Hereditary blistering diseaes. Symptoms, diagnosis and treatment of epidermolysis bullosa;Erbliche blasenbildende Erkrankungen. Klinik, Diagnostik und Therapie der Epidermolyis

Hautarzt

Volumn 60, Issue 5, 2009, Pages 378-388

  Laimer, M ^a,b   Lanschutzer C M ^a,b   Nischler, E ^a,b   Klausegger, A ^a,b   Diem, A ^a,b   Pohla Gubo, G ^a,b   JWBauer, ^a,b   Hintner, H ^a,b  

^a Salzburger Landeskliniken   (Austria)

^b Universitatsklinik fur Dermatologie   (Austria)

Author keywords

Eb house austria; Hereditary epidermolysis bullosa; Molecular pathology; Molecular therapy; Multidisciplinar access

Indexed keywords

ANTIBIOTIC AGENT; CORTICOSTEROID;

ARTICLE; CLINICAL FEATURE; DISEASE CLASSIFICATION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; EYE DISEASE; GASTROINTESTINAL DISEASE; GENE THERAPY; GENETIC COUNSELING; GENODERMATOSIS; HEMATOLOGIC DISEASE; HISTOPATHOLOGY; HUMAN; LUNG DISEASE; NUTRITIONAL DISORDER; PATHOGENESIS; PROGNOSIS; TOOTH DISEASE; UROGENITAL TRACT DISEASE;

CLINICAL TRIALS AS TOPIC; DERMATOLOGIC AGENTS; EPIDERMOLYSIS BULLOSA; GENETIC PREDISPOSITION TO DISEASE; HUMANS;

EID: 67649435996     PISSN: 00178470     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00105-008-1686-9     Document Type: Article

References (31)

1. Bauer JW, Laimer M (2004) Gene therapy of epidermolysis bullosa. Expert Opin BiolTher4:14351443
2. Bauer JW, Schaeppi H, Metze D et al. (1999) Ocular involvement in IgA-epidermolysis bullosa acquisita. Br J Dermatol 141:887-892
3. Bauer JW Schaeppi H, Kaserer C et al. (2001 ) Large melanocyte nevi in hereditary epidermolysis bullosa. J Am Acad Dermatol 44:577-584
4. Bodemer C,Tchen SI, Ghomrasseni S et al. (2003) Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation. J Invest Dermatol 121:273-279
5. Christiano AM, Pulkkinen L, McGrath JA et al. (1997) Mutation based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 4:343-354
6. Eming R, Hertl M; Autoimmune Diagnostics Working Group (2006) Autoimmune bullous disorders. Clin Chem Lab Med 44:144-149
7. Fassihi H, Eady RA, Mellerio JE et al. (2006) Prenatal diagnosis for severe inherited skin disorders: 25 years'experience. Br J Dermatol 154:106-113
8. Featherstone C (2007) Epidermolysis bullosa: from fundamental molecular biology to clinical therapies. J Invest Dermatol 127:256-259
9. Fine JD, Eady RA, Bauer EA et al. (2000) 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 42:10511066
10. Fine JD,Johnson LB,Weiner Metal.(2007)Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry. Laryngoscope 117:1652-1660
11. Fine JD, Eady RA, Bauer EA et al. (2008) The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 58:931-950
12. Grubauer G, Hintner H, Klein G et al. (1989) Erworbene, flächige Riesen-Nävuszellnävi bei generalisierter, atrophisierender benigner Epidermolysis bullosa. Hautarzt 40:523-526
13. Haynes L, Atherton DJ, Ade-Ajayi N et al. (1996) Gastrostomy and growth in dystrophic epidermolysis bullosa. Br J Dermatol 134:872-879
14. Klausegger A, Pulkkinen L, Pohla-Gubo G et al. (2001 ) Is Screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? J Invest Dermatol 116:474-1175
15. Lanschuetzer CM, Emberger M, Hametner R et al. (2003) Pathogenic mechanisms in epidermolysis bullosa naevi. Acta Derm Venereol 83:332-337
16. Lanschuetzer CM, Emberger M, Laimer M et al. (2005) Epidermolysis bullosa naevi reveal a distinctive dermoscopic pattern. Br J Dermatol 153:97102
17. Mavilio F, Pellegrini G, Ferrari S et al. (2006) Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med 12:1397-1402
18. McGrath JA Schofield OM, Mayou BJ et al. (1992) Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases. J Cutan Pathol 19:116-123
19. Mihai S, Sitaru C (2007) lmmunopathology and molecular diagnosis of autoimmune bullous diseases. J Cell Mol Med 11:462-181
20. Österreichische Bundesregierung (1994) Österreichisches Gentechnikgesetz (GTG). BGBL 510/1994
21. Österreichische Bundesregierung (1998) Änderung des Gentechnikgesetzes - GTG. BGBL l: 73/1998
22. Ortiz-Urda s, Lin Q, Green CL et al. (2003) Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue. J Clin Invest 111:251-255
23. Pulkkinen L, McGrath JA, Christiano AM et al. (1995) Detection of sequence variants in the gene coding the beta3 chain of laminin 5 (LAMB3) by heteroduplex analysis of PCR amplified segments. HumMutat6:77-84
24. Ruzzi L, Pas H, Posteraro P et al. (2001 ) A homozygous nonsense mutation in type XVII collagen gene {COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol 116:182-187
25. Wagner KR, Hamed S, Hadley DW et al. (2001) Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 49:706-711
26. WallyV, Klausegger A, Hintner H et al. (in press) Trans-splicing for gene therapy of autosomal dominant diseases. J Invest Dermatol
27. Weber F, Bauer JW, Sepp N et al. (2001) Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa. Acta Derm Venereol 22:329-335
28. Woodley DT, Krueger GG, Jorgensen CM et al. (2003) Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone. J Invest Dermatol 121:1021-1028
29. Woodley DT, Keen DR, AthaT (2004) Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo. Mol Ther 10:318-326
30. Woodley DT, Keen DR, Atha T (2004) Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. Nat Med 10:693-695
31. Woodley DT, Remington J, Huang Y et al. (2007) Intravenously injected human fibroblasts home to skin wounds, deliver type VII collagen, and promote wound healing. Mol Ther 15:628-635