大疱性表皮松解症

Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020 Oct;183(4):614-27.全文  摘要

Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun;70(6):1103-26.全文  摘要

Has C, Liu L, Bolling MC, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020 Mar;182(3):574-92.全文  摘要

Has C, El Hachem M, Bučková H, et al. Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for rare skin diseases. J Eur Acad Dermatol Venereol. 2021 Dec;35(12):2349-60.全文  摘要

1. Fine J-D, Burge SM. Genetic blistering diseases. In: Burns T, Breathnach S, Cox N, et al, eds. Rook's Textbook of Dermatology. 8th ed. Oxford: Wiley-Blackwell; 2010: 39.1-39.37.

2. Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020 Oct;183(4):614-27.全文  摘要

3. Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun;70(6):1103-26.全文  摘要

4. Fine JD, Johnson LB, Suchindran C, et al. The epidemiology of inherited EB: findings within American, Canadian, and European study populations. In: Fine JD, Bauer EA, McGuire J, et al, eds. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Baltimore, MD: Johns Hopkins University Press; 1999:101-113.

5. Pfendner E, Uitto J, Fine JD. Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol. 2001;116:483-484. 摘要

6. Petrof G, Papanikolaou M, Martinez AE, et al. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database. Br J Dermatol. 2022 May;186(5):843-8. 摘要

7. So JY, Teng J. Epidermolysis Bullosa Simplex. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews (Internet). Seattle, (WA): University of Washington, Seattle; August 4, 2022.全文

8. Kiritsi D, Nyström A. Recent advances in understanding and managing epidermolysis bullosa. F1000Res. 2018 Jul 17;7: F1000 Faculty Rev-1097.全文  摘要

9. Fine JD, Eady RA, Bauer EA, et al. Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol. 2000 Jun;42(6):1051-66. 摘要

10. Fuchs EV. The molecular biology of epidermolysis bullosa simplex. In: Fine JD, Bauer EA, McGuire J, et al, eds. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Baltimore, MD: Johns Hopkins University Press; 1999:280-99.

11. Groves RW, Liu L, Dopping-Hepenstal P, et al. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol. 2010 Jun;130(6):1551-7.全文  摘要

12. Lin Z, Li S, Feng C, et al. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet. 2016 Dec;48(12):1508-16. 摘要

13. He Y, Maier K, Leppert J, et al. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility. Am J Hum Genet. 2016 Dec 1;99(6):1395-1404.全文  摘要

14. Uttam J, Hutton E, Coulombe PA, et al. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci USA. 1996;93:9079-9084.全文  摘要

15. Uitto J, Pulkkinen L, Smith FJ, et al. Plectin and human genetic disorders of the skin and muscle. Exp Dermatol. 1996;5:237-246. 摘要

16. Koss-Harnes D, Høyheim B, Anton-Lamprecht I, et al. A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J Invest Dermatol. 2002;118:87-93. 摘要

17. McLean WH, Pulkkinen L, Smith FJ, et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev. 1996;10:1724-1735.全文  摘要

18. Vidal F, Aberdam D, Miquel C, et al. Integrin b4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet. 1995;10:229-234. 摘要

19. Shimizu H, Suzumori K, Hatta N, et al. Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence. Arch Dermatol. 1996;132:919-925. 摘要

20. Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol. 2005;124:111-115. 摘要

21. Varki R, Sadowski S, Pfendner E, et al. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet. 2006;43:641-652. 摘要

22. Varki R, Sadowski S, Uitto J, et al. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype/genotype correlations in the dystrophic subtypes. J Med Genet. 2007;44:181-192. 摘要

23. Siegel DH, Ashton GH, Penagos HG, et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003;73:174-187.全文  摘要

24. Fine JD, Mellerio J. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol. 2009;61:387-402. 摘要

25. Fine JD, Mellerio J. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol. 2009;61:367-384. 摘要

26. Bauer EA. Collagenase in recessive dystrophic epidermolysis bullosa. Ann NY Acad Sci. 1985;460:311-320. 摘要

27. Ortiz-Urda S, Garcia J, Green CL, et al. Type VII collagen is required for Ras-driven human epidermal tumorigenesis. Science. 2005;307:1773-1776. 摘要

28. Pourreyron C, Cox G, Mao X, et al. Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol. 2007;127:2438-2444. 摘要

29. Martins VL, Vyas JJ, Chen M, et al. Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci. 2009 Jun 1;122(pt 11):1788-99.全文  摘要

30. Fritsch A, Loeckermann S, Kern JS, et al. A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. J Clin Invest. 2008 May;118(5):1669-79.全文  摘要

31. Küttner V, Mack C, Rigbolt KT, et al. Global remodelling of cellular microenvironment due to loss of collagen VII. Mol Syst Biol. 2013 Apr 16;9:657.全文  摘要

32. Martins VL, Caley MP, Moore K, et al. Suppression of TGFβ and angiogenesis by type VII collagen in cutaneous SCC. J Natl Cancer Inst. 2015 Oct 16;108(1):djv293.全文  摘要

33. Purdie KJ, Pourreyron C, Fassihi H, et al. No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. J Invest Dermatol. 2010;130:2853-2855.全文  摘要

34. Hashimoto K, Matsumoto M, Iacobelli D. Transient bullous dermolysis of the newborn. Arch Dermatol. 1985;121:1429-1438. 摘要

35. Fine JD, Osment LS, Gay S. Dystrophic epidermolysis bullosa. A new variant characterized by progressive symmetrical centripetal involvement with scarring. Arch Dermatol. 1985;121:1014-1017. 摘要

36. Has C, Liu L, Bolling MC, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020 Mar;182(3):574-92.全文  摘要

37. Fine JD, Smith LT. Non-molecular diagnostic testing of inherited epidermolysis bullosa: current techniques, major findings, and relative sensitivity and specificity. In: Fine JD, Bauer EA, McGuire J, et al, eds. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Baltimore, MD: Johns Hopkins University Press; 1999:48-78.

38. Fine JD, Johnson LB, Suchindran C, et al. Cutaneous and skin-associated musculoskeletal manifestations of inherited EB: the National Epidermolysis Bullosa Registry experience. In: Fine JD, Bauer EA, McGuire J, et al, eds. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Baltimore, MD: Johns Hopkins University Press; 1999:114-146.

39. Fine JD, Johnson LB, Suchindran C, et al. Extracutaneous features of inherited EB: the National Epidermolysis Bullosa Registry experience. In: Fine JD, Bauer EA, McGuire J, et al, eds. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Baltimore, MD: Johns Hopkins University Press; 1999:147-174.

40. Fine JD, Johnson LB, Weiner M, et al. Pseudosyndactyly and musculoskeletal contractures in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry, 1986-2002. J Hand Surg (Br). 2005;30:14-22. 摘要

41. Wright JT, Fine JD, Johnson L. Hereditary epidermolysis bullosa: oral manifestations and dental management. Pediatr Dent. 1993;15:242-248. 摘要

42. Fine JD, Johnson LB, Weiner M, et al. Tracheolaryngeal complications of inherited epidermolysis bullosa. Laryngoscope. 2007 Sep;117(9):1652-60. 摘要

43. Bolling MC, Jonkman MF. KLHL24: Beyond skin fragility. J Invest Dermatol. 2019 Jan;139(1):22-4. 摘要

44. Yenamandra VK, van den Akker PC, Lemmink HH, et al. Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24. Br J Dermatol. 2018 Aug 14;179(5):1181-1183.全文  摘要

45. Fine JD, Horiguchi Y, Stein DH, et al. Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa. J Am Acad Dermatol. 1990;22:188-195. 摘要

46. Fine JD, Johnson LB, Cronce D, et al. Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity. J Invest Dermatol. 1993;101:232-236. 摘要

47. Bart BJ, Gorlin RJ, Anderson VE, et al. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol. 1966;93:296-304. 摘要

48. Has C, El Hachem M, Bučková H, et al. Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for rare skin diseases. J Eur Acad Dermatol Venereol. 2021 Dec;35(12):2349-60.全文  摘要

49. Wounds International. Best practice guidelines: skin and wound care in epidermolysis bullosa​. 2017 [internet publication].全文

50. Pope E, Lara-Corrales I, Mellerio J, et al. A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol. 2012;67:904-917.全文  摘要

51. Yerlett N, Loizou A, Bageta M, et al. Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 2022 Jul;47(7):1307-13. 摘要

52. Greenblatt DT, Hubbard L, Bloor C, et al. Vitamin C concentrations in patients with epidermolysis bullosa. Br J Dermatol. 2022 Nov;187(5):808-10. 摘要

53. DEBRA International. Preventative nutritional care guideline constipation management for children and adults with epidermolysis bullosa (EB). 2020 [internet publication].​全文

54. Weiner M, Stein A, Cash S, et al. Tetracycline and epidermolysis bullosa simplex: a double-blind, placebo-controlled, crossover randomized clinical trial. Br J Dermatol. 2004;150:613-614. 摘要

55. Younger IR, Priestley GC, Tidman MJ. Aluminum chloride hexahydrate and blistering in epidermolysis bullosa simplex. J Am Acad Dermatol. 1990;23:930-931. 摘要

56. Chan JM, Weisman A, King A, et al. Occupational therapy for epidermolysis bullosa: clinical practice guidelines. Orphanet J Rare Dis. 2019 Jun 7;14(1):129.全文  摘要

57. Weisman A, Chan JM, LaPointe C, et al. Physiotherapy for epidermolysis bullosa: clinical practice guidelines. Orphanet J Rare Dis. 2021 Sep 30;16(1):406.全文  摘要

58. Martin K, Geuens S, Asche JK, et al. Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines. Orphanet J Rare Dis. 2019 Jun 11;14(1):133.全文  摘要

59. Atar M, Körperich EJ. Systemic disorders and their influence on the development of dental hard tissues: a literature review. J Dent. 2010;38:296-306. 摘要

60. Krämer S, Lucas J, Gamboa F, et al. Clinical practice guidelines: oral health care for children and adults living with epidermolysis bullosa. Spec Care Dentist. 2020 Nov;40 Suppl 1(suppl 1):3-81.全文  摘要

61. Mellerio JE, El Hachem M, Bellon N, et al. Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European Reference Network for rare skin diseases. Orphanet J Rare Dis. 2020 Jun 6;15(1):142.全文  摘要

62. Mellerio JE, Robertson SJ, Bernardis C, et al. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. Br J Dermatol. 2016;174:56-67.全文  摘要

63. Greenblatt DT, Pillay E, Snelson K, et al. Recommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus-based guideline. Br J Dermatol. 2022 Apr;186(4):620-32.全文  摘要

64. Fine JD, Johnson LB, Weiner M, et al. Gastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National Epidermolysis Bullosa Registry. J Pediatr Gastroenterol Nutr. 2008 Feb;46(2):147-58.全文  摘要

65. Fine JD, Johnson LB, Weiner M, et al. Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr. 2008 Feb;152(2):276-80. 摘要

66. Guide SV, Gonzalez ME, Bağcı IS, et al. Trial of beremagene geperpavec (B-VEC) for dystrophic epidermolysis bullosa. N Engl J Med. 2022 Dec 15;387(24):2211-9.全文  摘要

67. Kern JS, Sprecher E, Fernandez MF, et al. Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study. Br J Dermatol. 2023 Jan 23;188(1):12-21.全文  摘要

68. Mavilio F, Pellegrini G, Ferrari S, et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med. 2006;12:1397-1402. 摘要

69. Hirsch T, Rothoeft T, Teig N, et al. Regeneration of the entire human epidermis using transgenic stem cells. Nature. 2017 Nov 8;551(7680):327-332. 摘要

70. ClinicalTrials.gov. Clinical trial NCT01263379. Gene transfer for recessive dystrophic epidermolysis bullosa. October 2010.全文

71. Wagner JE, Ishida-Yamamoto A, McGrath JA, et al. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med. 2010;363:629-639. 摘要

72. Uitto J. Regenerative medicine for skin diseases: iPS cells to the rescue. J Invest Dermatol. 2011;131:812-814. 摘要

73. Tolar J, Xia L, Riddle MJ, et al. Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2011;131:848-856. 摘要

74. Petrova A, Ilic D, McGrath JA. Stem cell therapies for recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2010;163:1149-1156. 摘要

75. Itoh M, Kiuri M, Cairo MS, et al. Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proc Natl Acad Sci USA. 2011;108:8797-8802.全文  摘要

76. Fine JD. Inherited epidermolysis bullosa: recent basic and clinical advances. Curr Opin Pediatr. 2010;22:453-458. 摘要

77. EU Clinical Trials Register. Clinical trial 2015-003670-32. A dual-center prospective phase I/II trial to establish safety, tolerability and to obtain first data on efficacy of losartan in children with recessive dystrophic epidermolysis bullosa (RDEB). Aug 2017.全文

78. Khaddour K, Gorell ES, Dehdashti F, et al. Induced remission of metastatic squamous cell carcinoma with an immune checkpoint inhibitor in a patient with recessive dystrophic epidermolysis bullosa. Case Rep Oncol. 2020 Jul 30;13(2):911-5.全文  摘要

79. Duong T, Wong D, Barrett A, et al. Successful use of immunotherapy to treat advanced cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa. BMJ Case Rep. 2021 Feb 26;14(2):e238966. 摘要

80. Atanasova VS, Pourreyron C, Farshchian M, et al. Identification of rigosertib for the treatment of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. Clin Cancer Res. 2019 Jun 1;25(11):3384-91.全文  摘要

81. ClinicalTrials.gov. Rigosertib in patients with recessive dystrophic epidermolysis bullosa associated SCC. ClinicalTrials.gov Identifier: NCT04177498. Sep 2022 [internet publication].全文

82. Castela E, Tulic MK, Rozières A, et al. Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment. Br J Dermatol. 2019 Feb;180(2):357-64. 摘要

83. Clawson RC, Duran SF, Pariser RJ. Epidermolysis bullosa pruriginosa responding to dupilumab. JAAD Case Rep. 2021 Aug 18;16:69-71.全文  摘要

84. Fine JD, Johnson LB, Weiner M, et al. Inherited epidermolysis bullosa and the risk of death from renal disease: experience of the National Epidermolysis Bullosa Registry. Am J Kidney Dis. 2004;44:651-660. 摘要

85. Fine JD, Johnson LB, Weiner M, et al. Inherited epidermolysis bullosa (EB) and the risk of life-threatening skin-derived cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol. 2009 Feb;60(2):203-11. 摘要

86. Fine JD, Johnson LB, Weiner M, et al. Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry. Am J Ophthalmol. 2004;138:254-262. 摘要

87. Melville C, Atherton D, Burch M, et al. Fatal cardiomyopathy in dystrophic epidermolysis bullosa. Br J Dermatol. 1996;135:603-606. 摘要

88. Fine JD, Hall M, Weiner M, et al. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol. 2008;159:677-682.全文  摘要

89. Fine JD, Johnson LB, Weiner M, et al. Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status, and family size. Br J Dermatol. 2005;152:1009-1014. 摘要

90. Berger TG, Detlefs RL, Donatucci CF. Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. Pediatr Dermatol. 1986;3:130-134. 摘要

91. Fine JD, Johnson B, Weiner M, et al. Genitourinary complications of inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry and review of the literature. J Urol. 2004;172:2040-2044. 摘要