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Epidemiology, pathogenesis, classification, and clinical features of epidermolysis bullosa

Martin Laimer, MD
Johann Bauer, MD
Dedee F Murrell, MD
Section Editor
Jonathan A Dyer, MD
Deputy Editor
Rosamaria Corona, MD, DSc


Epidermolysis bullosa (EB) encompasses a clinically and genetically heterogeneous group of rare inherited disorders characterized by marked mechanical fragility of epithelial tissues with blistering and erosions following minor trauma.

EB is caused by mutations involving at least 18 genes encoding structural proteins within keratin intermediate filaments, focal adhesions, desmosome cell junctions, and hemidesmosome attachment complexes, which form the intraepidermal adhesion and dermoepidermal anchoring complex within the basement membrane zone (BMZ) of the skin and mucosae (figure 1) [1-3]. Along with the index mutation, a host of other genes involved in the maintenance and function of this microenvironment may be differentially regulated, thereby contributing to the phenotype [4,5]. The integrity of the BMZ, which is a highly specialized interface between epithelial cells and the underlying matrix, is crucial for cell adhesion, proliferation, and differentiation; tissue repair; and barrier function [3].

The epidemiology, pathogenesis, and clinical features of EB are discussed in this topic. The diagnosis and management of EB are discussed separately. (See "Diagnosis of epidermolysis bullosa" and "Overview of the management of epidermolysis bullosa".)


The most reliable figures on prevalence and incidence of epidermolysis bullosa (EB) are derived from the National EB Registry (NEBR), which collected cross-sectional and longitudinal data on about 3300 EB patients in the United States from 1986 through 2002 [6,7]. Over a five-year period (1986 through 1990), the prevalence of EB was estimated to be approximately 8 per million and the incidence 19 per million live births. Over the same period, the incidence rates of EB by subtype were approximately 11 per million live births for EB simplex; 2 per million live births for junctional EB; 3 per million live births for dominant dystrophic EB; and 2 per million live births for recessive dystrophic EB. Data from the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) report an incidence rate of 3.6 per million per year for junctional EB over the period 2007 to 2011 [8]. Data from the Australasian EB Registry provided a prevalence estimate of 10 cases per million live births [9]. Prevalence rates ranging from 15 to 32 cases per million have been estimated in the UK [10-12].


In 2013, a revised nomenclature and classification system of EB have been proposed [13]. The new classification includes the new clinical phenotypes and gene mutations that have been described since the 2008 consensus classification [1].


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Literature review current through: Apr 2016. | This topic last updated: Mar 10, 2015.
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  1. 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. J Am Acad Dermatol 2008; 58:931.
  2. Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012. J Invest Dermatol 2013; 133:2121.
  3. Uitto J, Richard G. Progress in epidermolysis bullosa: genetic classification and clinical implications. Am J Med Genet C Semin Med Genet 2004; 131C:61.
  4. Di Salvio M, Piccinni E, Di Zenzo G, et al. Diverse TGF-beta signalling activation in fibroblasts from phenotypically discordant monozygotic twins with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2012; 132:S90.
  5. Küttner V, Mack C, Rigbolt KT, et al. Global remodelling of cellular microenvironment due to loss of collagen VII. Mol Syst Biol 2013; 9:657.
  6. Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis 2010; 5:12.
  7. Fine JD, Johnson LB, Suchindran C, et al. The National Epidermolysis bullosa registry. In: Epidermolysis bullosa: Clinical, epidemiologic, and laboratory findings of the National Epidermolysis Bullosa Registry, Fine JD, Bauer EA, McGuire J, Moshell A (Eds), The Johns Hopkins University Press, Baltimore 1999.
  8. Kelly-Mancuso G, Kopelan B, Azizkhan RG, Lucky AW. Junctional epidermolysis bullosa incidence and survival: 5-year experience of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) nurse educator, 2007 to 2011. Pediatr Dermatol 2014; 31:159.
  9. Kho YC, Rhodes LM, Robertson SJ, et al. Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa. Arch Dermatol 2010; 146:635.
  10. McKenna KE, Walsh MY, Bingham EA. Epidermolysis bullosa in Northern Ireland. Br J Dermatol 1992; 127:318.
  11. Browne F, Heagerty AHM, Martinez A, et al. The epidemiology of epidermolysis bullosa in the U.K.: A 9-year study. Br J Dermatol 2011; 165 (Suppl 1):8.
  12. Horn HM, Priestley GC, Eady RA, Tidman MJ. The prevalence of epidermolysis bullosa in Scotland. Br J Dermatol 1997; 136:560.
  13. 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.
  14. Abu Sa'd J, Indelman M, Pfendner E, et al. Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol 2006; 126:777.
  15. Has C, Spartà G, Kiritsi D, et al. Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med 2012; 366:1508.
  16. Ciubotaru D, Bergman R, Baty D, et al. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol 2003; 139:498.
  17. Groves RW, Liu L, Dopping-Hepenstal PJ, 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.
  18. García M, Santiago JL, Terrón A, et al. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. Br J Dermatol 2011; 165:683.
  19. Pigors M, Kiritsi D, Krümpelmann S, et al. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet 2011; 20:1811.
  20. Lane EB, McLean WH. Keratins and skin disorders. J Pathol 2004; 204:355.
  21. Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, et al. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. J Invest Dermatol 1999; 112:184.
  22. Kang TW, Lee JS, Kim SE, et al. Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex. J Dermatol Sci 2010; 57:90.
  23. Rugg EL, Horn HM, Smith FJ, et al. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. J Invest Dermatol 2007; 127:574.
  24. Müller FB, Küster W, Wodecki K, et al. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. Hum Mutat 2006; 27:719.
  25. Werner NS, Windoffer R, Strnad P, et al. Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits. Mol Biol Cell 2004; 15:990.
  26. Bauer JW, Rouan F, Kofler B, et al. A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. Am J Pathol 2001; 158:617.
  27. Cummins RE, Klingberg S, Wesley J, et al. Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. J Invest Dermatol 2001; 117:1103.
  28. McMillan JR, Akiyama M, Rouan F, et al. Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. Muscle Nerve 2007; 35:24.
  29. Schara U, Tücke J, Mortier W, et al. Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. Eur J Pediatr 2004; 163:218.
  30. 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.
  31. Charlesworth A, Gagnoux-Palacios L, Bonduelle M, et al. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. J Invest Dermatol 2003; 121:1344.
  32. Jonkman MF, Pasmooij AM, Pasmans SG, et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 2005; 77:653.
  33. South AP. Plakophilin 1: an important stabilizer of desmosomes. Clin Exp Dermatol 2004; 29:161.
  34. Sprecher E, Molho-Pessach V, Ingber A, et al. Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol 2004; 122:647.
  35. Whittock NV, Haftek M, Angoulvant N, et al. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 2000; 115:368.
  36. McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17:240.
  37. Vahlquist A, Virtanen M, Hellström-Pigg M, et al. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations. Clin Exp Dermatol 2014; 39:30.
  38. Smith FJ, Wilson NJ, Moss C, et al. Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair. Br J Dermatol 2012; 166:894.
  39. McGrath JA, Mellerio JE. Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin 2010; 28:125.
  40. Boyce AE, McGrath JA, Techanukul T, et al. Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. Australas J Dermatol 2012; 53:61.
  41. Sprecher E. Epidermolysis bullosa simplex. Dermatol Clin 2010; 28:23.
  42. Lu W, Miyazaki K, Mizushima H, Nemoto N. Immunohistochemical distribution of laminin-5 gamma2 chain and its developmental change in human embryonic and foetal tissues. Histochem J 2001; 33:629.
  43. Miosge N, Kluge JG, Studzinski A, et al. In situ-RT-PCR and immunohistochemistry for the localisation of the mRNA of the alpha 3 chain of laminin and laminin-5 during human organogenesis. Anat Embryol (Berl) 2002; 205:355.
  44. Tuori A, Uusitalo H, Burgeson RE, et al. The immunohistochemical composition of the human corneal basement membrane. Cornea 1996; 15:286.
  45. Hamill KJ, Paller AS, Jones JC. Adhesion and migration, the diverse functions of the laminin alpha3 subunit. Dermatol Clin 2010; 28:79.
  46. Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 2006; 43:641.
  47. Kiritsi D, Kern JS, Schumann H, et al. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet 2011; 48:450.
  48. Jonkman MF, Pasmooij AM. Revertant mosaicism--patchwork in the skin. N Engl J Med 2009; 360:1680.
  49. Pasmooij AM, Nijenhuis M, Brander R, Jonkman MF. Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations. J Invest Dermatol 2012; 132:1374.
  50. Jonkman MF, Scheffer H, Stulp R, et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 1997; 88:543.
  51. Pasmooij AM, Pas HH, Deviaene FC, et al. Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am J Hum Genet 2005; 77:727.
  52. Pulkkinen L, Rouan F, Bruckner-Tuderman L, et al. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet 1998; 63:1376.
  53. Schumann H, Kiritsi D, Pigors M, et al. Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations. Br J Dermatol 2013; 169:115.
  54. DiPersio CM, Hodivala-Dilke KM, Jaenisch R, et al. alpha3beta1 Integrin is required for normal development of the epidermal basement membrane. J Cell Biol 1997; 137:729.
  55. McLean WH, Irvine AD, Hamill KJ, et al. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet 2003; 12:2395.
  56. Figueira EC, Crotty A, Challinor CJ, et al. Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. Clin Experiment Ophthalmol 2007; 35:163.
  57. Barzegar M, Mozafari N, Kariminejad A, et al. A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome. Br J Dermatol 2013; 169:1353.
  58. Fassihi H, Wessagowit V, Ashton GH, et al. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol 2005; 30:71.
  59. Natsuga K, Nishie W, Arita K, et al. Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2010; 130:2671.
  60. Castori M, Floriddia G, Pisaneschi E, et al. Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. J Dermatol Sci 2008; 51:58.
  61. Stoevesandt J, Borozdin W, Girschick G, et al. Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene. Klin Padiatr 2012; 224:8.
  62. Laimer M, Lanschuetzer CM, Diem A, Bauer JW. Herlitz junctional epidermolysis bullosa. Dermatol Clin 2010; 28:55.
  63. Wright JT. Oral manifestations in the epidermolysis bullosa spectrum. Dermatol Clin 2010; 28:159.
  64. Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol 2009; 61:367.
  65. Laimer M. Ear, nose and throat complications. In: Life with Epidermolysis Bullosa (EB): Etiology, diagnosis, multidisciplinary care and therapy, Fine JD, Hintner H (Eds), Springer Wien, New York 2008.
  66. Fine JD. Other internal complications. In: Life with Epidermolysis Bullosa (EB): Etiology, diagnosis, multidisciplinary care and therapy, Fine JD, Hintner H (Eds), Springer Wien, New York 2008.
  67. Fine JD, Johnson LB, Weiner M, Suchindran C. Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr 2008; 152:276.
  68. Fine JD. Premature death in EB. In: Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy, Fine JD, Hintner H. (Eds), Springer, New York 2008. p.197.
  69. Fine JD. Squamous cell carcinoma and junctional epidermolysis bullosa. J Am Acad Dermatol 2012; 66:856.
  70. Hashimoto I, Schnyder UW, Anton-Lamprecht I. Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica 1976; 152:72.
  71. Hintner H, Wolff K. Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 1982; 118:375.
  72. Darling TN, Bauer JW, Hintner H, Yancey KB. Generalized atrophic benign epidermolysis bullosa. Adv Dermatol 1997; 13:87.
  73. Jonkman MF, de Jong MC, Heeres K, et al. Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. Arch Dermatol 1996; 132:145.
  74. Yancey KB, Hintner H. Non-herlitz junctional epidermolysis bullosa. Dermatol Clin 2010; 28:67.
  75. Fine JD, Johnson LB, Weiner M, Suchindran C. Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry. Laryngoscope 2007; 117:1652.
  76. Yamada Y, Dekio S, Jidoi J, et al. Epidermolysis bullosa atrophicans generalisata mitis--report of a case with renal dysfunction. J Dermatol 1990; 17:690.
  77. Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 2007; 44:181.
  78. Bruckner-Tuderman L. Dystrophic epidermolysis bullosa: pathogenesis and clinical features. Dermatol Clin 2010; 28:107.
  79. Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008; 17:553.
  80. van den Akker PC, Jonkman MF, Rengaw T, et al. The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat 2011; 32:1100.
  81. COL7A1 homepage.Leiden Open Variation Database (LOVD). grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=COL7A1 (Accessed on November 28, 2012).
  82. COL7A1 gene variants database www.col7.info (Accessed on November 28, 2012).
  83. Christiano AM, Anhalt G, Gibbons S, et al. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 1994; 21:160.
  84. Christiano AM, Greenspan DS, Hoffman GG, et al. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet 1993; 4:62.
  85. van den Akker PC, Mellerio JE, Martinez AE, et al. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. J Med Genet 2011; 48:160.
  86. Chiaverini C, Charlesworth AV, Youssef M, et al. Inversa dystrophic epidermolysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII. J Invest Dermatol 2010; 130:2508.
  87. Fine JD. Musculoskeletal deformities. In: Life with Epidermolysis Bullosa (EB): Etiology, diagnosis, multidisciplinary care and therapy, Fine JD, Hintner H (Eds), Springer Wien, New York 2008.
  88. Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol 2009; 61:387.
  89. Fine JD, Johnson LB, Weiner M, et al. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol 2009; 60:203.
  90. Rizzo C, Anandasabapathy N, Walters RF, et al. Pretibial epidermolysis bullosa. Dermatol Online J 2008; 14:26.
  91. Brick K, Hand JL, Frankel AS, et al. Epidermolysis bullosa pruriginosa: further clarification of the phenotype. Pediatr Dermatol 2012; 29:732.
  92. Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatol Clin 2010; 28:119.
  93. D'Souza MA, Kimble RM, McMillan JR. Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. Dermatol Clin 2010; 28:115.
  94. 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.
  95. Meves A, Stremmel C, Gottschalk K, Fässler R. The Kindlin protein family: new members to the club of focal adhesion proteins. Trends Cell Biol 2009; 19:504.
  96. Lai-Cheong JE, Parsons M, McGrath JA. The role of kindlins in cell biology and relevance to human disease. Int J Biochem Cell Biol 2010; 42:595.
  97. Has C, Wessagowit V, Pascucci M, et al. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol 2006; 126:1776.
  98. Lai-Cheong JE, Tanaka A, Hawche G, et al. Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol 2009; 160:233.
  99. Zhou C, Song S, Zhang J. A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome. Br J Dermatol 2009; 160:1119.
  100. Has C, Yordanova I, Balabanova M, et al. A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. J Dermatol Sci 2008; 52:209.
  101. Lai-Cheong JE, Ussar S, Arita K, et al. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol 2008; 128:2156.
  102. Larjava H, Plow EF, Wu C. Kindlins: essential regulators of integrin signalling and cell-matrix adhesion. EMBO Rep 2008; 9:1203.
  103. Calderwood DA. Talin controls integrin activation. Biochem Soc Trans 2004; 32:434.
  104. Kloeker S, Major MB, Calderwood DA, et al. The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion. J Biol Chem 2004; 279:6824.
  105. Ussar S, Moser M, Widmaier M, et al. Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction. PLoS Genet 2008; 4:e1000289.
  106. Lanschuetzer CM, Muss WH, Emberger M, et al. Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder. J Cutan Pathol 2003; 30:553.
  107. Nofal E, Assaf M, Elmosalamy K. Kindler syndrome: a study of five Egyptian cases with evaluation of severity. Int J Dermatol 2008; 47:658.
  108. Lahn M, Kloeker S, Berry BS. TGF-beta inhibitors for the treatment of cancer. Expert Opin Investig Drugs 2005; 14:629.
  109. Yasukawa K, Sato-Matsumura KC, McMillan J, et al. Exclusion of COL7A1 mutation in Kindler syndrome. J Am Acad Dermatol 2002; 46:447.
  110. Has C, Castiglia D, del Rio M, et al. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat 2011; 32:1204.
  111. Cameli N, Picardo M, Pisani A, et al. Characterization of the nail matrix basement membrane zone: an immunohistochemical study of normal nails and of the nails in Herlitz junctional epidemolysis bullosa. Br J Dermatol 1996; 134:182.
  112. Moss C, Wong A, Davies P. The Birmingham Epidermolysis Bullosa Severity score: development and validation. Br J Dermatol 2009; 160:1057.
  113. Tosti A, de Farias DC, Murrell DF. Nail involvement in epidermolysis bullosa. Dermatol Clin 2010; 28:153.
  114. Dharma B, Moss C, McGrath JA, et al. Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy. Clin Exp Dermatol 2001; 26:93.
  115. Sato-Matsumura KC, Yasukawa K, Tomita Y, Shimizu H. Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. Arch Dermatol 2002; 138:269.
  116. Tosti A, Piraccini BM, Scher RK. Isolated nail dystrophy suggestive of dominant dystrophic epidermolysis bullosa. Pediatr Dermatol 2003; 20:456.
  117. Tosti A, Duque-Estrada B, Murrell DF. Alopecia in epidermolysis bullosa. Dermatol Clin 2010; 28:165.
  118. Tong L, Hodgkins PR, Denyer J, et al. The eye in epidermolysis bullosa. Br J Ophthalmol 1999; 83:323.
  119. 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.
  120. Fine JD, Johnson LB, Weiner M, et al. Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature. J Urol 2004; 172:2040.
  121. Almaani N, Mellerio JE. Genitourinary tract involvement in epidermolysis bullosa. Dermatol Clin 2010; 28:343.
  122. Martinez AE, Allgrove J, Brain C. Growth and pubertal delay in patients with epidermolysis bullosa. Dermatol Clin 2010; 28:357.
  123. Mellerio JE. Infection and colonization in epidermolysis bullosa. Dermatol Clin 2010; 28:267.
  124. South AP, O'Toole EA. Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma. Dermatol Clin 2010; 28:171.
  125. Ng YZ, Pourreyron C, Salas-Alanis JC, et al. Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res 2012; 72:3522.
  126. Fine JD. Malignant melanoma and epidermolysis bullosa simplex. JAMA Dermatol 2013; 149:1148.
  127. Lanschuetzer CM, Laimer M, Nischler E, Hintner H. Epidermolysis bullosa nevi. Dermatol Clin 2010; 28:179.
  128. Bauer JW, Schaeppi H, Kaserer C, et al. Large melanocytic nevi in hereditary epidermolysis bullosa. J Am Acad Dermatol 2001; 44:577.
  129. Grubauer G, Hintner H, Klein G, Fritsch P. [Acquired, surface giant nevus cell nevi in generalized, atrophic, benign epidermolysis bullosa]. Hautarzt 1989; 40:523.
  130. Cash SH, Dever TT, Hyde P, Lee JB. Epidermolysis bullosa nevus: an exception to the clinical and dermoscopic criteria for melanoma. Arch Dermatol 2007; 143:1164.
  131. Gallardo F, Toll A, Malvehy J, et al. Large atypical melanocytic nevi in recessive dystrophic epidermolysis bullosa: clinicopathological, ultrastructural, and dermoscopic study. Pediatr Dermatol 2005; 22:338.
  132. Lanschuetzer CM, Emberger M, Hametner R, et al. Pathogenic mechanisms in epidermolysis bullosa naevi. Acta Derm Venereol 2003; 83:332.
  133. Lanschuetzer CM, Emberger M, Laimer M, et al. Epidermolysis bullosa naevi reveal a distinctive dermoscopic pattern. Br J Dermatol 2005; 153:97.
  134. Hocker TL, Fox MC, Kozlow JH, et al. Malignant melanoma arising in the setting of epidermolysis bullosa simplex: an important distinction from epidermolysis bullosa nevus. JAMA Dermatol 2013; 149:1195.