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Epidermolysis Bullosa Simplex

  • Tor Shwayder
  • Samantha L. Schneider
  • Devika Icecreamwala
  • Marla N. Jahnke
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Abstract

Epidermolysis bullosa simplex (EBS) is a mechanobullous disorder where the skin fragility affects the epidermis. There are both basal and suprabasal subtypes depending on where the blister occurs. It is inherited predominantly in an autosomal dominant fashion. Multiple genes have been implicated in EBS including PKP-1 and DSP for suprabasilar lesions and KRT5, KRT14, PLEC1, ITGA6, ITGB4, and DST for basilar lesions. These gene mutations correlate to proteins such as plakophilin-1, desmoplakin, keratin-5, keratin-14, plectin, alpha-6 beta-4 integrin, and dystonin, respectively [1].

References

  1. 1.
    Intong LR, Murrell DF. Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol. 2012;30(1):70–7.CrossRefGoogle Scholar
  2. 2.
    Echeverria-Garcia B, Vicente A, Hernandez A, et al. Epidermolysis bullosa simplex with mottled pigmentation: a family report and review. Pediatr Dermatol. 2013;30(6):e125–31.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Tor Shwayder
    • 1
  • Samantha L. Schneider
    • 2
  • Devika Icecreamwala
    • 3
  • Marla N. Jahnke
    • 2
  1. 1.Pediatric DermatologyHenry Ford HospitalDetroitUSA
  2. 2.Department of DermatologyHenry Ford HospitalDetroitUSA
  3. 3.Icecreamwala DermatologyBerkeleyUSA

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