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. 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
  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 Immunological mapping in hereditary epidermolysis bullosa
    Zilda Najjar Prado de Oliveira
    Department of Dermatology, School of Medicine, University of Sao Paulo, Brazil
    An Bras Dermatol 85:856-61. 2010
  5. pmc Inherited epidermolysis bullosa
    Jo David Fine
    Department of Medicine Dermatology, Vanderbilt University School of Medicine, Head, National Epidermolysis Bullosa Registry Nashville, TN, USA
    Orphanet J Rare Dis 5:12. 2010
  6. 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
  7. ncbi Kindler syndrome: extension of FERMT1 mutational spectrum and natural history
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Hum Mutat 32:1204-12. 2011
  8. ncbi Inherited epidermolysis bullosa: new diagnostic criteria and classification
    Lizbeth R A Intong
    Department of Dermatology, St George Hospital and The University of New South Wales, Australia
    Clin Dermatol 30:70-7. 2012
  9. ncbi 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
  10. ncbi Overview of epidermolysis bullosa
    Daisuke Sawamura
    Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
    J Dermatol 37:214-9. 2010

Detail Information

Publications281 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. 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...
  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 Immunological mapping in hereditary epidermolysis bullosa
    Zilda Najjar Prado de Oliveira
    Department of Dermatology, School of Medicine, University of Sao Paulo, Brazil
    An Bras Dermatol 85:856-61. 2010
    ..technique, is currently the method most used to diagnose and differentiate the principal types of hereditary epidermolysis bullosa, since this technique is capable of determining the level of cleavage of this mechanobullous disease.
  5. pmc Inherited epidermolysis bullosa
    Jo David Fine
    Department of Medicine Dermatology, Vanderbilt University School of Medicine, Head, National Epidermolysis Bullosa Registry Nashville, TN, USA
    Orphanet J Rare Dis 5:12. 2010
    Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues...
  6. 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...
  7. ncbi Kindler syndrome: extension of FERMT1 mutational spectrum and natural history
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Hum Mutat 32:1204-12. 2011
    ..Environmental factors and yet unidentified modifiers may play a role. Better understanding of the molecular pathogenesis of KS should enable the development of prevention strategies for disease complications...
  8. ncbi Inherited epidermolysis bullosa: new diagnostic criteria and classification
    Lizbeth R A Intong
    Department of Dermatology, St George Hospital and The University of New South Wales, Australia
    Clin Dermatol 30:70-7. 2012
    b>Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders caused by mutations in various structural proteins in the skin...
  9. ncbi 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.
  10. ncbi Overview of epidermolysis bullosa
    Daisuke Sawamura
    Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
    J Dermatol 37:214-9. 2010
    b>Epidermolysis bullosa (EB) is classified into major types - EB simplex (EBS), junctional EB (JEB) and dystrophic EB (DEB) - on the basis of the level of tissue separation within the cutaneous basement membrane zone...
  11. ncbi 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 ..
  12. 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 ..
  13. 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)...
  14. ncbi Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa
    J D Fine
    The National Epidermolysis Bullosa Registry NEBR, Lexington, KY, USA
    Clin Exp Dermatol 29:122-7. 2004
    ..pain in 140 randomly chosen children, who were representative of all major types and subtypes of inherited epidermolysis bullosa (EB). Pain status in these children was compared with 374 randomly selected adults with EB...
  15. ncbi 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...
  16. ncbi Psychiatric symptoms and quality of life in patients affected by epidermolysis bullosa
    Francesco Margari
    Department of Neurologic and Psychiatric Sciences, University of Bari, Policlinico P zza Giulio Cesare, 70124 Bari, Italy
    J Clin Psychol Med Settings 17:333-9. 2010
    The aim of our study was to provide a psychosocial and psychiatric evaluation of patients with epidermolysis bullosa (EB; a rare genetic disorder characterized by skin fragility), to assess psychological status, ascertain the presence of ..
  17. 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...
  18. 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...
  19. 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...
  20. ncbi Treatment of skin cancers in epidermolysis bullosa
    Supriya S Venugopal
    Department of Dermatology, St George Hospital, University of New South Wales, Kogarah, Sydney, NSW, Australia
    Dermatol Clin 28:283-7, ix-x. 2010
    Squamous cell carcinomas (SCCs) are highly aggressive in patients with epidermolysis bullosa (EB)...
  21. ncbi 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...
  22. ncbi Medical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005
    Jemima E Mellerio
    St John s Institute of Dermatology, St Thomas Hospital, London, UK, and Stanford University School of Medicine, CA, USA
    Int J Dermatol 46:795-800. 2007
  23. ncbi 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.
  24. ncbi 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...
  25. ncbi Inherited epidermolysis bullosa: past, present, and future
    Jo David Fine
    Department of Medicine Dermatology, Vanderbilt University School of Medicine, National Epidermolysis Bullosa Registry, Nashville, TN, USA
    Ann N Y Acad Sci 1194:213-22. 2010
    Inherited epidermolysis bullosa encompasses dozens of diseases characterized by mechanical fragility of the skin, blister formation, and abnormal wound healing...
  26. ncbi 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...
  27. ncbi 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.
  28. pmc Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification
    Yinghong He
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Freiburg, Germany
    Am J Pathol 178:975-82. 2011
    ..This first example of environmental regulation of kindlin expression has implications for phenotype modulation in Kindler syndrome, a skin disorder caused by kindlin-1 deficiency...
  29. ncbi 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...
  30. ncbi Transition from paediatric to adult service in epidermolysis bullosa
    Lesley Foster
    Great Ormond St Children s Hospital, London
    Br J Nurs 16:244-6. 2007
    ..care arrangements established at Great Ormond Street Hospital to address the needs of children with severe epidermolysis bullosa as they move on to adult care...
  31. ncbi 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.
  32. 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, ..
  33. ncbi Inherited epidermolysis bullosa - the spectrum of complications
    Slobodna Murat-Susić
    University Hospital Center Zagreb, Department of Dermatology and Venereology School of Medicine University of Zagreb, Croatia
    Acta Dermatovenerol Croat 19:255-63. 2011
    b>Epidermolysis bullosa is a group of inherited diseases that are characterized by skin and mucosal fragility and blister formation...
  34. ncbi Partial loss of epithelial phenotype in kindlin-1-deficient keratinocytes
    Haiyan Qu
    Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany
    Am J Pathol 180:1581-92. 2012
    ..Moreover, the constellation of molecular defects associated with the loss of kindlin-1 may explain the higher incidence of skin cancer observed in patients affected with this disorder...
  35. ncbi 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)...
  36. 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...
  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 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...
  39. 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.
  40. ncbi Kindler syndrome
    Joey E Lai-Cheong
    Division of Genetics and Molecular Medicine, St John s Institute of Dermatology, King s College London, Floor 9 Tower Wing, Guy s Hospital, Great Maze Pond, London SE1 9RT, UK
    Dermatol Clin 28:119-24. 2010
    ..Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB...
  41. pmc Oral manifestations in the epidermolysis bullosa spectrum
    J Timothy Wright
    Department of Pediatric Dentistry, School of Dentistry, Brauer Hall 7450, The University of North Carolina, Chapel Hill, NC 27599 7450, USA
    Dermatol Clin 28:159-64. 2010
    The craniofacial and oral manifestations of the different epidermolysis bullosa (EB) types vary markedly in character and severity depending largely on the EB type...
  42. ncbi Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4-6, 2008
    Kenneth Goldschneider
    Division of Pain Management, Department of Anesthesiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Paediatr Anaesth 20:797-804. 2010
    b>Epidermolysis bullosa (EB) has become recognized as a multisystem disorder that poses a number of pre-, intra-, and postoperative challenges...
  43. ncbi Anesthesia and epidermolysis bullosa
    Reema Nandi
    Department of Anesthesia, Great Ormond Street Hospital for Children, London, UK
    Dermatol Clin 28:319-24, x. 2010
    Patients with epidermolysis bullosa (EB) may present for anesthesia with an unrelated surgical condition or, more commonly, for diagnostic or therapeutic procedures. Children in particular may require frequent anesthetics...
  44. ncbi Alopecia in epidermolysis bullosa
    Antonella Tosti
    Department of Dermatology, University of Bologna, Via Massarenti, 1 40138, Bologna, Italy
    Dermatol Clin 28:165-9. 2010
    Hair abnormalities observed in epidermolysis bullosa (EB) are of variable severity and include mild hair shaft abnormalities, patchy cicatricial alopecia, cicatricial alopecia with a male pattern distribution, and alopecia universalis...
  45. 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
  46. ncbi Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the li
    Ningning Dang
    Department of Dermatology, St George Hospital, Sydney, Australia
    Acta Derm Venereol 88:438-48. 2008
    Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is an autosomal recessive blistering disease including lethal and non-lethal variants due to mutations in ITGB4 and ITGA6...
  47. ncbi Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function
    Maria Anna M A D'Souza
    Children s Centre for Burns Research, The University of Queensland, Queensland Children s Medical Research Institute, L 4 RCH Foundation Building, Herston, Brisbane, Queensland 4029, Australia
    Dermatol Clin 28:115-8. 2010
    ..The complete range of FFH1 functions in skin and other epithelia has yet to be determined...
  48. ncbi Molecular genetic assays for inherited epidermolysis bullosa
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Clin Dermatol 29:420-6. 2011
    b>Epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders, characterized by blistering of skin and mucosal membranes under normal mechanical stress conditions...
  49. ncbi Nail involvement in epidermolysis bullosa
    Antonella Tosti
    Department of Dermatology, Bologna University, Via Massarenti, 1, Bologna 40138, Italy
    Dermatol Clin 28:153-7. 2010
    Nail abnormalities are a common feature in most subtypes of epidermolysis bullosa (EB), and they recently have been included among the criteria for scoring EB severity...
  50. ncbi Management of epidermolysis bullosa in infants and children
    Ysabel M Bello
    Department of Dermatology and Cutaneous Surgery, University of Miami School of Medicine, Miami, Florida 33101, USA
    Clin Dermatol 21:278-82. 2003
  51. pmc A consensus approach to wound care in epidermolysis bullosa
    Elena Pope
    Section of Dermatology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
    J Am Acad Dermatol 67:904-17. 2012
    Wound care is the cornerstone of treatment for patients with epidermolysis bullosa (EB); however, there are currently no guidelines to help practitioners care for these patients.
  52. pmc A direct method to determine the strength of the dermal-epidermal junction in a mouse model for epidermolysis bullosa
    Thomas J Sproule
    The Jackson Laboratory, Bar Harbor, ME, USA
    Exp Dermatol 21:453-5. 2012
    b>Epidermolysis bullosa (EB) describes a spectrum of rare, incurable, inherited mechanobullous disorders unified by the fact that they are caused by structural defects in the basement membrane zone which disrupt adhesion between the ..
  53. ncbi The psychosocial impact of chronic wounds on patients with severe epidermolysis bullosa
    T Adni
    EB Service, Dermatology Department, Heart of England NHS Foundation Trust, UK
    J Wound Care 21:528, 530-6, 538. 2012
    ..To explore the lived experience of individuals with chronic wounds associated with dystrophic and junctional epidermolysis bullosa (EB),to improve understanding and, therefore, enhance the care provided to this group of patients by ..
  54. ncbi Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations
    H Schumann
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Br J Dermatol 169:115-24. 2013
    ..Mutations in the ITGA6 and ITGB4 genes coding for α6β4 integrin compromise dermal-epidermal adhesion and are associated with skin blistering and pyloric atresia (PA), a disorder known as epidermolysis bullosa with PA (EB-PA).
  55. ncbi Kindler syndrome: a focal adhesion genodermatosis
    J E Lai-Cheong
    Genetic Skin Disease Group, St John s Institute of Dermatology, King s College London, Guy s Campus, London SE1 9RT, UK
    Br J Dermatol 160:233-42. 2009
    ..Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abnormalities...
  56. ncbi Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer
    C Has
    Department of Dermatology, University Medical Centre Freiburg, Freiburg, Germany
    Dermatology 221:309-12. 2010
    ..Taken together, we describe the natural course of KS, the morphological abnormalities occurring in the skin of older KS patients, we discuss the differential diagnosis and the association between KS and squamous cell carcinoma...
  57. pmc Inherited epidermolysis bullosa: clinical and therapeutic aspects
    Vanessa Lys Simas Yamakawa Boeira
    Federal University of Bahia UFBA, Salvador, BA, Brazil
    An Bras Dermatol 88:185-98. 2013
    Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or ..
  58. 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
  59. pmc Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3
    Anna M G Pasmooij
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, NL 9700 RB Groningen, The Netherlands
    J Clin Invest 117:1240-8. 2007
    ..mosaicism due to in vivo reversion of an inherited mutation has been described in the genetic skin disease epidermolysis bullosa (EB) for the genes KRT14 and COL17A1...
  60. ncbi Epidermolysis bullosa care in Italy
    Daniele Castiglia
    Laboratory of Molecular and Cell Biology, IDI IRCCS, Rome, Italy
    Dermatol Clin 28:407-9, xiv-xv. 2010
    b>Epidermolysis bullosa (EB) has officially been recognized as a rare disease in Italy. Regional reference centers for EB have been created during the past years...
  61. ncbi Epidermolysis bullosa care in Germany
    Leena Bruckner-Tuderman
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Dermatol Clin 28:405-6, xiv. 2010
    Until 2003, no structures existed in Germany for special care of patients with rare diseases, such as epidermolysis bullosa (EB)...
  62. ncbi Epidermolysis bullosa care in the United Kingdom
    Jemima E Mellerio
    St John s Institute of Dermatology, Guy s and St Thomas NHS Foundation Trust, St Thomas Hospital, London, UK
    Dermatol Clin 28:395-6, xiv. 2010
    There are approximately 5,000 people with epidermolysis bullosa (EB) in the United Kingdom...
  63. ncbi Epidermolysis bullosa care in Canada
    Elena Pope
    The Hospital for Sick Children, Toronto, ON, Canada
    Dermatol Clin 28:391-2, xiii. 2010
    Based on the described prevalence and size of the population, approximately 300 to 500 patients with epidermolysis bullosa (EB) reside in Canada...
  64. 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).
  65. ncbi Epidermolysis bullosa pruriginosa triggered by scabies infestation
    Jaehwan Kim
    Department of Dermatology, St George Hospital, Sydney, New South Wales, Australia
    J Dermatol 40:562-3. 2013
    b>Epidermolysis bullosa pruriginosa (EB-Pr) is an unusual variant of dystrophic EB. Potential genetic disease modifiers and metabolic factors have been investigated, but thus far no specific insight into this phenotype has emerged...
  66. ncbi Interdisciplinary management of epidermolysis bullosa in the public setting: the Netherlands as a model of care
    José C Duipmans
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Dermatol Clin 28:383-6, xiii. 2010
    ..and his or her family and tailored to the severity of the disease, is most beneficial to the patient with epidermolysis bullosa (EB)...
  67. ncbi 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 ..
  68. 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...
  69. ncbi 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 ..
  70. ncbi 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)...
  71. 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...
  72. ncbi 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.
  73. ncbi 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...
  74. 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...
  75. 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)...
  76. 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...
  77. ncbi 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)...
  78. ncbi 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 ..
  79. ncbi 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...
  80. ncbi 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 ..
  81. 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...
  82. 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...
  83. 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
  84. 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...
  85. 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...
  86. 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...
  87. 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...
  88. ncbi Topical photodynamic therapy for Bowen's disease of the digit in epidermolysis bullosa
    C S Souza
    Br J Dermatol 153:672-4. 2005
  89. 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...
  90. 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
    ....
  91. 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...
  92. ncbi 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...
  93. 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...
  94. 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.
  95. ncbi 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...
  96. 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...
  97. 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...
  98. 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...
  99. 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...
  100. 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...
  101. 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
    ....

Research Grants63

  1. Testing the Therapeutic Potential of iPS Cells for Inherited Skin Diseases
    Jakub Tolar; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Epidermolysis bullosa (EB) is a group of rare inherited skin blistering diseases that result in severe blistering and scaring...
  2. 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, ..
  3. Skin-targeted Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa
    Jakub Tolar; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Recessive dystrophic epidermolysis bullosa (RDEB) is caused by loss-of-function mutations in the collagen type VII (C7) gene (COL7A1), and results in a potentially fatal and terribly debilitating ..
  4. Mechanism of skin-specific targeting of adult stem cells
    Olga Igoucheva; Fiscal Year: 2013
    ..Dystrophic epidermolysis bullosa (DEB) is an inherited mechanobullous disorder characterized by fragility of the skin and mucous membranes...
  5. Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
    MATT PETER MARINKOVICH; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Epidermolysis bullosa (EB) is a family of inherited genetic blistering skin disorders...
  6. Keratin Gene Targeting for the Treatment of Epidermolysis Bullosa
    Daniel G Miller; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Epidermolysis Bullosa Simplex (EBS) is a debilitating, dominantly inherited skin blistering condition without an effective treatment...
  7. Role of autoantibody isotype in pemphigus pathogenesis
    Aimee S Payne; Fiscal Year: 2013
    ..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. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David T Woodley; Fiscal Year: 2012
    ..Dystrophic Epidermolysis Bullosa (DEB), due to mutations in the gene that encodes for C7 (COL7A1) may be inherited in a dominant or ..
  9. Translational Opportunities for the Heritable Disorders of Connective Tissue
    Lynn Y Sakai; Fiscal Year: 2011
    ..include the Osteogenesis Imperfecta Foundation, Pseudoxanthoma Elasticum (PXE) International, Dystrophic Epidermolysis Bullosa Research Association of America (DebRA), the Ehlers-Danlos National Foundation, the Little People of ..
  10. 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...
  11. Molecular Genetics of the Cutaneous BMZ in EB
    Jouni Uitto; Fiscal Year: 2012
    ..cDNA constructs encoding recombinant procollagen VII mutants analogous to those found in dystrophic epidermolysis bullosa patients in addition to recombinant wild type procollagen VII and other skin- specific markers...
  12. Phase Ib trial of TD101 siRNA for pachyonychia congenita (IND 77,504, 12-03-07)
    Sancy Leachman; Fiscal Year: 2009
    ..mutations with expression in limited, defined areas) for an initial siRNA clinical trial and the lessons learned should be readily generalized to other skin disorders including rare disorders such as epidermolysis bullosa simplex.
  13. Theoretical Studies of Peptide Structures
    JOSEPH J DANNENBERG; Fiscal Year: 2012
    ..imperfecta, Ehlers-Danlos syndrome, Alport syndrome, Schmid metaphyseal chondrodysplasia and dystrophic epidermolysis bullosa) and the protein tau (involved in Alzheimer's disease)...
  14. 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.
  15. Pediatric Dermatology Research Alliance Annual Conference
    Wynnis L Tom; Fiscal Year: 2013
    ..and therapeutic opportunities in four disease- specific areas: inflammatory skin diseases, hemangiomas, epidermolysis bullosa, and disorders of keratinization...
  16. 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...
  17. 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...
  18. 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...
  19. 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 ..
  20. 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 ..
  21. 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)...
  22. 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)...
  23. 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...
  24. 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 ..
  25. SKIN BASEMENT MEMBRANE ZONE AND EPIDERMOLYSIS BULLOSA
    Jo David Fine; Fiscal Year: 1993
    ..more of these antigens in the pathogenesis of lesions in selected bullous diseases, most notably inherited epidermolysis bullosa (EB)...
  26. EPIDERMAL MACROMOLECULAR METABOLISM
    Irwin Freedberg; Fiscal Year: 1999
    ..knowledge of the structural abnormalities in keratin synthesis and their relationship to diseases such as epidermolysis bullosa simplex and epidermolytic hyperkeratosis...
  27. 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...
  28. Fibrogenic factors in ocular cicatricial pemphigoid
    A Ahmed; Fiscal Year: 2004
    ..Investigators studying ocular scarring in toxic epidermolysis necrosis, Steven-Johnson syndrome, epidermolysis bullosa acquisita, and other similar diseases will significantly benefit from these experiments...
  29. HEMIDESMOSOMES IN BULLOUS PEMPHIGOID
    GEORGE GIUDICE; Fiscal Year: 2007
    ..defects in COL17A1, the gene encoding BP180, are responsible for a subset of non-Herlitz junctional epidermolysis bullosa (JEB-nh), a subepidermal blistering disease...
  30. 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 ..
  31. PURIFICATION & STUDY OF HUMAN KERATINOCYTE COLLAGENASE
    Marta Petersen; Fiscal Year: 1991
    ..collagenase is thought to contribute to the pathogenesis of the inherited blistering disorder, dystrophic epidermolysis bullosa (RDEB)...
  32. GENOTYPE CORRELATES AND CLINICAL TRIALS IN INHERITED EB
    Jo David Fine; Fiscal Year: 2002
    Inherited epidermolysis bullosa (EB) encompasses those diseases characterized by mechanically fragile skin and the tendency for blister formation...
  33. In vivo Gene Correction of Keratin 14 Gene in EBS Mouse
    Olga Igoucheva; Fiscal Year: 2007
    ..results, we propose to correct the dominant mutation in murine keratin 14 gene found in Dowling-Meara Epidermolysis Bullosa Simplex (EBS) patients. Recently, Dr...
  34. TESTING GENE THERAPY FOR EPIDERMOLYSIS BULLOSA SIMPLEX
    DENNIS ROOP; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): [unreadable] The Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) is a severe blistering disease inherited in an autosomal-dominant fashion...
  35. MOUSE MODELS FOR GENE THERAPY AND JUNCTIONAL EB
    Leena Pulkkinen; Fiscal Year: 2002
    The overall goal of this project is to develop conventional and conditional mouse models for junctional epidermolysis bullosa (JEB) by disrupting or affecting the expression of the gamma2 chain gene (LAMC2) of laminin 5 using Cre/loxP ..
  36. SUBEPITHELIAL ANTIGENS
    ROBERT BURGESON; Fiscal Year: 2001
    ..We know that kalinin is absent from the basement membrane zone of patients with lethal epidermolysis bullosa. Kalinin is a cell adhesion macromolecule specific for certain types of epithelial cells including ..
  37. GORDON RESEARCH CONFERENCE ON BASEMENT MEMBRANCES
    Louis Reichardt; Fiscal Year: 2000
    ..g. epidermolysis bullosa of skin, congenital muscular dystrophy, Alport's syndrome of kidney)...
  38. LAMININ 8 AND LAMININ 10 IN CUTANEOUS WOUND ANGIOGENES*
    Jie Li; Fiscal Year: 2006
    ..The biomedical importance of laminins is best illustrated by human severe blistering disease, epidermolysis bullosa, due to the deficiency of laminin 5 and subsequent failure of wound repair...
  39. SYNTHETIC COLLAGENASE INHIBITORS
    Robert Gray; Fiscal Year: 1990
    ..might be therapeutically useful are periodontal disease, corneal ulceration and recessive dystrophic epidermolysis bullosa. In addition, collagenases have been implicated in tumor cell metastasis, ovulation, angiogenesis, and ..
  40. UTILIZATION OF EPIDERMAL CELL MODEL FROM SKIN
    ROBERT BRIGGAMAN; Fiscal Year: 1999
    ..We will also examine a possible role of linkin in pathologic processes involving the skin such as lupus erythematosus and the inherited blistering disease, epidermolysis bullosa dystrophica.
  41. Gene therapy model for dystrophic epidermolysis bullosa
    PETER CSERHALMI FRIEDMAN; Fiscal Year: 2004
    DESCRIPTION (Taken from the application): The dominantly inherited form of dystrophic epidermolysis bullosa (DDEB), a mechanobullous disease which presents with blister formation in the skin, is the result of dominant negative mutations ..
  42. UTILIZATION OF EPIDERMAL CELL MODEL FROM HUMAN SKIN
    ROBERT BRIGGAMAN; Fiscal Year: 1990
    ..We will also examine a possible role of linkin in pathologic processes involving the skin such as lupus erythematosus and the inherited blistering disease, epidermolysis bullosa dystrophica.
  43. MAPPING GENETIC KNOWLEDGE--AN ANTHROPOLOGICAL STUDY
    DEBORAH HEATH; Fiscal Year: 1999
    ..connective tissue disorders: 1) Marfan syndrome; 2) chondrodysplasia, 3) osteogenesis imperfecta, and 4) epidermolysis bullosa. Using anthropological methods of participant observation and interviews, the study will investigate the ..
  44. Development of Model for Gene Therapy in DDEB
    PETER CSERHALMI FRIEDMAN; Fiscal Year: 2001
    DESCRIPTION (Taken from the applicant's abstract): The dominantly inherited form of dystrophic epidermolysis bullosa (DDEB), a mechanobullous disease which presents blister with formation in the skin, is the result of dominant-negative ..
  45. CHARACTERIZATION OF A NEW HUMAN COLLAGEN
    ROBERT BURGESON; Fiscal Year: 1991
    ..This concept is strengthened by the finding that individuals with the disease of recessive dystropic Epidermolysis Bullosa, characterized by spontaneous separation of the epithelia from the stroma through the plane of the ..
  46. CANDIDATE PROTEIN CLONES IN EB
    EUGENE BAUER; Fiscal Year: 1992
    ..focus on characterizing candidate proteins of potential importance in pathophysiologic events involved in epidermolysis bullosa (EB)...
  47. BMZ BIOLOGY AND PATHOLOGY IN EB SYMPOSIUM
    Jouni Uitto; Fiscal Year: 1991
    ..grant application is for partial support to a scientific symposium designed to address issues related to epidermolysis bullosa (EB), a group of heritable mechano-bullous disorders characterized by extreme fragility of the skin and ..
  48. Accurate Epithelial/Mesenchyme Skin Organ Construction
    WARREN HOEFFLER; Fiscal Year: 2004
    ..the ability to reconstruct diseased skin, exemplified by the mechano-bullosa disease recessive dystrophic epidermolysis bullosa, by using skin cells from cells derived from diseased patients...
  49. Molecular Therapeutics for Epithelial Disorders
    PAUL KHAVARI; Fiscal Year: 2006
    ..four years in cutaneous basement membrane zone (BMZ) studies and in developing ex vivo gene therapy for epidermolysis bullosa (EB)...
  50. WORKSHOP ON LINKAGE ANALYSIS OF HEREDITARY SKIN DISEASES
    Ervin Epstein; Fiscal Year: 1990
    ..g. the various types of epidermolysis bullosa) and the more common diseases with less certain modes of inheritance (e.g. psoriasis)...
  51. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2006
    ..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...
  52. WAVE DNA Fragment Analysis System
    Jouni Uitto; Fiscal Year: 2001
    ..It is highly suitable for analysis of a set of genes in a large number of individuals as well as identification of mutations and polymorphisms in many genes of interest. ..
  53. COLLAGEN BIOSYNTHESIS OF CULTURED FIBROBLASTS
    Jouni Uitto; Fiscal Year: 2006
    ....
  54. Molecular Genetics of Familial Tumoral Calcinosis
    Jouni Uitto; Fiscal Year: 2009
    ..abstract_text> ..
  55. 12th International Symposium on Basement Membranes
    Jouni Uitto; Fiscal Year: 2005
    ..In that sense, the meeting will meet some of the goals of the National Institutes of Health Roadmap Initiative. ..