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Epidermolytic hyperkeratosis

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The condition can be diagnosed via exam that reveals; generalized redness; thick, generally dark, scales that tend to form parallel rows of spines or ridges, especially near large joints; the skin is fragile and blisters easily following trauma; extent of blistering and amount of scale is variable.
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pattern. To a lesser extent, a recessive form exists. It is caused by genetic mutations in the genes encoding the proteins
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Joosten, M. D. W.; Clabbers, J. M. K.; Jonca, N.; Mazereeuw-Hautier, J.; Gostyński, A. H. (15 July 2022).
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EI was first classified by its presence or absence in the palms and soles by DiGiovanna and Bale in 1994.
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DiGiovanna JJ, Bale SJ (August 1994). "Clinical heterogeneity in epidermolytic hyperkeratosis".
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James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020).
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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
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EI is caused by a genetic mutation. The condition involves the clumping of
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Bullous ichthyosiform erythroderma (Concept Id: C0079153) - MedGen - NCBI
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The condition is rare, affecting around 1 in 200,000 to 300,000 babies.
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Keratin 10 is associated with the variants in which these are unaffected.
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The condition is rare, affecting around 1 in 200,000 to 300,000 babies.
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Keratin 1 is associated with the variants affecting the palms and soles.
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Template:Congenital malformations and deformations of skin appendages
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and joint problems. Affected newborns are particularly at risk of
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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typically develops several months later. Other symptoms include
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typically develops several months later. Other symptoms include
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Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
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List of cutaneous conditions caused by mutations in keratins
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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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Congenital hypertrophy of the lateral fold of the hallux
492:(13th ed.). Edinburgh: Elsevier. pp. 563–565. 1638:
Template:DNA replication and repair-deficiency disorder
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Epidermolysis bullosa simplex with muscular dystrophy
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Andrews' Diseases of the Skin: Clinical Dermatology
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bullous congenital ichthyosiform erythroderma Brocq
56: 37: 32: 2120:Terminal osseous dysplasia with pigmentary defects 1254:Diffuse nonepidermolytic palmoplantar keratoderma 978:Nonbullous congenital ichthyosiform erythroderma 1443:Palmoplantar keratoderma and spastic paraplegia 2253:Meesmann juvenile epithelial corneal dystrophy 2203:Meesmann juvenile epithelial corneal dystrophy 1249:Diffuse epidermolytic palmoplantar keratoderma 1890: 1780:Congenital malformations of the dermatoglyphs 810: 486:"27. Genodermatoses and congenital anomalies" 432:Fitzpatrick's Dermatology in General Medicine 346:bullous congenital ichthyosiform erythroderma 8: 2741:Arrhythmogenic right ventricular dysplasia 9 2709:Arrhythmogenic right ventricular dysplasia 8 554:Rice, Ashley S.; Crane, Jonathan S. (2023). 479: 477: 475: 473: 471: 469: 467: 465: 2322:Reticular pigmented anomaly of the flexures 549: 547: 545: 543: 541: 539: 537: 535: 533: 531: 529: 354:bullous ichtyosiform erythroderma congenita 243:. Other therapies include topical and oral 2504: 2140: 1928: 1919: 1897: 1883: 1875: 1805:Melanotic neuroectodermal tumor of infancy 1656: 1542:Keratosis follicularis spinulosa decalvans 1232: 973:Ichthyosis–sclerosing cholangitis syndrome 860: 846: 817: 803: 795: 677: 527: 525: 523: 521: 519: 517: 515: 513: 511: 509: 67: 48: 29: 1765:Congenital cartilaginous rest of the neck 1360:Focal palmoplantar and gingival keratosis 616: 598: 2317:Naegeli–Franceschetti–Jadassohn syndrome 1830:Rapidly involuting congenital hemangioma 1420:Keratosis punctata of the palmar creases 1415:Keratosis punctata palmaris et plantaris 1286:Clouston's hidrotic ectodermal dysplasia 195:The condition is mostly inherited in an 89:, that initially presents with redness, 377: 321: 2725:Epidermolysis bullosa simplex of Ogna 1994:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 891:Congenital ichthyosiform erythroderma 310:Nonbullous ichthyosiform erythroderma 7: 2342:Desmin-related myofibrillar myopathy 1979:Hypertrophic cardiomyopathy 1, 8, 10 1552:Keratosis pilaris atrophicans faciei 1137:Dermatopathia pigmentosa reticularis 305:List of verrucous carcinoma subtypes 2434:Emery–Dreifuss muscular dystrophy 2 2699:Striate palmoplantar keratoderma 2 2394:Charcot–Marie–Tooth disease 1F, 2E 2172:Striate palmoplantar keratoderma 3 1845:Superficial lymphatic malformation 1790:Congenital smooth muscle hamartoma 1259:Palmoplantar keratoderma of Sybert 828:malformations and deformations of 358:bullous ichthyosiform erythroderma 239:Treatment includes applying thick 25: 18:Bullous ichthyosiform erythroderma 2550:Asphyxiating thoracic dysplasia 3 2439:Limb-girdle muscular dystrophy 1B 1317:Scleroatrophic syndrome of Huriez 1147:Hypohidrotic ectodermal dysplasia 587:Orphanet Journal of Rare Diseases 2545:Short rib-polydactyly syndrome 3 2522:Hereditary spastic paraplegia 10 2017:Hypertrophic cardiomyopathy 7, 2 1430:Porokeratosis plantaris discreta 1387:Striate palmoplantar keratoderma 223:Diagnosis is by its appearance, 2444:Charcot–Marie–Tooth disease 2B1 1855:Verrucous vascular malformation 1785:Congenital preauricular fistula 1755:Accessory nail of the fifth toe 1632:Template:Pigmentation disorders 1425:Schöpf–Schulz–Passarge syndrome 1405:Acrokeratoelastoidosis of Costa 1110:Laryngoonychocutaneous syndrome 983:Ichthyosis linearis circumflexa 968:Ichthyosis prematurity syndrome 143:, that initially presents with 2653:Familial adenomatous polyposis 2607:Hereditary elliptocytosis 2, 3 2517:Charcot–Marie–Tooth disease 2A 2429:Familial partial lipodystrophy 1941:Hypertrophic cardiomyopathy 11 1469:Erythrokeratodermia variabilis 1380:Pachyonychia congenita type II 556:"Epidermolytic Hyperkeratosis" 1: 2602:Hereditary spherocytosis 2, 3 2571:Cavernous venous malformation 2399:Amyotrophic lateral sclerosis 2369:Amyotrophic lateral sclerosis 2273:Epidermolysis bullosa simplex 2223:Epidermolysis bullosa simplex 2193:Ichthyosis bullosa of Siemens 2063:Hypertrophic cardiomyopathy 9 2040:Hypertrophic cardiomyopathy 3 1795:Cystic lymphatic malformation 1748:Cavernous venous malformation 1375:Pachyonychia congenita type I 1298:Corneodermatoosseous syndrome 958:Ichthyosis bullosa of Siemens 284:Ichthyosis bullosa of Siemens 187:, and electrolyte imbalance. 33:Epidermolytic Ichthyosis (EI) 2243:Epidermolytic hyperkeratosis 2177:Epidermolytic hyperkeratosis 1203:Popliteal pterygium syndrome 895:Epidermolytic hyperkeratosis 338:epidermolytic hyperkeratosis 330:bullous epidermis ichthyosis 295:List of cutaneous conditions 42:Bullous epidermis ichthyosis 2464:Buschke–Ollendorff syndrome 1835:Rosenthal–Kloepfer syndrome 1820:Omphalomesenteric duct cyst 1537:Keratolytic winter erythema 1197:Gerodermia osteodysplastica 654:10.1001/archderm.130.8.1026 2818: 2623:Hereditary spherocytosis 1 2540:Primary ciliary dyskinesia 1946:Dilated cardiomyopathy 1AA 1410:Focal acral hyperkeratosis 1157:Ellis–van Creveld syndrome 600:10.1186/s13023-022-02430-6 434:. (6th ed.). McGraw-Hill. 430:Freedberg, et al. (2003). 2767: 2454:Barraquer–Simons syndrome 2347:Dilated cardiomyopathy 1I 2093:Weill–Marchesani syndrome 1334:Papillon–Lefèvre syndrome 905:Harlequin-type ichthyosis 562:. StatPearls Publishing. 387:Dermatology: 2-Volume Set 258:is being studied for EI. 119:involving palms and soles 47: 2597:Spinocerebellar ataxia 5 2421:Mandibuloacral dysplasia 1989:Freeman–Sheldon syndrome 1208:Pseudoxanthoma elasticum 924:Sjögren–Larsson syndrome 227:, and genetic testing. 121:and the other without. 79:Epidermolytic ichthyosis 2736:Skin fragility syndrome 2678:Giant axonal neuropathy 2283:Steatocystoma multiplex 1733:Aplasia cutis congenita 1152:Focal dermal hypoplasia 1115:Skin fragility syndrome 963:Ichthyosis follicularis 139:EI is a severe form of 85:), is a severe form of 2022:Nemaline myopathy 4, 5 1850:Thyroglossal duct cyst 1815:Nasolacrimal duct cyst 1738:Amniotic band syndrome 1532:Dyskeratosis congenita 1520:Dyskeratosis congenita 1370:Pachyonychia congenita 1281:Bart–Pumphrey syndrome 1213:Van der Woude syndrome 1188:Ehlers–Danlos syndrome 2772:Cytoskeletal proteins 1715:Nevus flammeus nuchae 1626:Template:Phakomatoses 1598:Hereditary lymphedema 1162:Rapp–Hodgkin syndrome 851:Congenital ichthyosis 2802:Cytoskeletal defects 1705:Capillary hemangioma 1607:Urticaria pigmentosa 1365:Howel–Evans syndrome 1125:Ectodermal dysplasia 1066:Generalized atrophic 389:. St. Louis: Mosby. 2479:Pelger–Huet anomaly 2389:Parkinson's disease 2110:Boomerang dysplasia 2045:Nemaline myopathy 1 1999:May–Hegglin anomaly 1956:Nemaline myopathy 3 1392:Tyrosinemia type II 942:X-linked ichthyosis 900:Lamellar ichthyosis 873:Ichthyosis vulgaris 856:erythrokeratodermia 191:Cause and mechanism 155:in a newborn baby. 97:in a newborn baby. 2648:Gardner's syndrome 2617:Long QT syndrome 4 2293:Familial cirrhosis 2263:White sponge nevus 2233:Familial cirrhosis 2213:White sponge nevus 1775:Congenital lip pit 1339:Haim–Munk syndrome 1291:Vohwinkel syndrome 1166:Hay–Wells syndrome 1142:Hay–Wells syndrome 988:Ichthyosis hystrix 914:Netherton syndrome 758:External resources 197:autosomal dominant 135:Signs and symptoms 2779: 2778: 2704:Carvajal syndrome 2579: 2578: 2494: 2493: 2358:Alexander disease 2130: 2129: 2071: 2070: 1984:Usher syndrome 1B 1974:Elejalde syndrome 1872: 1871: 1868: 1867: 1800:Median raphe cyst 1760:Bronchogenic cyst 1682:PHACE association 1646: 1645: 1565: 1564: 1557:Keratosis pilaris 1501:Keratosis pilaris 1455:Carvajal syndrome 1435:Spiny keratoderma 1100:Costello syndrome 996: 995: 792: 791: 499:978-0-323-54753-6 396:978-1-4160-2999-1 76: 75: 27:Medical condition 16:(Redirected from 2809: 2770:Related topics: 2505: 2141: 1929: 1920: 1899: 1892: 1885: 1876: 1687:Sinus pericranii 1657: 1513:Darier's disease 1322:Olmsted syndrome 1233: 1133:Naegeli syndrome 1105:Kindler syndrome 861: 847: 819: 812: 805: 796: 678: 666: 665: 637: 631: 630: 620: 602: 578: 572: 571: 551: 504: 503: 481: 460: 449: 443: 428: 422: 421: 420: 419: 407: 401: 400: 382: 365: 326: 173:absence of sweat 151:, erosions, and 115:absence of sweat 93:, erosions, and 72: 71: 63:Medical genetics 52: 30: 21: 2817: 2816: 2812: 2811: 2810: 2808: 2807: 2806: 2782: 2781: 2780: 2775: 2763: 2683: 2627: 2575: 2554: 2526: 2490: 2469:Osteopoikilosis 2403: 2373: 2326: 2126: 2115:Larsen syndrome 2088:Marfan syndrome 2067: 2049: 2026: 2003: 1960: 1909: 1903: 1873: 1864: 1726:Other/ungrouped 1721: 1710:Port-wine stain 1691: 1652: 1642: 1561: 1484: 1226: 1217: 1170: 1119: 1004: 992: 946: 928: 877: 854: 836: 823: 793: 788: 787: 753: 752: 689: 675: 670: 669: 639: 638: 634: 580: 579: 575: 553: 552: 507: 500: 483: 482: 463: 450: 446: 429: 425: 417: 415: 409: 408: 404: 397: 384: 383: 379: 374: 369: 368: 327: 323: 318: 280: 272: 264: 253: 237: 221: 193: 137: 66: 28: 23: 22: 15: 12: 11: 5: 2815: 2813: 2805: 2804: 2799: 2794: 2792:Genodermatoses 2784: 2783: 2777: 2776: 2768: 2765: 2764: 2762: 2761: 2744: 2743: 2738: 2728: 2727: 2722: 2712: 2711: 2706: 2701: 2691: 2689: 2685: 2684: 2682: 2681: 2669: 2666:Naxos syndrome 2657: 2656: 2655: 2650: 2637: 2635: 2629: 2628: 2626: 2625: 2610: 2609: 2604: 2599: 2589: 2587: 2581: 2580: 2577: 2576: 2574: 2573: 2568: 2562: 2560: 2556: 2555: 2553: 2552: 2547: 2542: 2536: 2534: 2528: 2527: 2525: 2524: 2519: 2513: 2511: 2502: 2496: 2495: 2492: 2491: 2489: 2488: 2487: 2486: 2481: 2473: 2472: 2471: 2466: 2458: 2457: 2456: 2448: 2447: 2446: 2441: 2436: 2431: 2423: 2411: 2409: 2405: 2404: 2402: 2401: 2396: 2391: 2381: 2379: 2375: 2374: 2372: 2371: 2361: 2360: 2350: 2349: 2344: 2334: 2332: 2328: 2327: 2325: 2324: 2319: 2314: 2296: 2286: 2276: 2266: 2256: 2246: 2236: 2226: 2216: 2206: 2196: 2186: 2185: 2184: 2179: 2174: 2163:hyperkeratosis 2147: 2145: 2138: 2132: 2131: 2128: 2127: 2125: 2124: 2123: 2122: 2117: 2112: 2107: 2097: 2096: 2095: 2090: 2079: 2077: 2073: 2072: 2069: 2068: 2066: 2065: 2059: 2057: 2051: 2050: 2048: 2047: 2042: 2036: 2034: 2028: 2027: 2025: 2024: 2019: 2013: 2011: 2005: 2004: 2002: 2001: 1996: 1991: 1986: 1981: 1976: 1970: 1968: 1962: 1961: 1959: 1958: 1953: 1948: 1943: 1937: 1935: 1926: 1917: 1915:Microfilaments 1911: 1910: 1904: 1902: 1901: 1894: 1887: 1879: 1870: 1869: 1866: 1865: 1863: 1862: 1857: 1852: 1847: 1842: 1837: 1832: 1827: 1825:Poland anomaly 1822: 1817: 1812: 1810:Mongolian spot 1807: 1802: 1797: 1792: 1787: 1782: 1777: 1772: 1767: 1762: 1757: 1751: 1750: 1745: 1743:Branchial cyst 1740: 1735: 1729: 1727: 1723: 1722: 1720: 1719: 1718: 1717: 1707: 1701: 1699: 1693: 1692: 1690: 1689: 1684: 1679: 1674: 1669: 1663: 1661: 1654: 1648: 1647: 1644: 1643: 1617: 1616: 1611: 1610: 1609: 1600: 1588: 1587: 1586: 1573: 1571: 1567: 1566: 1563: 1562: 1560: 1559: 1554: 1549: 1544: 1539: 1534: 1528: 1527: 1525:Lelis syndrome 1522: 1517: 1516: 1515: 1503: 1498: 1496:Meleda disease 1492: 1490: 1486: 1485: 1483: 1482: 1481: 1480: 1471: 1459: 1458: 1457: 1445: 1438: 1437: 1432: 1427: 1422: 1417: 1412: 1407: 1397: 1396: 1395: 1394: 1389: 1384: 1383: 1382: 1377: 1367: 1362: 1357: 1348: 1346:Camisa disease 1343: 1342: 1341: 1336: 1324: 1319: 1314: 1313: 1312: 1310:Naxos syndrome 1300: 1295: 1294: 1293: 1288: 1283: 1267: 1266: 1264:Meleda disease 1261: 1256: 1251: 1241: 1239: 1230: 1223:Hyperkeratosis 1219: 1218: 1216: 1215: 1210: 1205: 1200: 1190: 1184: 1182: 1172: 1171: 1169: 1168: 1159: 1154: 1149: 1144: 1139: 1129: 1127: 1121: 1120: 1118: 1117: 1112: 1107: 1102: 1095: 1094: 1093: 1092: 1087: 1076: 1075: 1074: 1073: 1068: 1063: 1058: 1047: 1046: 1045: 1044: 1039: 1034: 1029: 1024: 1019: 1008: 1006: 998: 997: 994: 993: 991: 990: 985: 980: 975: 970: 965: 960: 954: 952: 948: 947: 945: 944: 938: 936: 930: 929: 927: 926: 921: 919:CHIME syndrome 916: 910: 909: 908: 907: 897: 887: 885: 879: 878: 876: 875: 869: 867: 858: 844: 842:Genodermatosis 838: 837: 824: 822: 821: 814: 807: 799: 790: 789: 786: 785: 774: 762: 761: 759: 755: 754: 751: 750: 739: 728: 717: 706: 690: 685: 684: 682: 681:Classification 674: 673:External links 671: 668: 667: 648:(8): 1026–35. 632: 573: 505: 498: 461: 444: 423: 402: 395: 376: 375: 373: 370: 367: 366: 328:also known as 320: 319: 317: 314: 313: 312: 307: 302: 297: 292: 286: 279: 276: 271: 268: 263: 260: 252: 249: 236: 233: 220: 217: 216: 215: 212: 192: 189: 157:Hyperkeratosis 141:dry scaly skin 136: 133: 99:Hyperkeratosis 87:dry scaly skin 74: 73: 60: 54: 53: 45: 44: 39: 35: 34: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 2814: 2803: 2800: 2798: 2797:Rare diseases 2795: 2793: 2790: 2789: 2787: 2774: 2773: 2766: 2759: 2755: 2754: 2749: 2746: 2745: 2742: 2739: 2737: 2733: 2730: 2729: 2726: 2723: 2721: 2717: 2714: 2713: 2710: 2707: 2705: 2702: 2700: 2696: 2693: 2692: 2690: 2686: 2679: 2675: 2674: 2670: 2667: 2663: 2662: 2658: 2654: 2651: 2649: 2646: 2645: 2644: 2643: 2639: 2638: 2636: 2634: 2630: 2624: 2621: 2620: 2619: 2618: 2614: 2608: 2605: 2603: 2600: 2598: 2594: 2591: 2590: 2588: 2586: 2582: 2572: 2569: 2567: 2564: 2563: 2561: 2557: 2551: 2548: 2546: 2543: 2541: 2538: 2537: 2535: 2533: 2529: 2523: 2520: 2518: 2515: 2514: 2512: 2510: 2506: 2503: 2501: 2497: 2485: 2482: 2480: 2477: 2476: 2474: 2470: 2467: 2465: 2462: 2461: 2459: 2455: 2452: 2451: 2449: 2445: 2442: 2440: 2437: 2435: 2432: 2430: 2427: 2424: 2422: 2419: 2418: 2416: 2413: 2412: 2410: 2406: 2400: 2397: 2395: 2392: 2390: 2386: 2385:Neurofilament 2383: 2382: 2380: 2376: 2370: 2366: 2363: 2362: 2359: 2355: 2352: 2351: 2348: 2345: 2343: 2339: 2336: 2335: 2333: 2329: 2323: 2320: 2318: 2315: 2312: 2308: 2304: 2300: 2297: 2294: 2290: 2287: 2284: 2280: 2277: 2274: 2270: 2267: 2264: 2260: 2257: 2254: 2250: 2247: 2244: 2240: 2237: 2234: 2230: 2227: 2224: 2220: 2217: 2214: 2210: 2207: 2204: 2200: 2197: 2194: 2190: 2187: 2183: 2180: 2178: 2175: 2173: 2170: 2169: 2168: 2164: 2160: 2156: 2152: 2151:Keratinopathy 2149: 2148: 2146: 2142: 2139: 2137: 2133: 2121: 2118: 2116: 2113: 2111: 2108: 2106: 2105:FG syndrome 2 2103: 2102: 2101: 2098: 2094: 2091: 2089: 2086: 2085: 2084: 2081: 2080: 2078: 2074: 2064: 2061: 2060: 2058: 2056: 2052: 2046: 2043: 2041: 2038: 2037: 2035: 2033: 2029: 2023: 2020: 2018: 2015: 2014: 2012: 2010: 2006: 2000: 1997: 1995: 1992: 1990: 1987: 1985: 1982: 1980: 1977: 1975: 1972: 1971: 1969: 1967: 1963: 1957: 1954: 1952: 1949: 1947: 1944: 1942: 1939: 1938: 1936: 1934: 1930: 1927: 1925: 1921: 1918: 1916: 1912: 1907: 1900: 1895: 1893: 1888: 1886: 1881: 1880: 1877: 1861: 1858: 1856: 1853: 1851: 1848: 1846: 1843: 1841: 1838: 1836: 1833: 1831: 1828: 1826: 1823: 1821: 1818: 1816: 1813: 1811: 1808: 1806: 1803: 1801: 1798: 1796: 1793: 1791: 1788: 1786: 1783: 1781: 1778: 1776: 1773: 1771: 1768: 1766: 1763: 1761: 1758: 1756: 1753: 1752: 1749: 1746: 1744: 1741: 1739: 1736: 1734: 1731: 1730: 1728: 1724: 1716: 1713: 1712: 1711: 1708: 1706: 1703: 1702: 1700: 1698: 1694: 1688: 1685: 1683: 1680: 1678: 1675: 1673: 1672:Encephalocele 1670: 1668: 1665: 1664: 1662: 1658: 1655: 1651:Developmental 1649: 1641: 1640: 1639: 1634: 1633: 1628: 1627: 1623: 1615: 1614:Hailey–Hailey 1612: 1608: 1604: 1601: 1599: 1596: 1595: 1594: 1593: 1592:immune system 1589: 1585: 1582: 1581: 1580: 1579: 1575: 1574: 1572: 1568: 1558: 1555: 1553: 1550: 1548: 1545: 1543: 1540: 1538: 1535: 1533: 1530: 1529: 1526: 1523: 1521: 1518: 1514: 1511: 1510: 1509: 1508: 1504: 1502: 1499: 1497: 1494: 1493: 1491: 1487: 1479: 1475: 1472: 1470: 1467: 1466: 1465: 1464: 1460: 1456: 1453: 1452: 1451: 1450: 1446: 1444: 1440: 1439: 1436: 1433: 1431: 1428: 1426: 1423: 1421: 1418: 1416: 1413: 1411: 1408: 1406: 1402: 1399: 1398: 1393: 1390: 1388: 1385: 1381: 1378: 1376: 1373: 1372: 1371: 1368: 1366: 1363: 1361: 1358: 1356: 1352: 1349: 1347: 1344: 1340: 1337: 1335: 1332: 1331: 1330: 1329: 1325: 1323: 1320: 1318: 1315: 1311: 1308: 1307: 1306: 1305: 1301: 1299: 1296: 1292: 1289: 1287: 1284: 1282: 1279: 1278: 1277: 1276: 1272: 1271: 1269: 1268: 1265: 1262: 1260: 1257: 1255: 1252: 1250: 1246: 1243: 1242: 1240: 1238: 1234: 1231: 1229: 1228:keratinopathy 1224: 1220: 1214: 1211: 1209: 1206: 1204: 1201: 1198: 1194: 1191: 1189: 1186: 1185: 1183: 1181: 1177: 1173: 1167: 1163: 1160: 1158: 1155: 1153: 1150: 1148: 1145: 1143: 1140: 1138: 1134: 1131: 1130: 1128: 1126: 1122: 1116: 1113: 1111: 1108: 1106: 1103: 1101: 1097: 1096: 1091: 1088: 1086: 1083: 1082: 1081: 1078: 1077: 1072: 1069: 1067: 1064: 1062: 1059: 1057: 1054: 1053: 1052: 1049: 1048: 1043: 1040: 1038: 1035: 1033: 1030: 1028: 1025: 1023: 1020: 1018: 1015: 1014: 1013: 1010: 1009: 1007: 1003: 999: 989: 986: 984: 981: 979: 976: 974: 971: 969: 966: 964: 961: 959: 956: 955: 953: 949: 943: 940: 939: 937: 935: 931: 925: 922: 920: 917: 915: 912: 911: 906: 903: 902: 901: 898: 896: 892: 889: 888: 886: 884: 880: 874: 871: 870: 868: 866: 862: 859: 857: 852: 848: 845: 843: 839: 835: 831: 827: 820: 815: 813: 808: 806: 801: 800: 797: 784: 780: 779: 775: 773: 769: 768: 764: 763: 760: 756: 749: 745: 744: 740: 738: 734: 733: 729: 727: 723: 722: 718: 716: 712: 711: 707: 705: 701: 700: 696: 692: 691: 688: 683: 679: 672: 663: 659: 655: 651: 647: 643: 642:Arch Dermatol 636: 633: 628: 624: 619: 614: 610: 606: 601: 596: 592: 588: 584: 577: 574: 569: 565: 561: 557: 550: 548: 546: 544: 542: 540: 538: 536: 534: 532: 530: 528: 526: 524: 522: 520: 518: 516: 514: 512: 510: 506: 501: 495: 491: 487: 480: 478: 476: 474: 472: 470: 468: 466: 462: 459: 458:Who Named It? 455: 454: 448: 445: 441: 440:0-07-138076-0 437: 433: 427: 424: 414: 413: 406: 403: 398: 392: 388: 381: 378: 371: 363: 359: 355: 351: 347: 343: 339: 335: 331: 325: 322: 315: 311: 308: 306: 303: 301: 298: 296: 293: 290: 287: 285: 282: 281: 277: 275: 269: 267: 261: 259: 257: 250: 248: 246: 242: 234: 232: 228: 226: 218: 213: 210: 209: 208: 206: 202: 198: 190: 188: 186: 182: 178: 174: 170: 166: 162: 158: 154: 150: 146: 142: 134: 132: 129: 127: 122: 120: 116: 112: 108: 104: 100: 96: 92: 88: 84: 80: 70: 64: 61: 59: 55: 51: 46: 43: 40: 36: 31: 19: 2769: 2751: 2671: 2659: 2640: 2611: 2500:Microtubules 2242: 2176: 1906:Cytoskeletal 1677:Nasal glioma 1667:Dermoid cyst 1636: 1630: 1619: 1618: 1603:Mastocytosis 1590: 1584:EEM syndrome 1576: 1505: 1461: 1447: 1326: 1302: 1273: 894: 834:skin disease 776: 765: 741: 730: 719: 708: 693: 645: 641: 635: 590: 586: 576: 559: 489: 451: 447: 431: 426: 416:, retrieved 411: 405: 386: 380: 361: 357: 353: 349: 345: 341: 337: 333: 329: 324: 289:Isotretinoin 273: 265: 262:Epidemiology 256:Gene therapy 254: 241:moisturisers 238: 229: 222: 194: 138: 130: 123: 82: 78: 77: 41: 2732:plakophilin 2695:desmoplakin 2661:plakoglobin 2415:Laminopathy 2311:Monilethrix 2159:keratoderma 2032:Tropomyosin 1924:Myofilament 1840:Skin dimple 1449:desmoplakin 1441:ungrouped: 1328:Cathepsin C 1304:plakoglobin 1005:and related 225:skin biopsy 181:dehydration 128:filaments. 38:Other names 2786:Categories 2748:centrosome 2365:Peripherin 1270:syndromic 1193:Cutis laxa 1180:Connective 830:integument 826:Congenital 732:DiseasesDB 593:(1): 269. 560:StatPearls 418:2023-08-10 372:References 291:(Accutane) 205:keratin 10 163:, painful 105:, painful 2566:Tauopathy 2155:keratosis 2083:Fibrillin 1860:Birthmark 1653:anomalies 1620:see also 1098:related: 951:Ungrouped 767:eMedicine 748:239071005 743:SNOMED CT 609:1750-1172 453:synd/1036 245:retinoids 235:Treatment 219:Diagnosis 201:keratin 1 177:infection 169:body odor 111:body odor 109:, strong 58:Specialty 2593:Spectrin 2585:Membrane 2426:Dunnigan 2009:Troponin 1578:cadherin 1463:connexin 1401:punctate 1275:connexin 778:Orphanet 772:derm/590 627:35840979 568:31335043 278:See also 251:Research 165:fissures 149:blisters 107:fissures 91:blisters 2716:plectin 2633:Catenin 2613:Ankyrin 2509:Kinesin 2417:: LMNA 2100:Filamin 1908:defects 1660:Midline 1245:diffuse 1176:Elastic 726:D017488 662:8053700 618:9287901 270:History 153:peeling 145:redness 126:keratin 95:peeling 2532:Dynein 2460:LEMD3 2338:Desmin 1966:Myosin 1951:DFNA20 1507:ATP2A2 1071:JEB-PA 1042:EBS-MP 1037:EBS-MD 1032:EBS-OG 1027:EBS-DM 1022:EBS-WC 715:113800 660:  625:  615:  607:  566:  496:  438:  393:  185:sepsis 171:, and 113:, and 65:  2688:Other 2559:Other 2450:LMNB 2307:KRT86 2303:KRT83 2299:KRT81 2289:KRT18 2279:KRT17 2269:KRT14 2259:KRT13 2249:KRT12 2239:KRT10 2189:KRT2E 2076:Other 2055:Titin 1933:Actin 1697:Nevus 1570:Other 1489:Other 1351:focal 1061:Mitis 1056:JEB-H 1017:EBS-K 737:33392 704:Q80.3 316:Notes 2753:PCNT 2475:LBR 2354:GFAP 2229:KRT8 2219:KRT5 2209:KRT4 2199:KRT3 2182:IHCM 2167:KRT1 1090:RDEB 1085:DDEB 721:MeSH 710:OMIM 658:PMID 623:PMID 605:ISSN 564:PMID 494:ISBN 436:ISBN 391:ISBN 350:BCIE 161:itch 103:itch 2673:GAN 2642:APC 2165:): 2144:1/2 1478:KID 1474:HID 1237:PPK 1080:DEB 1051:JEB 1012:EBS 783:312 695:ICD 650:doi 646:130 613:PMC 595:doi 456:at 360:or 352:), 344:), 342:EHK 336:), 334:BEI 203:or 167:, 2788:: 2750:: 2734:: 2718:: 2697:: 2615:: 2595:: 2387:: 2367:: 2356:: 2340:: 2161:, 2157:, 2136:IF 1635:, 1629:, 1624:, 1403:: 1353:: 1247:: 1002:EB 934:XR 893:: 883:AR 865:AD 832:/ 781:: 770:: 746:: 735:: 724:: 713:: 702:: 699:10 656:. 644:. 621:. 611:. 603:. 591:17 589:. 585:. 558:. 508:^ 488:. 464:^ 356:, 183:, 147:, 83:EI 2760:) 2756:( 2680:) 2676:( 2668:) 2664:( 2408:5 2378:4 2331:3 2313:) 2309:( 2305:/ 2301:/ 2295:) 2291:( 2285:) 2281:( 2275:) 2271:( 2265:) 2261:( 2255:) 2251:( 2245:) 2241:( 2235:) 2231:( 2225:) 2221:( 2215:) 2211:( 2205:) 2201:( 2195:) 2191:( 2153:( 1898:e 1891:t 1884:v 1605:/ 1476:/ 1225:/ 1199:) 1195:( 1178:/ 1164:/ 1135:/ 853:/ 818:e 811:t 804:v 697:- 687:D 664:. 652:: 629:. 597:: 570:. 502:. 442:. 399:. 364:, 348:( 340:( 332:( 81:( 20:)

Index

Bullous ichthyosiform erythroderma

Specialty
Medical genetics
Edit this on Wikidata
dry scaly skin
blisters
peeling
Hyperkeratosis
itch
fissures
body odor
absence of sweat
involving palms and soles
keratin
dry scaly skin
redness
blisters
peeling
Hyperkeratosis
itch
fissures
body odor
absence of sweat
infection
dehydration
sepsis
autosomal dominant
keratin 1
keratin 10

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