1177: 1176: 1102:Carvajal syndrome 977: 976: 892: 891: 756:Alexander disease 528: 527: 469: 468: 382:Usher syndrome 1B 372:Elejalde syndrome 270: 269: 182:Am. J. Hum. Genet 162:978-1-4160-2999-1 44: 43: 16:Medical condition 1258: 1229: 1222: 1215: 1191: 1184: 1168:Related topics: 903: 539: 327: 318: 297: 290: 283: 274: 228: 216: 215: 205: 173: 167: 166: 148: 142: 127: 121: 120: 118: 116: 102: 51:dark dot disease 19: 1266: 1265: 1261: 1260: 1259: 1257: 1256: 1255: 1236: 1235: 1234: 1233: 1180: 1178: 1173: 1161: 1081: 1025: 973: 952: 924: 888: 867:Osteopoikilosis 801: 771: 724: 524: 513:Larsen syndrome 486:Marfan syndrome 465: 447: 424: 401: 358: 307: 301: 271: 266: 265: 239: 225: 220: 219: 175: 174: 170: 163: 150: 149: 145: 128: 124: 114: 112: 104: 103: 99: 94: 72: 49:(also known as 17: 12: 11: 5: 1264: 1262: 1254: 1253: 1248: 1238: 1237: 1232: 1231: 1224: 1217: 1209: 1206: 1205: 1192: 1175: 1174: 1166: 1163: 1162: 1160: 1159: 1142: 1141: 1136: 1126: 1125: 1120: 1110: 1109: 1104: 1099: 1089: 1087: 1083: 1082: 1080: 1079: 1067: 1064:Naxos syndrome 1055: 1054: 1053: 1048: 1035: 1033: 1027: 1026: 1024: 1023: 1008: 1007: 1002: 997: 987: 985: 979: 978: 975: 974: 972: 971: 966: 960: 958: 954: 953: 951: 950: 945: 940: 934: 932: 926: 925: 923: 922: 917: 911: 909: 900: 894: 893: 890: 889: 887: 886: 885: 884: 879: 871: 870: 869: 864: 856: 855: 854: 846: 845: 844: 839: 834: 829: 821: 809: 807: 803: 802: 800: 799: 794: 789: 779: 777: 773: 772: 770: 769: 759: 758: 748: 747: 742: 732: 730: 726: 725: 723: 722: 717: 712: 694: 684: 674: 664: 654: 644: 634: 624: 614: 604: 594: 584: 583: 582: 577: 572: 561:hyperkeratosis 545: 543: 536: 530: 529: 526: 525: 523: 522: 521: 520: 515: 510: 505: 495: 494: 493: 488: 477: 475: 471: 470: 467: 466: 464: 463: 457: 455: 449: 448: 446: 445: 440: 434: 432: 426: 425: 423: 422: 417: 411: 409: 403: 402: 400: 399: 394: 389: 384: 379: 374: 368: 366: 360: 359: 357: 356: 351: 346: 341: 335: 333: 324: 315: 313:Microfilaments 309: 308: 302: 300: 299: 292: 285: 277: 268: 267: 264: 263: 252: 240: 235: 234: 232: 231:Classification 224: 223:External links 221: 218: 217: 194:10.1086/500850 168: 161: 143: 122: 96: 95: 93: 90: 89: 88: 83: 78: 71: 68: 42: 41: 38: 32: 31: 28: 24: 23: 15: 13: 10: 9: 6: 4: 3: 2: 1263: 1252: 1249: 1247: 1244: 1243: 1241: 1230: 1225: 1223: 1218: 1216: 1211: 1210: 1204: 1202: 1198: 1193: 1190: 1186: 1181: 1172: 1171: 1164: 1157: 1153: 1152: 1147: 1144: 1143: 1140: 1137: 1135: 1131: 1128: 1127: 1124: 1121: 1119: 1115: 1112: 1111: 1108: 1105: 1103: 1100: 1098: 1094: 1091: 1090: 1088: 1084: 1077: 1073: 1072: 1068: 1065: 1061: 1060: 1056: 1052: 1049: 1047: 1044: 1043: 1042: 1041: 1037: 1036: 1034: 1032: 1028: 1022: 1019: 1018: 1017: 1016: 1012: 1006: 1003: 1001: 998: 996: 992: 989: 988: 986: 984: 980: 970: 967: 965: 962: 961: 959: 955: 949: 946: 944: 941: 939: 936: 935: 933: 931: 927: 921: 918: 916: 913: 912: 910: 908: 904: 901: 899: 895: 883: 880: 878: 875: 874: 872: 868: 865: 863: 860: 859: 857: 853: 850: 849: 847: 843: 840: 838: 835: 833: 830: 828: 825: 822: 820: 817: 816: 814: 811: 810: 808: 804: 798: 795: 793: 790: 788: 784: 783:Neurofilament 781: 780: 778: 774: 768: 764: 761: 760: 757: 753: 750: 749: 746: 743: 741: 737: 734: 733: 731: 727: 721: 718: 716: 713: 710: 706: 702: 698: 695: 692: 688: 685: 682: 678: 675: 672: 668: 665: 662: 658: 655: 652: 648: 645: 642: 638: 635: 632: 628: 625: 622: 618: 615: 612: 608: 605: 602: 598: 595: 592: 588: 585: 581: 578: 576: 573: 571: 568: 567: 566: 562: 558: 554: 550: 549:Keratinopathy 547: 546: 544: 540: 537: 535: 531: 519: 516: 514: 511: 509: 506: 504: 503:FG syndrome 2 501: 500: 499: 496: 492: 489: 487: 484: 483: 482: 479: 478: 476: 472: 462: 459: 458: 456: 454: 450: 444: 441: 439: 436: 435: 433: 431: 427: 421: 418: 416: 413: 412: 410: 408: 404: 398: 395: 393: 390: 388: 385: 383: 380: 378: 375: 373: 370: 369: 367: 365: 361: 355: 352: 350: 347: 345: 342: 340: 337: 336: 334: 332: 328: 325: 323: 319: 316: 314: 310: 305: 298: 293: 291: 286: 284: 279: 278: 275: 262: 258: 257: 253: 251: 247: 246: 242: 241: 238: 233: 229: 222: 213: 209: 204: 199: 195: 191: 187: 183: 179: 172: 169: 164: 158: 154: 147: 144: 140: 139:0-7216-2921-0 136: 132: 126: 123: 111: 107: 101: 98: 91: 87: 84: 82: 79: 77: 74: 73: 69: 67: 65: 64: 58: 56: 52: 48: 39: 37: 33: 29: 25: 20: 1201:expanding it 1194: 1179: 1167: 1149: 1069: 1057: 1038: 1009: 898:Microtubules 719: 304:Cytoskeletal 254: 243: 188:(3): 510–9. 185: 181: 171: 152: 146: 130: 125: 113:. Retrieved 109: 100: 61: 59: 54: 50: 46: 45: 1130:plakophilin 1093:desmoplakin 1059:plakoglobin 813:Laminopathy 709:Monilethrix 557:keratoderma 430:Tropomyosin 322:Myofilament 86:Skin lesion 40:Dermatology 27:Other names 1240:Categories 1146:centrosome 763:Peripherin 92:References 964:Tauopathy 553:keratosis 481:Fibrillin 36:Specialty 991:Spectrin 983:Membrane 824:Dunnigan 407:Troponin 212:16465624 115:23 April 70:See also 1114:plectin 1031:Catenin 1011:Ankyrin 907:Kinesin 815:: LMNA 498:Filamin 306:defects 261:C562924 203:1380294 930:Dynein 858:LEMD3 736:Desmin 364:Myosin 349:DFNA20 250:179850 210:  200:  159:  137:  1086:Other 957:Other 848:LMNB 705:KRT86 701:KRT83 697:KRT81 687:KRT18 677:KRT17 667:KRT14 657:KRT13 647:KRT12 637:KRT10 587:KRT2E 474:Other 453:Titin 331:Actin 1197:stub 1151:PCNT 873:LBR 752:GFAP 627:KRT8 617:KRT5 607:KRT4 597:KRT3 580:IHCM 565:KRT1 256:MeSH 245:OMIM 208:PMID 157:ISBN 135:ISBN 117:2019 63:KRT5 53:and 1071:GAN 1040:APC 563:): 542:1/2 198:PMC 190:doi 1242:: 1148:: 1132:: 1116:: 1095:: 1013:: 993:: 785:: 765:: 754:: 738:: 559:, 555:, 534:IF 259:: 248:: 206:. 196:. 186:78 184:. 180:. 108:. 66:. 1228:e 1221:t 1214:v 1203:. 1158:) 1154:( 1078:) 1074:( 1066:) 1062:( 806:5 776:4 729:3 711:) 707:( 703:/ 699:/ 693:) 689:( 683:) 679:( 673:) 669:( 663:) 659:( 653:) 649:( 643:) 639:( 633:) 629:( 623:) 619:( 613:) 609:( 603:) 599:( 593:) 589:( 551:( 296:e 289:t 282:v 237:D 214:. 192:: 165:. 141:. 119:.

Index

Specialty
KRT5
List of cutaneous conditions
List of cutaneous conditions caused by mutations in keratins
Skin lesion
"Dowling-Degos disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
ISBN
0-7216-2921-0
ISBN
978-1-4160-2999-1
"Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease"
doi
10.1086/500850
PMC
1380294
PMID
16465624
D
OMIM
179850
MeSH
C562924
v
t
e
Cytoskeletal
Microfilaments
Myofilament
Actin
Hypertrophic cardiomyopathy 11

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