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Outline
  • Abstract
  • Keywords
  • Introduction
  • Classification criteria for inherited epidermolysis bullosa
  • Epidermolysis bullosa simplex
    • Abstract
    • Keywords
    • Introduction
    • Classification criteria for inherited epidermolysis bullosa
    • Epidermolysis bullosa simplex
    • Clinical subtypes of epidermolysis bullosa simplex
    • Genetics of epidermolysis bullosa simplex
    • Keratins 5 and 14
    • Plectin
    • Other associated proteins and the kelch-like protein
    • Junctional epidermolysis bullosa
    • Clinical subtypes of junctional epidermolysis bullosa
    • Genetics of junctional epidermolysis bullosa
    • Laminin 332
    • Collagen xvii
    • A6β4 and α3β1 integrins
    • Dystrophic epidermolysis bullosa
    • Clinical subtypes of dystrophic epidermolysis bullosa
    • Genetics of dystrophic epidermolysis bullosa
    • Type vii collagen
    • Kindler’s epidermolysis bullosa
    • Other skin fragility disorders
    • Diagnosis of inherited epidermolysis bullosa
    • Final considerations
    • Financial support
    • Authors’ contributions
    • Conflicts of interest
    • Cme questions
    • Bibliography
Continuing Medical Education
DOI: 10.1016/j.abd.2020.05.001
Open Access
Inherited epidermolysis bullosa: update on the clinical and genetic aspects
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Luiza Monteavaro Mariatha, Juliana Tosetto Santinb,c, Lavínia Schuler-Faccinid, Ana Elisa Kiszewskic,e,f,
Corresponding author
kiszewski@gmail.com

Corresponding author.
a Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
b Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
c Dermatology Service, Santa Casa de Misericórdia de Porto Alegre/Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil
d Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
e Department of Clinical Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil
f Pediatric Dermatology Unit, Santa Casa de Misericórdia de Porto Alegre/Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil

Article

This article is available in English

Inherited epidermolysis bullosa: update on the clinical and genetic aspects
Luiza Monteavaro Mariath, Juliana Tosetto Santin, Lavínia Schuler-Faccini, Ana Elisa Kiszewski
10.1016/j.abd.2020.05.001

Este artigo também está disponível em português

Epidermólise bolhosa hereditária: atualização dos aspectos clínicos e genéticos
Luiza Monteavaro Mariath, Juliana Tosetto Santin, Lavínia Schuler‐Faccini, Ana Elisa Kiszewski
10.1016/j.abdp.2020.07.006

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