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Open wounds on the skin heal slowly or not at all, often scarring extensively, and are particularly susceptible to infection. Many individuals bathe in a bleach and water mixture to fight off these infections. The chronic inflammation leads to errors in the DNA of the affected skin cells, which in
286:
Also known as "Hallopeau–Siemens variant of epidermolysis bullosa" and "Hallopeau–Siemens disease", this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia. It is named for
1379:
823:
Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. (2008). "The classification of inherited epidermolysis bullosa (EB): Report of the Third
International Consensus Meeting on Diagnosis and Classification of EB".
2109:
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121:. Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition. They also have iron-deficiency anemia of uncertain origin, which leads to chronic fatigue.
2184:
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The most common side effects include wound complications. Other common side effects include skin reactions at the application site, wound infections, pruritus (itching), and hypersensitivity (allergic) reactions.
1086:
1365:
210:, junctional epidermolysis bullosa and epidermolysis bullosa simplex, which are not related to type VII collagen deficiency. These arise from mutations in the genes encoding other proteins of the
2332:
924:
2200:
1604:
1633:
1599:
1049:
1074:
723:
Csikós M, Szőcs HI, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, et al. (May 2005). "High frequency of the 425A→G splice-site mutation and novel mutations of the
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1540:
658:
2040:
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1535:
1120:
826:
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2342:
171:) that dimerizes to form a semicircular looping structure: the anchoring fibril. Anchoring fibrils are thought to form a structural link between the epidermal
93:"Butterfly child" is the colloquial name for a child born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly.
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1987:
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1623:
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1652:
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1982:
1977:
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for the treatment of wounds in people with dystrophic epidermolysis bullosa with mutation(s) in the collagen type VII alpha 1 chain (COL7A1) gene.
1618:
1584:
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2565:
1028:
Text was copied from this source which is copyright
European Medicines Agency. Reproduction is authorized provided the source is acknowledged.
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1992:
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1967:
1672:
1545:
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729:
581:
481:
Birch triterpenes was approved for medical use in the
European Union in June 2022, and in the United States in December 2023.
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2357:
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1937:
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1520:
1347:
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674:"Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes"
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gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa".
1972:
925:"FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa"
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2017:
2005:
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1949:
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129:(SCC). The majority of these patients die before the age of 30, either of SCC or complications related to DEB.
41:
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126:
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Bardhan A, Bruckner-Tuderman L, Chapple IL, Fine JD, Harper N, Has C, et al. (24 September 2020).
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65:
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1954:
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258:
132:
The chronic inflammatory state seen in recessive dystrophic epidermolysis bullosa (RDEB) may cause
136:(SFN); RDEB patients have reported the sensation of pain in line with neuropathic pain qualities.
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1997:
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843:
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630:
538:
468:
211:
102:
59:
2990:
2635:
2272:
1790:
582:"'Butterfly Child' With Rare, Painful Condition Displays Strength That Will Blow You Away"
257:
Also known as "Cockayne-Touraine disease", this variant is characterized by vesicles and
105:
and the underlying dermis. The skin of DEB patients is thus highly susceptible to severe
2932:
2387:
2372:
2305:
2087:
2058:
1908:
1872:
1826:
1785:
1481:
1404:
1259:
949:
800:
773:
700:
673:
607:, Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.
460:
357:
Epidermolysis bullosa with congenital localized absence of skin and deformity of nails
3000:
2725:
2477:
2234:
2154:
1738:
1139:
791:
742:
566:
758:
526:
2239:
2229:
2165:
2146:
1396:
196:
1281:
164:. Most families with family members with this condition have distinct mutations.
2670:
2402:
2110:
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
2011:
1890:
1866:
1156:
Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, eds. (2003).
456:
1292:
839:
2160:
1755:
1392:
1244:
542:
444:
117:, and DEB patients may have chronic scarring, webbing, and obstruction of the
110:
550:
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118:
114:
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809:
750:
709:
644:
558:
635:
618:
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2140:
2025:
1837:
1322:
176:
145:
1227:
774:"Immunopathology and molecular diagnosis of autoimmune bullous diseases"
2898:
2473:
431:
153:
106:
156:
type VII collagen (collagen VII). DEB-causing mutations can be either
101:
The deficiency in anchoring fibrils impairs the adherence between the
2185:
Template:Congenital malformations and deformations of skin appendages
2069:
1239:
382:
362:
343:
324:
301:
267:
219:
199:
response against type VII collagen can result in an acquired form of
180:
426:
2943:
2259:
1303:
999:
997:
995:
993:
425:
1138:
This article incorporates text from this source, which is in the
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2626:
2596:
2494:
1270:
388:
368:
349:
330:
311:
305:
273:
244:
49:
The legs of an individual with dystrophic epidermolysis bullosa.
2441:
1918:
Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
1361:
168:
887:
875:
619:"Pain Quality Assessment Scale for Epidermolysis Bullosa"
2333:
Congenital hypertrophy of the lateral fold of the hallux
434:, one of the primary constituents of birch triterpenes
2201:
Template:DNA replication and repair-deficiency disorder
672:
Varki R, Sadowski S, Uitto J, Pfendner E (March 2007).
443:, sold under the brand name Filsuvez, is an extract of
2974:
898:
1217:
2920:
2897:
2877:
2861:
2828:
2799:
2783:
2761:
2739:
2705:
2669:
2644:
2625:
2595:
2529:
2493:
2484:
2288:
2258:
2222:
2213:
2132:
2051:
1798:
1784:
1737:
1686:
1563:
1513:
1495:
1444:
1426:
1412:
1403:
1313:
1221:
1177:
53:
31:
26:
1817:Diffuse nonepidermolytic palmoplantar keratoderma
910:
860:
1541:Nonbullous congenital ichthyosiform erythroderma
2006:Palmoplantar keratoderma and spastic paraplegia
1812:Diffuse epidermolytic palmoplantar keratoderma
827:Journal of the American Academy of Dermatology
218:at the junction between the epidermis and the
2453:
2343:Congenital malformations of the dermatoglyphs
1373:
1158:Fitzpatrick's Dermatology in General Medicine
8:
657:: CS1 maint: multiple names: authors list (
319:Epidermolysis bullosa dystrophica, pretibial
261:on the extensor surfaces of the extremities.
2731:Transient bullous dermolysis of the newborn
1194:Rapini RP, Bolognia JL, Jorizzo JL (2007).
871:
869:
376:Transient bullous dermolysis of the newborn
167:Collagen VII is a very large molecule (300
109:. Collagen VII is also associated with the
2721:Recessive dystrophic epidermolysis bullosa
2490:
2460:
2446:
2438:
2368:Melanotic neuroectodermal tumor of infancy
2219:
2105:Keratosis follicularis spinulosa decalvans
1795:
1536:Ichthyosis–sclerosing cholangitis syndrome
1423:
1409:
1380:
1366:
1358:
1218:
779:Journal of Cellular and Molecular Medicine
617:Schräder NHB, Yuen WY, Jonkman MF (2018).
281:Recessive dystrophic epidermolysis bullosa
64:
40:
23:
2328:Congenital cartilaginous rest of the neck
1923:Focal palmoplantar and gingival keratosis
799:
699:
634:
252:Dominant dystrophic epidermolysis bullosa
2393:Rapidly involuting congenital hemangioma
1983:Keratosis punctata of the palmar creases
1978:Keratosis punctata palmaris et plantaris
1849:Clouston's hidrotic ectodermal dysplasia
234:
203:called epidermolysis bullosa acquisita.
2981:
491:
2566:Spondyloepiphyseal dysplasia congenita
650:
2847:Ullrich congenital muscular dystrophy
2691:Ullrich congenital muscular dystrophy
1454:Congenital ichthyosiform erythroderma
1039:"Filsuvez, common birch bark extract"
206:There exist other types of inherited
144:DEB is caused by genetic defects (or
90:affecting the skin and other organs.
7:
2928:Congenital stromal corneal dystrophy
2115:Keratosis pilaris atrophicans faciei
1700:Dermatopathia pigmentosa reticularis
1175:James W, Berger T, Elston D (2005).
1089:from the original on 21 January 2023
2812:Otospondylomegaepiphyseal dysplasia
2791:Schmid metaphyseal chondrodysplasia
899:Rapini, Bolognia & Jorizzo 2007
772:Mihai S, Sitaru C (May–June 2007).
191:In the absence of mutations of the
2408:Superficial lymphatic malformation
2353:Congenital smooth muscle hamartoma
1822:Palmoplantar keratoderma of Sybert
1391:malformations and deformations of
501:"dystrophic epidermolysis bullosa"
14:
2807:Weissenbacher–Zweymüller syndrome
2716:Epidermolysis bullosa dystrophica
2571:Spondyloepimetaphyseal dysplasia,
1880:Scleroatrophic syndrome of Huriez
1710:Hypohidrotic ectodermal dysplasia
1123:from the original on 15 July 2024
1109:"Drug Trials Snapshots: Filsuvez"
1055:from the original on 15 July 2024
972:"Filsuvez- birch triterpenes gel"
459:extracted from the outer bark of
338:Epidermolysis bullosa pruriginosa
134:small fiber peripheral neuropathy
76:Epidermolysis bullosa dystrophica
27:Epidermolysis bullosa dystrophica
2984:
2907:Junctional epidermolysis bullosa
1993:Porokeratosis plantaris discreta
1950:Striate palmoplantar keratoderma
1133:
1018:from the original on 6 July 2022
792:10.1111/j.1582-4934.2007.00033.x
743:10.1111/j.1365-2133.2005.06542.x
418:This section is an excerpt from
2912:Laryngoonychocutaneous syndrome
2418:Verrucous vascular malformation
2348:Congenital preauricular fistula
2318:Accessory nail of the fifth toe
2195:Template:Pigmentation disorders
1988:Schöpf–Schulz–Passarge syndrome
1968:Acrokeratoelastoidosis of Costa
1673:Laryngoonychocutaneous syndrome
1546:Ichthyosis linearis circumflexa
1531:Ichthyosis prematurity syndrome
1075:"Novel Drug Approvals for 2023"
923:Commissioner Oo (19 May 2023).
911:James, Berger & Elston 2005
861:James, Berger & Elston 2005
2032:Erythrokeratodermia variabilis
1943:Pachyonychia congenita type II
730:British Journal of Dermatology
531:Nature Reviews Disease Primers
1:
2769:Multiple epiphyseal dysplasia
2358:Cystic lymphatic malformation
2311:Cavernous venous malformation
1938:Pachyonychia congenita type I
1861:Corneodermatoosseous syndrome
1521:Ichthyosis bullosa of Siemens
1160:(6th ed.). McGraw-Hill.
455:. The active ingredients are
1766:Popliteal pterygium syndrome
1458:Epidermolytic hyperkeratosis
1115:Food and Drug Administration
1081:Food and Drug Administration
956:Food and Drug Administration
403:Food and Drug Administration
2398:Rosenthal–Kloepfer syndrome
2383:Omphalomesenteric duct cyst
2100:Keratolytic winter erythema
1760:Gerodermia osteodysplastica
1179:(10th ed.). Saunders.
679:Journal of Medical Genetics
580:Pittman T (21 April 2015).
3028:
1973:Focal acral hyperkeratosis
1720:Ellis–van Creveld syndrome
1046:European Medicines Agency
840:10.1016/j.jaad.2008.02.004
417:
2960:
1897:Papillon–Lefèvre syndrome
1468:Harlequin-type ichthyosis
1196:Dermatology: 2-Volume Set
1010:European Medicines Agency
543:10.1038/s41572-020-0210-0
48:
39:
1771:Pseudoxanthoma elasticum
1487:Sjögren–Larsson syndrome
289:François Henri Hallopeau
2504:Osteogenesis imperfecta
2296:Aplasia cutis congenita
1715:Focal dermal hypoplasia
1678:Skin fragility syndrome
1526:Ichthyosis follicularis
692:10.1136/jmg.2006.045302
527:"Epidermolysis bullosa"
505:Genetics Home Reference
127:squamous cell carcinoma
2819:Type XI collagenopathy
2655:Ehlers–Danlos syndrome
2606:Ehlers–Danlos syndrome
2586:Type II collagenopathy
2515:Ehlers–Danlos syndrome
2413:Thyroglossal duct cyst
2378:Nasolacrimal duct cyst
2301:Amniotic band syndrome
2095:Dyskeratosis congenita
2083:Dyskeratosis congenita
1933:Pachyonychia congenita
1844:Bart–Pumphrey syndrome
1776:Van der Woude syndrome
1751:Ehlers–Danlos syndrome
435:
430:Chemical structure of
293:Hermann Werner Siemens
2938:Urbach–Wiethe disease
2775:(types 2, 3, & 6)
2617:Sack–Barabas syndrome
2521:(types 1, 2, & 7)
2278:Nevus flammeus nuchae
2189:Template:Phakomatoses
2161:Hereditary lymphedema
1725:Rapp–Hodgkin syndrome
1414:Congenital ichthyosis
888:Freedberg et al. 2003
876:Freedberg et al. 2003
636:10.2340/00015555-2827
453:epidermolysis bullosa
451:for the treatment of
429:
401:In May 2023, the US
208:epidermolysis bullosa
201:epidermolysis bullosa
2268:Capillary hemangioma
2170:Urticaria pigmentosa
1928:Howel–Evans syndrome
1688:Ectodermal dysplasia
1629:Generalized atrophic
1198:. St. Louis: Mosby.
1119:. 18 December 2023.
1085:. 19 December 2023.
1955:Tyrosinemia type II
1505:X-linked ichthyosis
1463:Lamellar ichthyosis
1436:Ichthyosis vulgaris
1419:erythrokeratodermia
2869:Bullous pemphigoid
2540:Hypochondrogenesis
2338:Congenital lip pit
1902:Haim–Munk syndrome
1854:Vohwinkel syndrome
1729:Hay–Wells syndrome
1705:Hay–Wells syndrome
1551:Ichthyosis hystrix
1477:Netherton syndrome
1314:External resources
978:. 14 February 2024
623:Acta Derm Venereol
449:topical medication
436:
175:and the fibrillar
97:Signs and symptoms
2972:
2971:
2893:
2892:
2885:Knobloch syndrome
2661:(types 1 & 2)
2612:(types 3 & 4)
2561:Marshall syndrome
2556:Stickler syndrome
2435:
2434:
2431:
2430:
2363:Median raphe cyst
2323:Bronchogenic cyst
2245:PHACE association
2209:
2208:
2128:
2127:
2120:Keratosis pilaris
2064:Keratosis pilaris
2018:Carvajal syndrome
1998:Spiny keratoderma
1663:Costello syndrome
1559:
1558:
1337:
1336:
1205:978-1-4160-2999-1
1186:978-0-7216-2921-6
1167:978-0-07-138076-8
1014:. 13 April 2022.
441:Birch triterpenes
420:Birch triterpenes
413:Birch triterpenes
394:
393:
241:Locus & Gene
216:basement membrane
173:basement membrane
150:human COL7A1 gene
115:esophageal lining
88:inherited disease
73:
72:
21:Medical condition
16:Medical condition
3019:
3012:Collagen disease
2989:
2988:
2987:
2980:
2965:fibrous proteins
2950:DFNA8/12, DFNB21
2854:
2851:
2843:
2840:
2836:Bethlem myopathy
2816:
2776:
2773:
2754:
2751:
2747:Fuchs' dystrophy
2698:
2695:
2687:
2684:
2680:Bethlem myopathy
2662:
2659:
2613:
2610:
2582:Kniest dysplasia
2577:
2576:(Strudwick type)
2574:
2551:
2548:
2522:
2519:
2511:
2508:
2491:
2486:Collagen disease
2462:
2455:
2448:
2439:
2250:Sinus pericranii
2220:
2076:Darier's disease
1885:Olmsted syndrome
1796:
1696:Naegeli syndrome
1668:Kindler syndrome
1424:
1410:
1382:
1375:
1368:
1359:
1219:
1209:
1190:
1171:
1143:
1137:
1136:
1132:
1130:
1128:
1105:
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1065:
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1043:
1035:
1029:
1027:
1025:
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1001:
988:
987:
985:
983:
968:
962:
961:
946:
940:
939:
937:
935:
920:
914:
913:, pp. 558–9
908:
902:
896:
890:
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873:
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858:
852:
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820:
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813:
803:
769:
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703:
669:
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614:
608:
603:
597:
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592:
577:
571:
570:
522:
516:
515:
513:
511:
496:
473:Betula pubescens
235:
69:
68:
60:Medical genetics
44:
24:
3027:
3026:
3022:
3021:
3020:
3018:
3017:
3016:
2997:
2996:
2995:
2985:
2983:
2975:
2973:
2968:
2956:
2916:
2889:
2873:
2857:
2852:
2849:
2841:
2838:
2824:
2814:
2795:
2779:
2774:
2771:
2757:
2752:
2749:
2735:
2701:
2696:
2693:
2685:
2682:
2665:
2660:
2657:
2640:
2636:Alport syndrome
2621:
2611:
2608:
2591:
2575:
2572:
2549:
2546:
2545:Achondrogenesis
2525:
2520:
2517:
2509:
2506:
2480:
2466:
2436:
2427:
2289:Other/ungrouped
2284:
2273:Port-wine stain
2254:
2215:
2205:
2124:
2047:
1789:
1780:
1733:
1682:
1567:
1555:
1509:
1491:
1440:
1417:
1399:
1386:
1338:
1333:
1332:
1309:
1308:
1230:
1216:
1206:
1193:
1187:
1174:
1168:
1155:
1152:
1147:
1146:
1134:
1126:
1124:
1107:
1106:
1102:
1092:
1090:
1073:
1072:
1068:
1058:
1056:
1052:
1041:
1037:
1036:
1032:
1021:
1019:
1005:"Filsuvez EPAR"
1003:
1002:
991:
981:
979:
970:
969:
965:
948:
947:
943:
933:
931:
922:
921:
917:
909:
905:
897:
893:
886:
882:
874:
867:
859:
855:
822:
821:
817:
771:
770:
766:
722:
721:
717:
671:
670:
666:
649:
616:
615:
611:
604:
600:
590:
588:
586:Huffington Post
579:
578:
574:
524:
523:
519:
509:
507:
498:
497:
493:
488:
483:
482:
423:
415:
405:(FDA) approved
399:
233:
228:
189:
187:Pathophysiology
142:
99:
63:
22:
17:
12:
11:
5:
3025:
3023:
3015:
3014:
3009:
3007:Genodermatoses
2999:
2998:
2994:
2993:
2970:
2969:
2961:
2958:
2957:
2955:
2954:
2953:
2952:
2940:
2935:
2933:Raine syndrome
2930:
2924:
2922:
2918:
2917:
2915:
2914:
2909:
2903:
2901:
2895:
2894:
2891:
2890:
2888:
2887:
2881:
2879:
2875:
2874:
2872:
2871:
2865:
2863:
2859:
2858:
2856:
2855:
2844:
2832:
2830:
2826:
2825:
2823:
2822:
2809:
2803:
2801:
2797:
2796:
2794:
2793:
2787:
2785:
2781:
2780:
2778:
2777:
2765:
2763:
2759:
2758:
2756:
2755:
2743:
2741:
2737:
2736:
2734:
2733:
2728:
2723:
2718:
2712:
2710:
2703:
2702:
2700:
2699:
2688:
2676:
2674:
2667:
2666:
2664:
2663:
2651:
2649:
2642:
2641:
2639:
2638:
2632:
2630:
2623:
2622:
2620:
2619:
2614:
2602:
2600:
2593:
2592:
2590:
2589:
2579:
2568:
2563:
2558:
2553:
2542:
2536:
2534:
2527:
2526:
2524:
2523:
2512:
2500:
2498:
2488:
2482:
2481:
2478:scleroproteins
2467:
2465:
2464:
2457:
2450:
2442:
2433:
2432:
2429:
2428:
2426:
2425:
2420:
2415:
2410:
2405:
2400:
2395:
2390:
2388:Poland anomaly
2385:
2380:
2375:
2373:Mongolian spot
2370:
2365:
2360:
2355:
2350:
2345:
2340:
2335:
2330:
2325:
2320:
2314:
2313:
2308:
2306:Branchial cyst
2303:
2298:
2292:
2290:
2286:
2285:
2283:
2282:
2281:
2280:
2270:
2264:
2262:
2256:
2255:
2253:
2252:
2247:
2242:
2237:
2232:
2226:
2224:
2217:
2211:
2210:
2207:
2206:
2180:
2179:
2174:
2173:
2172:
2163:
2151:
2150:
2149:
2136:
2134:
2130:
2129:
2126:
2125:
2123:
2122:
2117:
2112:
2107:
2102:
2097:
2091:
2090:
2088:Lelis syndrome
2085:
2080:
2079:
2078:
2066:
2061:
2059:Meleda disease
2055:
2053:
2049:
2048:
2046:
2045:
2044:
2043:
2034:
2022:
2021:
2020:
2008:
2001:
2000:
1995:
1990:
1985:
1980:
1975:
1970:
1960:
1959:
1958:
1957:
1952:
1947:
1946:
1945:
1940:
1930:
1925:
1920:
1911:
1909:Camisa disease
1906:
1905:
1904:
1899:
1887:
1882:
1877:
1876:
1875:
1873:Naxos syndrome
1863:
1858:
1857:
1856:
1851:
1846:
1830:
1829:
1827:Meleda disease
1824:
1819:
1814:
1804:
1802:
1793:
1786:Hyperkeratosis
1782:
1781:
1779:
1778:
1773:
1768:
1763:
1753:
1747:
1745:
1735:
1734:
1732:
1731:
1722:
1717:
1712:
1707:
1702:
1692:
1690:
1684:
1683:
1681:
1680:
1675:
1670:
1665:
1658:
1657:
1656:
1655:
1650:
1639:
1638:
1637:
1636:
1631:
1626:
1621:
1610:
1609:
1608:
1607:
1602:
1597:
1592:
1587:
1582:
1571:
1569:
1561:
1560:
1557:
1556:
1554:
1553:
1548:
1543:
1538:
1533:
1528:
1523:
1517:
1515:
1511:
1510:
1508:
1507:
1501:
1499:
1493:
1492:
1490:
1489:
1484:
1482:CHIME syndrome
1479:
1473:
1472:
1471:
1470:
1460:
1450:
1448:
1442:
1441:
1439:
1438:
1432:
1430:
1421:
1407:
1405:Genodermatosis
1401:
1400:
1387:
1385:
1384:
1377:
1370:
1362:
1356:
1355:
1335:
1334:
1331:
1330:
1318:
1317:
1315:
1311:
1310:
1307:
1306:
1295:
1284:
1273:
1262:
1247:
1231:
1226:
1225:
1223:
1222:Classification
1215:
1214:External links
1212:
1211:
1210:
1204:
1191:
1185:
1172:
1166:
1151:
1148:
1145:
1144:
1100:
1066:
1030:
989:
963:
960:. 19 May 2023.
941:
915:
903:
891:
880:
865:
853:
834:(6): 931–950.
815:
786:(3): 462–481.
764:
737:(5): 879–886.
715:
664:
629:(3): 346–349.
609:
598:
572:
517:
499:Reference GH.
490:
489:
487:
484:
465:Betula pendula
424:
416:
414:
411:
398:
395:
392:
391:
386:
379:
372:
371:
366:
359:
353:
352:
347:
340:
334:
333:
328:
321:
315:
314:
309:
298:
297:
296:
277:
276:
271:
264:
263:
262:
248:
247:
242:
239:
232:
231:Classification
229:
227:
224:
188:
185:
141:
138:
98:
95:
71:
70:
57:
51:
50:
46:
45:
37:
36:
33:
29:
28:
20:
15:
13:
10:
9:
6:
4:
3:
2:
3024:
3013:
3010:
3008:
3005:
3004:
3002:
2992:
2982:
2978:
2967:
2966:
2959:
2951:
2948:
2947:
2946:
2945:
2941:
2939:
2936:
2934:
2931:
2929:
2926:
2925:
2923:
2919:
2913:
2910:
2908:
2905:
2904:
2902:
2900:
2896:
2886:
2883:
2882:
2880:
2876:
2870:
2867:
2866:
2864:
2860:
2848:
2845:
2837:
2834:
2833:
2831:
2827:
2820:
2813:
2810:
2808:
2805:
2804:
2802:
2798:
2792:
2789:
2788:
2786:
2782:
2770:
2767:
2766:
2764:
2760:
2748:
2745:
2744:
2742:
2738:
2732:
2729:
2727:
2726:Bart syndrome
2724:
2722:
2719:
2717:
2714:
2713:
2711:
2708:
2704:
2692:
2689:
2681:
2678:
2677:
2675:
2672:
2668:
2656:
2653:
2652:
2650:
2647:
2643:
2637:
2634:
2633:
2631:
2628:
2624:
2618:
2615:
2607:
2604:
2603:
2601:
2598:
2594:
2587:
2583:
2580:
2578:
2569:
2567:
2564:
2562:
2559:
2557:
2554:
2552:
2543:
2541:
2538:
2537:
2535:
2532:
2528:
2516:
2513:
2505:
2502:
2501:
2499:
2496:
2492:
2489:
2487:
2483:
2479:
2475:
2471:
2463:
2458:
2456:
2451:
2449:
2444:
2443:
2440:
2424:
2421:
2419:
2416:
2414:
2411:
2409:
2406:
2404:
2401:
2399:
2396:
2394:
2391:
2389:
2386:
2384:
2381:
2379:
2376:
2374:
2371:
2369:
2366:
2364:
2361:
2359:
2356:
2354:
2351:
2349:
2346:
2344:
2341:
2339:
2336:
2334:
2331:
2329:
2326:
2324:
2321:
2319:
2316:
2315:
2312:
2309:
2307:
2304:
2302:
2299:
2297:
2294:
2293:
2291:
2287:
2279:
2276:
2275:
2274:
2271:
2269:
2266:
2265:
2263:
2261:
2257:
2251:
2248:
2246:
2243:
2241:
2238:
2236:
2235:Encephalocele
2233:
2231:
2228:
2227:
2225:
2221:
2218:
2214:Developmental
2212:
2204:
2203:
2202:
2197:
2196:
2191:
2190:
2186:
2178:
2177:Hailey–Hailey
2175:
2171:
2167:
2164:
2162:
2159:
2158:
2157:
2156:
2155:immune system
2152:
2148:
2145:
2144:
2143:
2142:
2138:
2137:
2135:
2131:
2121:
2118:
2116:
2113:
2111:
2108:
2106:
2103:
2101:
2098:
2096:
2093:
2092:
2089:
2086:
2084:
2081:
2077:
2074:
2073:
2072:
2071:
2067:
2065:
2062:
2060:
2057:
2056:
2054:
2050:
2042:
2038:
2035:
2033:
2030:
2029:
2028:
2027:
2023:
2019:
2016:
2015:
2014:
2013:
2009:
2007:
2003:
2002:
1999:
1996:
1994:
1991:
1989:
1986:
1984:
1981:
1979:
1976:
1974:
1971:
1969:
1965:
1962:
1961:
1956:
1953:
1951:
1948:
1944:
1941:
1939:
1936:
1935:
1934:
1931:
1929:
1926:
1924:
1921:
1919:
1915:
1912:
1910:
1907:
1903:
1900:
1898:
1895:
1894:
1893:
1892:
1888:
1886:
1883:
1881:
1878:
1874:
1871:
1870:
1869:
1868:
1864:
1862:
1859:
1855:
1852:
1850:
1847:
1845:
1842:
1841:
1840:
1839:
1835:
1834:
1832:
1831:
1828:
1825:
1823:
1820:
1818:
1815:
1813:
1809:
1806:
1805:
1803:
1801:
1797:
1794:
1792:
1791:keratinopathy
1787:
1783:
1777:
1774:
1772:
1769:
1767:
1764:
1761:
1757:
1754:
1752:
1749:
1748:
1746:
1744:
1740:
1736:
1730:
1726:
1723:
1721:
1718:
1716:
1713:
1711:
1708:
1706:
1703:
1701:
1697:
1694:
1693:
1691:
1689:
1685:
1679:
1676:
1674:
1671:
1669:
1666:
1664:
1660:
1659:
1654:
1651:
1649:
1646:
1645:
1644:
1641:
1640:
1635:
1632:
1630:
1627:
1625:
1622:
1620:
1617:
1616:
1615:
1612:
1611:
1606:
1603:
1601:
1598:
1596:
1593:
1591:
1588:
1586:
1583:
1581:
1578:
1577:
1576:
1573:
1572:
1570:
1566:
1562:
1552:
1549:
1547:
1544:
1542:
1539:
1537:
1534:
1532:
1529:
1527:
1524:
1522:
1519:
1518:
1516:
1512:
1506:
1503:
1502:
1500:
1498:
1494:
1488:
1485:
1483:
1480:
1478:
1475:
1474:
1469:
1466:
1465:
1464:
1461:
1459:
1455:
1452:
1451:
1449:
1447:
1443:
1437:
1434:
1433:
1431:
1429:
1425:
1422:
1420:
1415:
1411:
1408:
1406:
1402:
1398:
1394:
1390:
1383:
1378:
1376:
1371:
1369:
1364:
1363:
1360:
1353:
1349:
1345:
1344:
1340:
1339:
1329:
1325:
1324:
1320:
1319:
1316:
1312:
1305:
1301:
1300:
1296:
1294:
1290:
1289:
1285:
1283:
1279:
1278:
1274:
1272:
1268:
1267:
1263:
1261:
1257:
1256:
1252:
1248:
1246:
1242:
1241:
1237:
1233:
1232:
1229:
1224:
1220:
1213:
1207:
1201:
1197:
1192:
1188:
1182:
1178:
1173:
1169:
1163:
1159:
1154:
1153:
1149:
1141:
1140:public domain
1122:
1118:
1116:
1110:
1104:
1101:
1088:
1084:
1082:
1076:
1070:
1067:
1051:
1047:
1040:
1034:
1031:
1017:
1013:
1011:
1006:
1000:
998:
996:
994:
990:
977:
973:
967:
964:
959:
957:
951:
945:
942:
930:
926:
919:
916:
912:
907:
904:
901:, p. 458
900:
895:
892:
889:
884:
881:
878:, p. 601
877:
872:
870:
866:
863:, p. 558
862:
857:
854:
849:
845:
841:
837:
833:
829:
828:
819:
816:
811:
807:
802:
797:
793:
789:
785:
781:
780:
775:
768:
765:
760:
756:
752:
748:
744:
740:
736:
732:
731:
726:
719:
716:
711:
707:
702:
697:
693:
689:
686:(3): 181–92.
685:
681:
680:
675:
668:
665:
660:
654:
646:
642:
637:
632:
628:
624:
620:
613:
610:
606:
602:
599:
587:
583:
576:
573:
568:
564:
560:
556:
552:
548:
544:
540:
536:
532:
528:
521:
518:
506:
502:
495:
492:
485:
480:
476:
474:
470:
466:
462:
458:
454:
450:
446:
442:
438:
433:
428:
421:
412:
410:
408:
404:
396:
390:
387:
384:
380:
377:
374:
373:
370:
367:
364:
360:
358:
355:
354:
351:
348:
345:
341:
339:
336:
335:
332:
329:
326:
322:
320:
317:
316:
313:
310:
307:
303:
299:
294:
290:
285:
284:
282:
279:
278:
275:
272:
269:
265:
260:
256:
255:
253:
250:
249:
246:
243:
240:
237:
236:
230:
225:
223:
221:
217:
213:
209:
204:
202:
198:
194:
186:
184:
182:
179:in the upper
178:
174:
170:
165:
163:
159:
155:
152:encoding the
151:
148:) within the
147:
139:
137:
135:
130:
128:
122:
120:
116:
112:
108:
104:
96:
94:
91:
89:
85:
81:
80:dystrophic EB
77:
67:
61:
58:
56:
52:
47:
43:
38:
35:Dystrophic EB
34:
30:
25:
19:
2962:
2942:
2715:
2510:(types I–IV)
2468:Diseases of
2240:Nasal glioma
2230:Dermoid cyst
2199:
2193:
2182:
2181:
2166:Mastocytosis
2153:
2147:EEM syndrome
2139:
2068:
2024:
2010:
1889:
1865:
1836:
1642:
1397:skin disease
1341:
1321:
1297:
1286:
1275:
1264:
1249:
1234:
1195:
1176:
1157:
1125:. Retrieved
1112:
1103:
1091:. Retrieved
1078:
1069:
1057:. Retrieved
1033:
1020:. Retrieved
1008:
980:. Retrieved
975:
966:
953:
944:
932:. Retrieved
928:
918:
906:
894:
883:
856:
831:
825:
818:
783:
777:
767:
734:
728:
724:
718:
683:
677:
667:
653:cite journal
626:
622:
612:
601:
589:. Retrieved
585:
575:
534:
530:
520:
508:. Retrieved
504:
494:
477:
472:
464:
461:silver birch
439:
437:
400:
375:
356:
337:
318:
280:
251:
205:
190:
166:
143:
131:
125:turn causes
123:
100:
92:
83:
79:
75:
74:
18:
2403:Skin dimple
2012:desmoplakin
2004:ungrouped:
1891:Cathepsin C
1867:plakoglobin
1568:and related
1093:22 December
469:downy birch
457:triterpenes
304:), 3p21.3 (
193:COL7A1 gene
32:Other names
3001:Categories
2476:and other
1833:syndromic
1756:Cutis laxa
1743:Connective
1393:integument
1389:Congenital
1288:DiseasesDB
1059:1 February
486:References
447:used as a
445:birch bark
300:3q22-q23 (
197:autoimmune
111:epithelium
107:blistering
2963:see also
2423:Birthmark
2216:anomalies
2183:see also
1661:related:
1514:Ungrouped
1354:GeneTests
1304:254185007
1299:SNOMED CT
950:"Vyjuvek"
567:221861310
551:2056-676X
537:(1): 78.
397:Treatment
226:Diagnosis
212:epidermis
177:collagens
162:recessive
146:mutations
119:esophagus
103:epidermis
55:Specialty
2991:Medicine
2853:(type 2)
2842:(type 2)
2753:(type 1)
2697:(type 1)
2686:(type 1)
2550:(type 2)
2470:collagen
2141:cadherin
2026:connexin
1964:punctate
1838:connexin
1323:Orphanet
1121:Archived
1087:Archived
1050:Archived
1016:Archived
976:DailyMed
848:18374450
810:17521373
759:44394902
751:15888141
710:16971478
645:29057428
559:32973163
381:3p21.3 (
361:3p21.3 (
342:3p21.3 (
323:3p21.3 (
266:3p21.3 (
158:dominant
86:) is an
2899:Laminin
2474:laminin
2223:Midline
1808:diffuse
1739:Elastic
1282:D016108
1150:Sources
1127:14 July
1048:(EMA).
982:3 March
801:3922353
701:2598021
591:14 July
510:3 April
432:betulin
407:Vyjuvek
378:(TBDN)
283:(RDEB)
254:(DDEB)
214:or the
154:protein
113:of the
2977:Portal
2878:COL18:
2862:COL17:
2850:
2839:
2829:COL12:
2815:
2800:COL11:
2784:COL10:
2772:
2750:
2694:
2683:
2658:
2609:
2573:
2547:
2518:
2507:
2070:ATP2A2
1634:JEB-PA
1605:EBS-MP
1600:EBS-MD
1595:EBS-OG
1590:EBS-DM
1585:EBS-WC
1271:131750
1260:757.39
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1022:6 July
934:1 June
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325:COL7A1
312:226600
302:COL7A1
274:131750
268:COL7A1
259:bullae
220:dermis
181:dermis
140:Causes
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2944:TECTA
2921:Other
2762:COL9:
2740:COL8:
2260:Nevus
2133:Other
2052:Other
1914:focal
1624:Mitis
1619:JEB-H
1580:EBS-K
1293:29580
1245:Q81.2
1117:(FDA)
1113:U.S.
1083:(FDA)
1079:U.S.
1053:(PDF)
1042:(PDF)
1012:(EMA)
958:(FDA)
954:U.S.
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563:S2CID
238:Name
195:, an
2707:COL7
2671:COL6
2646:COL5
2627:COL4
2597:COL3
2531:COL2
2495:COL1
1653:RDEB
1648:DDEB
1277:MeSH
1266:OMIM
1255:9-CM
1200:ISBN
1181:ISBN
1162:ISBN
1129:2024
1095:2023
1061:2024
1024:2022
984:2024
936:2023
844:PMID
806:PMID
747:PMID
706:PMID
659:link
641:PMID
593:2017
555:PMID
547:ISSN
512:2017
306:MMP1
291:and
245:OMIM
2041:KID
2037:HID
1800:PPK
1643:DEB
1614:JEB
1575:EBS
1348:NIH
1346:at
1343:ebd
1328:303
1251:ICD
1236:ICD
929:FDA
836:doi
796:PMC
788:doi
739:doi
735:152
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631:doi
539:doi
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