Update on diagnosis and therapy of inherited epidermolysis bullosa

References

• Jobard F, Bouadjar B, Caux F et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum. Mol. Genet.12(8), 925–935 (2003).
   PubMed Web of Science ®Google Scholar
• Jonkman MF, Pasmooij AM, Pasmans SG et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am. J. Hum. Genet.77(4), 653–660 (2005).
   PubMed Web of Science ®Google Scholar
• McLean WH, Irvine AD, Hamill KJ et al. An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum. Mol. Genet.12(18), 2395–2409 (2003).
   PubMed Web of Science ®Google Scholar
• McGrath JA. A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes. J. Dermatol.26(11), 764–769 (1999).
   PubMedGoogle Scholar
• 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.58(6), 931–950 (2008).
   PubMed Web of Science ®Google Scholar
• Aumailley M, Has C, Tunggal L, Bruckner-Tuderman L. Molecular basis of inherited skin-blistering disorders, and therapeutic implications. Expert Rev. Mol. Med.8(24), 1–21 (2006).
   PubMedGoogle Scholar
• Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J. Med. Genet.43(8), 641–652 (2006).
   PubMed Web of Science ®Google Scholar
• 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.44(3), 181–192 (2007).
   PubMed Web of Science ®Google Scholar
• 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.73(1), 174–187 (2003).
   PubMed Web of Science ®Google Scholar
• Has C, Bruckner-Tuderman L. Molecular and diagnostic aspects of genetic skin fragility. J. Dermatol. Sci.44(3), 129–144 (2006).
   PubMed Web of Science ®Google Scholar
• Yiasemides E, Walton J, Marr P, Villanueva EV, Murrell DF. A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa. Am. J. Dermatopathol.28(5), 387–394 (2006).
   PubMed Web of Science ®Google Scholar
• 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.51(1), 58–61 (2008).
   PubMed Web of Science ®Google Scholar
• Fassihi H, Lu L, Wessagowit V et al. Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J. Invest. Dermatol.126(9), 2039–2043 (2006).
   PubMed Web of Science ®Google Scholar
• Nakamura H, Sawamura D, Goto M et al. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J. Mol. Diagn.7(1), 28–35 (2005).
   PubMed Web of Science ®Google Scholar
• Has C, Yordanova I, Balabanova M et al. A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. J. Dermatol. Sci.52(3), 209–212 (2008).
   PubMed Web of Science ®Google Scholar
• 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.126(8), 1776–1783 (2006).
   PubMed Web of Science ®Google Scholar
• Huber M, Floeth M, Borradori L et al. Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex. J. Invest. Dermatol.118(1), 185–192 (2002).
   PubMed Web of Science ®Google Scholar
• Titeux M, Mejia JE, Mejlumian L et al. Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing. Hum. Mutat.27(3), 291–292 (2006).
   PubMedGoogle Scholar
• Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp. Dermatol.17(7), 553–568 (2008).
   PubMed Web of Science ®Google Scholar
• Dang N, Klingberg S, Marr P, Murrell DF. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. J. Dermatol. Sci.46(3), 169–178 (2007).
   PubMed Web of Science ®Google Scholar
• Schumann H, Has C, Kohlhase J, Bruckner-Tuderman L. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br. J. Dermatol.159(2), 464–469 (2008).
   PubMed Web of Science ®Google Scholar
• Mallipeddi R, Bleck O, Mellerio JE, Ashton GH, Eady RA, McGrath JA. Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa. Br. J. Dermatol.149(4), 810–818 (2003).
   PubMed Web of Science ®Google Scholar
• Shimizu H, Hammami-Hauasli N, Hatta N, Nishikawa T, Bruckner-Tuderman L. Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. J. Invest. Dermatol.113(3), 419–421 (1999).
   PubMed Web of Science ®Google Scholar
• McGrath JA, McMillan JR, Shemanko CS et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat. Genet.17(2), 240–244 (1997).
   PubMed Web of Science ®Google Scholar
• Wessagowit V, McGrath JA. Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. Acta Derm. Venereol.85(5), 386–388 (2005).
   PubMed Web of Science ®Google Scholar
• Pfendner EG, Sadowski SG, Uitto J. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. J. Invest. Dermatol.125(2), 239–243 (2005).
   PubMed Web of Science ®Google Scholar
• Abu Sa’d J, Indelman M, Pfendner E et al. Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J. Invest. Dermatol.126(4), 777–781 (2006).
   PubMed Web of Science ®Google Scholar
• Pfendner E, Rouan F, Uitto J. Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Exp. Dermatol.14(4), 241–249 (2005).
   PubMed Web of Science ®Google Scholar
• Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J. Invest. Dermatol.124(1), 111–115 (2005).
   PubMed Web of Science ®Google Scholar
• Koss-Harnes D, Hoyheim 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.118(1), 87–93 (2002).
   PubMed Web of Science ®Google Scholar
• Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA. α6β4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Br. J. Dermatol.144(2), 408–414 (2001).
   PubMed Web of Science ®Google Scholar
• Dang N, Klingberg S, Rubin AI et al. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGβ4 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.88(5), 438–448 (2008).
   PubMed Web of Science ®Google Scholar
• Jonkman MF, Pas HH, Nijenhuis M, Kloosterhuis G, Steege G. Deletion of a cytoplasmic domain of integrin β4 causes epidermolysis bullosa simplex. J. Invest. Dermatol.119(6), 1275–1281 (2002).
   PubMed Web of Science ®Google Scholar
• Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS, Carmi R. Deletion of the first pair of fibronectin type III repeats of the integrin β4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. Am. J. Med. Genet. A146(8), 1063–1066 (2008).
   Google Scholar
• Strauss RM, Bate J, Nischal KK et al. A child with laryngo-onychocutaneous syndrome partially responsive to treatment with thalidomide. Br. J. Dermatol.155(6), 1283–1286 (2006).
   PubMed Web of Science ®Google Scholar
• Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C. Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype–phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J. Invest. Dermatol.126(5), 1006–1012 (2006).
   PubMed Web of Science ®Google Scholar
• Mallipeddi R. Epidermolysis bullosa and cancer. Clin. Exp. Dermatol.27(8), 616–623 (2002).
   PubMed Web of Science ®Google Scholar
• Christiano AM, Lee JY, Chen WJ, LaForgia S, Uitto J. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Hum. Mol. Genet.4(9), 1579–1583 (1995).
   PubMed Web of Science ®Google Scholar
• Gardella R, Castiglia D, Posteraro P et al. Genotype–phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J. Invest. Dermatol.119(6), 1456–1462 (2002).
   PubMed Web of Science ®Google Scholar
• Csikos M, Szocs HI, Laszik A et al. High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. Br. J. Dermatol.152(5), 879–886 (2005).
   PubMed Web of Science ®Google Scholar
• Kern JS, Herz C, Haan E et al. Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms. J. Pathol.213(4), 462–470 (2007).
   PubMed Web of Science ®Google Scholar
• Arita K, Wessagowit V, Inamadar AC et al. Unusual molecular findings in Kindler syndrome. Br. J. Dermatol.157(6), 1252–1256 (2007).
   PubMed Web of Science ®Google Scholar
• Lai-Cheong JE, Liu L, Sethuraman G et al. Five new homozygous mutations in the KIND1 gene in Kindler syndrome. J. Invest. Dermatol.127(9), 2268–2270 (2007).
   PubMed Web of Science ®Google Scholar
• Ortiz-Urda S, Thyagarajan B, Keene DR et al. Stable nonviral genetic correction of inherited human skin disease. Nat. Med.8(10), 1166–1170 (2002).
   PubMed Web of Science ®Google Scholar
• Chen M, Kasahara N, Keene DR et al. Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa. Nat. Genet.32(4), 670–675 (2002).
   PubMed Web of Science ®Google Scholar
• Ortiz-Urda S, Lin Q, Green CL, Keene DR, Marinkovich MP, Khavari PA. Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue. J. Clin. Invest.111(2), 251–255 (2003).
   PubMed Web of Science ®Google Scholar
• Woodley DT, Krueger GG, Jorgensen CM et al. Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone. J. Invest. Dermatol.121(5), 1021–1028 (2003).
   PubMed Web of Science ®Google Scholar
• Woodley DT, Keene DR, Atha T et al. Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo. Mol. Ther.10(2), 318–326 (2004).
   PubMed Web of Science ®Google Scholar
• Goto M, Sawamura D, Ito K et al. Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa. J. Invest. Dermatol.126(4), 766–772 (2006).
   PubMed Web of Science ®Google Scholar
• Meneguzzi G, Pin D, Carozzo C, Gache Y. Successful ex vivo gene therapy of recessive DEB. J. Invest. Dermatol.128(Suppl. 1), S124 (2008).
   Google Scholar
• Muhle C, Neuner A, Park J et al. Evaluation of prenatal intra-amniotic LAMB3 gene delivery in a mouse model of Herlitz disease. Gene Ther.13(23), 1665–1676 (2006).
   PubMed Web of Science ®Google Scholar
• Woodley DT, Keene DR, Atha T et al. Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. Nat. Med.10(7), 693–695 (2004).
   PubMed Web of Science ®Google Scholar
• 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.118(5), 1669–1679 (2008).
   PubMed Web of Science ®Google Scholar
• Fathke C, Wilson L, Hutter J et al. Contribution of bone marrow-derived cells to skin: collagen deposition and wound repair. Stem Cells22(5), 812–822 (2004).
   PubMed Web of Science ®Google Scholar
• Heinonen S, Mannikko M, Klement JF, Whitaker-Menezes D, Murphy GF, Uitto J. Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J. Cell Sci.112(Pt 21), 3641–3648 (1999).
   PubMed Web of Science ®Google Scholar
• Tolar J, Ishida-Yamamoto A, McElmurry RT et al. Correction of the skin defect in murine recessive dystrophic epidermolysis bullosa by SLAM family receptor enriched hematopoietic stem cells. J. Invest. Dermatol.128(Suppl. 1), S122 (2008).
   Google Scholar
• Woodley D, Wang X, Zhou H, Wu T, Muirhead T, Chen M. Bone marrow stem cells improve the survivability of RDEB mice but do not correct the fundamental type VII collagen defect. J. Invest. Dermatol.128(Suppl. 1), S126 (2008).
   Google Scholar
• Chino T, Tamai K, Yamazaki T et al. Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance. Am. J. Pathol.173(3), 803–814 (2008).
   PubMed Web of Science ®Google Scholar
• Fujita Y, Abe R, Inokuma D et al. Bone marrow transplantation restores deficient epidermal basement membrane protein and improves the clinical phenotype in epidermolysis bullosa model mice. J. Invest. Dermatol.128(Suppl. 1), S114 (2008).
   Google Scholar
• Mavilio F, Pellegrini G, Ferrari S et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat. Med.12(12), 1397–1402 (2006).
   PubMed Web of Science ®Google Scholar
• Hacein-Bey-Abina S, Von Kalle C, Schmidt M et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science302(5644), 415–419 (2003).
   PubMed Web of Science ®Google Scholar
• Cavazzana-Calvo M, Fischer A. Gene therapy for severe combined immunodeficiency: are we there yet? J. Clin. Invest.117(6), 1456–1465 (2007).
   PubMed Web of Science ®Google Scholar
• Thrasher A. Case of leukaemia associated with SCID-X1 gene therapy trial in London. Hum. Gene Ther.19(1), 3–4 (2008).
   PubMed Web of Science ®Google Scholar
• Aiuti A, Cassani B, Andolfi G et al. Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy. J. Clin. Invest.117(8), 2233–2240 (2007).
   PubMed Web of Science ®Google Scholar
• Bonini C, Grez M, Traversari C et al. Safety of retroviral gene marking with a truncated NGF receptor. Nat. Med.9(4), 367–369 (2003).
   PubMed Web of Science ®Google Scholar
• Montini E, Cesana D, Schmidt M et al. Hematopoietic stem cell gene transfer in a tumor-prone mouse model uncovers low genotoxicity of lentiviral vector integration. Nat. Biotechnol.24(6), 687–696 (2006).
   PubMed Web of Science ®Google Scholar
• Di Nunzio F, Maruggi G, Ferrari S et al. Correction of laminin-5 deficiency in human epidermal stem cells by transcriptionally targeted lentiviral vectors. Mol. Ther. DOI: 10.1038/mt.2008.204 (2008) (Epub ahead of print).
   PubMedGoogle Scholar
• Kopp J, Horch RE, Stachel KD et al. Hematopoietic stem cell transplantation and subsequent 80% skin exchange by grafts from the same donor in a patient with Herlitz disease. Transplantation79(2), 255–256 (2005).
   PubMed Web of Science ®Google Scholar
• Wong T, Gammon L, Liu L et al. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J. Invest. Dermatol.128(9), 2179–2189 (2008).
   PubMed Web of Science ®Google Scholar
• Gostynski A, Devieane FC, Pasmooij AM, Pas HH, Jonkman MF. Adhesive stripping to remove epidermis in junctional epidermolysis bullosa (JEB) for revertant cell therapy. J. Invest. Dermatol.128(Suppl. 1), S116 (2008).
   Google Scholar
• Uitto J. Epidermolysis bullosa: prospects for cell-based therapies. J. Invest. Dermatol.128(9), 2140–2142 (2008).
   PubMed Web of Science ®Google Scholar