Epidermolysis bullosa

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.Full text  Abstract

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. Abstract

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. 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.Full text  Abstract

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. Abstract

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. Abstract

6. Kiritsi D, Nyström A. Recent advances in understanding and managing epidermolysis bullosa. F1000Res. 2018 Jul 17;7: F1000 Faculty Rev-1097.Full text  Abstract

7. 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;42:1051-1066. Abstract

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. Abstract

9. Jonkman MF, Pasmooij AM, Pasmans SG, et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet. 2005;77:653-660.Full text  Abstract

10. Kiritsi D, Cosgarea I, Franzke CW, et al. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J Invest Dermatol. 2010;130:1741-1746. Abstract

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. Abstract

12. Fine JD, Johnson L, Wright T. Epidermolysis bullosa simplex superficialis: a new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. Arch Dermatol. 1989;125:633-638. Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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

19. 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. Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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

24. 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. Abstract

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. Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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

30. 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. Abstract

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. Abstract

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.Full text  Abstract

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

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. Abstract

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.

37. 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.

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. Abstract

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

40. Fine JD, Johnson LB, Weiner M, et al. Tracheolaryngeal complications of inherited epidermolysis bullosa. Laryngoscope. 2007;117:1652-1660. Abstract

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

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.Full text  Abstract

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. Abstract

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. Abstract

45. 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. Abstract

46. 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.Full text  Abstract

47. 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. Abstract

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

49. 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. Abstract

50. 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.Full text  Abstract

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. Abstract

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. Abstract

53. 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. Abstract

54. 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. Abstract

55. 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. Abstract

56. 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. Abstract

57. 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. Abstract

58. ClinicalTrials.gov. Clinical trial NCT01263379. Gene transfer for recessive dystrophic epidermolysis bullosa. October 2010.Full text

59. 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. Abstract

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

61. 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. Abstract

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

63. 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.Full text  Abstract

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

65. 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.Full text  Abstract

66. 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. Abstract

67. 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].Full text

68. 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. Abstract

69. 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.Full text

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

71. 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.Full text

72. 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. Abstract

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

74. Fine JD, Hall M, Weiner M, et al. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol. 2008;159:677-682.Full text  Abstract

75. 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. Abstract

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

77. 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. Abstract