Inherited epidermolysis bullosa: New diagnostic criteria and classification

Clinics in Dermatology

Volumn 30, Issue 1, 2012, Pages 70-77

  Intong, Lizbeth R A ^a   Murrell, Dédée F ^a  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; BULLOUSPEMPHIGOID ANTIGEN 1; STRUCTURAL PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BLISTER; DISEASE CLASSIFICATION; DYSTONIN GENE; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE; GENE MUTATION; GENE TARGETING; HUMAN; IMMUNOFLUORESCENCE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; TRANSMISSION ELECTRON MICROSCOPY;

DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA ACQUISITA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA SIMPLEX; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; MICROSCOPY, ELECTRON, TRANSMISSION;

EID: 83155188960     PISSN: 0738081X     EISSN: 18791131     Source Type: Journal    
DOI: 10.1016/j.clindermatol.2011.03.012     Document Type: Article

References (20)

1. 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 2008, 58:931-950.
2. Pearson R.W. Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol 1962, 39:551-575.
3. Uitto J., Richard G. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol 2005, 23:33-40.
4. Yiasemides E., Walton J., Marr P., et al. A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa. Am J Dermatopathol 2006, 28:387-394.
5. Fine J.D. Inherited epidermolysis bullosa: recent basic and clinical advances. Curr Opin Pediatr 2010, 22:453-458.
6. Intong L.R.A., Murrell D.F. How to take skin biopsies for epidermolysis bullosa. Dermatol Clin 2010, 28:197-200.
7. Eady R.A., Dopping-Hepenstal P.J.C. Transmission electron microscopy for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010, 28:211-222.
8. Pohla-Gubo G., Cepeda-Valdes R., Hintner H. Immunofluorescence mapping for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010, 28:201-210.
9. Castiglia D., Zambruno G. Molecular testing in epidermolysis bullosa. Dermatol Clin 2010, 28:223-229.
10. Varki R., Sadowski S., Pfender E., Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 2006, 43:641-652.
11. Varki R., Sadowski S., Uitto J., Pfender E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 2007, 44:181-192.
12. van den Akker P.C., van Essen A.J., Kraak M.M.J., et al. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. J Dermatol Sci 2009, 56:9-18.
13. Groves R.W., Liu L., Dopping-Hepenstal P.J., et al. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 2010, 130:1551-1557.
14. Sawamura D., Nakano H., Matsuzaki Y. Overview of epidermolysis bullosa. J Dermatol 2010, 37:214-219.
15. Almaani L., Liu L., Dopping-Hepenstal P.J., et al. Autosomal dominant junctional epidermolysis bullosa. Br J Dermatol 2009, 160:1094-1097.
16. Fine J.D., Mellerio J.E. Extracutaneous manifestations and complications of inherited epidermolysis bullosa. Part I. Epithelial associated tissues. J Am Acad Dermatol 2009, 61:367-384.
17. Frew J.W., Martin L.K., Nijsten T., Murrell D.F. Quality of life evaluation in epidermolysis bullosa (EB) through the development of the QOLEB questionnaire: an EB-specific quality of life instrument. Br J Dermatol 2009, 161:1323-1330.
18. Fine J.D., Mellerio J.E. Extracutaneous manifestations and complications of inherited epidermolysis bullosa. Part II. Other organs. J Am Acad Dermatol 2009, 61:387-402.
19. Lai-Cheong J.E., Tanaka A., Hawche G., et al. Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol 2009, 160:233-242.
20. Lai-Cheong J.E., McGrath J.A. Kindler syndrome. Dermatol Clin 2010, 28:119-124.