epidermolysis bullosa

Summary

Summary: Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.

Top Publications

  1. ncbi Anaesthesia for children with epidermolysis bullosa: a review of 20 years' experience
    G Iohom
    Department of Anaesthesia, Our Lady's Hospital for Sick Children, Dublin, Ireland
    Eur J Anaesthesiol 18:745-54. 2001
  2. ncbi Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy
    J W Bauer
    Department of Dermatology, General Hospital Salzburg, Austria
    Clin Exp Dermatol 28:53-60. 2003
  3. ncbi Epidermolysis bullosa naevi reveal a distinctive dermoscopic pattern
    C M Lanschuetzer
    Department of Dermatology, Paracelsus Private Medical University, Muellner Hauptstrasse 48, A-5020 Salzburg, Austria
    Br J Dermatol 153:97-102. 2005
  4. ncbi Dilation of an esophageal stricture caused by epidermolysis bullosa
    Gregory N Postma
    Center for Voice Disorders, Department of Otolaryngology, Wake Forest University Medical Center, Winston-Salem, N.C, USA
    Ear Nose Throat J 81:86. 2002
  5. ncbi Epidermolysis bullosa nevi
    Christoph Michael Lanschuetzer
    Department of Dermatology, Paracelsus Medical University, Mullner Hauptstr 48, Salzburg 5020, Austria
    Dermatol Clin 28:179-83. 2010
  6. ncbi Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition
    D Castiglia
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    J Invest Dermatol 117:731-9. 2001
  7. ncbi Large melanocytic nevi in hereditary epidermolysis bullosa
    J W Bauer
    Department of Dermatology, General Hospital Salzburg, Austria
    J Am Acad Dermatol 44:577-84. 2001
  8. ncbi [Hereditary blistering diseases. Symptoms, diagnosis and treatment of epidermolysis bullosa]
    M Laimer
    Universitätsklinik für Dermatologie, Paracelsus Medizinische Privatuniversität PMU, Salzburg
    Hautarzt 60:378-88. 2009
  9. ncbi Pyloric atresia associated with epidermolysis bullosa
    Alireza Alam Sahebpor
    Department of Pediatric Surgery, Mazandaran University of Medical Science, Sari, Iran
    Indian Pediatr 45:849-51. 2008
  10. ncbi Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management
    R Wallerstein
    Human Genetics Program, Department of Pediatrics, and Department of Radiology, New York University School of Medicine, New York, New York, USA
    Pediatr Dermatol 17:286-9. 2000

Research Grants

  1. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David Woodley; Fiscal Year: 2002
  2. Keratin Gene Targeting for the Treatment of Epidermolysis Bullosa
    Daniel G Miller; Fiscal Year: 2010
  3. Role of autoantibody isotype in pemphigus pathogenesis
    Aimee S Payne; Fiscal Year: 2010
  4. GORDON RESEARCH CONFERENCE ON BASEMENT MEMBRANES
    James Kramer; Fiscal Year: 2002
  5. 2006 Gordon Research Conference on Basement Membranes
    JEFFREY MINER; Fiscal Year: 2006
  6. GORDON RESEARCH CONFERENCE ON BASEMENT MEMBRANES
    James Kramer; Fiscal Year: 2004
  7. Matrix Protein in Human Epidermal Neoplasia
    Robin Kimmel; Fiscal Year: 2006
  8. Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
    MATT PETER MARINKOVICH; Fiscal Year: 2010
  9. Strategies Towards Gene Therapy for Dystrophic Epidermolysis Bullosa
    Mei Chen; Fiscal Year: 2009
  10. Protein Therapy for Junctional Epidermolysis Bullosa
    Vitali Alexeev; Fiscal Year: 2006

Detail Information

Publications225 found, 100 shown here

  1. ncbi Anaesthesia for children with epidermolysis bullosa: a review of 20 years' experience
    G Iohom
    Department of Anaesthesia, Our Lady's Hospital for Sick Children, Dublin, Ireland
    Eur J Anaesthesiol 18:745-54. 2001
    BACKGROUND AND OBJECTIVE: Epidermolysis bullosa is a rare, genetically determined disorder characterized by excessive susceptibility of the skin and mucosa to separate from the underlying tissues after mechanical trauma...
  2. ncbi Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy
    J W Bauer
    Department of Dermatology, General Hospital Salzburg, Austria
    Clin Exp Dermatol 28:53-60. 2003
    Non-Herlitz junctional epidermolysis bullosa (nH-JEB) is caused predominantly by mutations leading to premature stop codons on both alleles of the type XVII collagen gene (COL17A1)...
  3. ncbi Epidermolysis bullosa naevi reveal a distinctive dermoscopic pattern
    C M Lanschuetzer
    Department of Dermatology, Paracelsus Private Medical University, Muellner Hauptstrasse 48, A-5020 Salzburg, Austria
    Br J Dermatol 153:97-102. 2005
    BACKGROUND: Large, asymmetrical and irregularly pigmented naevi in patients with epidermolysis bullosa (EB) have been reported often to mimic cutaneous melanoma clinically...
  4. ncbi Dilation of an esophageal stricture caused by epidermolysis bullosa
    Gregory N Postma
    Center for Voice Disorders, Department of Otolaryngology, Wake Forest University Medical Center, Winston-Salem, N.C, USA
    Ear Nose Throat J 81:86. 2002
  5. ncbi Epidermolysis bullosa nevi
    Christoph Michael Lanschuetzer
    Department of Dermatology, Paracelsus Medical University, Mullner Hauptstr 48, Salzburg 5020, Austria
    Dermatol Clin 28:179-83. 2010
    b>Epidermolysis bullosa (EB) nevi are large, eruptive, asymmetrical, often irregularly pigmented melanocytic lesions...
  6. ncbi Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition
    D Castiglia
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    J Invest Dermatol 117:731-9. 2001
    ..Mutations in the three genes (LAMA3, LAMB3, LAMC2) encoding the laminin-5 chains cause junctional epidermolysis bullosa, a clinically and genetically heterogeneous blistering skin disease...
  7. ncbi Large melanocytic nevi in hereditary epidermolysis bullosa
    J W Bauer
    Department of Dermatology, General Hospital Salzburg, Austria
    J Am Acad Dermatol 44:577-84. 2001
    Large melanocytic nevi occurring in areas of former blistering in patients with hereditary epidermolysis bullosa (EB) pose a problem to the clinician with regard to prognosis and therapy because they may show clinical and histopathologic ..
  8. ncbi [Hereditary blistering diseases. Symptoms, diagnosis and treatment of epidermolysis bullosa]
    M Laimer
    Universitätsklinik für Dermatologie, Paracelsus Medizinische Privatuniversität PMU, Salzburg
    Hautarzt 60:378-88. 2009
    Hereditary epidermolysis bullosa (EB) is a term for a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes following minor trauma...
  9. ncbi Pyloric atresia associated with epidermolysis bullosa
    Alireza Alam Sahebpor
    Department of Pediatric Surgery, Mazandaran University of Medical Science, Sari, Iran
    Indian Pediatr 45:849-51. 2008
    We present 5 cases of pyloric atresia associated with junctional epidermolysis bullosa, from 2003 to 2005. Patients underwent laparatomy after stabilization...
  10. ncbi Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management
    R Wallerstein
    Human Genetics Program, Department of Pediatrics, and Department of Radiology, New York University School of Medicine, New York, New York, USA
    Pediatr Dermatol 17:286-9. 2000
    The epidermolysis bullosa-pyloric atresia-obstructive uropathy (EB-PA-OU) association is a rare, but well-described multisystem disease...
  11. ncbi Deep sedation with intravenous infusion of combined propofol and ketamine during dressing changes and whirlpool bath in patients with severe epidermolysis bullosa
    Junzheng Wu
    Department of Anesthesia, Cincinnati Children Hospital Medical Center, Cincinnati, OH, USA
    Paediatr Anaesth 17:592-6. 2007
    ..or propofol plus ketamine for deep sedation and analgesia was carried out in two patients with severe epidermolysis bullosa (EB) during extensive dressing changes and deep whirlpool baths...
  12. ncbi Pathogenic mechanisms in epidermolysis bullosa naevi
    Christoph M Lanschuetzer
    Department of Dermatology, General Hospital Salzburg, Austria
    Acta Derm Venereol 83:332-7. 2003
    b>Epidermolysis bullosa naevi are large, eruptive melanocytic naevi which frequently arise in areas of former blisters in patients suffering from inherited epidermolysis bullosa...
  13. ncbi Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model
    Annabelle Capt
    INSERM U634, Faculty of Medicine, University Hospital, Nice Cedex, France
    J Invest Dermatol 124:530-5. 2005
    Junctional epidermolysis bullosa (JEB) is a genodermatosis suitable for gene therapy because conventional treatments are ineffective...
  14. ncbi Progress in epidermolysis bullosa research: toward treatment and cure
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 130:1778-84. 2010
    b>Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of blistering disorders with considerable morbidity and mortality...
  15. ncbi Pyloric atresia associated with epidermolysis bullosa--three cases presenting in three months
    Lubna Samad
    Department of Pediatric Surgery, National Institute of Child Health, Karachi, Pakistan
    J Pediatr Surg 39:1267-9. 2004
    Three neonates presenting with pyloric atresia and epidermolysis bullosa are described in this report. Two babies underwent surgery for pyloric atresia, and 1 of these has survived until 3 months of age with no complications...
  16. ncbi Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)
    L Pulkkinen
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5541, USA
    Am J Pathol 152:157-66. 1998
    b>Epidermolysis bullosa with pyloric atresia (EB-PA; OMIM 226730) is a clinically and genetically heterogeneous autosomal recessive blistering disorder, including lethal and nonlethal variants...
  17. ncbi Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice
    Yasuyuki Fujita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Proc Natl Acad Sci U S A 107:14345-50. 2010
    ..This study aims to clarify whether bone marrow transplantation (BMT) treatment can rescue epidermolysis bullosa (EB) caused by defects in keratinocyte structural proteins...
  18. ncbi An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
    W H Irwin McLean
    University of Dundee, Ninewells Medical School, Dundee, UK
    Hum Mol Genet 12:2395-409. 2003
    ..in which loss-of-expression mutations cause the lethal skin blistering disorder Herlitz junctional epidermolysis bullosa. Detailed investigation showed that this gene possesses a further 38 exons (76 exons in total) spanning ..
  19. ncbi Gastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National Epidermolysis Bullosa Registry
    Jo David Fine
    National Epidermolysis Bullosa Registry, and Department of Medicine Dermatology, Vanderbilt University School of Medicine, Nashville, TN 37203, USA
    J Pediatr Gastroenterol Nutr 46:147-58. 2008
    Portions of the gastrointestinal (GI) tract may be severely involved in patients with inherited epidermolysis bullosa (EB). Evidence-based data are lacking as to the frequency and time of onset of these complications.
  20. ncbi Cause-specific risks of childhood death in inherited epidermolysis bullosa
    Jo David Fine
    National Epidermolysis Bullosa Registry, Nashville, TN, USA
    J Pediatr 152:276-80. 2008
    To determine the cause-specific risks of death in children with epidermolysis bullosa (EB).
  21. ncbi Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry
    Jo David Fine
    National Epidermolysis Bullosa Registry, Nashville, Tennessee 37203, USA
    Laryngoscope 117:1652-60. 2007
    To accurately determine the frequency with which complications arise in the ears, noses, and throats of patients with inherited epidermolysis bullosa (EB) as well as the cumulative risk of tracheolaryngeal stenosis or stricture.
  22. ncbi Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry
    Jo David Fine
    National Epidermolysis Bullosa Registry, Lexington, Kentucky, USA
    Am J Ophthalmol 138:254-62. 2004
    To determine the frequency of ocular manifestations in inherited epidermolysis bullosa (EB) within the continental United States and to define the estimated cumulative risks of developing nonscarring (blisters or erosions) and scarring ..
  23. ncbi Epidermolysis bullosa: a genetic disease of altered cell adhesion and wound healing, and the possible clinical utility of topically applied thymosin beta4
    Jo David Fine
    Department of Medicine Dermatology, Vanderbilt University School of Medicine, Nashville, TN 37203, USA
    Ann N Y Acad Sci 1112:396-406. 2007
    Inherited epidermolysis bullosa (EB), having an overall incidence of only about 19 in every 1 million live births, encompasses many phenotypically and genotypically distinct diseases characterized by the presence of recurrent blisters, ..
  24. ncbi Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1
    Daisuke Sawamura
    J Invest Dermatol 127:1537-40. 2007
  25. ncbi A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa
    Eleni Yiasemides
    Department of Dermatology, St George Hospital, Sydney, NSW, Australia
    Am J Dermatopathol 28:387-94. 2006
    The classification of epidermolysis bullosa (EB) into 3 main subtypes has been based on transmission electron microscopy (TEM) that is able to directly visualize and quantify specific ultrastructural features...
  26. ncbi Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes
    Roslyn Varki
    DebRA Molecular Diagnostics Laboratory, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Med Genet 44:181-92. 2007
    The dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering disorders, show considerable phenotypic variability, and both autosomal dominant and autosomal recessive inheritance can be recognised...
  27. ncbi Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia
    Ellen Pfendner
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 124:111-5. 2005
    b>Epidermolysis bullosa with pyloric atresia (EB-PA), manifesting with neonatal blistering and gastric anomalies, is known to be caused by mutations in the hemidesmosomal genes ITGA6 and ITGB4, which encode the alpha6 and beta4 integrin ..
  28. ncbi Inherited epidermolysis bullosa and the risk of death from renal disease: experience of the National Epidermolysis Bullosa Registry
    Jo David Fine
    The National Epidermolysis Bullosa Registry, Lexington, KY, USA
    Am J Kidney Dis 44:651-60. 2004
    ..reports and limited clinical series suggested that renal failure may occur in some patients with inherited epidermolysis bullosa (EB)...
  29. ncbi Pseudosyndactyly and musculoskeletal contractures in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry, 1986-2002
    J D Fine
    National Epidermolysis Bullosa Registry, Nashville, Tennessee, USA
    J Hand Surg Br 30:14-22. 2005
    ..occur in nearly every patient with the most severe subtype (Hallopeau-Siemens) of recessive dystrophic epidermolysis bullosa, and in at least 40-50% of all other recessive dystrophic epidermolysis bullosa patients...
  30. ncbi Herpetic infection in epidermolysis bullosa
    Adam I Rubin
    Department of Dermatology, Columbia University, New York, New York 10032, USA
    Pediatr Dermatol 23:355-7. 2006
    Patients with various forms of epidermolysis bullosa have fragile skin which can act as a breeding ground for multiple microbial agents...
  31. ncbi Genetic abnormalities and clinical classification of epidermolysis bullosa
    Yoshihiko Mitsuhashi
    Department of Dermatology, Yamagata University School of Medicine, Yamagata, Japan
    Arch Dermatol Res 295:S29-33. 2003
    Genetic abnormalities for different subtypes of epidermolysis bullosa (EB) have been described. In dominant simplex type EB, mutations of the K5 or K14 gene lead to disruption of basal cells and the formation of bullae...
  32. ncbi Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia
    Maryline Allegra
    INSERM U385, Faculty of Medicine, University of Nice-Sophia Antipolis, France
    J Invest Dermatol 121:1336-43. 2003
    Genetic mutations in alpha6beta4 integrin cause junctional epidermolysis bullosa with pyloric atresia, a genodermatosis characterized by blistering of the skin and pyloric occlusion...
  33. ncbi Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome?
    Cristiane Benvenuto
    Department of Dermatology, University of Rio Grande do Sul, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil
    Skinmed 2:319-21. 2003
  34. ncbi Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature
    Jo David Fine
    Department of Medicine Dermatology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
    J Urol 172:2040-4. 2004
    ..complications (urethral meatal stenosis, urinary retention, bladder hypertrophy, hydronephrosis secondary to ureteral strictures, pyelonephritis and cystitis) occur in inherited epidermolysis bullosa (EB) in the American EB population.
  35. ncbi Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
    Marcel F Jonkman
    Department of Dermatology, University Medical Centre Groningen, The Netherlands
    Am J Hum Genet 77:653-60. 2005
    ..The new dramatic phenotype, which we named "lethal acantholytic epidermolysis bullosa," underscores the paramount role of DP in epidermal integrity.
  36. ncbi Tissue-engineered skin (Apligraf) in the healing of patients with epidermolysis bullosa wounds
    A F Falabella
    VAMC Department of Dermatology, 1201 NW 16th St 165, Miami, FL 33125, USA
    Arch Dermatol 136:1225-30. 2000
    At present, wound treatment of inherited epidermolysis bullosa (EB) is only supportive.
  37. ncbi The risk of cardiomyopathy in inherited epidermolysis bullosa
    J D Fine
    The National Epidermolysis Bullosa Registry, Nashville, TN, USA
    Br J Dermatol 159:677-82. 2008
    Case reports have suggested that cardiomyopathy may be a complication of recessive dystrophic epidermolysis bullosa (RDEB).
  38. ncbi Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006
    Jo David Fine
    National Epidermolysis Bullosa Registry, Nashville, Tennessee, USA
    J Am Acad Dermatol 60:203-11. 2009
    Case series have demonstrated that potentially lethal cutaneous squamous cell carcinomas arise in patients with recessive dystrophic epidermolysis bullosa (RDEB), although the magnitude of this risk is undefined.
  39. ncbi Occurrence of hereditary bullous epidermolyses in Croatia
    Z Pavicic
    Department of Dermatology, School of Medicine, University of Zagreb, Yugoslavia
    Pediatr Dermatol 7:108-10. 1990
    ..Prevalence of EB in Croatia is 0.956 cases per 100,000 inhabitants. One case of recessive dystrophic EB Hallopeau-Siemens occurred in about every 52,000 live births...
  40. ncbi Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues
    Jo David Fine
    The National Epidermolysis Bullosa Registry, and Department of Medicine Dermatology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
    J Am Acad Dermatol 61:367-84; quiz 385-6. 2009
    ..reports and small case series, it has been known for many years that some types and subtypes of inherited epidermolysis bullosa (EB) may be at risk for developing one or more extracutaneous complications...
  41. ncbi Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs
    Jo David Fine
    The National Epidermolysis Bullosa Registry, and Department of Medicine Dermatology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
    J Am Acad Dermatol 61:387-402; quiz 403-4. 2009
    ..via case reports and limited case series, that nonepithelial tissues may become injured in patients with epidermolysis bullosa. Only recently, however, have there been data generated from large, well characterized cohorts...
  42. ncbi Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization
    W H McLean
    Department of Anatomy and Physiology, Medical Sciences Institute, University of Dundee, UK
    Genes Dev 10:1724-35. 1996
    ..The human autosomal recessive disorder epidermolysis bullosa with muscular dystrophy (MD-EBS) shows epidermal blister formation at the level of the hemidesmosome and ..
  43. ncbi Towards a gene therapy clinical trial for epidermolysis bullosa
    Stefano Ferrari
    Epithelial Stem Cell Research Centre, Veneto Eye Bank Foundation, Ospedale Civile SS Giovanni e Paolo, Sestiere Castello 6777, 30122 Venezia, Italy
    Rev Recent Clin Trials 1:155-62. 2006
    ..firmly to the underneath derma lead to severe, often lethal, blistering disorders of the skin known as Epidermolysis Bullosa (EB)...
  44. ncbi Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica
    M M Brook
    Department of Pediatrics, Medical College of Wisconsin, Milwaukee 53226
    Pediatr Dermatol 6:21-3. 1989
    A child with epidermolysis bullosa dystrophica, recessive type (EBDR) developed significant anemia at 9 years of age and was treated with long-term transfusion therapy...
  45. ncbi Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome
    B J Bart
    Arch Dermatol 93:296-304. 1966
  46. ncbi The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
    Jo David Fine
    Vanderbilt University School of Medicine, Nashville, Tennessee National Epidermolysis Bullosa Registry, Nashville, Tennessee, USA
    J Am Acad Dermatol 58:931-50. 2008
    Since publication in 2000 of the Second International Consensus Report on Diagnosis and Classification of Epidermolysis Bullosa, many advances have been made to our understanding of this group of diseases, both clinically and molecularly...
  47. ncbi Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice
    E Georges-Labouesse
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Illkirch, C U de Strasbourg, France
    Nat Genet 13:370-3. 1996
    ..with severe blistering of the skin and other epithelia, a phenotype reminiscent of the human disorder epidermolysis bullosa. Hemidesmosomes are absent in mutant tissue...
  48. ncbi Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
    M F Jonkman
    Department of Dermatology, University Hospital Groningen, The Netherlands
    Cell 88:543-51. 1997
    ..of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene conversion of one of the two mutated COL17A1 alleles...
  49. ncbi Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy
    J Uitto
    Department of Dermatology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    Exp Dermatol 5:237-46. 1996
    ..in as many as nine distinct genes within the dermal-epidermal junction which result in different forms of epidermolysis bullosa (EB), a group of heritable mechano-bullous disorders...
  50. ncbi Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa
    Xianmin Meng
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 121:720-31. 2003
    Junctional forms of epidermolysis bullosa (JEB) are associated with mutations in six distinct genes expressed in the cutaneous basement membrane zone; these include LAMA3, LAMB3, and LAMC2, which encode laminin 5 subunit polypeptides, ..
  51. ncbi Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa
    Anna M G Pasmooij
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Am J Hum Genet 77:727-40. 2005
    ..of multiple corrections in two unrelated probands with revertant mosaicism of non-Herlitz junctional epidermolysis bullosa, an autosomal recessive genodermatosis due to mutations in the COL17A1 gene...
  52. ncbi Successful treatment of epidermolysis bullosa pruriginosa with topical tacrolimus
    Jeremy P Banky
    Churchill Hospital, Oxford Radcliffe Hospitals, Headington, Oxford OX3 7LJ, England
    Arch Dermatol 140:794-6. 2004
  53. ncbi Epidermolysis bullosa and cancer
    R Mallipeddi
    Department of Cell and Molecular Pathology, The Guy s, King s College and St Thomas Hospitals Medical School, St John s Institute of Dermatology, St Thomas Hospital, London, UK
    Clin Exp Dermatol 27:616-23. 2002
    b>Epidermolysis bullosa (EB) encompasses a group of inherited blistering skin disorders classified into three main subtypes of simplex, junctional and dystrophic...
  54. ncbi Epidermolysis bullosa: directions for future research and new challenges for treatment
    Daisuke Sawamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 West 7, Kita-ku, 060-8638 Sapporo, Japan
    Arch Dermatol Res 295:S34-42. 2003
  55. ncbi Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
    F J Smith
    Department of Anatomy and Physiology, Medical Sciences Institute, University of Dundee, UK
    Nat Genet 13:450-7. 1996
    ..anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex)...
  56. ncbi A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain
    A M G Pasmooij
    Centre for Blistering Diseases, Department of Dermatology, University Hospital Groningen, Groningen, The Netherlands
    Exp Dermatol 13:125-8. 2004
    Mutations in the gene COL17A1 cause non-Herlitz junctional epidermolysis bullosa. Here, we describe a patient who, despite two heterozygous mutations in COL17A1, has an extremely mild form of the disease missing most of the ..
  57. ncbi Constipation in epidermolysis bullosa: successful treatment with a liquid fiber-containing formula
    L Haynes
    Department of Dermatology, Great Ormond Street Hospital for Children NHS Trust, London, England
    Pediatr Dermatol 14:393-6. 1997
    In epidermolysis bullosa (EB), chronic constipation, painful defecation, and fecal impaction frequently contribute to malnutrition and growth failure...
  58. ncbi Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
    E Pfendner
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and DebRA Molecular Diagnostics Laboratory, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 14:241-9. 2005
    ..These blistering disorders belong to the spectrum of epidermolysis bullosa (EB) phenotypes, and three distinct variants because of plectin mutations have been identified...
  59. ncbi Progress in epidermolysis bullosa: genetic classification and clinical implications
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Am J Med Genet C Semin Med Genet 131:61-74. 2004
    b>Epidermolysis bullosa (EB), a heterogenous group of genodermatoses, is characterized by fragility and blistering of the skin associated with extracutaneous manifestations...
  60. ncbi Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa
    T N Darling
    Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 1908, USA
    J Invest Dermatol 110:165-9. 1998
    Patients with generalized atrophic benign epidermolysis bullosa often show decreased expression of type XVII collagen, a transmembrane hemidesmosomal protein encoded by COL17A1...
  61. ncbi Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa
    Ariana Huber
    Dermatology Branch, Division of Clinical Sciences, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
    Exp Dermatol 11:75-81. 2002
    Generalized atrophic benign epidermolysis bullosa [GABEB (OMIM no. 226650)] is an inherited subepidermal blistering disease typically caused by null mutations in COL17A1, the gene encoding type XVII collagen...
  62. ncbi Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety
    J D Fine
    Department of Dermatology, School of Medicine, University of Alabama, Birmingham 35294
    Pediatr Dermatol 6:1-5. 1989
    With few exceptions, epidermolysis bullosa simplex (EBS) is transmitted as an autosomal dominant trait...
  63. ncbi Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain
    K Tasanen
    Department of Dermatology, University of Oulu, Finland
    J Invest Dermatol 115:207-12. 2000
    ..of collagen XVII, a keratinocyte adhesion protein, are associated with epidermal detachment in junctional epidermolysis bullosa. Although some missense mutations in the collagen XVII gene COL17A1 have been described, the molecular ..
  64. ncbi Gene therapy of epidermolysis bullosa
    Johann W Bauer
    Department of Dermatology, Paracelsus Private Medical University, Muellner Hauptstrasse 48, A 5020 Salzburg, Austria
    Expert Opin Biol Ther 4:1435-43. 2004
    Easy access to the organ and identification of underlying mutations in epidermolysis bullosa (EB) facilitated the first cutaneous gene therapy experiments in vitro in the mid-1990s...
  65. ncbi Epidermolysis bullosa dystrophica inversa in a child
    L Bruckner-Tuderman
    Department of Dermatology, University Hospital, , Switzerland
    Pediatr Dermatol 7:116-21. 1990
    A 4-year-old child with dystrophic epidermolysis bullosa inversa is described. Clinical features were blistering of the skin, erosions, scarring and milia formation...
  66. ncbi Keratinocytes from patients lacking collagen XVII display a migratory phenotype
    Kaisa Tasanen
    Department of Dermatology, University of Oulu, Oulu, Finland
    Am J Pathol 164:2027-38. 2004
    Acquired or inherited junctional epidermolysis bullosa are skin diseases characterized by a separation between the epidermis and the dermis...
  67. ncbi Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome
    Reuven Bergman
    The Department of Dermatology, Rambam Medical Center, Technion Israel, Institute of Technology, Haifa
    Am J Dermatopathol 27:333-8. 2005
    ..The hair follicle findings suggest disturbance in the hair cycle, which might be attributed to disturbed nuclear PKP1 function or result from aberrant desmosomal signaling...
  68. ncbi Cultured autologous keratinocyte grafting of chronic erosions in three patients with epidermolysis bullosa
    B Collin
    Clin Exp Dermatol 31:718-9. 2006
  69. ncbi Graftskin therapy in epidermolysis bullosa
    David P Fivenson
    Department of Dermatology, Detroit Michigan, USA
    J Am Acad Dermatol 48:886-92. 2003
    b>Epidermolysis bullosa (EB) is a family of 23 genetic skin disorders for which treatments are mainly supportive...
  70. ncbi A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa
    Dan Petronius
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    Am J Dermatopathol 25:198-203. 2003
    Electron microscopic examination still is the gold standard for classifying epidermolysis bullosa, although it is relatively expensive, time consuming, and not readily available...
  71. ncbi Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation
    F Spirito
    U385 INSERM, Faculte de Medecine, Avenue de Valombrose, 06107 Nice Cedex 2, France
    J Biol Chem 276:18828-35. 2001
    ..Mutations in the genes encoding laminin 5 cause junctional epidermolysis bullosa, an inherited skin blistering disease characterized by abnormal hemidesmosomes and cleavage of the lamina ..
  72. ncbi A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex
    A Hovnanian
    Laboratoire de Genetique Moleculaire, INSERM U 91, Hopital Henri Mondor, Creteil, France
    Nat Genet 3:327-32. 1993
    b>Epidermolysis bullosa simplex (EBS) is a group of epidermal blistering diseases almost invariably transmitted as a dominant trait, which has recently been shown to arise from mutations in keratins 14 and 5 (K14 and K5)...
  73. ncbi Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations
    A Nakano
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Pediatr Res 49:618-26. 2001
    b>Epidermolysis bullosa with pyloric atresia (EB-PA: OMIM 226730), also known as Carmi syndrome, is a rare autosomal recessive genodermatosis that manifests with neonatal mucocutaneous fragility associated with congenital pyloric atresia...
  74. ncbi Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin
    Masako Kawachi
    Division of Gene Therapy Science, Graduate School of Medicine, Osaka University, Suita, Osaka 565 0871, Japan
    Hum Gene Ther 18:881-94. 2007
    ..When chimeric HVJ was injected into a skin blister of a mouse model of epidermolysis bullosa, in which defective expression of type VII collagen results in a failure to secure epidermis to the ..
  75. ncbi Cholinergic control of epidermal cohesion
    Sergei A Grando
    Department of Dermatology, University of California at Davis, Sacramento, CA 95817, USA
    Exp Dermatol 15:265-82. 2006
    ..involved in cutaneous blistering in patients with autoimmune pemphigus, junctional and dystrophic forms of epidermolysis bullosa, thermal burns, and mustard-induced vesication...
  76. ncbi Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII
    Laura Väisänen
    Department of Dermatology, University of Oulu, Oulu, Finland
    J Invest Dermatol 125:1112-8. 2005
    Mutations in the collagen XVII gene, COL17A1, are associated with junctional epidermolysis bullosa. Most COL17A1 mutations lead to a premature termination codon (PTC), whereas only a few mutations result in amino acid substitutions or ..
  77. ncbi Recessive epidermolysis bullosa simplex phenotype reproduced in vitro: ablation of keratin 14 is partially compensated by keratin 17
    Abdoelwaheb El Ghalbzouri
    Department of Dermatology, Leiden University Medical Center, Sylvius Laboratory, 2300 RA Leiden, The Netherlands
    Am J Pathol 163:1771-9. 2003
    Recessive epidermolysis bullosa simplex (REBS) is characterized by generalized cutaneous blistering in response to mechanical trauma...
  78. ncbi Case records of the Massachusetts General Hospital. Case 32-2008. A 10-year-old girl with recurrent oral lesions and cutaneous bullae
    James G H Dinulos
    Department of Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
    N Engl J Med 359:1718-24. 2008
  79. ncbi Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation
    E Mabuchi
    Department of Dermatology, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita City, 565 0871 Osaka, Japan
    Br J Dermatol 157:596-8. 2007
    Non-Herlitz junctional epidermolysis bullosa (JEB-nH), a nonlethal variant of junctional epidermolysis bullosa (JEB), is an autosomal recessive disorder characterized by separation of the dermal-epidermal junction...
  80. ncbi Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta
    Hiroyuki Nakamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan
    Int J Mol Med 18:333-7. 2006
    Non-Herlitz junctional epidermolysis bullosa (nH-JEB) disease manifests with skin blistering, atrophy and tooth enamel hypoplasia. The majority of patients with nH-JEB harbor mutations in COL17A1, the gene encoding type XVII collagen...
  81. ncbi Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa
    Chang-Ling Fu
    J Invest Dermatol 126:232-4. 2006
  82. ncbi Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia
    L Pulkkinen
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Philadelphia, Pennsylvania 19107, USA
    Am J Pathol 152:935-41. 1998
    ..ITGA6 and ITGB4, respectively) have been previously demonstrated in patients with a lethal form of epidermolysis bullosa with congenital pyloric atresia (OMIM #226730)...
  83. ncbi Bone mineralization in children with epidermolysis bullosa
    M S Fewtrell
    MRC Childhool Nutrition Research Centre, Institute of Child Health, London WC1N 1EH, UK
    Br J Dermatol 154:959-62. 2006
    Various factors may have deleterious effects on bone health in patients with epidermolysis bullosa (EB).
  84. ncbi Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia
    S Iacovacci
    Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy
    Exp Dermatol 12:716-20. 2003
    In this study we examined two unrelated patients affected with the lethal variant of junctional epidermolysis bullosa with pyloric atresia (PA-JEB) who were found to carry mutations in the integrin beta4 subunit gene (ITGB4)...
  85. ncbi Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005
    Ellen G Pfendner
    GeneDx Inc, Gaithersburg, Maryland, USA
    Int J Dermatol 46:781-94. 2007
  86. ncbi Cleft lip and cleft palate closure in 13 month-old female with Epidermolysis Bullosa
    Figen Ozgur
    Department of Plastic and Reconstructive Surgery, Hacettepe University Medical School, Ankara, Turkey
    J Craniofac Surg 16:843-7. 2005
    Skin blistering and fragility are hallmarks of the rare hereditary disease called Epidermolysis Bullosa, affecting mainly the skin but also all mucocutaneous layers and sometimes the aerodigestive tract...
  87. ncbi Cutaneous gene transfer for skin and systemic diseases
    P A Khavari
    VA Palo Alto Healthcare System and the Program in Epithelial Biology, Stanford University School of Medicine, Stanford, CA, USA
    J Intern Med 252:1-10. 2002
    ..Recent advances in vector design, administration, immune modulation, and regulation of gene expression have brought the field much nearer to clinical utility...
  88. ncbi Oral-clinical findings and management of epidermolysis bullosa
    Filiz Namdar Pekiner
    Marmara University, Faculty of Dentistry, Department of Oral Diagnosis and Radiology, Istanbul, Turkey
    J Clin Pediatr Dent 30:59-65. 2005
    b>Epidermolysis bullosa (EB) is a diverse group of disorders that have as a common feature blister formation with tissue occuring at variable depths in the skin and/or mucosa...
  89. ncbi Epidermal basement membrane: its molecular organization and blistering disorders
    Takuji Masunaga
    Fundamental Research Laboratories, KOSE Corporation, Tokyo, Japan
    Connect Tissue Res 47:55-66. 2006
    ....
  90. ncbi Molecular basis of inherited skin-blistering disorders, and therapeutic implications
    Monique Aumailley
    Center for Biochemistry, Medical Faculty, and Center for Molecular Medicine Cologne, University of Cologne, Germany
    Expert Rev Mol Med 8:1-21. 2006
    b>Epidermolysis bullosa (EB) and associated skin-fragility syndromes are a group of inherited skin diseases characterised by trauma-induced blistering of the skin and mucous membranes...
  91. ncbi [Hereditary epidermolysis bullosa in Tunisia: an epidemio-clinical and ultrastructural study]
    F Cherif
    Service de Dermatologie, , Jabbari-Tunis, Tunisie
    Arch Inst Pasteur Tunis 82:53-8. 2005
    Hereditary epidermolysis bullosa (EB) are a group of genodermatoses whose common primary feature is formation of blisters following minor trauma...
  92. ncbi Intranasal clonidine as a premedicant: three cases with unique indications
    Michael J Stella
    Department of Anesthesiology, University of North Carolina Hospitals, Chapel Hill, NC 27599 7010, USA
    Paediatr Anaesth 18:71-3. 2008
    ..One patient was given clonidine as a premedicant. The third patient was treated for preoperative agitation and hypertension. All three patients had subjective resolution of indicated symptoms and none experienced adverse outcomes...
  93. ncbi Epidermolysis bullosa: new and emerging trends
    Shan Pai
    Department of Dermatology, Stanford University School of Medicine, Stanford, California 94305, USA
    Am J Clin Dermatol 3:371-80. 2002
    b>Epidermolysis bullosa is a family of inherited blistering skin disorders characterized by blister formation in response to mechanical trauma...
  94. ncbi Quality of life in epidermolysis bullosa
    H M Horn
    Royal Infirmary of Edinburgh, Edinburgh, UK
    Clin Exp Dermatol 27:707-10. 2002
    The quality of life of people with epidermolysis bullosa (EB) living in Scotland was assessed by postal questionnaire using the Dermatology Life Quality Index (DLQI) and the Children's Dermatology Life Quality Index (CDLQI)...
  95. ncbi [Bullae and blisters--differential diagnosis]
    C Schnopp
    Klinik und Poliklinik für Dermatologie am Biederstein TU München
    MMW Fortschr Med 149:29-32. 2007
    ..g. impetigo contagiosa, pemphigus foliaceus), intra-epidermal (e.g. pemphigus vulgaris, epidermolysis bullosa simplex), junctional (e.g. bullous pemphigoid) or subepidermal (epidermolysis bullosa dystrophica)...
  96. ncbi Response to review by Herod et al
    Warwick A Ames
    Paediatr Anaesth 13:370-1; author reply 371. 2003
  97. ncbi Epidermolysis bullosa in children: pathophysiology, anaesthesia and pain management
    Jane Herod
    Department of Anaesthesia, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Paediatr Anaesth 12:388-97. 2002
  98. ncbi Epidermolysis bullosa: management principles for the neonate, infant, and young child
    Lawrence Schachner
    Division of Pediatric Dermatology, University of Miami School of Medicine, Miami, FL, USA
    Dermatol Nurs 17:56-9. 2005
  99. ncbi Alpha 6 beta 4 integrin regulates keratinocyte chemotaxis through differential GTPase activation and antagonism of alpha 3 beta 1 integrin
    Alan J Russell
    Program in Epithelial Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
    J Cell Sci 116:3543-56. 2003
    ....
  100. ncbi The short arm of the laminin gamma2 chain plays a pivotal role in the incorporation of laminin 5 into the extracellular matrix and in cell adhesion
    L Gagnoux-Palacios
    Faculty of Medicine, U385 Institut National de la Santé et de la Recherche Médicale, Cedex 2, 06107 Nice, France
    J Cell Biol 153:835-50. 2001
    ....
  101. ncbi Human type VII collagen: cDNA cloning and chromosomal mapping of the gene
    M G Parente
    Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107
    Proc Natl Acad Sci U S A 88:6931-5. 1991
    ..in bacteriophage lambda gt11 was screened with the purified IgG fraction of serum from a patient with epidermolysis bullosa acquisita, which had a high titer of anti-type VII collagen antibodies...

Research Grants84

  1. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David Woodley; Fiscal Year: 2002
    Dystrophic forms of epidermolysis bullosa (EB) include an acquired autoimmune type of EB called EB and two genetic types, dominant (DDEB) and recessive (RDEB)...
  2. Keratin Gene Targeting for the Treatment of Epidermolysis Bullosa
    Daniel G Miller; Fiscal Year: 2010
    b>Epidermolysis Bullosa Simplex (EBS) is a debilitating, dominantly inherited skin blistering condition without an effective treatment...
  3. Role of autoantibody isotype in pemphigus pathogenesis
    Aimee S Payne; Fiscal Year: 2010
    ..As similar isotype profiles occur in pemphigoid, epidermolysis bullosa acquisita, and other chronic autoimmune conditions, our studies may have therapeutic relevance for a broad ..
  4. GORDON RESEARCH CONFERENCE ON BASEMENT MEMBRANES
    James Kramer; Fiscal Year: 2002
    ..g., epidermolysis bullosa of skin, congenital muscular dystrophy and associated nerve defects, Alport syndrome of kidney)...
  5. 2006 Gordon Research Conference on Basement Membranes
    JEFFREY MINER; Fiscal Year: 2006
    ..g. epidermolysis bullosa of skin, congenital muscular dystrophies with associated neural defects, and Alport and Pierson syndromes ..
  6. GORDON RESEARCH CONFERENCE ON BASEMENT MEMBRANES
    James Kramer; Fiscal Year: 2004
    ..g. epidermolysis bullosa of skin, congenital muscular dystrophies with associated neural defects, Alport syndrome of kidney)...
  7. Matrix Protein in Human Epidermal Neoplasia
    Robin Kimmel; Fiscal Year: 2006
    ..keratinocytes deficient in collagen XVII and collagen VII from patients with the inherited skin disease epidermolysis bullosa (EB) will be used to assess the tumor formation potential of deficient cells as compared to cells with ..
  8. Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
    MATT PETER MARINKOVICH; Fiscal Year: 2010
    b>Epidermolysis bullosa (EB) is a family of inherited genetic blistering skin disorders...
  9. Strategies Towards Gene Therapy for Dystrophic Epidermolysis Bullosa
    Mei Chen; Fiscal Year: 2009
    Dystrophic epidermolysis bullosa (DEB) is an incurable, inherited mechano-bullous disease of the skin characterized by skin fragility, blister formation, and chronic wounds...
  10. Protein Therapy for Junctional Epidermolysis Bullosa
    Vitali Alexeev; Fiscal Year: 2006
    Inherited epidermolysis bullosa (EB) is a mechanobullous disease, characterized by skin separation and the development of blisters following minor or insignificant trauma of the skin...
  11. Structural Studies of Triple-Helical Proteins
    Barbara Brodsky; Fiscal Year: 2006
    ..imperfecta) and of type VII collagen mutations leading to a blistering skin disease (dystrophoic form of epidermolysis bullosa)...