The clinical spectrum of dystrophic epidermolysis bullosa

Summary Background  Dystrophic epidermolysis bullosa (DEB) is a genodermatosis resulting from mutations in COL7A1, the gene encoding type VII collagen. The site and specific nature of the underlying mutation determine the clinical phenotype, which ranges widely from a severe mutilating condition to a relatively mild disorder.

[1]  K. Wiss Epidermolysis bullosa: Clinical, epidemiologic, and laboratory advances and the findings of the National Epidermolysis Bullosa Registry , 2001 .

[2]  E. Bauer,et al.  Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. , 2000, Journal of the American Academy of Dermatology.

[3]  J. Uitto,et al.  The DEBRA International Visioning/Consensus Meeting on Epidermolysis Bullosa: summary and recommendations. , 2000, The Journal of investigative dermatology.

[4]  H. Horn,et al.  The clinical spectrum of epidermolysis bullosa simplex , 2000, The British journal of dermatology.

[5]  J. McGrath,et al.  Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. , 1999, The Journal of investigative dermatology.

[6]  J. Uitto Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics , 1999, Experimental dermatology.

[7]  Lake,et al.  Pyloric atresia–junctional epidermolysis bullosa syndrome: mutations in the integrin β4 gene (ITGB4) in two unrelated patients with mild disease , 1998, The British journal of dermatology.

[8]  Eady,et al.  A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa , 1998, The British journal of dermatology.

[9]  G. Priestley,et al.  The prevalence of epidermolysis bullosa in Scotland , 1997, The British journal of dermatology.

[10]  J. Kirkham,et al.  The Chemical Composition of Tooth Enamel in Recessive Dystrophic Epidermolysis Bullosa: Significance with Respect to Dental Caries , 1996, Journal of dental research.

[11]  J. Naeyaert,et al.  Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. , 1995, The Journal of investigative dermatology.

[12]  J. McGrath,et al.  Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features , 1994, The British journal of dermatology.

[13]  W. Mostafa,et al.  EPIDERMOLYSIS BULLOSA IN THE EASTERN PROVINCE OF SAUDI ARABIA , 1993, International journal of dermatology.

[14]  M. Walsh,et al.  Epidermolysis bullosa in Northern Ireland , 1992, The British journal of dermatology.

[15]  I. Dobrić,et al.  Occurrence of Hereditary Bullous Epidermolyses in Croatia , 1990, Pediatric dermatology.

[16]  I. Winship Epidermolysis bullosa in South Africa. , 1986, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

[17]  M. Kero Occurrence of epidermolysis bullosa in Finland. , 1984, Acta dermato-venereologica.

[18]  R. Eady,et al.  DIAGNOSING EPIDERMOLYSIS BULLOSA , 1983, The British journal of dermatology.

[19]  R. Dobson,et al.  British Association of Dermatologists , 2014 .

[20]  R. Marsden,et al.  Epidermolysis bullosa of the oesophagus with oesophageal web formation , 1974, Thorax.

[21]  J. Mc Guire Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study , 1971, The Yale Journal of Biology and Medicine.