Update on diagnosis and therapy of inherited epidermolysis bullosa

Expert Review of Dermatology

Volumn 3, Issue 6, 2008, Pages 721-733

  Kern, Johannes S ^a   Has, Cristina ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Cell therapy; Epidermolysis bullosa; Kindler syndrome; Protein therapy; Skin blistering

Indexed keywords

ADENOVIRUS VECTOR; ALPHA6BETA4 INTEGRIN; COLLAGEN TYPE 17; COLLAGEN TYPE 7; CYTOKERATIN 14; CYTOKERATIN 5; KALININ; LAMININ; LAMININ BETA 3; PLAKOPHILIN; PLECTIN; RETROVIRUS VECTOR; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; BONE MARROW TRANSPLANTATION; BULLOUS SKIN DISEASE; CELL THERAPY; CLINICAL TRIAL; DERMOEPIDERMAL JUNCTION; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; DRUG MECHANISM; DRUG METABOLISM; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA HERLITZ; EPIDERMOLYSIS BULLOSA SIMPLEX; EX VIVO GENE TRANSFER; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IMMUNOFLUORESCENCE; KINDLER SYNDROME; LARYNGO ONYCHO CUTANEOUS SYNDROME; LETHAL ACANTOLYTHIC EPIDERMOLYSIS BULLOSA; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; SENSITIVITY AND SPECIFICITY; SKIN BIOPSY; SKIN FRAGILITY; VIRAL GENE THERAPY;

EID: 68949125697     PISSN: 17469872     EISSN: None     Source Type: Journal    
DOI: 10.1586/17469872.3.6.721     Document Type: Review

References (71)

1. 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).
2. 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).
3. 3a isoform leads to the chronic granulation tissue disorder laryngoonycho-cutaneous syndrome. Hum. Mol. Genet. 12(18), 2395-2409 (2003).
4. McGrath JA. A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes. J. Dermatol. 26(11), 764-769 (1999).
5. 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).
6. 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).
7. 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).
8. 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).
9. 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).
10. Has C, Bruckner-Tuderman L. Molecular and diagnostic aspects of genetic skin fragility. J. Dermatol. Sci. 44(3), 129-144 (2006).
11. 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).
12. 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).
13. 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).
14. 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).
15. 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).
16. 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).
17. 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).
18. 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).
19. Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp. Dermatol. 17(7), 553-568 (2008).
20. 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).
21. 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).
22. 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).
23. 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).
24. 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).
25. 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).
26. 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).
27. 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).
28. Pfendner E, Rouan F, Uitto J. Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Exp. Dermatol. 14(4), 241-249 (2005).
29. Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J. Invest. Dermatol. 124(1), 111-115 (2005).
30. 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).
31. 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Br. J. Dermatol. 144(2), 408-414 (2001).
32. 4 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).
33. 4 causes epidermolysis bullosa simplex. J. Invest. Dermatol. 119(6), 1275-1281 (2002).
34. 4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. Am. J. Med. Genet. A 146(8), 1063-1066 (2008).
35. 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).
36. 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).
37. Mallipeddi R. Epidermolysis bullosa and cancer. Clin. Exp. Dermatol. 27(8), 616-623 (2002).
38. 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).
39. 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).
40. 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).
41. 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).
42. Arita K, Wessagowit V, Inamadar AC et al. Unusual molecular findings in Kindler syndrome. Br. J. Dermatol. 157(6), 1252-1256 (2007).
43. 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).
44. 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).
45. 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).
46. 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).
47. 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).
48. 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).
49. 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).
50. Meneguzzi G, Pin D, Carozzo C, Gache Y. Successful ex vivo gene therapy of recessive DEB. J. Invest. Dermatol. 128(Suppl. 1), S124 (2008).
51. 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).
52. 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).
53. 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).
54. Fathke C, Wilson L, Hutter J et al. Contribution of bone marrow-derived cells to skin: collagen deposition and wound repair. Stem Cells 22(5), 812-822 (2004).
55. 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).
56. 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).
57. 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).
58. 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).
59. 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).
60. 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).
61. 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. Science 302(5644), 415-419 (2003).
62. Cavazzana-Calvo M, Fischer A. Gene therapy for severe combined immunodeficiency: are we there yet? J. Clin. Invest. 117(6), 1456-1465 (2007).
63. Thrasher A. Case of leukaemia associated with SCID-X1 gene therapy trial in London. Hum. Gene Ther. 19(1), 3-4 (2008).
64. 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).
65. 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).
66. 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).
67. 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).
68. 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. Transplantation 79(2), 255-256 (2005).
69. 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).
70. 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).
71. Uitto J. Epidermolysis bullosa: prospects for cell-based therapies. J. Invest. Dermatol. 128(9), 2140-2142 (2008).