Hereditary epidermolysis bullosa

Semin Dermatol. 1994 Jun;13(2):102-7.

Abstract

Epidermolysis bullosa (EB) is a diverse group of disorders having blister formation as their common feature. Tissue separation occurs at variable depths in the skin and/or mucosa depending on the specific EB type. Marked oral involvement of the soft and hard tissues can produce potentially devastating alterations, with oral tissue fragility and blistering common to all EB types. Oral debilitation resulting from soft tissue scarring is limited primarily to the recessive dystrophic EB subtypes. Individuals with generalized recessive dystrophic EB typically have microstomia, obliteration of the oral vestibule, and ankyloglossia. Generalized enamel hypoplasia appears to be limited to junctional EB, whereas rampant dental caries afflicts many individuals having either junctional or generalized recessive dystrophic EB. Although systemic treatment remains primarily palliative, it is possible to prevent destruction and subsequent loss of the dentition through appropriate interventions and dental therapy. The severely affected soft and/or hard tissues frequently seen in patients having generalized recessive dystrophic and junctional EB often require aggressive dental intervention to maintain optimal oral health. Even the most severely affected individuals with EB can retain their dentition through the use of modern dental restorative techniques delivered using general anesthesia.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Dental Enamel Hypoplasia / pathology
  • Dental Enamel Hypoplasia / therapy
  • Epidermolysis Bullosa / genetics*
  • Epidermolysis Bullosa / pathology
  • Epidermolysis Bullosa / therapy
  • Humans
  • Mouth Diseases / genetics*
  • Mouth Diseases / pathology
  • Mouth Diseases / therapy