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Oral Manifestations in Inherited Epidermolysis Bullosa

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Diseases of the Oral Mucosa

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Abstract

The aim of this chapter is to describe the spectrum of oral manifestations and their management in epidermolysis bullosa. The term epidermolysis bullosa comprises rare genodermatoses that manifest with skin and mucosal fragility. There are four main EB types and more than 30 subtypes. The clinical spectrum is broad, including mild fragility of skin and nail dystrophy at the one end, and severe subtypes with extracutaneous and systemic involvement at the other end of the spectrum. The adhesion proteins that are mutated in EB are also expressed in the oral epithelium, and in the teeth. Thus, oral involvement occurs in most subtypes of EB. The typical features are blisters and ulcerations that may heal with scarring. Among the anomalies of the teeth, enamel hypoplasia is the most common, leading to tooth sensitivity, attrition, carries and tooth loss. As prevention and early treatment can significantly benefit people living with EB and increase their quality of life, timely management of oral EB manifestations from early childhood onwards is essential.

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Abbreviations

DEB:

Dystrophic epidermolysis bullosa

EB:

Epidermolysis bullosa

EBS:

Epidermolysis bullosa simplex

EBS-KLHL24:

EBS caused by KLHL24 mutations

JEB:

Junctional epidermolysis bullosa

JEB-COL17:

JEB due to COL17A1 mutations

JEB-ITG:

JEB due to mutations in ITGA6 or ITGB4

JEB-LAM:

JEB due to laminin 332 mutations

RDEB:

Recessive dystrophic EB

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Authors and Affiliations

  1. Department of Pediatric Dentistry, Faculty of Dentistry, University of Chile, Santiago, Chile

    Susanne Krämer & Camila Paredes

  2. Department of Dermatology, Medical Center - University of Freiburg, Medical Faculty, Freiburg, Germany

    Antonia Reimer-Taschenbrecker & Cristina Has

Authors
  1. Susanne Krämer
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  2. Camila Paredes
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  3. Antonia Reimer-Taschenbrecker
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  4. Cristina Has
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Corresponding author

Correspondence to Cristina Has .

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Editors and Affiliations

  1. Lübeck Institute of Experimental Dermatology (LIED) and Department of Dermatology, University of Lübeck, Lübeck, Germany

    Enno Schmidt

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Krämer, S., Paredes, C., Reimer-Taschenbrecker, A., Has, C. (2021). Oral Manifestations in Inherited Epidermolysis Bullosa. In: Schmidt, E. (eds) Diseases of the Oral Mucosa. Springer, Cham. https://doi.org/10.1007/978-3-030-82804-2_8

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  • DOI: https://doi.org/10.1007/978-3-030-82804-2_8

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