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 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
  2. doi 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
  3. 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
  4. 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
  5. doi Inherited epidermolysis bullosa: recent basic and clinical advances
    Jo David Fine
    Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37204, USA
    Curr Opin Pediatr 22:453-8. 2010
  6. doi Genitourinary tract involvement in epidermolysis bullosa
    Noor Almaani
    St John s Institute of Dermatology, Guy s and St Thomas NHS Foundation Trust, St Thomas Hospital, London, UK
    Dermatol Clin 28:343-6, xi. 2010
  7. 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
  8. 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
  9. doi Podiatric management in epidermolysis bullosa
    M Tariq Khan
    Marigold Clinic, Royal London Homeopathic Hospital, NHS Foundation Trust, London, UK
    Dermatol Clin 28:325-33, x-xi. 2010
  10. doi Epidermolysis bullosa: management of esophageal strictures and enteric access by gastrostomy
    Alan E Mortell
    Division of Pediatric and Thoracic Surgery, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
    Dermatol Clin 28:311-8, x. 2010

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. GENERAL CLINICAL RESEARCH CENTER
    STUART BOUDURANT; Fiscal Year: 1990
  4. Testing the Therapeutic Potential of iPS Cells for Inherited Skin Diseases
    Jakub Tolar; Fiscal Year: 2012
  5. PURIFICATION OF EPIDERMOLYSIS BULLOSA ACQUISITA ANTIGEN
    David Woodley; Fiscal Year: 1990
  6. PHENYTOIN PATHOGENESIS OF GINGIVAL OVERGROWTH
    Thomas Hassell; Fiscal Year: 1990
  7. Role of autoantibody isotype in pemphigus pathogenesis
    Aimee S Payne; Fiscal Year: 2010
  8. STRUCTURAL AND MUTATIONAL ANALYSIS OF THE LAMA3 GENE
    Angela Christiano; Fiscal Year: 1999
  9. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2003
  10. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2002

Detail Information

Publications250 found, 100 shown here

  1. 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...
  2. doi 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...
  3. 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...
  4. 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 ..
  5. doi Inherited epidermolysis bullosa: recent basic and clinical advances
    Jo David Fine
    Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37204, USA
    Curr Opin Pediatr 22:453-8. 2010
    This review highlights key findings, both clinical and basic, that have been published in the field of inherited epidermolysis bullosa within the past few years.
  6. doi Genitourinary tract involvement in epidermolysis bullosa
    Noor Almaani
    St John s Institute of Dermatology, Guy s and St Thomas NHS Foundation Trust, St Thomas Hospital, London, UK
    Dermatol Clin 28:343-6, xi. 2010
    Involvement of the genitourinary tract has been described in many different types of epidermolysis bullosa (EB)...
  7. 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)...
  8. 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...
  9. doi Podiatric management in epidermolysis bullosa
    M Tariq Khan
    Marigold Clinic, Royal London Homeopathic Hospital, NHS Foundation Trust, London, UK
    Dermatol Clin 28:325-33, x-xi. 2010
    b>Epidermolysis bullosa (EB) results from genetic defects of molecules in the skin concerned with adhesion. Some of the most common problems seen with EB sufferers are blisters, vesicles, and bullas...
  10. doi Epidermolysis bullosa: management of esophageal strictures and enteric access by gastrostomy
    Alan E Mortell
    Division of Pediatric and Thoracic Surgery, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
    Dermatol Clin 28:311-8, x. 2010
    b>Epidermolysis bullosa (EB) is a spectrum of rare, inherited, blistering skin disorders, primarily affecting the skin and pharyngoesophageal mucosa. EB affects approximately 2 to 4 per 100,000 children each year...
  11. 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, ..
  12. doi Lethal acantholytic epidermolysis bullosa
    John A McGrath
    St John s Institute of Dermatology, King s College London, Guy s Campus, London, UK
    Dermatol Clin 28:131-5. 2010
    Lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessive disorder caused by mutations in the gene encoding the desmosomal protein, desmoplakin (DSP)...
  13. 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...
  14. doi A systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa
    S M Langan
    Centre of Evidence Based Dermatology, University of Nottingham, Nottingham, UK
    Clin Exp Dermatol 34:20-5. 2009
    Many interventions have been described for inherited epidermolysis bullosa (EB), but it is unclear which are beneficial.
  15. doi Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report
    Irena Babić
    ENT Division, Department of Pediatric Surgery, Zagreb University Children s Hospital, Klaiceva 16, Zagreb, Croatia
    Int J Pediatr Otorhinolaryngol 74:302-5. 2010
    We report a rare case of a child with epidermolysis bullosa simplex (EBS) with plectin deficiency but without muscular dystrophy, with severe lesions of the oral cavity, oropharyngeal, hypopharyngeal, laryngeal, tracheal and bronchial ..
  16. ncbi Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa
    P B Cserhalmi-Friedman
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Arch Dermatol Res 289:640-5. 1997
    Dystrophic epidermolysis bullosa (DEB) is a genodermatosis characterized by fragility of the skin and mucous membranes...
  17. doi Quality of life in patients with epidermolysis bullosa
    S Tabolli
    Health Services Research Unit, Istituto Dermopatico dell Immacolata IRCCS, 00167 Rome, Italy
    Br J Dermatol 161:869-77. 2009
    b>Epidermolysis bullosa (EB) is a rare, inherited group of disorders characterized by blistering of the skin following friction or mechanical trauma. EB has a clinical and socioeconomic impact on patients and their families.
  18. ncbi [Inherited epidermolysis bullosa: from diagnosis to reality]
    A Hernandez-Martin
    Servicio de Dermatologia, Hospital Infantil del Niño Jesús, Madrid, Espana
    Actas Dermosifiliogr 101:495-505. 2010
    Inherited epidermolysis bullosa (EB) refers to a group of diseases that is well-known to dermatologists. The diagnosis of an EB disease, which is usually straightforward, is devastating for affected families...
  19. doi Concise review: Transplantation of human hematopoietic cells for extracellular matrix protein deficiency in epidermolysis bullosa
    Jakub Tolar
    Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Stem Cells 29:900-6. 2011
    ..compromised in people with congenital absence of structural proteins of the skin, such as in dystrophic epidermolysis bullosa, a severe congenital mechanobullous disorder caused by mutations in collagen type VII...
  20. doi Dilated cardiomyopathy in epidermolysis bullosa
    Irene Lara-Corrales
    The Hospital for Sick Children, Toronto, ON, Canada
    Dermatol Clin 28:347-51, xi. 2010
    Dilated cardiomyopathy (DC) is a rare but potentially fatal complication of epidermolysis bullosa. No clear cause for it has been identified, but iron overload, low carnitine, low selenium, concomitant viral illness, chronic anemia, and ..
  21. doi Osteopenia and osteoporosis in epidermolysis bullosa
    Anna E Martinez
    Department of Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Dermatol Clin 28:353-5, xi. 2010
    Patients with the more severe forms of epidermolysis bullosa (EB) are at risk of developing osteopenia, osteoporosis and fractures...
  22. doi Growth and pubertal delay in patients with epidermolysis bullosa
    Anna E Martinez
    Department of Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Dermatol Clin 28:357-9, xii. 2010
    ..Most children with severe types of epidermolysis bullosa have abnormal growth and pubertal delay. The possible pathophysiology is discussed.
  23. doi Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity
    Manuela Pigors
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, Freiburg 79104, Germany
    Hum Mol Genet 20:1811-9. 2011
    ..Adherens junction proteins were localized to keratinocyte plasma membrane, but did not provide proper cell-cell adhesion. This lethal congenital epidermolysis bullosa highlights the fundamental role of plakoglobin in epidermal cohesion.
  24. ncbi Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk
    Ellen G Pfendner
    Department of Dermatology, Jefferson Medical College and The Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia 19107, USA
    Prenat Diagn 23:447-56. 2003
    b>Epidermolysis bullosa (EB) is a group of inherited disorders characterized by increased skin fragility, resulting in blisters and erosions after minor trauma...
  25. 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)...
  26. doi Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart
    M C Bolling
    Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands
    Br J Dermatol 162:1388-94. 2010
    ..One of these phenotypes, lethal acantholytic epidermolysis bullosa (LAEB), is characterized by extensive postnatal shedding of epidermis leading to early demise and is ..
  27. doi Pain management in epidermolysis bullosa
    Kenneth R Goldschneider
    University of Cincinnati College of Medicine, Division of Pain Management, Department of Anesthesiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Dermatol Clin 28:273-82, ix. 2010
    Pain is an unfortunate constant in the lives of most patients with epidermolysis bullosa (EB), especially for those with the more severe types of EB...
  28. doi Treatment of severe hand deformities caused by epidermolysis bullosa
    Feng Tian
    Department of Orthopedics, Shengjing Hospital of China Medical University, Shenyang, China
    Orthopedics 34:e780-3. 2011
    Little research has been done regarding the treatment of severe hand deformities caused by epidermolysis bullosa. A 14-year-old boy was diagnosed with congenital epidermolysis bullosa...
  29. doi Nexus between epidermolysis bullosa and transcriptional regulation by thyroid hormone in epidermal keratinocytes
    Marjana Tomic-Canic
    The Departments of Dermatology and Biochemistry, and the NYU Cancer Institute, New York University School of Medicine, 550 First Avenue, New York, New York, USA
    Clin Transl Sci 1:45-9. 2008
    ..Significantly, genes associated with epidermolysis bullosa, a set of inherited blistering skin diseases, were found statistically highly overrepresented among the ..
  30. doi Nutrition for children with epidermolysis bullosa
    Lesley Haynes
    Dietetic Department, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Dermatol Clin 28:289-301, x. 2010
    ..and provision of the best possible overall quality of life are important management goals in children with epidermolysis bullosa. However, all these goals rely on the maintenance of optimal nutritional status, and achieving this is ..
  31. doi Oral care and dental management for patients with epidermolysis bullosa
    Susanne M Krämer
    Department of Oral Medicine and Special Needs Dentistry, UCL Eastman Dental Institute, London, UK
    Dermatol Clin 28:303-9, x. 2010
    Dental treatment is an important part of the multidisciplinary care of patients with epidermolysis bullosa (EB)...
  32. doi Infection and colonization in epidermolysis bullosa
    Jemima E Mellerio
    St John s Institute of Dermatology, Guy s and St Thomas NHS Foundation Trust, St Thomas Hospital, London, UK
    Dermatol Clin 28:267-9, ix. 2010
    In all forms of epidermolysis bullosa (EB), skin fragility may result in bacterial colonization or infection, particularly in the more severe forms where wounds may be multiple and long-standing...
  33. 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...
  34. pmc 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...
  35. doi 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...
  36. 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
  37. 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...
  38. 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...
  39. doi [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...
  40. pmc 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...
  41. 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...
  42. 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
    Large, asymmetrical and irregularly pigmented naevi in patients with epidermolysis bullosa (EB) have been reported often to mimic cutaneous melanoma clinically.
  43. ncbi Topical photodynamic therapy for Bowen's disease of the digit in epidermolysis bullosa
    C S Souza
    Br J Dermatol 153:672-4. 2005
  44. 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...
  45. 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...
  46. 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...
  47. doi Wound management for children with epidermolysis bullosa
    Jacqueline E Denyer
    Department of Dermatology, Great Ormond Street Hospital, London, UK
    Dermatol Clin 28:257-64, viii-ix. 2010
    Skin and wound care in epidermolysis bullosa (EB) is specific both to the type of EB and to individual wounds within each child. Availability of dressings and personal preference are also paramount in the selection of materials...
  48. doi Principles of wound care in patients with epidermolysis bullosa
    Irene Lara-Corrales
    Department of Dermatology, Hospital for Sick Children, Toronto, Ontario, Canada
    Pediatr Dermatol 27:229-37. 2010
    b>Epidermolysis bullosa comprises a series of hereditary skin fragility disorders characterized by blister formation in response to minor friction or trauma...
  49. 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
    ....
  50. 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...
  51. 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...
  52. 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...
  53. ncbi Pyloric atresia: report of two cases (one associated with epidermolysis bullosa and one associated with multiple intestinal atresias)
    Paolo Toma
    Radiology Department, G Gaslini Scientific Institute, Genoa, Italy
    Pediatr Radiol 32:552-5. 2002
    ....
  54. 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)...
  55. pmc 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...
  56. 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 ..
  57. pmc 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.
  58. 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, ..
  59. 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...
  60. 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
  61. 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...
  62. 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...
  63. 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
  64. 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...
  65. 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 ..
  66. 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 ..
  67. pmc 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).
  68. doi 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.
  69. 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...
  70. 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...
  71. 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 ..
  72. 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.
  73. 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)...
  74. ncbi Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome
    B J Bart
    Arch Dermatol 93:296-304. 1966
  75. 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...
  76. 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...
  77. 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)...
  78. doi 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.
  79. 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.
  80. 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.
  81. doi 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).
  82. 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...
  83. 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
  84. 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...
  85. 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...
  86. 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 ..
  87. 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...
  88. 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...
  89. 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
  90. 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...
  91. pmc 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...
  92. 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...
  93. 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 ..
  94. pmc 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...
  95. 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...
  96. 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...
  97. 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...
  98. 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...
  99. ncbi Cultured autologous keratinocyte grafting of chronic erosions in three patients with epidermolysis bullosa
    B Collin
    Clin Exp Dermatol 31:718-9. 2006
  100. 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...
  101. 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...

Research Grants85

  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
    DESCRIPTION (provided by applicant): Epidermolysis Bullosa Simplex (EBS) is a debilitating, dominantly inherited skin blistering condition without an effective treatment...
  3. GENERAL CLINICAL RESEARCH CENTER
    STUART BOUDURANT; Fiscal Year: 1990
    ..Varices; Physiology and Kinetics of Leukocytes; Intestinal Peptide Hydrolases; Chronic Active Hepatitis; Epidermolysis Bullosa; Home Intravenous Hyperalimentation; BCNU, Medrol, Procarbazine, and Radiotherapy in Treatment of Brain ..
  4. Testing the Therapeutic Potential of iPS Cells for Inherited Skin Diseases
    Jakub Tolar; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Epidermolysis bullosa (EB) is a group of rare inherited skin blistering diseases that result in severe blistering and scaring...
  5. PURIFICATION OF EPIDERMOLYSIS BULLOSA ACQUISITA ANTIGEN
    David Woodley; Fiscal Year: 1990
    b>Epidermolysis bullosa acquisita (EBA) is a severe blistering skin disease in which the epidermis separates from the dermis through the basement membrane zone (BMZ)...
  6. PHENYTOIN PATHOGENESIS OF GINGIVAL OVERGROWTH
    Thomas Hassell; Fiscal Year: 1990
    ..and clinically more significant fibrotic-hyperplastic connective tissue lesions such as burn scar, keloid, arthritis, scleroderma, epidermolysis bullosa, systemic lupus erythematosis. New concepts in wound healing may also evolve.
  7. 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 ..
  8. STRUCTURAL AND MUTATIONAL ANALYSIS OF THE LAMA3 GENE
    Angela Christiano; Fiscal Year: 1999
    ..and gamma2 chain gene (LAMC2) of laminin 5 have recently been shown to underlie the junctional forms of epidermolysis bullosa in some families...
  9. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2003
    ..of the cutaneous basement membrane zone (BMZ) towards delineating the molecular basis of various forms of epidermolysis bullosa (EB) and other selected genodermatoses affecting the epidermis...
  10. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2002
    ..of the cutaneous basement membrane zone (BMZ) towards delineating the molecular basis of various forms of epidermolysis bullosa (EB) and other selected genodermatoses affecting the epidermis...
  11. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2004
    ..of the cutaneous basement membrane zone (BMZ) towards delineating the molecular basis of various forms of epidermolysis bullosa (EB) and other selected genodermatoses affecting the epidermis...
  12. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2005
    ..of the cutaneous basement membrane zone (BMZ) towards delineating the molecular basis of various forms of epidermolysis bullosa (EB) and other selected genodermatoses affecting the epidermis...
  13. MATRIX DEGRADING PROTEINASES IN HUMAN SKIN DISORDERS
    Markku Kurkinen; Fiscal Year: 1990
    ..An example is the skin disorder known as recessive dystrophic epidermolysis bullosa (RDEB), where the loss is associated with increased expression of collagenase by the skin cells...
  14. Cell-Based Therapy for Dystrophic Epidermolysis Bullosa
    Olga Igoucheva; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Dystrophic epidermolysis bullosa (DEB) is an inherited mechanobullous disorder characterized by fragility of the skin and mucous membranes...
  15. THE BIOLOGICAL ROLE OF HUMAN TIMP IN MATRIX TURNOVER
    Howard Welgus; Fiscal Year: 1990
    ..The cellular expression of these proteins during fetal development, actinic injury and in connective tissue diseases, and epidermolysis bullosa will be studied.
  16. Laminin-based protein therapeutics for junctional epidermolysis bullosa
    Vitali Alexeev; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Inherited epidermolysis bullosa (EB) is a mechanobullous disease, characterized by the development of the blisters following minor or insignificant trauma of the skin...
  17. Protein Therapy for Recessive Dystrophic Epidermolysis Bullosa
    David T Woodley; Fiscal Year: 2010
    ..Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, inherited mechano- bullous disease of the skin characterized by skin fragility, ..
  18. TISSUE COLLAGENASE AND ITS CONTROL BY STEROIDS
    J Woessner; Fiscal Year: 1990
    ..in understanding normal processes such as embryo morphogenesis, skeletal remodeling and regeneration, as well as many disease processes such as cancer invasion and metastasis, arthritis, periodontitis, and epidermolysis bullosa.
  19. GENE EXPRESSION AND DIFFERENTIATION IN HUMAN EPIDERMIS
    Elaine Fuchs; Fiscal Year: 2000
    ..IF assembly-perturbing 14 or K10 mutants exhibit phenotypes similar to the blistering skin disorders, Epidermolysis Bullosa Simplex (EBS) or Epidermolytic Hyperkeratosis (EH), respectively...
  20. BASEMENT MEMBRANE PROTEOGLYCANS
    JOHN COUCHMAN; Fiscal Year: 2000
    ..g. dystrophic epidermolysis bullosa. Bamacan core protein has an unusual five domain head-rod-tail structure, not seen in any other matrix ..
  21. GENE EXPRESSION AND DIFFERENTIATION IN HUMAN EPIDERMIS
    Elaine Fuchs; Fiscal Year: 2003
    ..IF assembly-perturbing 14 or K10 mutants exhibit phenotypes similar to the blistering skin disorders, Epidermolysis Bullosa Simplex (EBS) or Epidermolytic Hyperkeratosis (EH), respectively...
  22. GENE EXPRESSION AND DIFFERENTIATION IN HUMAN EPIDERMIS
    Elaine Fuchs; Fiscal Year: 2002
    ..IF assembly-perturbing 14 or K10 mutants exhibit phenotypes similar to the blistering skin disorders, Epidermolysis Bullosa Simplex (EBS) or Epidermolytic Hyperkeratosis (EH), respectively...
  23. GENE EXPRESSION AND DIFFERENTIATION IN HUMAN EPIDERMIS
    Elaine Fuchs; Fiscal Year: 2002
    ..IF assembly-perturbing 14 or K10 mutants exhibit phenotypes similar to the blistering skin disorders, Epidermolysis Bullosa Simplex (EBS) or Epidermolytic Hyperkeratosis (EH), respectively...
  24. BASEMENT MEMBRANE PROTEOGLYCANS
    JOHN COUCHMAN; Fiscal Year: 2001
    ..g. dystrophic epidermolysis bullosa. Bamacan core protein has an unusual five domain head-rod-tail structure, not seen in any other matrix ..
  25. GENE EXPRESSION AND DIFFERENTIATION IN HUMAN EPIDERMIS
    Elaine Fuchs; Fiscal Year: 2001
    ..IF assembly-perturbing 14 or K10 mutants exhibit phenotypes similar to the blistering skin disorders, Epidermolysis Bullosa Simplex (EBS) or Epidermolytic Hyperkeratosis (EH), respectively...
  26. BASEMENT MEMBRANE PROTEOGLYCANS
    JOHN COUCHMAN; Fiscal Year: 1999
    ..g. dystrophic epidermolysis bullosa. Bamacan core protein has an unusual five domain head-rod-tail structure, not seen in any other matrix ..
  27. BIOCHEMISTRY OF THE NEURONAL CYTOSKELETON
    RONALD LIEM; Fiscal Year: 1993
    ..Recent studies on the genetic skin diseases, Epidermolysis Bullosa Simplex and Epidermolytic Hyperkeratosis point to non-life threatening, but still debilitating illnesses ..
  28. GENE EXPRESSION AND DIFFERENTIATION IN HUMAN EPIDERMIS
    Elaine Fuchs; Fiscal Year: 1999
    ..IF assembly-perturbing 14 or K10 mutants exhibit phenotypes similar to the blistering skin disorders, Epidermolysis Bullosa Simplex (EBS) or Epidermolytic Hyperkeratosis (EH), respectively...
  29. 3RD MEETING ON HERITABLE DISORDERS OF CONNECTIVE TISSUE
    Lynn Sakai; Fiscal Year: 2000
    ..Today epidermolysis bullosa (skin), muscular dystrophies (skeletal muscle), and Alport syndrome (kidney) can also be regarded as ..
  30. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David Woodley; Fiscal Year: 1999
    Dystrophic forms of epidermolysis bullosa (EB) include an acquired autoimmune type of EB called EB and two genetic types, dominant (DDEB) and recessive (RDEB)...
  31. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David Woodley; Fiscal Year: 2001
    Dystrophic forms of epidermolysis bullosa (EB) include an acquired autoimmune type of EB called EB and two genetic types, dominant (DDEB) and recessive (RDEB)...
  32. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David Woodley; Fiscal Year: 2000
    Dystrophic forms of epidermolysis bullosa (EB) include an acquired autoimmune type of EB called EB and two genetic types, dominant (DDEB) and recessive (RDEB)...
  33. 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)...
  34. 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 ..
  35. 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)...
  36. INTERDISCIPLINARY BASIC RESEARCH IN DERMATOLOGY
    Karen Holbrook; Fiscal Year: 1992
    ..The goal of project 6 (Stephens) is to map the gene responsible for the Weber-Cockayne subtype of epidermolysis bullosa (EB) simplex with the long term goal of cloning c)the gene and understanding the pathobiology of this form ..
  37. Matrix Protein in Human Epidermal Neoplasia
    Robin Kimmel; Fiscal Year: 2005
    ..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 ..
  38. 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 ..
  39. Matrix Protein in Human Epidermal Neoplasia
    Robin Kimmel; Fiscal Year: 2004
    ..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 ..
  40. Matrix Protein in Human Epidermal Neoplasia
    Robin Kimmel; Fiscal Year: 2003
    ..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 ..
  41. Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
    ALFRED LANE; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Epidermolysis bullosa (EB) is a family of inherited genetic blistering skin disorders...
  42. Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
    MATT PETER MARINKOVICH; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Epidermolysis bullosa (EB) is a family of inherited genetic blistering skin disorders...
  43. MOLECULAR GENETICS OF SKIN BASEMENT MEMBRANE ZONE IN EB
    Jouni Uitto; Fiscal Year: 2000
    ..of the cutaneous basement membrane zone (BMZ) towards delineating the molecular basis of various forms of epidermolysis bullosa (EB)...
  44. MOLECULAR GENETICS OF SKIN BASEMENT MEMBRANE ZONE IN EB
    Jouni Uitto; Fiscal Year: 1999
    ..of the cutaneous basement membrane zone (BMZ) towards delineating the molecular basis of various forms of epidermolysis bullosa (EB)...
  45. MOLECULAR GENETICS OF SKIN BASEMENT MEMBRANE ZONE IN EB
    Jouni Uitto; Fiscal Year: 2001
    ..of the cutaneous basement membrane zone (BMZ) towards delineating the molecular basis of various forms of epidermolysis bullosa (EB)...
  46. Strategies Towards Gene Therapy for Dystrophic Epidermolysis Bullosa
    Mei Chen; Fiscal Year: 2005
    Dystrophic epidermolysis bullosa (DEB) is an incurable, inherited mechano-bullous disease of the skin characterized by skin fragility, blister formation, and chronic wounds...
  47. Strategies Towards Gene Therapy for Dystrophic Epidermolysis Bullosa
    Mei Chen; Fiscal Year: 2007
    Dystrophic epidermolysis bullosa (DEB) is an incurable, inherited mechano-bullous disease of the skin characterized by skin fragility, blister formation, and chronic wounds...
  48. 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...
  49. Strategies Towards Gene Therapy for Dystrophic Epidermolysis Bullosa
    Mei Chen; Fiscal Year: 2006
    Dystrophic epidermolysis bullosa (DEB) is an incurable, inherited mechano-bullous disease of the skin characterized by skin fragility, blister formation, and chronic wounds...
  50. Somatic Mosaicism in the Wiskott-Aldrich Syndrome
    Brian R Davis; Fiscal Year: 2010
    ..g. Wiskott-Aldrich Syndrome [WAS], X-linked Severe Combined Immunodeficiency), Fanconi Anemia, Epidermolysis Bullosa, and Tyrosinemia...
  51. Human Induced Pluripotent Stem Cells To Investigate Inherited Skin Diseases
    LOUISE CHOW; Fiscal Year: 2009
    ..Dominant mutations in keratin 5 or keratin 14 genes identified in epidermolysis bullosa simplex patients will be introduced into iPS cells (or human fibroblasts prior to derivation of iPS cells) ..
  52. Somatic Mosaicism in the Wiskott-Aldrich Syndrome
    Brian Davis; Fiscal Year: 2009
    ..g. Wiskott-Aldrich Syndrome [WAS], X-linked Severe Combined Immunodeficiency), Fanconi Anemia, Epidermolysis Bullosa, and Tyrosinemia...
  53. CHARACTERIZATION OF SUB-EPITHELIAL ANTIGENS
    ROBERT BURGESON; Fiscal Year: 1990
    ..Failure of this attachment complex results in several forms of the blistering diseases jointly termed Epidermolysis Bullosa (EB)...
  54. 1H-MRS STUDY OF TUMORIGENESIS & MALIGNANT TRANSFORMATION
    Youn Hee Kim; Fiscal Year: 1991
    ..dysplastic nevus or melanoma, giant congenital melanocytic nevus, xeroderma pigmentosum, and dystrophic epidermolysis bullosa patients, whose risk for developing malignant tumors is much higher than that in the general population...
  55. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David Woodley; Fiscal Year: 2004
    ..Dystrophic Epidermolysis Bullosa (DEB) is due to mutations in COL7A1, the gene that encodes for type VII collagen...
  56. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David Woodley; Fiscal Year: 2003
    ..Dystrophic Epidermolysis Bullosa (DEB) is due to mutations in COL7A1, the gene that encodes for type VII collagen...
  57. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David Woodley; Fiscal Year: 2006
    ..Dystrophic Epidermolysis Bullosa (DEB) is due to mutations in COL7A1, the gene that encodes for type VII collagen...
  58. DENTAL ANALYSIS OF EPIDERMOLYSIS BULLOSA
    John Wright; Fiscal Year: 1991
    b>Epidermolysis bullosa (EB) is characterized by mechanical fragility of the skin which can result in blistering of any epithelial surface with subsequent scar formation and contractures...
  59. 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...
  60. Protein Therapy for Junctional Epidermolysis Bullosa
    Vitali Alexeev; Fiscal Year: 2005
    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...
  61. SKIN BASEMENT MEMBRANE ZONE AND EPIDERMOLYSIS BULLOSA
    Jo David Fine; Fiscal Year: 1991
    ..more of these antigens in the pathogenesis of lesions in selected bullous diseases, most notably inherited epidermolysis bullosa (EB)...
  62. DEVELOPMENT OF GENE THERAPY FOR EPIDERMOLYSIS BULLOSA
    Kyonggeun Yoon; Fiscal Year: 2002
    ..Furthermore, a capability to establish cells containing a specific alteration will provide valuable cellular models in skin biology...
  63. Structural Studies of Triple-Helical Proteins
    Barbara Brodsky; Fiscal Year: 2004
    ..imperfecta) and of type VII collagen mutations leading to a blistering skin disease (dystrophoic form of epidermolysis bullosa)...
  64. 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)...
  65. Structural Studies of Triple-Helical Proteins
    Barbara Brodsky; Fiscal Year: 2005
    ..imperfecta) and of type VII collagen mutations leading to a blistering skin disease (dystrophoic form of epidermolysis bullosa)...
  66. Structural Studies of Triple-Helical Proteins
    Barbara Brodsky; Fiscal Year: 2003
    ..imperfecta) and of type VII collagen mutations leading to a blistering skin disease (dystrophoic form of epidermolysis bullosa)...