• 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; 58:93150.
  • 2
    Vidal F, Aberdam D, Miquel C et al. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995; 10:22934.
  • 3
    Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol Clin 2010; 28:4354.
  • 4
    Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2005; 124:11115.
  • 5
    Pulkkinen L, Bruckner-Tuderman L, August C et al. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. Am J Pathol 1998; 152:93541.
  • 6
    Pulkkinen L, Kim DU, Uitto J. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). Am J Pathol 1998; 152:15766.
  • 7
    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; 63:137687.
  • 8
    Mellerio JE, Pulkkinen L, McMillan JR et al. Pyloric atresia–junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. Br J Dermatol 1998; 139:86271.
    Direct Link:
  • 9
    Jonkman MF, Pas HH, Nijenhuis M et al. Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. J Invest Dermatol 2002; 119:127581.
  • 10
    Inoue M, Tamai K, Shimizu H et al. A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia? J Invest Dermatol 2000; 114:10614.
  • 11
    Dang N, Klingberg S, Rubin AI et al. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm Venereol 2008; 88:43848.
  • 12
    Frew JW, Dopping-Hepenstal PJ, McGrath JA. Categorizing immunofluorescence mapping in epidermolysis bullosa with pyloric atresia: use as a broad prognostic indicator. Australas J Dermatol 2010; 51:21214.
  • 13
    Fine JD, Johnson LB, 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; 172:20404.
  • 14
    Burgu B, Duffy PG, Wilcox DT. Single-centre experience of genitourinary complications of epidermolysis bullosa. J Pediatr Urol 2006; 2:5836.
  • 15
    Tamura RN, Rozzo C, Starr L et al. Epithelial integrin alpha 6 beta 4: complete primary structure of alpha 6 and variant forms of beta 4. J Cell Biol 1990; 111:1593604.
  • 16
    Hogervorst F, Kuikman I, von dem Borne AE, Sonnenberg A. Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain. EMBO J 1990; 9:76570.
  • 17
    de Pereda JM, Lillo MP, Sonnenberg A. Structural basis of the interaction between integrin alpha6beta4 and plectin at the hemidesmosomes. EMBO J 2009; 28:118090.
  • 18
    Schumann H, Roth W, Has C et al. Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene. Br J Dermatol 2012; 167:92936.
  • 19
    Has C, Sparta G, Kiritsi D et al. Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 2012; 366:150814.
  • 20
    Konig A, Bruckner-Tuderman L. Transforming growth factor-beta stimulates collagen VII expression by cutaneous cells in vitro. J Cell Biol 1992; 117:67985.
  • 21
    Schumann H, Hammami-Hauasli N, Pulkkinen L et al. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Am J Hum Genet 1997; 60:134453.
  • 22
    Schacke H, Schumann H, Hammami-Hauasli N et al. Two forms of collagen XVII in keratinocytes. A full-length transmembrane protein and a soluble ectodomain. J Biol Chem 1998; 273:2593743.
  • 23
    Yuen WY, Sinke RJ, Jonkman MF. ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations. Br J Dermatol 2013; 168:4324.
  • 24
    Diociaiuti A, Castiglia D, Morini F et al. Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation. Acta Derm Venereol 2013; 93:11618.
  • 25
    Salvestrini C, McGrath JA, Ozoemena L et al. Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. J Pediatr Gastroenterol Nutr 2008; 47:58591.
  • 26
    Bruckner-Tuderman L. Secondary modifiers and the phenotypic variability of junctional epidermolysis bullosa. Acta Derm Venereol 2008; 88:436.