Epidermolysis bullosa

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  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. 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.Full text  Abstract

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.Full text  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. 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. Abstract

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.Full text

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

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. Abstract

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.Full text  Abstract

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. Abstract

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):1395-404.Full text  Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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

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. Abstract

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. Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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

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. Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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

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. Abstract

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.Full text  Abstract

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. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021 ​[internet publication].Full text

39. 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.

40. 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.

41. 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

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

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

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

45. 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

46. 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

47. 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

48. 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

49. 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.Full text  Abstract

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

51. 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

52. 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. Abstract

53. 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. Abstract

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

55. 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

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

57. 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.Full text  Abstract

58. 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.Full text  Abstract

59. 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.Full text  Abstract

60. 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

61. 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.Full text  Abstract

62. 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.Full text  Abstract

63. 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

64. 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.Full text  Abstract

65. 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.Full text  Abstract

66. 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. Abstract

67. 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.Full text  Abstract

68. 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.Full text  Abstract

69. 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

70. 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

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

72. 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

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

74. 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

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

76. 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

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

78. 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

79. 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.Full text  Abstract

80. 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. Abstract

81. 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.Full text  Abstract

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

83. 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. Abstract

84. Clawson RC, Duran SF, Pariser RJ. Epidermolysis bullosa pruriginosa responding to dupilumab. JAAD Case Rep. 2021 Aug 18;16:69-71.Full text  Abstract

85. 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

86. 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. Abstract

87. 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

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

89. 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

90. 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

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

92. 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