Dystrophic Epidermolysis Bullosa: Pathogenesis and Clinical Features

Dermatologic Clinics

Volumn 28, Issue 1, 2010, Pages 107-114

  Bruckner Tuderman, Leena ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Anchoring fibrils; Blistering; Dermal epidermal junction; Scarring

Indexed keywords

ANTIBIOTIC AGENT; COLLAGEN TYPE 7; CORTICOSTEROID; EPIDERMAL GROWTH FACTOR RECEPTOR KINASE INHIBITOR; MESSENGER RNA; RETROVIRUS VECTOR;

BLISTER; CANCER RADIOTHERAPY; CANCER RISK; CHEMOPROPHYLAXIS; CLINICAL FEATURE; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; DOMINANT INHERITANCE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOSITY; HUMAN; KERATINOCYTE; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROGNOSIS; RECESSIVE INHERITANCE; REVIEW; SKIN BIOPSY; SKIN CARCINOMA; SKIN SURGERY; SQUAMOUS CELL CARCINOMA; STOP CODON; VIRAL GENE THERAPY; WOUND CARE;

DERMIS; EPIDERMIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; HUMANS;

EID: 70450267632     PISSN: 07338635     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.det.2009.10.020     Document Type: Review

References (32)

1. Bruckner-Tuderman L., Rüegger S., Odermatt B., et al. Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa. Dermatologica 176 (1988) 57-64
2. Christiano A.M., Greenspan D.S., Hoffman G.G., et al. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet 4 (1993) 62-66
3. Dang N., and Murrell D.F. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 17 (2008) 553-568
4. Has C., and Bruckner-Tuderman L. Molecular and clinical aspects of genetic skin fragility. J Dermatol Sci 44 (2006) 129-144
5. Kern J.S., and Has C. Update on diagnosis and therapy of inherited epidermolysis bullosa. Expert Rev Dermatol 3 (2008) 721-733
6. Aumailley M., Has C., Tunggal L., et al. Molecular basis of inherited skin blistering disorders and therapeutic implications. Expert Rev Mol Med 8 (2006) 1-21
7. Fine J.-D., Bauer E.A., McGuire J., et al. Epidermolysis bullosa. Clinical, epidemiologic, and laboratory advances, and the findings of the national epidermolysis bullosa registry (1999), The Johns Hopkins University Press, Baltimore (MD)
8. Bruckner-Tuderman L., and Stanley J.R. Epidermal and epidermal/dermal cohesion. In: Wolff K., Goldsmith L., Katz S.I., et al. (Eds). Fitzpatrick's dermatology in general medicine. 7th edition (2008), McGraw-Hill Medical, New York 736-752
9. Bruckner-Tuderman L., Höpfner B., and Hammami-Hauasli N. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa. Matrix Biol 18 (1999) 43-54
10. Raghunath M., Höpfner B., Aeschlimann D., et al. Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase. J Clin Invest 98 (1996) 1174-1184
11. Villone D., Fritsch A., Koch M., et al. Supramolecular interactions in the dermo-epidermal junction zone: anchoring fibril-collagen VII tightly binds to banded collagen fibrils. J Biol Chem 283 (2008) 24506-24513
12. Heinonen S., Männikkö M., Klement J.F., et al. 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 (1999) 3641-3648
13. Fritsch A., Loeckermann S., Kern J.S., et al. A hypomorphic mouse model for dystrophic epidermolysis bullosa reveals disease mechanisms and responds to fibroblast therapy. J Clin Invest 118 (2008) 1669-1679
14. Fine J.-D., Eady R.A.J., Bauer E.A., 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 (2008) 931-950
15. Bruckner-Tuderman L. Epidermolysis bullosa. In: Burgdorf W., Plewig G., Wolff H.H., et al. (Eds). Braun-Falco's dermatology. 3rd edition (2009), Springer Medizin Verlag, Heidelberg (Germany) 628-640
16. McGrath J.A., Schofield O.M.V., and Eady R.A.J. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 130 (1994) 617-625
17. Hammami-Hauasli N., Raghunath M., Küster W., et al. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. J Invest Dermatol 111 (1998) 1214-1219
18. Sato-Matsumura K.C., Yasukawa K., Tomita Y., et al. Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. Arch Dermatol 138 (2002) 269-271
19. Lin A.N., Smith L.T., and Fine J.-D. Dystrophic epidermolysis bullosa inversa: report of two cases with further correlation between electron microscopic and immunofluorescence studies. J Am Acad Dermatol 33 (1995) 361-365
20. Schumann H., Has C., Kohlhase J., et al. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br J Dermatol 159 (2008) 464-469
21. Almaani N., Liu L., Harrison N., et al. New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa, but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. Acta Derm Venereol 89 (2009) 6-11
22. Hashimoto K., Matsumoto M., and Iacobelli D. Transient bullous dermolysis of the newborn. Arch Dermatol 121 (1985) 1429-1438
23. Fine J.D., Johnson L.B., Weiner M., et al. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol 60 (2009) 203-211
24. Arnold A.W., Bruckner-Tuderman L., Züger C., et al. Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa. Dermatology 219 (2009) 80-83
25. Kern J.S., Kohlhase J., Bruckner-Tuderman L., et al. 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 (2006) 1006-1012
26. Uitto J. Epidermolysis bullosa: prospects for cell-based therapies. J Invest Dermatol 128 (2008) 2140-2142
27. Remington J., Wang X., Hou Y., et al. Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol Ther 17 (2009) 26-33
28. Ortiz-Urda S., Thyagarajan B., Keene D.R., et al. Stable nonviral genetic correction of inherited human skin disease. Nat Med 8 (2002) 1166-1170 [erratum in: Nat Med 2003;9:237]
29. Baldeschi C., Gache Y., Rattenholl A., et al. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12 (2003) 1897-1905
30. Woodley D.T., Remington J., Huang Y., et al. Intravenously injected human fibroblasts home to skin wounds, deliver type VII collagen, and promote wound healing. Mol Ther 15 (2007) 628-635
31. Wong T., Gammon L., Liu L., et al. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol 128 (2008) 2179-2189
32. Tolar J., Ishida-Yamamoto A., Riddle M., et al. Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood 113 (2009) 1167-1174