European Journal of Dermatology

, Volume 28, Issue 3, pp 412–413 | Cite as

Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1: c.505C>T (p.Arg169*) mutation

  • Sara O. Vaz
  • Catarina Dâmaso
  • Lu Liu
  • Linda Ozoemena
  • Luisa Mota-VieiraEmail author


  1. 1.
    Fine JD, Bruckner–Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa:updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70: 1103–26.CrossRefPubMedGoogle Scholar
  2. 2.
    Azizkhan RG, Mami A. Epidermolysis bullosa:epidemiology, diagnosis, complications, and treatment. In:Esophageal and Gastric Disorders in Infancy and Childhood. Till H, Thompson M, Faker J, Holcomb III GW, Khan K. Berlin:Springer, 2017: 801–14.Google Scholar
  3. 3.
    Murrel D. Blistering Diseases:Clinical Features, Pathogenesis, Treatment. Berlin:Springer, 2015.CrossRefGoogle Scholar
  4. 4.
    Darlin TN, Bauer JW, Hintner H, Yancey KB. Generalized atrophic benign epidermolysis bullosa. Advent Dermatol 1997; 13: 87–119.Google Scholar
  5. 5.
    Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB):report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 2008; 58: 931–50.CrossRefPubMedGoogle Scholar
  6. 6.
    Kiritsi D, Kern JS, Schumann H, et al. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet 2011; 48: 450–7.CrossRefPubMedGoogle Scholar
  7. 7.
    Yancey KB, Hintner H. Non–herlitz junctional epidermolysis bullosa. Dermatol Clin 2010; 28: 66–7.CrossRefGoogle Scholar
  8. 8.
    Fine JD, Johnson LB, Weiner M, Suchindran C. Cause–specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr 2008; 152: 276–80.CrossRefPubMedGoogle Scholar

Copyright information

© John Libbey Eurotext 2018

Authors and Affiliations

  • Sara O. Vaz
    • 1
  • Catarina Dâmaso
    • 1
  • Lu Liu
    • 2
  • Linda Ozoemena
    • 2
  • Luisa Mota-Vieira
    • 3
    • 4
    • 5
    Email author
  1. 1.Paediatrics DepartmentHospital of Divino Espírito Santo of Ponta Delgada, EPER, Ponta DelgadaSão Miguel Island, AzoresPortugal
  2. 2.The National Diagnostic EB LabSt Thomas’ HospitalLondonUK
  3. 3.Molecular Genetics and Pathology UnitHospital of Divino Espírito Santo of Ponta Delgada, EPER, Ponta DelgadaSão Miguel Island, AzoresPortugal
  4. 4.BioISI - Biosystems & Integrative Sciences Institute, Faculty of SciencesUniversity of LisboaLisboaPortugal
  5. 5.Instituto Gulbenkian de CiênciaOeirasPortugal

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