大疱性表皮松解症

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Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103-1126.全文  摘要

Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. Am Acad Derm. 2008;58:931-950. 摘要

参考文献

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2. Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103-1126.全文  摘要

3. Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. Am Acad Derm. 2008;58:931-950. 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.

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8. McGrath JA, McMillan JR, Shemano CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. 1997;17:240-244. 摘要

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11. Krunic AL, Stone KL, Simpson MA, et al. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. 摘要

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13. 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 Oct 31;48(12):1508-1516. 摘要

14. 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 Nov 23;99(6):1395-1404.全文  摘要

15. 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; 1999:280-299.

16. 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;130:1551-1557.全文  摘要

17. 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

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20. 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

21. 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

22. 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

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

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25. 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

26. 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

27. 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

28. 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

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

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31. 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

32. 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

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

34. 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

35. 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.

36. 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.

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38. 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

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

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42. 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

43. 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

44. 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

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51. Fine JD, Johnson LB, Weiner M, et al. Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr. 2008;152:276-280. 摘要

52. 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;46:147-158. 摘要

53. Fine JD. Epidermolysis bullosa: a genetic disease of altered cell adhesion and wound healing, and the possible clinical utility of topically applied thymosin beta4. Ann NY Acad Sci. 2007;1112:396-406. 摘要

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61. 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

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

63. El-Hashim AZ, Renno WM, Raghupathy R, et al. Angiotensin-(1-7) inhibits allergic inflammation, via the MAS1 receptor, through suppression of ERK1/2- and NF-κB-dependent pathways. Br J Pharmacol. 2012 Jul;166(6):1964-76.全文  摘要

64. Benter IF, Yousif MH, Dhaunsi GS, et al. Angiotensin-(1-7) prevents activation of NADPH oxidase and renal vascular dysfunction in diabetic hypertensive rats. Am J Nephrol. 2007 Sep 20;28(1):25-33. 摘要

65. ClinicalTrials.gov. Clinical trial NCT03154333. Safety and efficacy of diacerein 1% ointment topical formulation compared to placebo for subjects with epidermolysis bullosa simplex (EBS). Oct 2018 [internet publication].全文

66. 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;60:203-211. 摘要

67. Nastke M-D, Gaur N, Dowal L, et al. Abstract 1680: BPM31510, an anti-cancer agent selectively causes activation and proliferation of T cells, demonstrating potential utility in an immune-oncology setting [abstract]. Cancer Res 2017 Jul 1;77(13) 1680.全文

68. ClinicalTrials.gov. Clinical trial NCT02793960. Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa. Jan 2019 [internet publication].全文

69. 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

70. 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

71. 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

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

73. 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

74. 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

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

76. 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

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